#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
PUSL1	126789	broad.mit.edu	37	1	1244324	1244324	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:1244324G>T	ENST00000379031.5	+	2	184	c.107G>T	c.(106-108)cGc>cTc	p.R36L	CPSF3L_ENST00000462432.1_5'Flank|ACAP3_ENST00000354700.5_5'Flank|ACAP3_ENST00000353662.3_5'Flank|PUSL1_ENST00000470520.1_Intron	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	36					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R36L(1)		lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCACTCAGCGCGCCGTCGGG	0.771																																						uc001aed.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(106-108)CGC>CTC		pseudouridylate synthase-like 1							4.0	5.0	4.0					1																	1244324		1918	3923	5841	SO:0001583	missense	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1244324G>T	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.107G>T	1.37:g.1244324G>T	ENSP00000368318:p.Arg36Leu					ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_Intron|PUSL1_uc010nyi.1_Intron|PUSL1_uc009vjx.2_5'Flank	p.R36L	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	137	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	36					B4DP76|Q5TA41	Missense_Mutation	SNP	ENST00000379031.5	37	c.107G>T	CCDS20.1	.	.	.	.	.	.	.	.	.	.	g	8.984	0.976117	0.18736	.	.	ENSG00000169972	ENST00000379031	T	0.57273	0.41	4.46	2.08	0.27032	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	2.880940	0.01193	N	0.007367	T	0.41119	0.1145	N	0.25485	0.75	0.09310	N	1	B	0.28971	0.229	B	0.29942	0.109	T	0.28870	-1.0030	10	0.30854	T	0.27	-11.441	5.3399	0.15979	0.307:0.0:0.693:0.0	.	36	Q8N0Z8	PUSL1_HUMAN	L	36	ENSP00000368318:R36L	ENSP00000368318:R36L	R	+	2	0	PUSL1	1234187	0.000000	0.05858	0.800000	0.32199	0.403000	0.30841	0.130000	0.15850	1.026000	0.39733	0.537000	0.68136	CGC		PASS	0.771	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1	NM_153339		3	3	3	3	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12557583	12557583	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:12557583G>T	ENST00000358136.3	+	68	12822	c.12692G>T	c.(12691-12693)cGt>cTt	p.R4231L	VPS13D_ENST00000356315.4_Missense_Mutation_p.R4206L|VPS13D_ENST00000543710.1_Missense_Mutation_p.R35L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.R229L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R4231L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGGAAACCGCGTTGCTGCACG	0.507																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(12691-12693)CGT>CTT		vacuolar protein sorting 13D isoform 1							70.0	70.0	70.0					1																	12557583		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12557583G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12692G>T	1.37:g.12557583G>T	ENSP00000350854:p.Arg4231Leu					VPS13D_uc001atw.2_Missense_Mutation_p.R4206L|VPS13D_uc001atx.2_Missense_Mutation_p.R3418L|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Missense_Mutation_p.R229L	p.R4231L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	68	12833	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4230						Missense_Mutation	SNP	ENST00000358136.3	37	c.12692G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.478842|5.478842	0.96291|0.96291	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710|ENST00000011700	T;T;T|.	0.00745|.	5.75;5.75;5.75|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84977|0.84977	0.5592|0.5592	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.999|.	D|D	0.85892|0.85892	0.1429|0.1429	10|5	0.87932|.	D|.	0|.	.|.	19.545|19.545	0.95291|0.95291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229;4206;4230|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	L|F	4206;4231;229;35|3053	ENSP00000348666:R4206L;ENSP00000350854:R4231L;ENSP00000441122:R229L|.	ENSP00000348666:R4206L|.	R|V	+|+	2|1	0|0	VPS13D|VPS13D	12480170|12480170	1.000000|1.000000	0.71417|0.71417	0.251000|0.251000	0.24312|0.24312	0.895000|0.895000	0.52256|0.52256	9.161000|9.161000	0.94739|0.94739	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CGT|GTT		PASS	0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	47	6	47	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259730	16259730	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:16259730G>A	ENST00000375759.3	+	11	7199	c.6995G>A	c.(6994-6996)cGc>cAc	p.R2332H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2332	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R2332H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GACAAAGGGCGCCAGAAAACA	0.502																																						uc001axk.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(6994-6996)CGC>CAC		spen homolog, transcriptional regulator							84.0	93.0	90.0					1																	16259730		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259730G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6995G>A	1.37:g.16259730G>A	ENSP00000364912:p.Arg2332His					SPEN_uc010obp.1_Missense_Mutation_p.R2291H	p.R2332H	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7199	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2332			RID.|Interaction with MSX2 (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.6995G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614939	0.46631	.	.	ENSG00000065526	ENST00000375759	T	0.26518	1.73	4.96	4.96	0.65561	.	.	.	.	.	T	0.45915	0.1366	L	0.61218	1.895	0.41757	D	0.989692	D	0.76494	0.999	P	0.59221	0.854	T	0.48269	-0.9050	9	0.62326	D	0.03	-10.7138	18.1879	0.89798	0.0:0.0:1.0:0.0	.	2332	Q96T58	MINT_HUMAN	H	2332	ENSP00000364912:R2332H	ENSP00000364912:R2332H	R	+	2	0	SPEN	16132317	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.015000	0.64035	2.282000	0.76494	0.462000	0.41574	CGC		PASS	0.502	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	46	4	46	---	---	---	---
C1orf64	149563	broad.mit.edu	37	1	16332412	16332412	+	Splice_Site	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:16332412A>T	ENST00000329454.2	+	2	150		c.e2-1		RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64									p.?(1)		breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCTTCTAGGTGGGAAGC	0.562																																						uc001axn.2																			1	Unknown(1)		lung(1)	breast(2)	2						c.e2-2		hypothetical protein LOC149563							224.0	238.0	233.0					1																	16332412		2203	4300	6503	SO:0001630	splice_region_variant	149563							g.chr1:16332412A>T	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.83-1A>T	1.37:g.16332412A>T							p.G28_splice	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	2	151	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						B3KXI9	Splice_Site	SNP	ENST00000329454.2	37	c.83_splice	CCDS166.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.185938	0.38609	.	.	ENSG00000183888	ENST00000329454	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.76	0.51896	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf64	16204999	0.982000	0.34865	0.097000	0.21041	0.165000	0.22458	2.804000	0.47931	2.050000	0.60909	0.533000	0.62120	.		PASS	0.562	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840	Intron	66	200	66	200	---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17331277	17331277	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:17331277C>A	ENST00000326735.8	-	5	420	c.387G>T	c.(385-387)cgG>cgT	p.R129R	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.R129R|ATP13A2_ENST00000452699.1_Silent_p.R129R			Q9NQ11	AT132_HUMAN	ATPase type 13A2	129					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R129R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCGCCTGGCTCCGGCCATCCT	0.672																																						uc001baa.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(385-387)CGG>CGT		ATPase type 13A2 isoform 1							61.0	67.0	65.0					1																	17331277		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17331277C>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.387G>T	1.37:g.17331277C>A						ATP13A2_uc001bab.2_Silent_p.R129R|ATP13A2_uc001bac.2_Silent_p.R129R	p.R129R	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	5	577	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	129			Cytoplasmic (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.387G>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433064	0.25813	.	.	ENSG00000159363	ENST00000510069;ENST00000508222;ENST00000509619	.	.	.	4.21	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2666	12.7028	0.57043	0.0:0.8322:0.1678:0.0	.	.	.	.	X	105;41;122	.	.	E	-	1	0	ATP13A2	17203864	0.207000	0.23482	1.000000	0.80357	0.438000	0.31896	0.180000	0.16860	0.863000	0.35553	0.313000	0.20887	GAG		PASS	0.672	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		17	54	17	54	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17594354	17594354	+	Missense_Mutation	SNP	G	G	T	rs368559471		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:17594354G>T	ENST00000375460.3	+	6	589	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	183					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.M183I(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTCTGTCATGGTCCTGCGGA	0.587																																						uc001bai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(547-549)ATG>ATT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						105.0	87.0	93.0					1																	17594354		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17594354G>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.549G>T	1.37:g.17594354G>T	ENSP00000364609:p.Met183Ile						p.M183I	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	589	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	183					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.549G>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955680	0.73902	.	.	ENSG00000142619	ENST00000375460	T	0.22336	1.96	5.42	5.42	0.78866	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.88310	2.945	0.58432	D	0.999996	D	0.56968	0.978	P	0.60415	0.874	T	0.59144	-0.7509	10	0.59425	D	0.04	-51.4522	17.772	0.88495	0.0:0.0:1.0:0.0	.	183	Q9ULW8	PADI3_HUMAN	I	183	ENSP00000364609:M183I	ENSP00000364609:M183I	M	+	3	0	PADI3	17466941	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.372000	0.97165	2.543000	0.85770	0.561000	0.74099	ATG		PASS	0.587	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			12	44	12	44	---	---	---	---
PDIK1L	149420	broad.mit.edu	37	1	26448341	26448341	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:26448341C>T	ENST00000374271.4	+	4	586	c.299C>T	c.(298-300)tCa>tTa	p.S100L	PDIK1L_ENST00000374269.1_Missense_Mutation_p.S100L	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S100L(1)		large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGAAACTTCATTAAAAGGA	0.333																																						uc010oew.1																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TCA>TTA		PDLIM1 interacting kinase 1 like							74.0	81.0	78.0					1																	26448341		2203	4299	6502	SO:0001583	missense	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26448341C>T	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.299C>T	1.37:g.26448341C>T	ENSP00000363389:p.Ser100Leu					PDIK1L_uc001blj.3_Missense_Mutation_p.S100L|PDIK1L_uc009vsb.2_Missense_Mutation_p.S100L	p.S100L	NM_152835	NP_690048	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	3	572	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	100			Protein kinase.		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	c.299C>T	CCDS274.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289898	0.80914	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.63913	0.23;-0.07;-0.07	5.96	5.96	0.96718	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	L	0.28054	0.825	0.43073	D	0.994713	P	0.48640	0.913	P	0.56127	0.792	T	0.65524	-0.6147	10	0.45353	T	0.12	-12.1068	20.0112	0.97449	0.0:1.0:0.0:0.0	.	100	Q8N165	PDK1L_HUMAN	L	100	ENSP00000406510:S100L;ENSP00000363389:S100L;ENSP00000363387:S100L	ENSP00000363387:S100L	S	+	2	0	PDIK1L	26320928	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TCA		PASS	0.333	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		17	70	17	70	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32210249	32210249	+	Splice_Site	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:32210249C>A	ENST00000373658.3	-	5	1263	c.922G>T	c.(922-924)Ggc>Tgc	p.G308C	BAI2_ENST00000373655.2_Splice_Site_p.G308C|BAI2_ENST00000257070.4_Splice_Site_p.G308C|BAI2_ENST00000440175.2_Splice_Site_p.V5L|BAI2_ENST00000398538.1_Splice_Site_p.G296C|BAI2_ENST00000398556.3_Splice_Site_p.V311L|BAI2_ENST00000398542.1_Splice_Site_p.G296C|BAI2_ENST00000527361.1_Splice_Site_p.G308C|BAI2_ENST00000398547.1_Splice_Site_p.V296L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	308					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G308C(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCCGAGTTACCTGTCTGCGCC	0.627																																						uc001btn.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(922-924)GGC>TGC		brain-specific angiogenesis inhibitor 2							83.0	71.0	75.0					1																	32210249		2203	4300	6503	SO:0001630	splice_region_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32210249C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.922+1G>T	1.37:g.32210249C>A						BAI2_uc010ogo.1_Missense_Mutation_p.V5L|BAI2_uc010ogp.1_Missense_Mutation_p.V296L|BAI2_uc010ogq.1_Missense_Mutation_p.G308C|BAI2_uc001bto.2_Missense_Mutation_p.G308C|BAI2_uc001btq.1_Missense_Mutation_p.G296C|BAI2_uc010ogr.1_Missense_Mutation_p.V296L	p.G308C	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	5	1276	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	308			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.922G>T	CCDS346.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.29|18.29	3.591320|3.591320	0.66219|0.66219	.|.	.|.	ENSG00000121753|ENSG00000121753	ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125|ENST00000398556;ENST00000398547;ENST00000440175;ENST00000533175	T;T;T;T;T;T;T|T;T;T;T	0.51325|0.21191	0.76;0.76;1.78;0.71;0.71;0.78;1.39|2.02;2.02;2.02;2.02	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	.|.	.|.	.|.	.|.	T|T	0.30293|0.30293	0.0760|0.0760	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D;D|P;D;D	0.89917|0.60575	1.0;1.0;1.0;1.0|0.942;0.985;0.988	D;D;D;D|P;P;P	0.97110|0.61070	1.0;0.99;0.999;0.99|0.764;0.881;0.883	T|T	0.01697|0.01697	-1.1293|-1.1293	8|8	.|.	.|.	.|.	.|.	14.2951|14.2951	0.66308|0.66308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	308;296;308;308|296;351;5	O60241-4;A2A3C1;O60241-2;O60241|A2A3C3;O60241-3;B4DKC3	.;.;.;BAI2_HUMAN|.;.;.	C|L	308;308;296;308;308;296;301|311;296;5;342	ENSP00000362762:G308C;ENSP00000362759:G308C;ENSP00000381550:G296C;ENSP00000257070:G308C;ENSP00000435397:G308C;ENSP00000381548:G296C;ENSP00000410921:G301C|ENSP00000381564:V311L;ENSP00000381555:V296L;ENSP00000391071:V5L;ENSP00000437219:V342L	.|.	G|V	-|-	1|1	0|0	BAI2|BAI2	31982836|31982836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	3.163000|3.163000	0.50763|0.50763	2.172000|2.172000	0.68678|0.68678	0.313000|0.313000	0.20887|0.20887	GGC|GTG		PASS	0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	Missense_Mutation	7	11	7	11	---	---	---	---
ZMYM1	79830	broad.mit.edu	37	1	35580552	35580552	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:35580552G>C	ENST00000373330.1	+	11	3295	c.3121G>C	c.(3121-3123)Gat>Cat	p.D1041H	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.D1041H			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1041						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D1041H(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTTGTCATAGATGATAGTTG	0.333																																						uc001bym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3121-3123)GAT>CAT		zinc finger, MYM domain containing 1							161.0	151.0	154.0					1																	35580552		1859	4107	5966	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580552G>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3121G>C	1.37:g.35580552G>C	ENSP00000362427:p.Asp1041His					ZMYM1_uc001byn.2_Missense_Mutation_p.D1041H|ZMYM1_uc010ohu.1_Missense_Mutation_p.D1022H|ZMYM1_uc001byo.2_Missense_Mutation_p.D681H|ZMYM1_uc009vut.2_Missense_Mutation_p.D966H	p.D1041H	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	3269	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1041					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.3121G>C	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	5.601	0.295644	0.10622	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.23348	1.91;1.91;1.91	4.34	0.204	0.15199	HAT dimerisation (1);Ribonuclease H-like (1);	1.058710	0.07386	N	0.888234	T	0.22666	0.0547	L	0.29908	0.895	0.09310	N	1	P;B	0.45396	0.857;0.014	P;B	0.50049	0.629;0.02	T	0.15292	-1.0442	9	.	.	.	-0.8122	1.7491	0.02968	0.1796:0.2862:0.382:0.1522	.	1022;1041	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	H	1041;966;1041	ENSP00000352920:D1041H;ENSP00000362426:D966H;ENSP00000362427:D1041H	.	D	+	1	0	ZMYM1	35353139	0.005000	0.15991	0.000000	0.03702	0.058000	0.15608	0.480000	0.22244	0.053000	0.16036	0.467000	0.42956	GAT		PASS	0.333	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		9	109	9	109	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39877045	39877045	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:39877045G>T	ENST00000530275.1	+	1	895	c.700G>T	c.(700-702)Gca>Tca	p.A234S	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	234										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCAAACACAGCAGTGGTGGA	0.478											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vvt.1																			0					0						c.(1108-1110)GCA>TCA		hypothetical protein LOC643314							157.0	159.0	158.0					1																	39877045		1991	4164	6155	SO:0001583	missense	643314							g.chr1:39877045G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.700G>T	1.37:g.39877045G>T	ENSP00000431179:p.Ala234Ser		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.A370S	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1870	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	234					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1108G>T		.	.	.	.	.	.	.	.	.	.	G	14.77	2.635155	0.47049	.	.	ENSG00000255103	ENST00000530275	T	0.27557	1.66	4.29	0.258	0.15578	.	.	.	.	.	T	0.16981	0.0408	N	0.14661	0.345	0.09310	N	1	P	0.45957	0.869	B	0.41510	0.359	T	0.12837	-1.0532	9	0.72032	D	0.01	.	5.8649	0.18768	0.2471:0.1416:0.6112:0.0	.	234	O94854	K0754_HUMAN	S	234	ENSP00000431179:A234S	ENSP00000431179:A234S	A	+	1	0	RP4-562N20.1	39649632	0.006000	0.16342	0.654000	0.29608	0.901000	0.52897	0.691000	0.25467	0.186000	0.20125	0.655000	0.94253	GCA		PASS	0.478	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		29	62	29	62	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44446880	44446880	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:44446880G>A	ENST00000356836.6	+	2	838	c.48G>A	c.(46-48)gtG>gtA	p.V16V	B4GALT2_ENST00000372324.1_Silent_p.V16V|B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000309519.7_Silent_p.V45V	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	16					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.V16V(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GCAAGGCTGTGCTCCTTCTCT	0.687																																						uc001clg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(46-48)GTG>GTA		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						88.0	69.0	75.0					1																	44446880		2203	4300	6503	SO:0001819	synonymous_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44446880G>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.48G>A	1.37:g.44446880G>A						B4GALT2_uc001clh.2_5'UTR|B4GALT2_uc010okl.1_Silent_p.V45V|B4GALT2_uc001cli.2_Silent_p.V16V	p.V16V	NM_003780	NP_003771	O60909	B4GT2_HUMAN			2	418	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	16			Helical; Signal-anchor for type II membrane protein; (Potential).		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Silent	SNP	ENST00000356836.6	37	c.48G>A	CCDS506.1																																																																																				PASS	0.687	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		6	36	6	36	---	---	---	---
KLF17	128209	broad.mit.edu	37	1	44595240	44595240	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:44595240C>T	ENST00000372299.3	+	2	355	c.297C>T	c.(295-297)agC>agT	p.S99S	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	99					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S99S(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTGGTATGAGCTACTGCCCCC	0.557																																						uc001clp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(295-297)AGC>AGT		zinc finger protein 393							102.0	101.0	101.0					1																	44595240		2203	4300	6503	SO:0001819	synonymous_variant	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595240C>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.297C>T	1.37:g.44595240C>T						KLF17_uc009vxf.1_Silent_p.S62S	p.S99S	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	355	+	Acute lymphoblastic leukemia(166;0.155)		99					Q86VQ7|Q8N805	Silent	SNP	ENST00000372299.3	37	c.297C>T	CCDS508.1																																																																																				PASS	0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		12	57	12	57	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46485316	46485316	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:46485316G>A	ENST00000361297.2	+	11	1520	c.1237G>A	c.(1237-1239)Gtg>Atg	p.V413M	MAST2_ENST00000372009.2_Missense_Mutation_p.V343M	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.V413M(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GATGCAGCTGGTGAAAAAGCT	0.507																																						uc001cov.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(1237-1239)GTG>ATG		microtubule associated serine/threonine kinase							87.0	85.0	86.0					1																	46485316		1971	4164	6135	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46485316G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1237G>A	1.37:g.46485316G>A	ENSP00000354671:p.Val413Met					MAST2_uc001cow.2_Missense_Mutation_p.V413M|MAST2_uc001coy.1_Intron|MAST2_uc001coz.1_Missense_Mutation_p.V298M|MAST2_uc009vya.2_Missense_Mutation_p.V335M|MAST2_uc001cpa.2_RNA	p.V413M	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			11	1520	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		413						Missense_Mutation	SNP	ENST00000361297.2	37	c.1237G>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499889	0.85176	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000372008	T;T;T	0.37235	1.21;1.21;1.21	5.1	5.1	0.69264	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.065635	0.64402	D	0.000014	T	0.59473	0.2196	M	0.66506	2.035	0.54753	D	0.999983	P;D;P	0.69078	0.703;0.997;0.943	P;D;P	0.68483	0.495;0.958;0.854	T	0.61608	-0.7028	10	0.59425	D	0.04	-14.6912	18.8909	0.92403	0.0:0.0:1.0:0.0	.	343;343;413	Q6P0Q8-2;E7ERL6;Q6P0Q8	.;.;MAST2_HUMAN	M	413;343;298	ENSP00000354671:V413M;ENSP00000361079:V343M;ENSP00000361078:V298M	ENSP00000354671:V413M	V	+	1	0	MAST2	46257903	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.010000	0.88615	2.527000	0.85204	0.484000	0.47621	GTG		PASS	0.507	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		11	38	11	38	---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57159485	57159485	+	Missense_Mutation	SNP	G	G	C	rs371637215		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:57159485G>C	ENST00000371244.4	+	5	589	c.523G>C	c.(523-525)Gga>Cga	p.G175R		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.G175R(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AACTAGTTGCGGATCTCCAAA	0.308																																						uc001cyk.3																			2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(1)|stomach(1)	6						c.(523-525)GGA>CGA		AMP-activated protein kinase alpha 2 catalytic							135.0	144.0	141.0					1																	57159485		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57159485G>C	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.523G>C	1.37:g.57159485G>C	ENSP00000360290:p.Gly175Arg						p.G175R	NM_006252	NP_006243	P54646	AAPK2_HUMAN			5	594	+			175			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.523G>C	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809317	0.90707	.	.	ENSG00000162409	ENST00000371244	T	0.40476	1.03	5.78	5.78	0.91487	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	0.79598	0.4473	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.87932	D	0	-20.3858	20.0114	0.97452	0.0:0.0:1.0:0.0	.	175	P54646	AAPK2_HUMAN	R	175	ENSP00000360290:G175R	ENSP00000360290:G175R	G	+	1	0	PRKAA2	56932073	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.351000	0.97073	2.732000	0.93576	0.591000	0.81541	GGA		PASS	0.308	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		16	80	16	80	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74648457	74648457	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:74648457T>A	ENST00000395089.1	-	2	337	c.338A>T	c.(337-339)aAg>aTg	p.K113M	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.K113M|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.K113M			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	113								p.K113M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACATATATTCTTTAACTTTGC	0.333																																						uc001dfy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(337-339)AAG>ATG		leucine-rich repeats and IQ motif containing 3							75.0	73.0	74.0					1																	74648457		2203	4299	6502	SO:0001583	missense	127255							g.chr1:74648457T>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.338A>T	1.37:g.74648457T>A	ENSP00000378524:p.Lys113Met					LRRIQ3_uc001dfz.3_RNA	p.K113M	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			3	530	-			113			LRR 3.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.338A>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.545019	0.65198	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.10477	2.87;2.87;2.87	5.65	4.52	0.55395	.	0.158626	0.42420	D	0.000702	T	0.13072	0.0317	L	0.44542	1.39	0.30258	N	0.79346	D	0.89917	1.0	D	0.72982	0.979	T	0.02691	-1.1123	10	0.72032	D	0.01	.	12.1209	0.53891	0.0:0.0:0.1438:0.8562	.	113	A6PVS8	LRIQ3_HUMAN	M	113	ENSP00000378524:K113M;ENSP00000346414:K113M;ENSP00000359948:K113M	ENSP00000346414:K113M	K	-	2	0	LRRIQ3	74421045	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	1.635000	0.37134	0.954000	0.37851	-0.299000	0.09455	AAG		PASS	0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		14	49	14	49	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038038	75038038	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:75038038G>A	ENST00000326665.5	-	14	3574	c.3356C>T	c.(3355-3357)cCa>cTa	p.P1119L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1119	Glu-rich.							p.P1119L(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						CATTTCATTTGGGGGAGCTTT	0.443																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3355-3357)CCA>CTA		hypothetical protein LOC127254							87.0	94.0	91.0					1																	75038038		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038038G>A																												ENST00000326665.5:c.3356C>T	1.37:g.75038038G>A	ENSP00000322609:p.Pro1119Leu						p.P1119L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3575	-			1119			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3356C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	4.973	0.180717	0.09443	.	.	ENSG00000178965	ENST00000326665	T	0.12039	2.72	3.65	-7.3	0.01446	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33929	-0.9849	9	0.30078	T	0.28	8.4058	5.8955	0.18937	0.0755:0.1455:0.195:0.584	.	1119	Q5RHP9	CA173_HUMAN	L	1119	ENSP00000322609:P1119L	ENSP00000322609:P1119L	P	-	2	0	C1orf173	74810626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.296000	0.00072	-2.960000	0.00290	-0.314000	0.08810	CCA		PASS	0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			50	60	50	60	---	---	---	---
MCOLN2	255231	broad.mit.edu	37	1	85412758	85412758	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:85412758C>A	ENST00000370608.3	-	7	872	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.A241S	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	269					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A269S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TCAATTTTGGCATCACTGTCA	0.313																																						uc001dkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(805-807)GCC>TCC		mucolipin 2							155.0	159.0	158.0					1																	85412758		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85412758C>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.805G>T	1.37:g.85412758C>A	ENSP00000359640:p.Ala269Ser					MCOLN2_uc001dkn.2_RNA	p.A269S	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	7	1046	-			269					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.805G>T	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122058	0.37436	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.83837	-1.77;-1.77	5.85	4.93	0.64822	.	0.273852	0.40385	N	0.001117	T	0.61311	0.2337	L	0.61387	1.9	0.09310	N	0.999999	B	0.32918	0.39	B	0.24541	0.054	T	0.51164	-0.8740	10	0.17832	T	0.49	-47.0391	10.0882	0.42432	0.1387:0.7859:0.0:0.0754	.	269	Q8IZK6	MCLN2_HUMAN	S	269;241	ENSP00000359640:A269S;ENSP00000284027:A241S	ENSP00000284027:A241S	A	-	1	0	MCOLN2	85185346	0.989000	0.36119	0.563000	0.28383	0.982000	0.71751	3.061000	0.49963	1.459000	0.47892	0.579000	0.79373	GCC		PASS	0.313	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		30	58	30	58	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85487781	85487781	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:85487781C>A	ENST00000370589.2	-	11	1344	c.1292G>T	c.(1291-1293)tGg>tTg	p.W431L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.W375L|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	431					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W431L(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CAGCACGATCCATCCACAGAA	0.453																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1291-1293)TGG>TTG		mucolipin 3							113.0	110.0	111.0					1																	85487781		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85487781C>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1292G>T	1.37:g.85487781C>A	ENSP00000359621:p.Trp431Leu					MCOLN3_uc001dko.2_Missense_Mutation_p.W50L|MCOLN3_uc001dkq.2_Missense_Mutation_p.W375L	p.W431L	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	11	1385	-			431			Helical; (Potential).		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1292G>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842602	0.91197	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.67345	-0.26;-0.26	5.7	5.7	0.88788	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78732	-0.2089	10	0.40728	T	0.16	-6.2923	19.8414	0.96690	0.0:1.0:0.0:0.0	.	375;431	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	L	431;431;375;375	ENSP00000359621:W431L;ENSP00000342698:W375L	ENSP00000304843:W431L	W	-	2	0	MCOLN3	85260369	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.441000	0.80485	2.680000	0.91292	0.563000	0.77884	TGG		PASS	0.453	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		15	86	15	86	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92178020	92178020	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:92178020C>A	ENST00000525962.1	-	12	2007	c.1946G>T	c.(1945-1947)aGg>aTg	p.R649M	TGFBR3_ENST00000212355.4_Missense_Mutation_p.R649M|TGFBR3_ENST00000370399.2_Missense_Mutation_p.R648M			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	649	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R649M(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATGAGACATCCTATCAGGGTT	0.403																																						uc001doh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1945-1947)AGG>ATG		transforming growth factor, beta receptor III							123.0	118.0	119.0					1																	92178020		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92178020C>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1946G>T	1.37:g.92178020C>A	ENSP00000436127:p.Arg649Met					TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.R607M|TGFBR3_uc001doi.2_Missense_Mutation_p.R648M|TGFBR3_uc001doj.2_Missense_Mutation_p.R648M	p.R649M	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2412	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	649			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1946G>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436728	0.62955	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	6.16	5.25	0.73442	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.379625	0.31221	N	0.008040	T	0.75398	0.3844	M	0.63428	1.95	0.38242	D	0.941346	P;B	0.47841	0.901;0.078	P;B	0.45660	0.489;0.051	T	0.77435	-0.2589	9	.	.	.	-8.4015	10.5034	0.44819	0.1326:0.801:0.0:0.0664	.	648;649	Q03167-2;Q03167	.;TGBR3_HUMAN	M	649;648;649;648	ENSP00000212355:R649M;ENSP00000359426:R648M;ENSP00000436127:R649M;ENSP00000432638:R648M	.	R	-	2	0	TGFBR3	91950608	0.996000	0.38824	0.832000	0.32986	0.981000	0.71138	4.503000	0.60407	1.625000	0.50366	-0.157000	0.13467	AGG		PASS	0.403	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		16	55	16	55	---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94342030	94342030	+	Silent	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:94342030T>A	ENST00000436063.2	-	2	1518	c.1461A>T	c.(1459-1461)gcA>gcT	p.A487A	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A487A(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTACAAACAATGCATTGTCAC	0.383																																						uc001dqf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1459-1461)GCA>GCT		deoxynucleotidyltransferase, terminal,							97.0	91.0	93.0					1																	94342030		1947	4162	6109	SO:0001819	synonymous_variant	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342030T>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1461A>T	1.37:g.94342030T>A						DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Silent_p.A282A	p.A487A	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1499	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	487					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	c.1461A>T	CCDS44174.1																																																																																				PASS	0.383	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		23	34	23	34	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101200237	101200237	+	Missense_Mutation	SNP	G	G	T	rs146573744		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:101200237G>T	ENST00000294728.2	+	8	2073	c.1972G>T	c.(1972-1974)Gcc>Tcc	p.A658S	VCAM1_ENST00000370119.4_Missense_Mutation_p.A596S|VCAM1_ENST00000347652.2_Missense_Mutation_p.A566S|VCAM1_ENST00000370115.1_Missense_Mutation_p.A459S	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	658	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.A658S(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CATCCGAAAGGCCCAGTTGAA	0.388																																						uc001dti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1972-1974)GCC>TCC		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)	G	SER/ALA,SER/ALA,SER/ALA	0,4406		0,0,2203	94.0	98.0	97.0		1972,1786,1696	5.8	0.6	1	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	99,99,99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	658/740,596/678,566/648	101200237	1,13005	2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101200237G>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1972G>T	1.37:g.101200237G>T	ENSP00000294728:p.Ala658Ser					VCAM1_uc001dtj.2_Missense_Mutation_p.A566S|VCAM1_uc010ouj.1_Missense_Mutation_p.A596S	p.A658S	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	8	2092	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	658			Ig-like C2-type 7.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1972G>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400489	0.62177	0.0	1.16E-4	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.455727	0.26546	N	0.023766	T	0.76227	0.3958	M	0.72353	2.195	0.18873	N	0.999984	D;P;P	0.57257	0.979;0.941;0.876	P;P;P	0.58970	0.849;0.81;0.849	T	0.70278	-0.4916	10	0.44086	T	0.13	-5.4862	18.5428	0.91035	0.0:0.0:1.0:0.0	.	596;566;658	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	S	596;566;658;459	ENSP00000359137:A596S;ENSP00000304611:A566S;ENSP00000294728:A658S;ENSP00000359133:A459S	ENSP00000294728:A658S	A	+	1	0	VCAM1	100972825	0.775000	0.28604	0.558000	0.28319	0.201000	0.24016	6.167000	0.71902	2.885000	0.99019	0.655000	0.94253	GCC		PASS	0.388	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		41	38	41	38	---	---	---	---
GNAI3	2773	broad.mit.edu	37	1	110134722	110134722	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:110134722A>G	ENST00000369851.4	+	8	1042	c.932A>G	c.(931-933)aAc>aGc	p.N311S	RNU6V_ENST00000384105.1_RNA	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	311					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.N311S(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAAGATCTGAACAGAAGAAAA	0.403																																						uc001dxz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)AAC>AGC		guanine nucleotide binding protein (G protein),							115.0	106.0	109.0					1																	110134722		2203	4300	6503	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110134722A>G	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.932A>G	1.37:g.110134722A>G	ENSP00000358867:p.Asn311Ser						p.N311S	NM_006496	NP_006487	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	8	1089	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	311					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.932A>G	CCDS802.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810457	0.70797	.	.	ENSG00000065135	ENST00000369851	D	0.89343	-2.5	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.72894	2.215	0.80722	D	1	P	0.44478	0.836	B	0.44133	0.442	D	0.89727	0.3923	10	0.87932	D	0	.	16.3246	0.82970	1.0:0.0:0.0:0.0	.	311	P08754	GNAI3_HUMAN	S	311	ENSP00000358867:N311S	ENSP00000358867:N311S	N	+	2	0	GNAI3	109936245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	AAC		PASS	0.403	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		13	50	13	50	---	---	---	---
WNT2B	7482	broad.mit.edu	37	1	113058889	113058889	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:113058889T>A	ENST00000369684.4	+	3	1016	c.531T>A	c.(529-531)caT>caA	p.H177Q	WNT2B_ENST00000369686.5_Missense_Mutation_p.H158Q|WNT2B_ENST00000256640.5_Missense_Mutation_p.H85Q|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000478360.1_3'UTR	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	177					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.H177Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCGACACCATGACCAGCGTG	0.582																																						uc001ecb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(529-531)CAT>CAA		wingless-type MMTV integration site family,							172.0	152.0	159.0					1																	113058889		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113058889T>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.531T>A	1.37:g.113058889T>A	ENSP00000358698:p.His177Gln					WNT2B_uc001eca.2_Missense_Mutation_p.H158Q|WNT2B_uc009wgg.2_Missense_Mutation_p.H85Q	p.H177Q	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1046	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	177					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.531T>A	CCDS847.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595108	0.28445	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75154	-0.83;-0.91;-0.79	5.63	0.504	0.16946	.	0.296410	0.21207	U	0.078365	T	0.27731	0.0682	N	0.16233	0.39	0.36073	D	0.842247	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.02821	-1.1106	10	0.18276	T	0.48	.	1.4031	0.02275	0.1271:0.196:0.3358:0.3411	.	177;158	Q93097;Q93097-2	WNT2B_HUMAN;.	Q	85;158;177	ENSP00000256640:H85Q;ENSP00000358700:H158Q;ENSP00000358698:H177Q	ENSP00000256640:H85Q	H	+	3	2	WNT2B	112860412	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	0.214000	0.17541	0.410000	0.25675	0.459000	0.35465	CAT		PASS	0.582	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		20	73	20	73	---	---	---	---
CASQ2	845	broad.mit.edu	37	1	116280898	116280898	+	Missense_Mutation	SNP	C	C	A	rs372283956		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:116280898C>A	ENST00000261448.5	-	4	718	c.479G>T	c.(478-480)cGc>cTc	p.R160L	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	160					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.R160L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTCTTCAATGCGTTCGAAGGC	0.448																																						uc001efx.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(478-480)CGC>CTC		cardiac calsequestrin 2 precursor		C	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	246.0	215.0	226.0		479	5.8	1.0	1		226	0,8600		0,0,4300	no	missense	CASQ2	NM_001232.3	102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	possibly-damaging	160/400	116280898	1,13005	2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116280898C>A	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.479G>T	1.37:g.116280898C>A	ENSP00000261448:p.Arg160Leu					CASQ2_uc010owu.1_Intron	p.R160L	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	743	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	160					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.479G>T	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494589	0.85069	2.27E-4	0.0	ENSG00000118729	ENST00000261448;ENST00000446755	T	0.74737	-0.87	5.82	5.82	0.92795	Thioredoxin-like fold (2);	0.049422	0.85682	D	0.000000	T	0.77280	0.4107	M	0.76574	2.34	0.80722	D	1	D	0.58620	0.983	P	0.58130	0.833	T	0.80039	-0.1549	10	0.56958	D	0.05	-11.8293	9.4452	0.38693	0.0:0.8766:0.0:0.1234	.	160	O14958	CASQ2_HUMAN	L	160	ENSP00000261448:R160L	ENSP00000261448:R160L	R	-	2	0	CASQ2	116082421	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.052000	0.41316	2.752000	0.94435	0.655000	0.94253	CGC		PASS	0.448	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		30	128	30	128	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145538010	145538010	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:145538010G>C	ENST00000369304.3	+	22	2864	c.2689G>C	c.(2689-2691)Gag>Cag	p.E897Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.E766Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.E754Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	897					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.E897Q(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGAGTTTGAGTTTAGCTG	0.537																																						uc001eoa.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(2689-2691)GAG>CAG		integrin, alpha 10 precursor							223.0	209.0	214.0					1																	145538010		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145538010G>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2689G>C	1.37:g.145538010G>C	ENSP00000358310:p.Glu897Gln					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.E766Q|ITGA10_uc009wiw.2_Missense_Mutation_p.E754Q|ITGA10_uc010oyw.1_Missense_Mutation_p.E842Q	p.E897Q	NM_003637	NP_003628	O75578	ITA10_HUMAN			22	2765	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		897			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2689G>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737591	0.49045	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.45668	0.89;0.89;0.89	5.71	4.8	0.61643	Integrin alpha-2 (1);	0.059946	0.64402	D	0.000004	T	0.44095	0.1277	L	0.57536	1.79	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.39014	-0.9634	10	0.21540	T	0.41	.	10.4187	0.44338	0.0895:0.0:0.9105:0.0	.	863;766;754;897	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	897;863;754;766	ENSP00000358310:E897Q;ENSP00000439894:E754Q;ENSP00000440011:E766Q	ENSP00000358310:E897Q	E	+	1	0	ITGA10	144249367	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.823000	0.86660	1.421000	0.47157	0.655000	0.94253	GAG		PASS	0.537	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		34	249	34	249	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155920118	155920118	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:155920118G>T	ENST00000361247.4	-	21	2958	c.2859C>A	c.(2857-2859)agC>agA	p.S953R	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.S925R|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S925R|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.S998R|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S952R|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.S954R|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	953					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S925R(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGACAGACGGCTGCTACCTT	0.627																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2857-2859)AGC>AGA		Rho/Rac guanine nucleotide exchange factor 2							74.0	75.0	75.0					1																	155920118		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155920118G>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2859C>A	1.37:g.155920118G>T	ENSP00000354837:p.Ser953Arg					ARHGEF2_uc001fmq.2_Missense_Mutation_p.S191R|ARHGEF2_uc001fmr.2_Missense_Mutation_p.S925R|ARHGEF2_uc001fms.2_Missense_Mutation_p.S952R|ARHGEF2_uc001fmu.2_Missense_Mutation_p.S997R	p.S953R	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			21	2977	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		953					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.2859C>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820160	0.50633	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.68479	-0.33;-0.21;-0.21;-0.33;-0.33	5.98	2.69	0.31865	.	0.234553	0.30060	N	0.010502	T	0.29321	0.0730	N	0.19112	0.55	0.36766	D	0.88356	B;B;B;B	0.09022	0.0;0.001;0.002;0.001	B;B;B;B	0.15484	0.013;0.001;0.002;0.004	T	0.12760	-1.0535	10	0.52906	T	0.07	-15.053	6.0099	0.19569	0.2532:0.1421:0.6047:0.0	.	997;953;952;954	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	R	925;953;954;925;952	ENSP00000315325:S925R;ENSP00000354837:S953R;ENSP00000357298:S954R;ENSP00000357299:S925R;ENSP00000314787:S952R	ENSP00000314787:S952R	S	-	3	2	ARHGEF2	154186742	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.275000	0.33144	0.872000	0.35775	0.655000	0.94253	AGC		PASS	0.627	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		46	56	46	56	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156499987	156499987	+	Silent	SNP	C	C	A	rs139798063		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:156499987C>A	ENST00000361170.2	-	34	4324	c.4314G>T	c.(4312-4314)cgG>cgT	p.R1438R	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1438					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.R1438R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGACGCGCCGCTGCTTCT	0.642																																						uc001fpf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(4312-4314)CGG>CGT		IQ motif containing GTPase activating protein 3							51.0	47.0	49.0					1																	156499987		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156499987C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4314G>T	1.37:g.156499987C>A							p.R1438R	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			34	4389	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1438					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4314G>T	CCDS1144.1																																																																																				PASS	0.642	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		4	3	4	3	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156947996	156947996	+	Splice_Site	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:156947996C>T	ENST00000361409.2	-	6	1252	c.510G>A	c.(508-510)caG>caA	p.Q170Q	ARHGEF11_ENST00000368194.3_Splice_Site_p.Q170Q	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	170					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q170Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGATTATTACCTGCAGAGGTT	0.542																																						uc001fqo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(508-510)CAG>CAA		Rho guanine nucleotide exchange factor (GEF) 11							108.0	89.0	96.0					1																	156947996		2203	4300	6503	SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156947996C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.510+1G>A	1.37:g.156947996C>T						ARHGEF11_uc001fqn.2_Silent_p.Q170Q	p.Q170Q	NM_014784	NP_055599	O15085	ARHGB_HUMAN			6	1550	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		170					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.510G>A	CCDS1162.1																																																																																				PASS	0.542	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Silent	17	9	17	9	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	158985664	158985664	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:158985664A>C	ENST00000295809.7	+	3	523	c.268A>C	c.(268-270)Aaa>Caa	p.K90Q	IFI16_ENST00000448393.2_Missense_Mutation_p.K90Q|IFI16_ENST00000359709.3_Missense_Mutation_p.K90Q|IFI16_ENST00000368132.3_Missense_Mutation_p.K90Q|IFI16_ENST00000340979.6_Missense_Mutation_p.K90Q|IFI16_ENST00000430894.2_Missense_Mutation_p.K94Q|IFI16_ENST00000368131.4_Missense_Mutation_p.K90Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	90	Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.K90Q(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATTCCAGTAAAAGGACCAGC	0.433																																						uc001ftf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)AAA>CAA		interferon, gamma-inducible protein 16							76.0	71.0	73.0					1																	158985664		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158985664A>C	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.268A>C	1.37:g.158985664A>C	ENSP00000295809:p.Lys90Gln					IFI16_uc001ftg.2_Missense_Mutation_p.K90Q|IFI16_uc010pis.1_Missense_Mutation_p.K90Q	p.K90Q	NM_005531	NP_005522	Q16666	IF16_HUMAN			4	875	+	all_hematologic(112;0.0429)		90			Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.268A>C		.	.	.	.	.	.	.	.	.	.	.	11.52	1.662645	0.29515	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.25250	3.58;1.81;2.12;3.55;3.56;3.56;3.56;3.58	2.7	1.54	0.23209	.	.	.	.	.	T	0.04724	0.0128	N	0.25380	0.74	0.09310	N	1	P;P;B	0.41848	0.528;0.763;0.063	B;B;B	0.33846	0.171;0.151;0.033	T	0.27839	-1.0062	9	0.32370	T	0.25	.	5.8703	0.18799	0.7264:0.2736:0.0:0.0	.	94;90;90	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	Q	90;90;90;90;90;90;90;94	ENSP00000352740:K90Q;ENSP00000406406:K90Q;ENSP00000407052:K90Q;ENSP00000295809:K90Q;ENSP00000342741:K90Q;ENSP00000357113:K90Q;ENSP00000357114:K90Q;ENSP00000394935:K94Q	ENSP00000295809:K90Q	K	+	1	0	IFI16	157252288	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.826000	0.04429	0.414000	0.25790	-0.714000	0.03626	AAA		PASS	0.433	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		15	20	15	20	---	---	---	---
OR10J5	127385	broad.mit.edu	37	1	159505223	159505223	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:159505223G>T	ENST00000334857.2	-	1	619	c.575C>A	c.(574-576)aCt>aAt	p.T192N		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192N(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTCATTGATAGTGGTATCAAT	0.388																																						uc010piw.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(574-576)ACT>AAT		olfactory receptor, family 10, subfamily J,							73.0	69.0	70.0					1																	159505223		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505223G>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.575C>A	1.37:g.159505223G>T	ENSP00000334441:p.Thr192Asn						p.T192N	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	575	-	all_hematologic(112;0.0429)		192			Extracellular (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.575C>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	1.138	-0.650324	0.03506	.	.	ENSG00000184155	ENST00000334857	T	0.00091	8.74	4.17	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.48642	1.525	0.09310	N	1	B	0.24092	0.097	B	0.35688	0.208	T	0.26849	-1.0091	9	0.28530	T	0.3	.	2.6206	0.04915	0.3117:0.0:0.4752:0.2131	.	192	Q8NHC4	O10J5_HUMAN	N	192	ENSP00000334441:T192N	ENSP00000334441:T192N	T	-	2	0	OR10J5	157771847	0.000000	0.05858	0.224000	0.23877	0.189000	0.23516	0.014000	0.13333	0.461000	0.27071	0.467000	0.42956	ACT		PASS	0.388	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		17	12	17	12	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162335298	162335298	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:162335298C>T	ENST00000361897.5	+	9	1446	c.1044C>T	c.(1042-1044)caC>caT	p.H348H	RP11-565P22.6_ENST00000431696.1_Silent_p.H34H|NOS1AP_ENST00000530878.1_Silent_p.H343H|NOS1AP_ENST00000493151.1_Silent_p.H53H	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	348					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.H348H(2)|p.H53H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGCTCCAGCACATCTCCCTGC	0.602																																						uc001gbv.2																			3	Substitution - coding silent(3)		lung(3)	lung(2)|upper_aerodigestive_tract(1)	3						c.(1042-1044)CAC>CAT		nitric oxide synthase 1 (neuronal) adaptor							67.0	58.0	61.0					1																	162335298		2203	4300	6503	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162335298C>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1044C>T	1.37:g.162335298C>T						NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.H343H|NOS1AP_uc009wut.1_Silent_p.H53H	p.H348H	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		9	1431	+	all_hematologic(112;0.203)		348			Potential.		B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.1044C>T	CCDS1237.1																																																																																				PASS	0.602	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		26	22	26	22	---	---	---	---
SFT2D2	375035	broad.mit.edu	37	1	168208375	168208375	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:168208375C>T	ENST00000271375.4	+	7	492	c.420C>T	c.(418-420)agC>agT	p.S140S	SFT2D2_ENST00000367829.1_3'UTR|SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2									p.S140S(1)		lung(3)|skin(1)	4	all_hematologic(923;0.215)					ATAGGTACAGCCTTTCCTTCA	0.373																																						uc001gfi.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(418-420)AGC>AGT		SFT2 domain containing 2							203.0	207.0	206.0					1																	168208375		2203	4300	6503	SO:0001819	synonymous_variant	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168208375C>T	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.420C>T	1.37:g.168208375C>T						TBX19_uc001gfj.3_Intron	p.S140S	NM_199344	NP_955376	O95562	SFT2B_HUMAN			7	483	+	all_hematologic(923;0.215)		140			Helical; Name=4; (Potential).			Silent	SNP	ENST00000271375.4	37	c.420C>T	CCDS1271.1																																																																																				PASS	0.373	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		39	48	39	48	---	---	---	---
CCDC181	57821	broad.mit.edu	37	1	169391178	169391178	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:169391178G>T	ENST00000367806.3	-	3	643	c.491C>A	c.(490-492)cCt>cAt	p.P164H	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.P164H|CCDC181_ENST00000545005.1_Missense_Mutation_p.P164H	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	164						nucleus (GO:0005634)		p.P164H(1)									TTCTAGTGGAGGAACTTCCAA	0.338																																						uc001gga.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)CCT>CAT		hypothetical protein LOC57821							94.0	98.0	97.0					1																	169391178		2203	4299	6502	SO:0001583	missense	57821							g.chr1:169391178G>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.491C>A	1.37:g.169391178G>T	ENSP00000356780:p.Pro164His					C1orf114_uc001gfz.1_Missense_Mutation_p.P164H|C1orf114_uc009wvq.1_Missense_Mutation_p.P164H|C1orf114_uc001ggb.2_Missense_Mutation_p.P164H|C1orf114_uc001ggc.1_Missense_Mutation_p.P164H	p.P164H	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	659	-	all_hematologic(923;0.208)		164					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.491C>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.135395	0.77662	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.49720	0.77;0.77;0.77;0.88	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	M	0.76002	2.32	0.44937	D	0.997952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.69749	-0.5061	9	0.87932	D	0	-11.5858	19.0152	0.92890	0.0:0.0:1.0:0.0	.	164;164;164	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	H	164	ENSP00000356779:P164H;ENSP00000356780:P164H;ENSP00000442297:P164H;ENSP00000411000:P164H	ENSP00000356779:P164H	P	-	2	0	C1orf114	167657802	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.567000	0.82357	2.486000	0.83907	0.557000	0.71058	CCT		PASS	0.338	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		32	29	32	29	---	---	---	---
FMO4	2329	broad.mit.edu	37	1	171292329	171292329	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:171292329A>T	ENST00000367749.3	+	4	649	c.319A>T	c.(319-321)Aag>Tag	p.K107*	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	107					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.K107*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CATTCAGTTTAAGGTAAGATA	0.338																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(2)|skin(1)	3						c.(319-321)AAG>TAG		flavin containing monooxygenase 4							41.0	41.0	41.0					1																	171292329		2203	4300	6503	SO:0001587	stop_gained	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171292329A>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.319A>T	1.37:g.171292329A>T	ENSP00000356723:p.Lys107*						p.K107*	NM_002022	NP_002013	P31512	FMO4_HUMAN			4	536	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		107					Q53XR0	Nonsense_Mutation	SNP	ENST00000367749.3	37	c.319A>T	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	A	37	6.453674	0.97581	.	.	ENSG00000076258	ENST00000367749	.	.	.	5.2	4.06	0.47325	.	0.419157	0.28589	N	0.014808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3969	11.9842	0.53138	0.8547:0.1453:0.0:0.0	.	.	.	.	X	107	.	ENSP00000356723:K107X	K	+	1	0	FMO4	169558953	0.998000	0.40836	1.000000	0.80357	0.897000	0.52465	0.860000	0.27871	0.813000	0.34350	0.529000	0.55759	AAG		PASS	0.338	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		19	18	19	18	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179561940	179561940	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:179561940G>T	ENST00000367614.1	+	2	549	c.190G>T	c.(190-192)Gtt>Ttt	p.V64F	TDRD5_ENST00000444136.1_Missense_Mutation_p.V64F|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Missense_Mutation_p.V64F	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	64	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.V64F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCCTGATGTTGTTCGTGTCTG	0.428																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(190-192)GTT>TTT		tudor domain containing 5							186.0	162.0	170.0					1																	179561940		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179561940G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.190G>T	1.37:g.179561940G>T	ENSP00000356586:p.Val64Phe					TDRD5_uc010pnp.1_Missense_Mutation_p.V64F|uc010pno.1_5'Flank	p.V64F	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			2	440	+			64			Lotus/OST-HTH 1.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.190G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165937	0.78339	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.40476	1.03;1.03;1.03	5.81	4.89	0.63831	.	0.223981	0.36338	N	0.002649	T	0.59891	0.2227	M	0.64404	1.975	0.51233	D	0.999918	D;D	0.71674	0.998;0.998	D;D	0.73708	0.97;0.981	T	0.61783	-0.6992	10	0.87932	D	0	-30.3463	13.0467	0.58931	0.0774:0.0:0.9226:0.0	.	64;64	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	F	64	ENSP00000356586:V64F;ENSP00000294848:V64F;ENSP00000406052:V64F	ENSP00000294848:V64F	V	+	1	0	TDRD5	177828563	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	4.214000	0.58527	2.736000	0.93811	0.655000	0.94253	GTT		PASS	0.428	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		23	45	23	45	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067840	190067840	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:190067840A>T	ENST00000367462.3	-	8	1840	c.1609T>A	c.(1609-1611)Ttg>Atg	p.L537M	BRINP3_ENST00000534846.1_Missense_Mutation_p.L435M	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	537					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.L537M(1)									TTGCTCTTCAAGGTGAGGAGC	0.453																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1609-1611)TTG>ATG		family with sequence similarity 5, member C							106.0	106.0	106.0					1																	190067840		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067840A>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.1609T>A	1.37:g.190067840A>T	ENSP00000356432:p.Leu537Met					FAM5C_uc010pot.1_Missense_Mutation_p.L435M	p.L537M	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1841	-	Prostate(682;0.198)		537					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1609T>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559842	0.45590	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26067	2.01;1.76	5.64	2.03	0.26663	.	0.000000	0.64402	D	0.000003	T	0.44244	0.1284	M	0.72894	2.215	0.45662	D	0.998585	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.969	T	0.29731	-1.0002	10	0.87932	D	0	.	7.1423	0.25562	0.6648:0.0:0.3352:0.0	.	435;537	B7Z260;Q76B58	.;FAM5C_HUMAN	M	537;435	ENSP00000356432:L537M;ENSP00000438022:L435M	ENSP00000356432:L537M	L	-	1	2	FAM5C	188334463	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.761000	0.47589	0.431000	0.26258	-0.326000	0.08463	TTG		PASS	0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		19	69	19	69	---	---	---	---
OPTC	26254	broad.mit.edu	37	1	203472730	203472730	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:203472730A>C	ENST00000367222.2	+	7	997	c.881A>C	c.(880-882)cAc>cCc	p.H294P		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	294					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.H294P(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCGAGGAGCACAAACACACC	0.592																																						uc001gzu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)CAC>CCC		opticin precursor							114.0	107.0	109.0					1																	203472730		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472730A>C	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.881A>C	1.37:g.203472730A>C	ENSP00000356191:p.His294Pro						p.H294P	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	997	+			294					Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.881A>C	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.617543	0.28801	.	.	ENSG00000188770	ENST00000367222	T	0.02369	4.32	4.17	4.17	0.49024	.	0.384183	0.25701	N	0.028864	T	0.01254	0.0041	N	0.01168	-0.975	0.30147	N	0.803371	B	0.15719	0.014	B	0.17098	0.017	T	0.30909	-0.9962	10	0.34782	T	0.22	-28.7736	8.6701	0.34145	0.807:0.193:0.0:0.0	.	294	Q9UBM4	OPT_HUMAN	P	294	ENSP00000356191:H294P	ENSP00000356191:H294P	H	+	2	0	OPTC	201739353	0.897000	0.30589	0.130000	0.21974	0.349000	0.29174	2.747000	0.47475	1.750000	0.51863	0.413000	0.27773	CAC		PASS	0.592	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		13	39	13	39	---	---	---	---
FLVCR1	28982	broad.mit.edu	37	1	213046038	213046038	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:213046038G>A	ENST00000366971.4	+	3	1100	c.902G>A	c.(901-903)cGg>cAg	p.R301Q		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	301					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)	p.R301Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAAAAACCTCGGTATCCACCA	0.313																																					Esophageal Squamous(199;2235 2952 19233 26256)	uc001hjt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)CGG>CAG		feline leukemia virus subgroup C cellular							58.0	62.0	61.0					1																	213046038		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213046038G>A	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.902G>A	1.37:g.213046038G>A	ENSP00000355938:p.Arg301Gln						p.R301Q	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	3	1100	+			301					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.902G>A	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266089	0.23136	.	.	ENSG00000162769	ENST00000366971	T	0.58210	0.35	5.43	-10.9	0.00192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.278250	0.05134	N	0.493051	T	0.20618	0.0496	N	0.01576	-0.805	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.36407	-0.9749	10	0.41790	T	0.15	-26.1667	10.6071	0.45400	0.2615:0.4577:0.2808:0.0	.	301	Q9Y5Y0	FLVC1_HUMAN	Q	301	ENSP00000355938:R301Q	ENSP00000355938:R301Q	R	+	2	0	FLVCR1	211112661	0.000000	0.05858	0.001000	0.08648	0.862000	0.49288	-0.468000	0.06656	-1.925000	0.01063	-1.124000	0.02001	CGG		PASS	0.313	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		30	11	30	11	---	---	---	---
MARC1	64757	broad.mit.edu	37	1	220971262	220971262	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:220971262C>G	ENST00000366910.5	+	4	845	c.659C>G	c.(658-660)tCg>tGg	p.S220W	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	220	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)	p.S220W(1)									TCTGAGGCGTCGCTGGCGGAT	0.438																																						uc001hms.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)TCG>TGG		MOCO sulphurase C-terminal domain containing 1							123.0	117.0	119.0					1																	220971262		2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220971262C>G	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.659C>G	1.37:g.220971262C>G	ENSP00000355877:p.Ser220Trp					MOSC1_uc001hmt.2_Missense_Mutation_p.S220W	p.S220W	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN		GBM - Glioblastoma multiforme(131;0.0358)	4	907	+			220			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.659C>G	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194524	0.22037	.	.	ENSG00000186205	ENST00000366910;ENST00000443880	T;T	0.48836	0.8;0.8	4.82	2.95	0.34219	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.095606	0.46145	D	0.000316	T	0.77405	0.4125	H	0.97491	4.015	0.36168	D	0.848597	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85224	0.1028	10	0.87932	D	0	0.538	11.2291	0.48901	0.0:0.8483:0.0:0.1517	.	220;220	Q5VT66-2;Q5VT66	.;MOSC1_HUMAN	W	220;33	ENSP00000355877:S220W;ENSP00000409634:S33W	ENSP00000355877:S220W	S	+	2	0	MOSC1	219037885	0.953000	0.32496	0.001000	0.08648	0.001000	0.01503	3.275000	0.51639	0.565000	0.29255	-0.219000	0.12488	TCG		PASS	0.438	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		15	67	15	67	---	---	---	---
TRIM11	81559	broad.mit.edu	37	1	228582761	228582761	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:228582761C>A	ENST00000284551.6	-	6	1330	c.1052G>T	c.(1051-1053)cGc>cTc	p.R351L	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Missense_Mutation_p.R226L	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	351	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R351L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CCAGCTGGTGCGGTCCCCAAC	0.687																																						uc001hss.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(1051-1053)CGC>CTC		tripartite motif-containing 11							56.0	55.0	55.0					1																	228582761		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582761C>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1052G>T	1.37:g.228582761C>A	ENSP00000284551:p.Arg351Leu					TRIM11_uc010pvx.1_Missense_Mutation_p.R350L	p.R351L	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			6	1307	-		Prostate(94;0.0724)	351			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.1052G>T	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944668	0.53079	.	.	ENSG00000154370	ENST00000284551	T	0.60920	0.15	5.17	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.156215	0.30820	N	0.008801	T	0.49490	0.1560	L	0.50919	1.6	0.25967	N	0.982543	B;B	0.30146	0.27;0.173	B;B	0.34590	0.186;0.175	T	0.50890	-0.8774	10	0.72032	D	0.01	.	6.0199	0.19623	0.0:0.6974:0.0:0.3026	.	350;351	Q96F44-3;Q96F44	.;TRI11_HUMAN	L	351	ENSP00000284551:R351L	ENSP00000284551:R351L	R	-	2	0	TRIM11	226649384	0.000000	0.05858	0.530000	0.27963	0.896000	0.52359	0.730000	0.26043	1.292000	0.44672	0.655000	0.94253	CGC		PASS	0.687	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		25	13	25	13	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229613401	229613401	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:229613401C>G	ENST00000261396.3	-	13	1790	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	NUP133_ENST00000537506.1_Missense_Mutation_p.D551H	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	567					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.D567H(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCCATCAGGTCTACACTGATT	0.448																																						uc001htn.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(1699-1701)GAC>CAC		nucleoporin 133kDa							92.0	79.0	84.0					1																	229613401		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229613401C>G		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1699G>C	1.37:g.229613401C>G	ENSP00000261396:p.Asp567His						p.D567H	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			13	1791	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	567					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1699G>C	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658401	0.88154	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.29655	1.6;1.56;1.6	5.12	5.12	0.69794	.	0.044008	0.85682	D	0.000000	T	0.57080	0.2029	M	0.80422	2.495	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	T	0.63305	-0.6667	10	0.72032	D	0.01	-15.6327	18.9268	0.92548	0.0:1.0:0.0:0.0	.	567	Q8WUM0	NU133_HUMAN	H	567;567;567;551	ENSP00000261396:D567H;ENSP00000355640:D567H;ENSP00000443496:D551H	ENSP00000261396:D567H	D	-	1	0	NUP133	227680024	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	7.445000	0.80570	2.534000	0.85438	0.655000	0.94253	GAC		PASS	0.448	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		17	9	17	9	---	---	---	---
AKT3	10000	broad.mit.edu	37	1	243858999	243858999	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:243858999C>A	ENST00000366539.1	-	3	266	c.66G>T	c.(64-66)tgG>tgT	p.W22C	AKT3_ENST00000336199.5_Missense_Mutation_p.W22C|AKT3_ENST00000263826.5_Missense_Mutation_p.W22C|AKT3_ENST00000366540.1_Missense_Mutation_p.W22C			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	22	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.W22C(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATCTTGGCCTCCAGTTTTTTA	0.343																																						uc001iab.1																			3	Substitution - Missense(3)		lung(3)	stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(64-66)TGG>TGT		AKT3 kinase isoform 1							74.0	76.0	75.0					1																	243858999		2202	4299	6501	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243858999C>A	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.66G>T	1.37:g.243858999C>A	ENSP00000355497:p.Trp22Cys					AKT3_uc001hzz.1_Missense_Mutation_p.W22C	p.W22C	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		2	147	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	22			PH.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.66G>T	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295830	0.81025	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.66	5.66	0.87406	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93566	0.7946	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94822	0.7988	10	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	22;22	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	C	22	ENSP00000336943:W22C;ENSP00000355498:W22C;ENSP00000355497:W22C;ENSP00000263826:W22C;ENSP00000447820:W22C	ENSP00000263826:W22C	W	-	3	0	AKT3	241925622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGG		PASS	0.343	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		22	13	22	13	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247615256	247615256	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:247615256C>A	ENST00000318749.6	-	1	52	c.29G>T	c.(28-30)gGg>gTg	p.G10V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G10V(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGGGAGTCCCCTAAGAAGCT	0.483																																						uc010pyx.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(28-30)GGG>GTG		olfactory receptor, family 2, subfamily B,							108.0	121.0	117.0					1																	247615256		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247615256C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.29G>T	1.37:g.247615256C>A	ENSP00000325682:p.Gly10Val						p.G10V	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	29	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	10			Extracellular (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.29G>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125507	0.06795	.	.	ENSG00000177535	ENST00000318749	T	0.36520	1.25	4.81	0.738	0.18319	.	0.568803	0.14634	N	0.307625	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.34372	0.451	B	0.30029	0.11	T	0.13229	-1.0517	10	0.66056	D	0.02	.	3.951	0.09369	0.0:0.5255:0.1786:0.2959	.	10	Q5JQS5	OR2BB_HUMAN	V	10	ENSP00000325682:G10V	ENSP00000325682:G10V	G	-	2	0	OR2B11	245681879	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.432000	0.06956	0.046000	0.15833	0.544000	0.68410	GGG		PASS	0.483	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		15	21	15	21	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570299	248570299	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:248570299T>C	ENST00000366474.1	+	1	1004	c.1004T>C	c.(1003-1005)cTg>cCg	p.L335P		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L335P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ACACCCATGCTGAACCCCCTC	0.532																																						uc010pzm.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1003-1005)CTG>CCG		olfactory receptor, family 2, subfamily T,							177.0	179.0	179.0					1																	248570299		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570299T>C	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.1004T>C	1.37:g.248570299T>C	ENSP00000355430:p.Leu335Pro						p.L335P	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1004	+	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)		335			Helical; Name=7; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.1004T>C	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	20.5	4.003579	0.74932	.	.	ENSG00000175143	ENST00000366474	T	0.50813	0.73	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30177	U	0.010237	T	0.70404	0.3220	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75777	-0.3198	10	0.87932	D	0	.	14.0308	0.64615	0.0:0.0:0.0:1.0	.	335	O43869	OR2T1_HUMAN	P	335	ENSP00000355430:L335P	ENSP00000355430:L335P	L	+	2	0	OR2T1	246636922	0.710000	0.27896	0.998000	0.56505	0.988000	0.76386	5.147000	0.64851	1.951000	0.56629	0.533000	0.62120	CTG		PASS	0.532	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			32	122	32	122	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1079263	1079263	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:1079263G>T	ENST00000308624.5	+	2	261	c.132G>T	c.(130-132)cgG>cgT	p.R44R	SNTG2_ENST00000407292.1_Silent_p.R44R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	44					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.R44R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGACATCCGGCTGAAGCTGA	0.473																																						uc002qwq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(130-132)CGG>CGT		syntrophin, gamma 2							125.0	124.0	125.0					2																	1079263		2006	4186	6192	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1079263G>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.132G>T	2.37:g.1079263G>T						SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Silent_p.R44R	p.R44R	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	2	260	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	44					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.132G>T	CCDS46220.1																																																																																				PASS	0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		14	45	14	45	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1251115	1251115	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:1251115G>T	ENST00000308624.5	+	12	1034	c.905G>T	c.(904-906)tGg>tTg	p.W302L	SNTG2_ENST00000407292.1_Missense_Mutation_p.W175L	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	302	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.W302L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATATGGGGTGGGTAAATGAG	0.502																																						uc002qwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(904-906)TGG>TTG		syntrophin, gamma 2							55.0	58.0	57.0					2																	1251115		2023	4183	6206	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1251115G>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.905G>T	2.37:g.1251115G>T	ENSP00000311837:p.Trp302Leu					SNTG2_uc010ewi.2_Missense_Mutation_p.W175L	p.W302L	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	12	1033	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	302			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.905G>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819512	0.50633	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;D	0.89343	1.42;-2.5	5.23	4.35	0.52113	Pleckstrin homology domain (1);	0.063498	0.64402	D	0.000002	D	0.93916	0.8053	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.94118	0.7377	10	0.72032	D	0.01	.	12.3439	0.55109	0.083:0.0:0.917:0.0	.	175;302	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	L	302;175	ENSP00000311837:W302L;ENSP00000385020:W175L	ENSP00000311837:W302L	W	+	2	0	SNTG2	1233666	1.000000	0.71417	0.998000	0.56505	0.269000	0.26545	7.282000	0.78630	1.193000	0.43086	0.650000	0.86243	TGG		PASS	0.502	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		8	20	8	20	---	---	---	---
KLF11	8462	broad.mit.edu	37	2	10188590	10188590	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:10188590A>T	ENST00000305883.1	+	3	1288	c.1126A>T	c.(1126-1128)Atc>Ttc	p.I376F	KLF11_ENST00000540845.1_Missense_Mutation_p.I359F|KLF11_ENST00000535335.1_Missense_Mutation_p.I359F	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	376					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I376F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TCCAGTGTTCATCACCTCTAG	0.572											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	uc002raf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1126-1128)ATC>TTC		Kruppel-like factor 11							106.0	105.0	105.0					2																	10188590		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188590A>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1126A>T	2.37:g.10188590A>T	ENSP00000307023:p.Ile376Phe		OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_uc010yjc.1_Missense_Mutation_p.I359F	p.I376F	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1288	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		376					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.1126A>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857921	0.32791	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.14144	2.54;2.53;2.53	5.4	0.203	0.15195	.	0.331798	0.37437	N	0.002087	T	0.12817	0.0311	M	0.76838	2.35	0.40709	D	0.982555	B	0.21905	0.062	B	0.18871	0.023	T	0.08310	-1.0728	9	.	.	.	.	2.31	0.04184	0.6023:0.1315:0.1402:0.126	.	376	O14901	KLF11_HUMAN	F	376;359;359	ENSP00000307023:I376F;ENSP00000444690:I359F;ENSP00000442722:I359F	.	I	+	1	0	KLF11	10106041	0.985000	0.35326	0.465000	0.27155	0.497000	0.33675	0.325000	0.19628	0.022000	0.15160	0.172000	0.16884	ATC		PASS	0.572	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		21	61	21	61	---	---	---	---
NTSR2	23620	broad.mit.edu	37	2	11802343	11802343	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:11802343C>A	ENST00000306928.5	-	2	682	c.648G>T	c.(646-648)gtG>gtT	p.V216V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	216					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.V216V(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCAAGGGGAGCACGAAGGACA	0.642																																						uc002rbq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)GTG>GTT		neurotensin receptor 2	Levocabastine(DB01106)						92.0	101.0	98.0					2																	11802343		2203	4299	6502	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11802343C>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.648G>T	2.37:g.11802343C>A							p.V216V	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	722	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		216			Extracellular (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.648G>T	CCDS1681.1																																																																																				PASS	0.642	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			24	90	24	90	---	---	---	---
VSNL1	7447	broad.mit.edu	37	2	17773402	17773402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:17773402G>T	ENST00000406397.1	+	2	586	c.61G>T	c.(61-63)Gag>Tag	p.E21*	VSNL1_ENST00000404666.2_Nonsense_Mutation_p.E21*|VSNL1_ENST00000295156.4_Nonsense_Mutation_p.E21*			P62760	VISL1_HUMAN	visinin-like 1	21					calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.E21*(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAGAGCACAGAGTTTAATGA	0.458																																						uc002rcm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(61-63)GAG>TAG		visinin-like 1							157.0	152.0	154.0					2																	17773402		2203	4300	6503	SO:0001587	stop_gained	7447						calcium ion binding	g.chr2:17773402G>T		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.61G>T	2.37:g.17773402G>T	ENSP00000384719:p.Glu21*						p.E21*	NM_003385	NP_003376	P62760	VISL1_HUMAN			2	445	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		21					D6W515|P28677|P29103|P42323|Q9UM20	Nonsense_Mutation	SNP	ENST00000406397.1	37	c.61G>T	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	G	39	7.338362	0.98221	.	.	ENSG00000163032	ENST00000404666;ENST00000457525;ENST00000295156;ENST00000451533;ENST00000406397	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6387	0.91387	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000295156:E21X	E	+	1	0	VSNL1	17636883	1.000000	0.71417	0.967000	0.41034	0.945000	0.59286	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	GAG		PASS	0.458	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		27	52	27	52	---	---	---	---
APOB	338	broad.mit.edu	37	2	21229833	21229833	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:21229833C>A	ENST00000233242.1	-	26	10034	c.9907G>T	c.(9907-9909)Gag>Tag	p.E3303*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3303					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E3303*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGCAGCTCTAATGATGGC	0.443																																						uc002red.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9907-9909)GAG>TAG		apolipoprotein B precursor	Atorvastatin(DB01076)						88.0	88.0	88.0					2																	21229833		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229833C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9907G>T	2.37:g.21229833C>A	ENSP00000233242:p.Glu3303*						p.E3303*	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10035	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3303					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.9907G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	48	14.718170	0.99807	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	4.8	3.91	0.45181	.	0.107777	0.40385	N	0.001117	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.1578	0.72759	0.0:0.8584:0.1416:0.0	.	.	.	.	X	3303	.	ENSP00000233242:E3303X	E	-	1	0	APOB	21083338	0.941000	0.31946	0.051000	0.19133	0.010000	0.07245	2.542000	0.45744	0.981000	0.38548	0.563000	0.77884	GAG		PASS	0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	49	17	49	---	---	---	---
RAB10	10890	broad.mit.edu	37	2	26350784	26350784	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:26350784G>A	ENST00000264710.4	+	5	982	c.483G>A	c.(481-483)aaG>aaA	p.K161K	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	161					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.K161K(1)		lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCGAAAAGGCGTTCCTCA	0.348																																						uc002rgv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(481-483)AAG>AAA		ras-related GTP-binding protein RAB10							183.0	177.0	179.0					2																	26350784		2203	4300	6503	SO:0001819	synonymous_variant	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26350784G>A	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.483G>A	2.37:g.26350784G>A							p.K161K	NM_016131	NP_057215	P61026	RAB10_HUMAN			5	1232	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		161					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Silent	SNP	ENST00000264710.4	37	c.483G>A	CCDS1720.1																																																																																				PASS	0.348	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		21	64	21	64	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32820204	32820204	+	Silent	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:32820204A>G	ENST00000421745.2	+	68	13739	c.13605A>G	c.(13603-13605)ttA>ttG	p.L4535L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4535					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.L4535L(1)|p.L4507L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGAAGAAATTACAGTTTGGTA	0.303																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13603-13605)TTA>TTG		baculoviral IAP repeat-containing 6							38.0	41.0	40.0					2																	32820204		2202	4298	6500	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32820204A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13605A>G	2.37:g.32820204A>G							p.L4535L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			68	13739	+	Acute lymphoblastic leukemia(172;0.155)		4535					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.13605A>G	CCDS33175.2																																																																																				PASS	0.303	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	8	5	8	---	---	---	---
CALM2	805	broad.mit.edu	37	2	47388885	47388885	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:47388885C>G	ENST00000272298.7	-	5	555	c.398G>C	c.(397-399)gGt>gCt	p.G133A	CALM2_ENST00000484408.1_5'UTR|RP11-761B3.1_ENST00000422269.1_Intron|CALM2_ENST00000409563.1_Missense_Mutation_p.G180A	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	133	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)|p.G133A(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TTGACCATCACCATCAATATC	0.383																																						uc002rvt.2																			3	Whole gene deletion(2)|Substitution - Missense(1)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)|lung(1)		0						c.(397-399)GGT>GCT		calmodulin 2	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						180.0	159.0	166.0					2																	47388885		2203	4300	6503	SO:0001583	missense	805				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr2:47388885C>G		CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.398G>C	2.37:g.47388885C>G	ENSP00000272298:p.Gly133Ala					C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_RNA	p.G133A	NM_001743	NP_001734	P62158	CALM_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		5	556	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	133			4.|EF-hand 4.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000272298.7	37	c.398G>C	CCDS1832.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515927	0.64634	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	T;T;T	0.74632	-0.86;-0.86;-0.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86991	0.2110	7	0.87932	D	0	.	19.5064	0.95118	0.0:1.0:0.0:0.0	.	.	.	.	A	133;171;180	ENSP00000272298:G133A;ENSP00000411440:G171A;ENSP00000387065:G180A	ENSP00000272298:G133A	G	-	2	0	CALM2	47242389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.698000	0.92095	0.655000	0.94253	GGT		PASS	0.383	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3	NM_001743		13	55	13	55	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58312046	58312046	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:58312046G>C	ENST00000435505.2	+	7	962	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	VRK2_ENST00000417641.2_Missense_Mutation_p.E73Q|VRK2_ENST00000412104.2_Missense_Mutation_p.E73Q|VRK2_ENST00000340157.4_Missense_Mutation_p.E73Q|VRK2_ENST00000440705.2_Missense_Mutation_p.E50Q			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E73Q(1)|p.E73*(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GTTATTTTCAGAACTTAAATT	0.279																																						uc002rzo.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)	ovary(1)	1						c.(217-219)GAA>CAA		vaccinia related kinase 2 isoform 2							19.0	20.0	19.0					2																	58312046		2181	4269	6450	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58312046G>C	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.217G>C	2.37:g.58312046G>C	ENSP00000408002:p.Glu73Gln					VRK2_uc010fcb.2_Missense_Mutation_p.E73Q|VRK2_uc002rzs.2_Missense_Mutation_p.E73Q|VRK2_uc002rzr.2_Missense_Mutation_p.E73Q|VRK2_uc010fcc.2_Intron|VRK2_uc002rzv.2_Missense_Mutation_p.E73Q|VRK2_uc010fcd.2_Missense_Mutation_p.E50Q|VRK2_uc002rzp.2_Missense_Mutation_p.E73Q|VRK2_uc010ypg.1_Missense_Mutation_p.E73Q|VRK2_uc002rzq.2_Missense_Mutation_p.E73Q|VRK2_uc002rzu.2_Missense_Mutation_p.E73Q|VRK2_uc002rzt.2_5'UTR|VRK2_uc010yph.1_5'Flank	p.E73Q	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			7	962	+			73			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.217G>C	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.340835	0.81911	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705;ENST00000428021	D;D;D;D;D;T	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;0.7	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	M	0.89904	3.07	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94606	0.7800	10	0.87932	D	0	-29.6085	18.95	0.92638	0.0:0.0:1.0:0.0	.	73;73;73	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	Q	73;73;73;73;73;73;50;78	ENSP00000408002:E73Q;ENSP00000402375:E73Q;ENSP00000404156:E73Q;ENSP00000342381:E73Q;ENSP00000398323:E50Q;ENSP00000404961:E78Q	ENSP00000342381:E73Q	E	+	1	0	VRK2	58165550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.952000	0.87827	2.775000	0.95449	0.586000	0.80456	GAA		PASS	0.279	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		9	17	9	17	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63609202	63609202	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:63609202A>G	ENST00000272321.7	-	11	1990	c.1463T>C	c.(1462-1464)cTg>cCg	p.L488P	WDPCP_ENST00000409120.1_Missense_Mutation_p.L296P|WDPCP_ENST00000409199.1_Missense_Mutation_p.L296P|WDPCP_ENST00000409562.3_Missense_Mutation_p.L488P|WDPCP_ENST00000398544.3_Missense_Mutation_p.L329P|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	488					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L488P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GATGTCTATCAGGCCCAGCTG	0.408																																						uc002sch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1462-1464)CTG>CCG		hypothetical protein LOC51057 isoform 2							70.0	68.0	68.0					2																	63609202		1930	4140	6070	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63609202A>G		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1463T>C	2.37:g.63609202A>G	ENSP00000272321:p.Leu488Pro					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.L329P|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.L296P|C2orf86_uc002sci.1_Missense_Mutation_p.L464P	p.L488P	NM_015910	NP_056994	O95876	FRITZ_HUMAN			11	1909	-			488					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1463T>C	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.418431	0.25552	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.41	-6.92	0.01644	.	0.525534	0.19128	N	0.122011	T	0.22781	0.0550	N	0.25647	0.755	0.38958	D	0.958488	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.003;0.004;0.001	T	0.01182	-1.1426	10	0.45353	T	0.12	8.3887	9.9642	0.41715	0.372:0.0:0.518:0.1099	.	488;488;329	O95876-2;O95876;O95876-3	.;FRITZ_HUMAN;.	P	488;296;296;329;488	ENSP00000272321:L488P;ENSP00000386592:L296P;ENSP00000386769:L296P;ENSP00000381552:L329P;ENSP00000387222:L488P	ENSP00000272321:L488P	L	-	2	0	WDPCP	63462706	0.300000	0.24435	0.001000	0.08648	0.993000	0.82548	0.705000	0.25675	-1.773000	0.01290	0.533000	0.62120	CTG		PASS	0.408	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		10	19	10	19	---	---	---	---
MDH1	4190	broad.mit.edu	37	2	63824696	63824696	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:63824696G>T	ENST00000233114.8	+	4	798	c.363G>T	c.(361-363)aaG>aaT	p.K121N	MDH1_ENST00000544381.1_Missense_Mutation_p.K32N|MDH1_ENST00000409476.1_Intron|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000394423.1_Missense_Mutation_p.K121N|MDH1_ENST00000539945.1_Missense_Mutation_p.K139N	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	121					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)	p.K121N(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						AATACGCCAAGAAGTCAGTTA	0.363																																						uc002scj.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(361-363)AAG>AAT		cytosolic malate dehydrogenase	NADH(DB00157)						75.0	75.0	75.0					2																	63824696		2203	4300	6503	SO:0001583	missense	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63824696G>T		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.363G>T	2.37:g.63824696G>T	ENSP00000233114:p.Lys121Asn					MDH1_uc010ypv.1_Missense_Mutation_p.K139N|MDH1_uc010ypw.1_Missense_Mutation_p.K26N	p.K121N	NM_005917	NP_005908	P40925	MDHC_HUMAN			4	419	+			121					B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	c.363G>T	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213792	0.58452	.	.	ENSG00000014641	ENST00000233114;ENST00000436321;ENST00000432309;ENST00000539945;ENST00000544381;ENST00000394423	D;D;D;D	0.86627	-1.54;-2.15;-1.55;-1.54	5.62	2.83	0.33086	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90923	0.7147	M	0.71296	2.17	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.68353	0.917;0.957	D	0.88829	0.3304	10	0.34782	T	0.22	-19.6079	10.8931	0.47006	0.2809:0.0:0.7191:0.0	.	139;121	F5H098;P40925	.;MDHC_HUMAN	N	121;76;139;139;32;121	ENSP00000233114:K121N;ENSP00000410073:K139N;ENSP00000438144:K139N;ENSP00000377945:K121N	ENSP00000233114:K121N	K	+	3	2	MDH1	63678200	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.575000	0.67430	0.860000	0.35481	-0.136000	0.14681	AAG		PASS	0.363	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			8	25	8	25	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71817372	71817372	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:71817372G>T	ENST00000258104.3	+	32	3751	c.3474G>T	c.(3472-3474)atG>atT	p.M1158I	DYSF_ENST00000409366.1_Missense_Mutation_p.M1159I|DYSF_ENST00000409762.1_Missense_Mutation_p.M1175I|DYSF_ENST00000409744.1_Missense_Mutation_p.M1145I|DYSF_ENST00000409651.1_Missense_Mutation_p.M1190I|DYSF_ENST00000410041.1_Missense_Mutation_p.M1176I|DYSF_ENST00000413539.2_Missense_Mutation_p.M1189I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.M1176I|DYSF_ENST00000394120.2_Missense_Mutation_p.M1159I|DYSF_ENST00000429174.2_Missense_Mutation_p.M1158I|DYSF_ENST00000409582.3_Missense_Mutation_p.M1175I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1158	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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.M1158I(1)|p.M1176I(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						GCTGCTACATGTACCAGGCCC	0.572																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3472-3474)ATG>ATT		dysferlin isoform 8							124.0	112.0	116.0					2																	71817372		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71817372G>T	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.3474G>T	2.37:g.71817372G>T	ENSP00000258104:p.Met1158Ile					DYSF_uc010feg.2_Missense_Mutation_p.M1189I|DYSF_uc010feh.2_Missense_Mutation_p.M1144I|DYSF_uc002sig.3_Missense_Mutation_p.M1144I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.M1158I|DYSF_uc010fef.2_Missense_Mutation_p.M1175I|DYSF_uc010fei.2_Missense_Mutation_p.M1175I|DYSF_uc010fek.2_Missense_Mutation_p.M1176I|DYSF_uc010fej.2_Missense_Mutation_p.M1145I|DYSF_uc010fel.2_Missense_Mutation_p.M1145I|DYSF_uc010feo.2_Missense_Mutation_p.M1190I|DYSF_uc010fem.2_Missense_Mutation_p.M1159I|DYSF_uc010fen.2_Missense_Mutation_p.M1176I|DYSF_uc002sif.2_Missense_Mutation_p.M1159I|DYSF_uc010yqy.1_Missense_Mutation_p.M39I	p.M1158I	NM_003494	NP_003485	O75923	DYSF_HUMAN			32	3850	+			1158			Cytoplasmic (Potential).|C2 4.		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.3474G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	7.403	0.633154	0.14322	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.89	5.89	0.94794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.159568	0.56097	D	0.000024	T	0.34279	0.0892	N	0.00123	-2.06	0.35710	D	0.816303	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23990	0.007;0.024;0.001;0.007;0.0;0.0;0.0;0.0;0.007;0.0;0.095;0.004;0.007;0.008	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22152	0.034;0.022;0.004;0.022;0.004;0.004;0.004;0.001;0.022;0.004;0.016;0.022;0.034;0.038	T	0.56950	-0.7894	10	0.02654	T	1	-26.2888	15.7619	0.78091	0.0:0.0:1.0:0.0	.	1190;1176;1159;1145;1176;1145;1175;1144;1189;1175;1158;1144;1159;1158	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	I	1189;1175;1175;1158;1158;1190;1159;1145;1159;1176;1176	ENSP00000407046:M1189I;ENSP00000387137:M1175I;ENSP00000386547:M1175I;ENSP00000398305:M1158I;ENSP00000258104:M1158I;ENSP00000386683:M1190I;ENSP00000377678:M1159I;ENSP00000386285:M1145I;ENSP00000386512:M1159I;ENSP00000386881:M1176I;ENSP00000386617:M1176I	ENSP00000258104:M1158I	M	+	3	0	DYSF	71670880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.999000	0.40806	2.793000	0.96121	0.655000	0.94253	ATG		PASS	0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		15	39	15	39	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746335	77746335	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:77746335G>C	ENST00000409093.1	-	3	996	c.660C>G	c.(658-660)atC>atG	p.I220M	LRRTM4_ENST00000409282.1_Missense_Mutation_p.I221M|LRRTM4_ENST00000409088.3_Missense_Mutation_p.I220M|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I221M|LRRTM4_ENST00000409884.1_Missense_Mutation_p.I220M			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	220					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.I220M(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAGCAAAGTTGATCTTGGAAA	0.448																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(658-660)ATC>ATG		leucine rich repeat transmembrane neuronal 4							66.0	65.0	65.0					2																	77746335		1879	4105	5984	SO:0001583	missense	80059					integral to membrane		g.chr2:77746335G>C	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.660C>G	2.37:g.77746335G>C	ENSP00000386357:p.Ile220Met					LRRTM4_uc002snq.2_Missense_Mutation_p.I220M|LRRTM4_uc002sns.2_Missense_Mutation_p.I220M|LRRTM4_uc002snt.2_Missense_Mutation_p.I221M	p.I220M	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1075	-			220			LRR 7.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.660C>G	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970376	0.18659	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41	5.62	5.62	0.85841	.	0.105218	0.64402	D	0.000005	T	0.18341	0.0440	M	0.89478	3.035	0.51012	D	0.999904	B;B;B	0.25105	0.072;0.118;0.072	B;B;B	0.35607	0.101;0.206;0.101	T	0.01033	-1.1474	10	0.66056	D	0.02	.	13.9095	0.63857	0.0:0.1525:0.8475:0.0	.	221;220;220	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	M	221;220;220;220;221	ENSP00000387228:I221M;ENSP00000387297:I220M;ENSP00000386357:I220M;ENSP00000386236:I220M;ENSP00000386286:I221M	ENSP00000386236:I220M	I	-	3	3	LRRTM4	77599843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.312000	0.59154	2.648000	0.89879	0.563000	0.77884	ATC		PASS	0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		6	29	6	29	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80772182	80772182	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:80772182G>T	ENST00000402739.4	+	9	1371	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	CTNNA2_ENST00000466387.1_Missense_Mutation_p.D456Y|CTNNA2_ENST00000541047.1_Missense_Mutation_p.D456Y|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D490Y|CTNNA2_ENST00000343114.3_Missense_Mutation_p.D135Y|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D456Y|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D456Y	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	456					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.D456Y(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CACCCAGATTGACAGCCTGTG	0.478																																						uc010ysh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1366-1368)GAC>TAC		catenin, alpha 2 isoform 1							74.0	77.0	76.0					2																	80772182		1976	4175	6151	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80772182G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1366G>T	2.37:g.80772182G>T	ENSP00000384638:p.Asp456Tyr					CTNNA2_uc010yse.1_Missense_Mutation_p.D456Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D456Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D456Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D88Y	p.D456Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN			9	1371	+			456					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1366G>T		.	.	.	.	.	.	.	.	.	.	G	23.3	4.404222	0.83230	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.34521	1.04	0.80722	D	1	P;D;D;D	0.58970	0.936;0.984;0.964;0.964	P;D;P;P	0.65323	0.69;0.934;0.785;0.785	T	0.47649	-0.9101	9	.	.	.	.	18.1632	0.89716	0.0:0.0:1.0:0.0	.	88;456;456;456	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Y	456;456;490;456;456;456;135;121	ENSP00000418191:D456Y;ENSP00000419295:D456Y;ENSP00000355398:D490Y;ENSP00000384638:D456Y;ENSP00000444675:D456Y;ENSP00000441705:D456Y;ENSP00000341500:D135Y;ENSP00000386587:D121Y	.	D	+	1	0	CTNNA2	80625693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.346000	0.79739	0.655000	0.94253	GAC		PASS	0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	23	8	23	---	---	---	---
SH2D6	284948	broad.mit.edu	37	2	85663660	85663660	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:85663660C>T	ENST00000340326.2	+	4	644	c.483C>T	c.(481-483)agC>agT	p.S161S	SH2D6_ENST00000389938.2_Silent_p.S129S|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	161	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.							p.S161S(1)		central_nervous_system(1)|lung(2)	3						ACAGACACAGCGGCAGCCGGG	0.642																																						uc002spq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(481-483)AGC>AGT		SH2 domain containing 6							77.0	66.0	70.0					2																	85663660		2202	4300	6502	SO:0001819	synonymous_variant	284948							g.chr2:85663660C>T	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.483C>T	2.37:g.85663660C>T						SH2D6_uc002spo.2_RNA|SH2D6_uc002spp.2_RNA	p.S161S	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN			4	644	+			161			SH2.		A6ND14|Q6R306	Silent	SNP	ENST00000340326.2	37	c.483C>T	CCDS1976.1																																																																																				PASS	0.642	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		8	31	8	31	---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95943263	95943263	+	Silent	SNP	A	A	G	rs139763415	byFrequency	TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:95943263A>G	ENST00000317620.9	+	7	1057	c.924A>G	c.(922-924)gcA>gcG	p.A308A	PROM2_ENST00000542147.1_Silent_p.A308A|PROM2_ENST00000403131.2_Silent_p.A308A|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Silent_p.A308A	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	308					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.A308A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGATTGTGCAGGGGCCCTGA	0.677													A|||	6	0.00119808	0.0	0.0029	5008	,	,		17489	0.0		0.004	False		,,,				2504	0.0					uc002suh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(922-924)GCA>GCG		prominin 2 precursor		A	,,	4,4400		0,4,2198	22.0	26.0	25.0		924,924,924	-10.5	0.0	2	dbSNP_134	25	46,8552		0,46,4253	no	coding-synonymous,coding-synonymous,coding-synonymous	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	,,	0,50,6451	GG,GA,AA		0.535,0.0908,0.3846	,,	308/835,308/835,308/835	95943263	50,12952	2202	4299	6501	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95943263A>G	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.924A>G	2.37:g.95943263A>G						PROM2_uc002sui.2_Silent_p.A308A|PROM2_uc002suj.2_Intron|PROM2_uc002suk.2_Silent_p.A308A|PROM2_uc002sul.2_Intron	p.A308A	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			7	1057	+			308			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.924A>G	CCDS2012.1																																																																																				PASS	0.677	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		11	18	11	18	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540314	133540314	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:133540314C>A	ENST00000409261.1	-	14	4443	c.4070G>T	c.(4069-4071)aGc>aTc	p.S1357I	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1357I|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1357								p.S1357I(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTGCTGAAGCTGCCTGAGCT	0.617																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4069-4071)AGC>ATC		Nck-associated protein 5 isoform 1							39.0	40.0	40.0					2																	133540314		1907	4122	6029	SO:0001583	missense	344148						protein binding	g.chr2:133540314C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4070G>T	2.37:g.133540314C>A	ENSP00000387128:p.Ser1357Ile					NCKAP5_uc002ttq.2_Intron	p.S1357I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4444	-			1357					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4070G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099551	0.37048	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12569	2.67;2.67	5.5	4.63	0.57726	.	0.149748	0.30142	U	0.010309	T	0.19846	0.0477	L	0.32530	0.975	0.19300	N	0.999977	D	0.57571	0.98	P	0.58331	0.837	T	0.03453	-1.1035	10	0.54805	T	0.06	.	9.1168	0.36762	0.0:0.7869:0.0:0.2131	.	1357	O14513	NCKP5_HUMAN	I	1357	ENSP00000387128:S1357I;ENSP00000380603:S1357I	ENSP00000380603:S1357I	S	-	2	0	NCKAP5	133256784	0.218000	0.23608	0.674000	0.29902	0.704000	0.40688	1.223000	0.32527	1.541000	0.49316	0.655000	0.94253	AGC		PASS	0.617	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		13	13	13	13	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137814067	137814067	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:137814067G>T	ENST00000409968.1	+	3	395	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	THSD7B_ENST00000413152.2_Missense_Mutation_p.G42W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G73W|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	73	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.G73W(1)|p.G42W(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCATGTTGACGGGTGGACAAG	0.527																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(124-126)GGG>TGG		thrombospondin, type I, domain containing 7B							80.0	86.0	84.0					2																	137814067		2017	4197	6214	SO:0001583	missense	80731							g.chr2:137814067G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.217G>T	2.37:g.137814067G>T	ENSP00000387145:p.Gly73Trp					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.G42W	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	124	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.124G>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.901881	0.92035	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62941	-0.01;-0.01;-0.01	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86814	0.2000	10	0.56958	D	0.05	.	19.8459	0.96707	0.0:0.0:1.0:0.0	.	42	C9JKN6	.	W	73;73;42	ENSP00000387145:G73W;ENSP00000272643:G73W;ENSP00000413841:G42W	ENSP00000272643:G73W	G	+	1	0	THSD7B	137530537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.788000	0.95919	0.585000	0.79938	GGG		PASS	0.527	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		14	16	14	16	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152520222	152520222	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:152520222G>A	ENST00000172853.10	-	45	5750	c.5603C>T	c.(5602-5604)tCc>tTc	p.S1868F	NEB_ENST00000409198.1_Missense_Mutation_p.S1868F|NEB_ENST00000397345.3_Missense_Mutation_p.S1868F|NEB_ENST00000603639.1_Missense_Mutation_p.S1868F|NEB_ENST00000427231.2_Missense_Mutation_p.S1868F|NEB_ENST00000604864.1_Missense_Mutation_p.S1868F			P20929	NEBU_HUMAN	nebulin	1868					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S1868F(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGTGGAAGGAGGTCTTGGA	0.537																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(5602-5604)TCC>TTC		nebulin isoform 3							118.0	113.0	115.0					2																	152520222		2042	4198	6240	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152520222G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5603C>T	2.37:g.152520222G>A	ENSP00000172853:p.Ser1868Phe						p.S1868F	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	45	5794	-			1868					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5603C>T		.	.	.	.	.	.	.	.	.	.	G	18.36	3.607184	0.66558	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.55	5.55	0.83447	.	0.121540	0.53938	D	0.000053	T	0.33411	0.0862	L	0.34521	1.04	0.80722	D	1	P	0.50156	0.932	P	0.52554	0.702	T	0.03818	-1.1001	10	0.66056	D	0.02	.	9.6711	0.40013	0.0:0.1228:0.63:0.2472	.	1868	P20929	NEBU_HUMAN	F	1868	ENSP00000386259:S1868F;ENSP00000380505:S1868F;ENSP00000416578:S1868F;ENSP00000172853:S1868F	ENSP00000172853:S1868F	S	-	2	0	NEB	152228468	1.000000	0.71417	0.987000	0.45799	0.919000	0.55068	3.896000	0.56266	2.772000	0.95346	0.650000	0.86243	TCC		PASS	0.537	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	21	9	21	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155098644	155098644	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:155098644T>A	ENST00000392825.3	+	5	980	c.413T>A	c.(412-414)gTg>gAg	p.V138E	GALNT13_ENST00000409237.1_Missense_Mutation_p.V138E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	138	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V138E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTTTACAGTGTGATAAATCGT	0.378																																						uc002tyr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(412-414)GTG>GAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							128.0	118.0	121.0					2																	155098644		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155098644T>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.413T>A	2.37:g.155098644T>A	ENSP00000376570:p.Val138Glu					GALNT13_uc002tyt.3_Missense_Mutation_p.V138E|GALNT13_uc010foc.1_5'UTR	p.V138E	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			5	980	+			138			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.413T>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.995198	0.93167	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.62788	0.0;0.0	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	H	0.99368	4.535	0.80722	D	1	D;D	0.63046	0.992;0.988	D;D	0.72625	0.976;0.978	D	0.92959	0.6387	10	0.87932	D	0	.	14.5744	0.68235	0.0:0.0:0.0:1.0	.	138;138	Q08ER7;Q8IUC8	.;GLT13_HUMAN	E	138	ENSP00000376570:V138E;ENSP00000387239:V138E	ENSP00000376570:V138E	V	+	2	0	GALNT13	154806890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.113000	0.64640	2.118000	0.64928	0.472000	0.43445	GTG		PASS	0.378	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		17	27	17	27	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467453	164467453	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:164467453C>A	ENST00000333129.3	-	3	1203	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	297					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.G297C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAACCATGGCCCTGGTAGGTG	0.577																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(889-891)GGC>TGC		fidgetin							50.0	54.0	53.0					2																	164467453		1988	4154	6142	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467453C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.889G>T	2.37:g.164467453C>A	ENSP00000333836:p.Gly297Cys						p.G297C	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1200	-			297					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.889G>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370072	0.24771	.	.	ENSG00000182263	ENST00000333129	D	0.92249	-3.0	5.94	3.93	0.45458	.	0.314836	0.34725	N	0.003724	D	0.82277	0.5002	N	0.08118	0	0.38340	D	0.944053	B	0.18013	0.025	B	0.27170	0.077	T	0.78811	-0.2057	10	0.52906	T	0.07	-4.9424	7.4577	0.27276	0.0:0.6672:0.0:0.3328	.	297	Q5HY92	FIGN_HUMAN	C	297	ENSP00000333836:G297C	ENSP00000333836:G297C	G	-	1	0	FIGN	164175699	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.657000	0.37366	1.521000	0.48983	0.563000	0.77884	GGC		PASS	0.577	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		23	31	23	31	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165947258	165947258	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:165947258G>T	ENST00000360093.3	-	28	5896	c.5405C>A	c.(5404-5406)cCc>cAc	p.P1802H	SCN3A_ENST00000283254.7_Missense_Mutation_p.P1802H|SCN3A_ENST00000540861.1_Missense_Mutation_p.P285H|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1753H|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1802					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P1802H(1)|p.P1753H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCGCATCGGGATCAAACTT	0.453																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(5404-5406)CCC>CAC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						126.0	126.0	126.0					2																	165947258		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947258G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5405C>A	2.37:g.165947258G>T	ENSP00000353206:p.Pro1802His					SCN3A_uc010zcy.1_Missense_Mutation_p.P285H|SCN3A_uc002ucy.2_Missense_Mutation_p.P1753H|SCN3A_uc002ucz.2_Missense_Mutation_p.P1753H	p.P1802H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			28	5897	-			1802					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.5405C>A		.	.	.	.	.	.	.	.	.	.	G	18.88	3.716848	0.68844	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.50973	0.1647	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	0.991;0.984;1.0	P;D;D	0.83275	0.85;0.929;0.996	T	0.64300	-0.6440	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1753;1753;1802	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	1802;1802;1753;285	ENSP00000353206:P1802H;ENSP00000283254:P1802H;ENSP00000386726:P1753H;ENSP00000439920:P285H	ENSP00000283254:P1802H	P	-	2	0	SCN3A	165655504	1.000000	0.71417	0.902000	0.35471	0.988000	0.76386	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		29	28	29	28	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166166936	166166936	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:166166936G>T	ENST00000375437.2	+	7	1091	c.801G>T	c.(799-801)ttG>ttT	p.L267F	SCN2A_ENST00000283256.6_Missense_Mutation_p.L267F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L267F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L267F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	267					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L267F(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATAGGATTGCAGTTGTTCA	0.408																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(799-801)TTG>TTT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						222.0	212.0	215.0					2																	166166936		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166166936G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.801G>T	2.37:g.166166936G>T	ENSP00000364586:p.Leu267Phe					SCN2A_uc002udd.2_Missense_Mutation_p.L267F|SCN2A_uc002ude.2_Missense_Mutation_p.L267F	p.L267F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			7	1091	+			267			I.|Helical; Name=S5 of repeat I; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.801G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777242	0.49786	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	5.27	-9.01	0.00744	Ion transport (1);	0.123925	0.36628	N	0.002487	D	0.98661	0.9551	H	0.94462	3.54	0.47949	D	0.999551	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97492	1.0054	10	0.87932	D	0	.	10.7419	0.46158	0.21:0.1689:0.6211:0.0	.	267;267	Q99250-2;Q99250	.;SCN2A_HUMAN	F	267	ENSP00000406454:L267F;ENSP00000364586:L267F;ENSP00000349973:L267F;ENSP00000283256:L267F;ENSP00000364576:L267F	ENSP00000283256:L267F	L	+	3	2	SCN2A	165875182	0.452000	0.25713	0.656000	0.29637	0.904000	0.53231	-0.258000	0.08733	-1.308000	0.02318	-1.193000	0.01689	TTG		PASS	0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		42	60	42	60	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167262800	167262800	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:167262800T>G	ENST00000409855.1	-	25	4465	c.4339A>C	c.(4339-4341)Aaa>Caa	p.K1447Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1447					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K1447Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCAGACCATTTACTGTTGAAA	0.383																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(4339-4341)AAA>CAA		sodium channel, voltage-gated, type VII, alpha							134.0	127.0	129.0					2																	167262800		1873	4134	6007	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262800T>G	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4339A>C	2.37:g.167262800T>G	ENSP00000386796:p.Lys1447Gln						p.K1447Q	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			25	4466	-			1447						Missense_Mutation	SNP	ENST00000409855.1	37	c.4339A>C	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	9.942	1.217720	0.22373	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97870	-4.58	4.89	-3.31	0.04988	Ion transport (1);	0.499085	0.20211	N	0.096882	D	0.91666	0.7366	N	0.22421	0.69	0.19300	N	0.999979	B	0.15473	0.013	B	0.15052	0.012	D	0.83807	0.0239	10	0.34782	T	0.22	.	5.7639	0.18215	0.0:0.3185:0.2648:0.4167	.	1447	Q01118	SCN7A_HUMAN	Q	1447	ENSP00000386796:K1447Q	ENSP00000259060:K1447Q	K	-	1	0	SCN7A	166971046	0.000000	0.05858	0.990000	0.47175	0.791000	0.44710	-0.110000	0.10824	-0.401000	0.07644	-0.326000	0.08463	AAA		PASS	0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			35	43	35	43	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170488342	170488342	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:170488342G>T	ENST00000260970.3	+	11	1048	c.828G>T	c.(826-828)gaG>gaT	p.E276D	PPIG_ENST00000462903.1_Missense_Mutation_p.E276D|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.E261D|PPIG_ENST00000448752.2_Missense_Mutation_p.E276D	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	276					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.E276D(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GTCCAGAAGAGATCCCTCCTA	0.413																																						uc002uez.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(826-828)GAG>GAT		peptidylprolyl isomerase G	L-Proline(DB00172)						140.0	125.0	130.0					2																	170488342		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170488342G>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.828G>T	2.37:g.170488342G>T	ENSP00000260970:p.Glu276Asp					PPIG_uc010fpx.2_Missense_Mutation_p.E261D|PPIG_uc010fpy.2_Missense_Mutation_p.E269D|PPIG_uc002ufa.2_Missense_Mutation_p.E276D|PPIG_uc002ufb.2_Missense_Mutation_p.E276D|PPIG_uc002ufd.2_Missense_Mutation_p.E273D	p.E276D	NM_004792	NP_004783	Q13427	PPIG_HUMAN			11	1048	+			276					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.828G>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235541	0.79800	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.32272	1.94;1.46;1.85;1.9;1.94	5.3	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	L	0.52266	1.64	0.47183	D	0.999343	D;D;D;D;D	0.76494	0.999;0.999;0.994;0.99;0.999	D;D;D;D;D	0.78314	0.991;0.987;0.97;0.971;0.987	T	0.28902	-1.0029	10	0.66056	D	0.02	-13.2701	8.2138	0.31499	0.3499:0.0:0.6501:0.0	.	269;261;261;276;276	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	D	276;276;269;261;276;276	ENSP00000260970:E276D;ENSP00000408683:E269D;ENSP00000386245:E261D;ENSP00000435987:E276D;ENSP00000407083:E276D	ENSP00000260970:E276D	E	+	3	2	PPIG	170196588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.009000	0.49552	0.522000	0.28464	0.467000	0.42956	GAG		PASS	0.413	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			24	31	24	31	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178762881	178762881	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:178762881G>T	ENST00000286063.6	-	4	1523	c.1206C>A	c.(1204-1206)gaC>gaA	p.D402E	PDE11A_ENST00000449286.2_Missense_Mutation_p.D44E|PDE11A_ENST00000358450.4_Missense_Mutation_p.D152E|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.D44E	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	402	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.D152E(1)|p.D402E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTTTCTCCAGGTCAGTCTGTT	0.383									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1204-1206)GAC>GAA		phosphodiesterase 11A isoform 4							122.0	114.0	117.0					2																	178762881		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178762881G>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1206C>A	2.37:g.178762881G>T	ENSP00000286063:p.Asp402Glu					PDE11A_uc002ulr.2_Missense_Mutation_p.D152E|PDE11A_uc002uls.1_Missense_Mutation_p.D44E|PDE11A_uc002ult.1_Missense_Mutation_p.D152E|PDE11A_uc002ulu.1_Missense_Mutation_p.D44E	p.D402E	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		4	1524	-			402			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1206C>A	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.59|18.59	3.657736|3.657736	0.67586|0.67586	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286|ENST00000433879	T;T;T;T|.	0.70399|.	-0.48;-0.48;-0.48;-0.48|.	5.99|5.99	4.18|4.18	0.49190|0.49190	GAF (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60011|0.60011	0.2236|0.2236	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	P;P|.	0.44690|.	0.729;0.841|.	B;P|.	0.45913|.	0.21;0.497|.	T|T	0.55730|0.55730	-0.8095|-0.8095	10|5	0.62326|.	D|.	0.03|.	.|.	10.337|10.337	0.43856|0.43856	0.2022:0.0:0.7978:0.0|0.2022:0.0:0.7978:0.0	.|.	152;402|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	E|N	402;152;44;77;44|41	ENSP00000286063:D402E;ENSP00000351232:D152E;ENSP00000386539:D44E;ENSP00000390599:D44E|.	ENSP00000286063:D402E|.	D|T	-|-	3|2	2|0	PDE11A|PDE11A	178471127|178471127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.197000|4.197000	0.58413|0.58413	0.850000|0.850000	0.35239|0.35239	0.655000|0.655000	0.94253|0.94253	GAC|ACC		PASS	0.383	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			12	25	12	25	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179613060	179613060	+	Intron	SNP	C	C	T	rs368328651		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:179613060C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.E4689E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTACTTTTCTCCACCATAG	0.313																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14065-14067)GAG>GAA		titin isoform novex-3							73.0	81.0	78.0					2																	179613060		2202	4294	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613060C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4790G>A	2.37:g.179613060C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E4689E	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14291	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.14067G>A																																																																																					PASS	0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	37	39	37	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196723359	196723359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:196723359C>A	ENST00000312428.6	-	43	8006	c.7906G>T	c.(7906-7908)Gaa>Taa	p.E2636*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2636	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.E2636*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCAACTTCTACAGACTCT	0.398																																						uc002utj.3																			1	Substitution - Nonsense(1)		lung(1)	skin(10)|ovary(2)	12						c.(7906-7908)GAA>TAA		dynein, axonemal, heavy chain 7							185.0	171.0	175.0					2																	196723359		1890	4119	6009	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196723359C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7906G>T	2.37:g.196723359C>A	ENSP00000311273:p.Glu2636*						p.E2636*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			43	8007	-			2636			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.7906G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	47	13.550562	0.99749	.	.	ENSG00000118997	ENST00000312428	.	.	.	6.16	5.29	0.74685	.	0.000000	0.45867	U	0.000340	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	17.0687	0.86567	0.0:0.8636:0.1364:0.0	.	.	.	.	X	2636	.	ENSP00000311273:E2636X	E	-	1	0	DNAH7	196431604	1.000000	0.71417	0.258000	0.24420	0.006000	0.05464	7.716000	0.84723	1.603000	0.50134	-0.219000	0.12488	GAA		PASS	0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		32	30	32	30	---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197631415	197631415	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:197631415G>A	ENST00000263956.3	-	17	2501	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	804					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.L804L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACGTAAACTGAGGTATCGAT	0.413																																						uc002uts.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|pancreas(1)	7						c.(2410-2412)CTC>CTT		general transcription factor IIIC, polypeptide							87.0	87.0	87.0					2																	197631415		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197631415G>A	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2412C>T	2.37:g.197631415G>A						GTF3C3_uc010zgu.1_Silent_p.L775L	p.L804L	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			17	2502	-			804					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.2412C>T	CCDS2316.1																																																																																				PASS	0.413	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			18	20	18	20	---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202519560	202519560	+	Splice_Site	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:202519560G>T	ENST00000409474.3	-	18	1588	c.1381C>A	c.(1381-1383)Cac>Aac	p.H461N	MPP4_ENST00000447335.2_Splice_Site_p.H454N|MPP4_ENST00000409143.1_Splice_Site_p.H403N|MPP4_ENST00000396886.3_Splice_Site_p.H386N|MPP4_ENST00000315506.7_Splice_Site_p.H417N|MPP4_ENST00000359962.5_Splice_Site_p.H461N|MPP4_ENST00000428900.2_Splice_Site_p.H437N	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	461	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.H461N(2)		kidney(1)|lung(11)	12						CTAAACATACGTGGCACAGCA	0.358																																						uc002uyk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1381-1383)CAC>AAC		membrane protein, palmitoylated 4							75.0	72.0	73.0					2																	202519560		1842	4086	5928	SO:0001630	splice_region_variant	58538					cytoplasm	protein binding	g.chr2:202519560G>T	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1381+1C>A	2.37:g.202519560G>T						MPP4_uc002uyi.3_Missense_Mutation_p.H79N|MPP4_uc010ftj.2_Missense_Mutation_p.H454N|MPP4_uc010zhq.1_Missense_Mutation_p.H430N|MPP4_uc010zhr.1_Missense_Mutation_p.H437N|MPP4_uc010zhs.1_Missense_Mutation_p.H386N|MPP4_uc002uyj.3_Missense_Mutation_p.H426N|MPP4_uc010zht.1_Missense_Mutation_p.H403N|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.H417N	p.H461N	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			18	1589	-			461			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.1381C>A	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684444	0.88639	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	5.55	5.55	0.83447	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.994;0.976;0.996;0.996;0.994;0.996;0.996;0.995	T	0.60276	-0.7295	9	.	.	.	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	403;386;437;430;417;454;461;426	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	N	461;417;386;461;426;390;437;403;454	ENSP00000387278:H461N;ENSP00000319363:H417N;ENSP00000353047:H461N;ENSP00000416781:H437N;ENSP00000387293:H403N;ENSP00000406160:H454N	.	H	-	1	0	MPP4	202227805	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.548000	0.67255	2.894000	0.99253	0.655000	0.94253	CAC		PASS	0.358	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		Missense_Mutation	3	1	3	1	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206165406	206165406	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:206165406A>T	ENST00000406610.2	+	17	2545	c.2338A>T	c.(2338-2340)Agc>Tgc	p.S780C	PARD3B_ENST00000349953.3_Missense_Mutation_p.S780C|PARD3B_ENST00000358768.2_Missense_Mutation_p.S718C|PARD3B_ENST00000462231.1_Missense_Mutation_p.S780C|PARD3B_ENST00000351153.1_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	780					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.S718C(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAATGAGAGCTTTAGAGC	0.498																																						uc002var.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2338-2340)AGC>TGC		par-3 partitioning defective 3 homolog B isoform							100.0	103.0	102.0					2																	206165406		1933	4142	6075	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206165406A>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2338A>T	2.37:g.206165406A>T	ENSP00000385848:p.Ser780Cys					PARD3B_uc010fub.1_Missense_Mutation_p.S780C|PARD3B_uc002vao.1_Missense_Mutation_p.S780C|PARD3B_uc002vap.1_Missense_Mutation_p.S718C|PARD3B_uc002vaq.1_Intron	p.S780C	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	17	2545	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	780					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2338A>T		.	.	.	.	.	.	.	.	.	.	A	23.4	4.406015	0.83230	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.35421	1.31;1.31;1.31	5.61	5.61	0.85477	.	0.216001	0.46758	D	0.000269	T	0.61476	0.2350	M	0.76170	2.325	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.65957	-0.6042	10	0.87932	D	0	.	15.8028	0.78468	1.0:0.0:0.0:0.0	.	780;718;780	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	C	780;718;780	ENSP00000385848:S780C;ENSP00000351618:S718C;ENSP00000340280:S780C	ENSP00000340280:S780C	S	+	1	0	PARD3B	205873651	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.339000	0.96797	2.134000	0.65973	0.459000	0.35465	AGC		PASS	0.498	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		26	30	26	30	---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206927738	206927738	+	Start_Codon_SNP	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:206927738C>A	ENST00000403263.1	-	3	407	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	1					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.M1I(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCCCTTCATACATCACGTGAC	0.428																																						uc002vaz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>ATT		INO80 complex subunit D							87.0	77.0	80.0					2																	206927738		2034	4204	6238	SO:0001582	initiator_codon_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206927738C>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.3G>T	2.37:g.206927738C>A	ENSP00000384198:p.Met1Ile						p.M1I	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			3	408	-			1					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.3G>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139716	0.94560	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000414320	T	0.39056	1.1	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	.	.	.	0.80722	D	1	D	0.58268	0.982	D	0.68943	0.961	T	0.69304	-0.5180	9	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1	Q53TQ3-2	.	I	1	ENSP00000384198:M1I	ENSP00000233270:M1I	M	-	3	0	INO80D	206635983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	ATG		PASS	0.428	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759	Missense_Mutation	5	7	5	7	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215840712	215840712	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:215840712C>T	ENST00000272895.7	-	34	5397	c.5178G>A	c.(5176-5178)ctG>ctA	p.L1726L	ABCA12_ENST00000389661.4_Silent_p.L1408L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1726					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.L1726L(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGATCTTCTTCAGCAACAGTC	0.448																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(5176-5178)CTG>CTA		ATP-binding cassette, sub-family A, member 12							126.0	109.0	115.0					2																	215840712		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215840712C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5178G>A	2.37:g.215840712C>T						ABCA12_uc002vev.2_Silent_p.L1408L|ABCA12_uc010zjn.1_Silent_p.L653L	p.L1726L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	34	5398	-		Renal(323;0.127)	1726					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.5178G>A	CCDS33372.1																																																																																				PASS	0.448	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		17	23	17	23	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225642886	225642886	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:225642886T>A	ENST00000258390.7	-	51	5838	c.5771A>T	c.(5770-5772)gAc>gTc	p.D1924V	DOCK10_ENST00000409592.3_Missense_Mutation_p.D1918V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1924	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1922V(1)|p.D431V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTCACATTGTCTGCTCCAAA	0.353																																						uc010fwz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(5770-5772)GAC>GTC		dedicator of cytokinesis 10							111.0	100.0	103.0					2																	225642886		1841	4088	5929	SO:0001583	missense	55619						GTP binding	g.chr2:225642886T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5771A>T	2.37:g.225642886T>A	ENSP00000258390:p.Asp1924Val					DOCK10_uc002vob.2_Missense_Mutation_p.D1918V|DOCK10_uc002voa.2_Missense_Mutation_p.D580V	p.D1924V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	51	6010	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1924			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5771A>T	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	30|30	5.056626|5.056626	0.93793|0.93793	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.21191|.	2.02;2.02|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80613|0.80613	0.4656|0.4656	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.60575|.	0.96;0.977;0.988|.	P;P;P|.	0.62649|.	0.719;0.905;0.905|.	T|T	0.83062|0.83062	-0.0147|-0.0147	10|5	0.87932|.	D|.	0|.	.|.	16.5932|16.5932	0.84781|0.84781	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1924;1918;586|.	Q96BY6;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.|.	V|S	1918;1924;431|73	ENSP00000386694:D1918V;ENSP00000258390:D1924V|.	ENSP00000258390:D1924V|.	D|R	-|-	2|3	0|2	DOCK10|DOCK10	225351130|225351130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	GAC|AGA		PASS	0.353	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			4	17	4	17	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233246046	233246046	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:233246046C>A	ENST00000392027.2	+	10	1547	c.1278C>A	c.(1276-1278)ggC>ggA	p.G426G	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.G426G(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697																																						uc002vsq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1276-1278)GGC>GGA		placental alkaline phosphatase preproprotein							55.0	65.0	62.0					2																	233246046		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246046C>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1278C>A	2.37:g.233246046C>A						ALPP_uc002vsr.2_RNA	p.G426G	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1443	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	426					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.1278C>A	CCDS2490.1																																																																																				PASS	0.697	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		18	36	18	36	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241536337	241536337	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr2:241536337C>T	ENST00000391984.2	+	9	1917	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.P574L	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	574	Domain III 2.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.P574L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GAGTTCCACCCCATCGGCTTC	0.642																																						uc002vzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(1)	6						c.(1720-1722)CCC>CTC		calpain 10 isoform a							32.0	38.0	36.0					2																	241536337		2023	4168	6191	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241536337C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1721C>T	2.37:g.241536337C>T	ENSP00000375844:p.Pro574Leu					CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.P446L|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.P574L	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	9	1905	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	574			Domain III 2.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1721C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072955	0.36566	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	D;D	0.88354	-2.37;-2.37	5.04	5.04	0.67666	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.700710	0.14133	N	0.339277	D	0.94545	0.8243	M	0.81239	2.535	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73380	0.98;0.953	D	0.94378	0.7602	10	0.72032	D	0.01	.	15.8593	0.79009	0.0:1.0:0.0:0.0	.	574;574	B7WPF5;Q9HC96	.;CAN10_HUMAN	L	574	ENSP00000375844:P574L;ENSP00000384422:P574L	ENSP00000375844:P574L	P	+	2	0	CAPN10	241185010	1.000000	0.71417	0.999000	0.59377	0.231000	0.25187	6.930000	0.75858	2.338000	0.79540	0.655000	0.94253	CCC		PASS	0.642	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		8	18	8	18	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	391221	391221	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:391221T>A	ENST00000256509.2	+	10	1670	c.1028T>A	c.(1027-1029)gTa>gAa	p.V343E	CHL1_ENST00000397491.2_Missense_Mutation_p.V327E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.V343E(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CACGTTATAGTAGAAGGTACC	0.388																																						uc003bou.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(979-981)GTA>GAA		cell adhesion molecule with homology to L1CAM							100.0	101.0	101.0					3																	391221		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:391221T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1028T>A	3.37:g.391221T>A	ENSP00000256509:p.Val343Glu					CHL1_uc003bot.2_Missense_Mutation_p.V343E|CHL1_uc003bow.1_Missense_Mutation_p.V327E|CHL1_uc011asi.1_Missense_Mutation_p.V343E	p.V327E	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	9	1251	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	327			Ig-like C2-type 3.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.980T>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234812	0.79800	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.79352	-1.26;-1.26	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.961	D;D;D	0.85130	0.997;0.994;0.952	D	0.94299	0.7535	10	0.87932	D	0	.	14.3745	0.66865	0.0:0.0:0.0:1.0	.	327;327;343	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	E	343;327	ENSP00000256509:V343E;ENSP00000380628:V327E	ENSP00000256509:V343E	V	+	2	0	CHL1	366221	1.000000	0.71417	0.660000	0.29694	0.715000	0.41141	7.125000	0.77193	2.197000	0.70478	0.528000	0.53228	GTA		PASS	0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		34	47	34	47	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	404903	404903	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:404903G>T	ENST00000256509.2	+	14	2064	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	CHL1-AS1_ENST00000608098.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.Q458H|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Q474H(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCCATAGGCAGAAGGTGGAAG	0.453																																						uc003bou.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1372-1374)CAG>CAT		cell adhesion molecule with homology to L1CAM							84.0	79.0	81.0					3																	404903		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:404903G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1422G>T	3.37:g.404903G>T	ENSP00000256509:p.Gln474His					CHL1_uc003bot.2_Missense_Mutation_p.Q474H|CHL1_uc003bow.1_Missense_Mutation_p.Q458H|CHL1_uc011asi.1_Missense_Mutation_p.Q474H	p.Q458H	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	1645	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	458			Ig-like C2-type 5.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1374G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327963	0.41197	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.27402	1.67;1.67	5.11	3.28	0.37604	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340189	0.30859	N	0.008723	T	0.39358	0.1075	L	0.46157	1.445	0.25180	N	0.99021	P;P;P	0.48294	0.908;0.633;0.606	P;P;P	0.58520	0.84;0.726;0.605	T	0.08027	-1.0742	10	0.48119	T	0.1	.	8.1433	0.31097	0.198:0.0:0.802:0.0	.	458;458;474	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	H	474;458	ENSP00000256509:Q474H;ENSP00000380628:Q458H	ENSP00000256509:Q474H	Q	+	3	2	CHL1	379903	0.998000	0.40836	0.956000	0.39512	0.832000	0.47134	0.651000	0.24873	1.263000	0.44181	0.650000	0.86243	CAG		PASS	0.453	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		6	22	6	22	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	432834	432834	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:432834C>T	ENST00000256509.2	+	22	3425	c.2783C>T	c.(2782-2784)cCa>cTa	p.P928L	CHL1_ENST00000397491.2_Missense_Mutation_p.P912L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.P928L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTCAAACACCAGAAGGAGGT	0.408																																						uc003bou.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2734-2736)CCA>CTA		cell adhesion molecule with homology to L1CAM							67.0	71.0	69.0					3																	432834		2201	4298	6499	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432834C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2783C>T	3.37:g.432834C>T	ENSP00000256509:p.Pro928Leu					CHL1_uc003bot.2_Missense_Mutation_p.P928L|CHL1_uc003bow.1_Missense_Mutation_p.P912L|CHL1_uc011asi.1_Missense_Mutation_p.P928L	p.P912L	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	21	3006	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	912			Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2735C>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978473|4.978473	0.92982|0.92982	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	T;T|.	0.51325|.	0.71;0.71|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.056380|.	0.64402|.	D|.	0.000001|.	T|.	0.66436|.	0.2789|.	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.972;0.996|.	T|.	0.60188|.	-0.7312|.	10|.	0.87932|.	D|.	0|.	.|.	19.9244|19.9244	0.97099|0.97099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	912;912;928|.	B3KX75;O00533;O00533-2|.	.;CHL1_HUMAN;.|.	L|X	928;912|115	ENSP00000256509:P928L;ENSP00000380628:P912L|.	ENSP00000256509:P928L|.	P|Q	+|+	2|1	0|0	CHL1|CHL1	407834|407834	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	7.087000|7.087000	0.76893|0.76893	2.712000|2.712000	0.92718|0.92718	0.655000|0.655000	0.94253|0.94253	CCA|CAG		PASS	0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		17	24	17	24	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7494373	7494373	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:7494373G>T	ENST00000357716.4	+	6	1528	c.1254G>T	c.(1252-1254)atG>atT	p.M418I	GRM7_ENST00000402647.2_Missense_Mutation_p.M418I|GRM7_ENST00000403881.1_Missense_Mutation_p.M418I|GRM7_ENST00000486284.1_Missense_Mutation_p.M418I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.M418I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	418					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.M418I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TCTATGCTATGGCTCACGCCC	0.483																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(1252-1254)ATG>ATT		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						124.0	103.0	110.0					3																	7494373		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7494373G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1254G>T	3.37:g.7494373G>T	ENSP00000350348:p.Met418Ile					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.M418I|GRM7_uc003bql.2_Missense_Mutation_p.M418I|GRM7_uc003bqn.1_Missense_Mutation_p.M1I|GRM7_uc010hch.1_5'UTR	p.M418I	NM_000844	NP_000835	Q14831	GRM7_HUMAN			6	1528	+			418			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1254G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979868	0.53827	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.039553	0.85682	D	0.000000	T	0.72285	0.3441	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.30068	0.058;0.267;0.072;0.029	B;B;B;B	0.27380	0.025;0.079;0.043;0.02	T	0.67352	-0.5692	10	0.23302	T	0.38	.	18.8061	0.92038	0.0:0.0:1.0:0.0	.	418;173;418;418	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	I	418;418;418;418;418;418;418;75	ENSP00000350348:M418I;ENSP00000417536:M418I;ENSP00000373987:M418I;ENSP00000385664:M418I;ENSP00000384585:M418I;ENSP00000395035:M75I	ENSP00000350348:M418I	M	+	3	0	GRM7	7469373	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	ATG		PASS	0.483	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	21	4	21	---	---	---	---
RARB	5915	broad.mit.edu	37	3	25611395	25611395	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:25611395G>T	ENST00000404969.1	+	4	616	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	RARB_ENST00000330688.4_Missense_Mutation_p.G199C|RARB_ENST00000458646.1_Missense_Mutation_p.G87C|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.G87C			P10826	RARB_HUMAN	retinoic acid receptor, beta	206	Ligand-binding.			G -> A (in Ref. 2; CAA68398). {ECO:0000305}.	embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G199C(1)|p.G206C(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTGCCAGCTGGGTAAATACAC	0.502																																						uc011awl.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|pancreas(1)	3						c.(616-618)GGT>TGT		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						98.0	92.0	94.0					3																	25611395		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611395G>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.616G>T	3.37:g.25611395G>T	ENSP00000385865:p.Gly206Cys					RARB_uc003cdi.1_Missense_Mutation_p.G87C|RARB_uc003cdh.2_Missense_Mutation_p.G199C	p.G206C	NM_016152	NP_057236	P10826	RARB_HUMAN			4	682	+			206	G -> A (in Ref. 2; CAA68398).		Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.616G>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.442576	0.83993	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	4.35	4.35	0.52113	Nuclear hormone receptor, ligand-binding (2);	0.110120	0.64402	D	0.000009	T	0.64238	0.2580	M	0.86953	2.85	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.65874	0.939;0.912	T	0.72347	-0.4321	10	0.62326	D	0.03	.	17.4746	0.87656	0.0:0.0:1.0:0.0	.	206;199	P10826;F1D8S6	RARB_HUMAN;.	C	206;206;206;87;199;87	ENSP00000373282:G206C;ENSP00000385865:G206C;ENSP00000398840:G87C;ENSP00000332296:G199C;ENSP00000391391:G87C	ENSP00000332296:G199C	G	+	1	0	RARB	25586399	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.572000	0.98179	2.423000	0.82170	0.556000	0.70494	GGT		PASS	0.502	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		15	28	15	28	---	---	---	---
RPL14	9045	broad.mit.edu	37	3	40503622	40503622	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:40503622G>A	ENST00000396203.2	+	6	679	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_Missense_Mutation_p.A183T	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	183	4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.				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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.A183T(1)							KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCCCAGAAAGCCACAGGCCA	0.547																																						uc003ckg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)GCC>ACC		ribosomal protein L14							19.0	18.0	19.0					3																	40503622		2203	4300	6503	SO:0001583	missense	9045				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:40503622G>A	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"""L ribosomal proteins"""	10305	protein-coding gene	gene with protein product	"""CAG-ISL 7"", ""60S ribosomal protein L14"""					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.547G>A	3.37:g.40503622G>A	ENSP00000379506:p.Ala183Thr					RPL14_uc003ckh.2_Missense_Mutation_p.A183T|RPL14_uc003cki.2_Missense_Mutation_p.A134T	p.A183T	NM_003973	NP_003964	P50914	RL14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	6	598	+			183			4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.|1-3.		Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Missense_Mutation	SNP	ENST00000396203.2	37	c.547G>A	CCDS43070.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205819	0.58234	.	.	ENSG00000188846	ENST00000338970;ENST00000396203	T;T	0.52526	0.66;0.66	4.43	3.54	0.40534	.	.	.	.	.	T	0.33731	0.0873	L	0.27053	0.805	0.80722	D	1	B	0.29531	0.247	B	0.30572	0.117	T	0.08973	-1.0696	9	0.32370	T	0.25	.	10.6382	0.45577	0.0:0.1953:0.8047:0.0	.	183	P50914	RL14_HUMAN	T	183	ENSP00000345156:A183T;ENSP00000379506:A183T	ENSP00000345156:A183T	A	+	1	0	RPL14	40478626	0.829000	0.29322	0.990000	0.47175	0.902000	0.53008	1.607000	0.36836	0.952000	0.37798	0.637000	0.83480	GCC		PASS	0.547	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	NM_003973		6	8	6	8	---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47307259	47307259	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:47307259G>A	ENST00000265529.3	-	9	1557	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	KIF9_ENST00000444589.2_Missense_Mutation_p.R293W|KIF9_ENST00000452770.2_Missense_Mutation_p.R293W|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.R200W|KIF9_ENST00000335044.2_Missense_Mutation_p.R293W			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	293	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.R293W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTGCACTGCCGAAAGGGGATG	0.577																																					Colon(44;962 1147 15977 24541)	uc010hjp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(877-879)CGG>TGG		kinesin family member 9 isoform 2							195.0	154.0	168.0					3																	47307259		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47307259G>A	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.877C>T	3.37:g.47307259G>A	ENSP00000265529:p.Arg293Trp					KIF9_uc003cqx.2_Missense_Mutation_p.R293W|KIF9_uc003cqy.2_Missense_Mutation_p.R293W|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	p.R293W	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	9	1481	-		Acute lymphoblastic leukemia(5;0.164)	293					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.877C>T	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616222	0.87359	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	D	0.96244	0.8775	H	0.99444	4.57	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98107	1.0418	10	0.87932	D	0	.	18.0156	0.89239	0.0:0.0:1.0:0.0	.	293;293	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	W	293;293;293;293;200	ENSP00000333942:R293W;ENSP00000265529:R293W;ENSP00000414987:R293W;ENSP00000391100:R293W;ENSP00000292334:R200W	ENSP00000265529:R293W	R	-	1	2	KIF9	47282263	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.367000	0.44213	2.615000	0.88500	0.650000	0.86243	CGG		PASS	0.577	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			4	40	4	40	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49662655	49662655	+	Missense_Mutation	SNP	G	G	T	rs372598293		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:49662655G>T	ENST00000296452.4	+	2	586	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	158					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.V158F(1)|p.V158I(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCCTACTCCGTCCCTCAGAT	0.632																																						uc003cxe.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(472-474)GTC>TTC		bassoon protein							154.0	129.0	137.0					3																	49662655		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49662655G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.472G>T	3.37:g.49662655G>T	ENSP00000296452:p.Val158Phe						p.V158F	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	2	586	+			158					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.472G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130643	0.56828	.	.	ENSG00000164061	ENST00000296452	T	0.19938	2.11	5.34	5.34	0.76211	.	0.151251	0.41823	D	0.000820	T	0.34716	0.0907	L	0.39898	1.24	0.49130	D	0.999758	D	0.62365	0.991	P	0.60286	0.872	T	0.02588	-1.1137	10	0.56958	D	0.05	.	16.1232	0.81375	0.0:0.1334:0.8666:0.0	.	158	Q9UPA5	BSN_HUMAN	F	158	ENSP00000296452:V158F	ENSP00000296452:V158F	V	+	1	0	BSN	49637659	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	4.794000	0.62482	2.514000	0.84764	0.462000	0.41574	GTC		PASS	0.632	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	10	12	10	---	---	---	---
PARP3	10039	broad.mit.edu	37	3	51980220	51980220	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:51980220G>T	ENST00000417220.2	+	10	1625	c.1137G>T	c.(1135-1137)cgG>cgT	p.R379R	PARP3_ENST00000398755.3_Silent_p.R386R|PARP3_ENST00000431474.1_Silent_p.R379R			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	379	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R386R(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGGTAATCGGAAGCTGCTGT	0.592																																						uc003dby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1135-1137)CGG>CGT		poly (ADP-ribose) polymerase family, member 3							85.0	87.0	86.0					3																	51980220		2089	4205	6294	SO:0001819	synonymous_variant	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51980220G>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1137G>T	3.37:g.51980220G>T						PARP3_uc003dbz.2_Silent_p.R386R	p.R379R	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1508	+			379			PARP catalytic.		Q8NER9|Q96CG2|Q9UG81	Silent	SNP	ENST00000417220.2	37	c.1137G>T	CCDS43097.1																																																																																				PASS	0.592	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		13	21	13	21	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55984525	55984525	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:55984525C>G	ENST00000288221.6	-	13	2586	c.2331G>C	c.(2329-2331)aaG>aaC	p.K777N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	777						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.K777N(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAGCATTTTTCTTCTTTTCCA	0.438																																						uc003dhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2329-2331)AAG>AAC		cytomatrix protein p110							174.0	165.0	168.0					3																	55984525		1943	4148	6091	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55984525C>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2331G>C	3.37:g.55984525C>G	ENSP00000288221:p.Lys777Asn					ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.K256N	p.K777N	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	13	2587	-			777			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2331G>C	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.52|13.52	2.261291|2.261291	0.39995|0.39995	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.51071|.	0.72|.	5.96|5.96	4.17|4.17	0.49024|0.49024	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58722|0.58722	0.2142|0.2142	L|L	0.48362|0.48362	1.52|1.52	0.40328|0.40328	D|D	0.978899|0.978899	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.55617|0.55617	-0.8113|-0.8113	10|5	0.56958|.	D|.	0.05|.	-29.7518|-29.7518	11.7928|11.7928	0.52080|0.52080	0.0:0.804:0.0:0.196|0.0:0.804:0.0:0.196	.|.	777|.	O15083|.	ERC2_HUMAN|.	N|T	777|424	ENSP00000288221:K777N|.	ENSP00000288221:K777N|.	K|R	-|-	3|2	2|0	ERC2|ERC2	55959565|55959565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.692000|2.692000	0.47018|0.47018	0.842000|0.842000	0.35045|0.35045	0.650000|0.650000	0.86243|0.86243	AAG|AGA		PASS	0.438	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		4	46	4	46	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62423866	62423866	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:62423866G>T	ENST00000383710.4	-	28	4039	c.3690C>A	c.(3688-3690)gcC>gcA	p.A1230A	CADPS_ENST00000283269.9_Silent_p.A1191A|CADPS_ENST00000357948.3_Silent_p.A1151A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1230	Mediates targeting and association with DCVs. {ECO:0000250}.			A -> P (in Ref. 6; AAA79701). {ECO:0000305}.	catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.A1230A(1)|p.A1191A(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGTAGGCGTCGGCCACGTCCA	0.448																																						uc003dll.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(3688-3690)GCC>GCA		Ca2+-dependent secretion activator isoform 1							78.0	73.0	75.0					3																	62423866		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423866G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3690C>A	3.37:g.62423866G>T						CADPS_uc003dlj.1_Silent_p.A185A|CADPS_uc003dlk.1_Silent_p.A678A|CADPS_uc003dlm.2_Silent_p.A1191A|CADPS_uc003dln.2_Silent_p.A1151A	p.A1230A	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	28	4050	-		Lung SC(41;0.0452)	1230	A -> P (in Ref. 6; AAA79701).		Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3690C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	7.622	0.677001	0.14841	.	.	ENSG00000163618	ENST00000473635	.	.	.	5.65	4.77	0.60923	.	.	.	.	.	T	0.58609	0.2134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55023	-0.8205	4	.	.	.	.	8.6873	0.34245	0.1688:0.0:0.8312:0.0	.	.	.	.	Q	222	.	.	P	-	2	0	CADPS	62398906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.900000	0.28431	2.668000	0.90789	0.644000	0.83932	CCG		PASS	0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		8	15	8	15	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433323	73433323	+	Silent	SNP	C	C	T	rs373980614		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:73433323C>T	ENST00000263666.4	-	10	2508	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	PDZRN3_ENST00000462146.2_Silent_p.T455T|PDZRN3_ENST00000466780.1_Silent_p.T455T|PDZRN3_ENST00000479530.1_Silent_p.T515T|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.T520T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	798					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T798T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGTAGGCTTCCGTGGTCCCCA	0.652																																						uc003dpl.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2392-2394)ACG>ACA		PDZ domain containing ring finger 3		C		0,4406		0,0,2203	46.0	49.0	48.0		2394	-9.3	0.0	3		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDZRN3	NM_015009.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		798/1067	73433323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433323C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2394G>A	3.37:g.73433323C>T						PDZRN3_uc011bgh.1_Silent_p.T455T|PDZRN3_uc010hoe.1_Silent_p.T496T|PDZRN3_uc011bgf.1_Silent_p.T515T|PDZRN3_uc011bgg.1_Silent_p.T518T	p.T798T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2490	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	798					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2394G>A	CCDS33789.1																																																																																				PASS	0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		15	20	15	20	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97888265	97888265	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:97888265G>A	ENST00000356526.2	+	1	722	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C241Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTTTCCACCTGTGGAGCCCAT	0.423																																						uc011bgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(721-723)TGT>TAT		olfactory receptor, family 5, subfamily H,							99.0	101.0	100.0					3																	97888265		2203	4300	6503	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888265G>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.722G>A	3.37:g.97888265G>A	ENSP00000373195:p.Cys241Tyr						p.C241Y	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	722	+			241			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.722G>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	16.18	3.049048	0.55110	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00369	7.74	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.01800	0.0057	H	0.98901	4.365	0.36175	D	0.849056	D	0.89917	1.0	D	0.97110	1.0	T	0.09640	-1.0665	10	0.87932	D	0	.	10.7066	0.45958	0.0:0.0:1.0:0.0	.	241	A6NDH6	O5H15_HUMAN	Y	241	ENSP00000373195:C241Y	ENSP00000373195:C241Y	C	+	2	0	OR5H15	99370955	1.000000	0.71417	0.998000	0.56505	0.036000	0.12997	8.331000	0.90022	1.386000	0.46466	0.184000	0.17185	TGT		PASS	0.423	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			16	48	16	48	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99552094	99552094	+	Silent	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:99552094A>T	ENST00000354552.3	-	6	3863	c.3393T>A	c.(3391-3393)ctT>ctA	p.L1131L	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Silent_p.L891L|FILIP1L_ENST00000487087.1_Silent_p.L707L|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1131						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L1131L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGGCAGAAGAAGTGGTTCCA	0.343																																						uc003dtm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3391-3393)CTT>CTA		filamin A interacting protein 1-like isoform 1							119.0	113.0	115.0					3																	99552094		1841	4090	5931	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99552094A>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3393T>A	3.37:g.99552094A>T						C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc010hpf.2_Silent_p.L707L|FILIP1L_uc010hpg.2_Silent_p.L891L	p.L1131L	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			6	3856	-			1131					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.3393T>A	CCDS43117.1																																																																																				PASS	0.343	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		6	28	6	28	---	---	---	---
B4GALT4	8702	broad.mit.edu	37	3	118948703	118948703	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:118948703G>C	ENST00000483209.1	-	3	885	c.244C>G	c.(244-246)Cct>Gct	p.P82A	B4GALT4_ENST00000471675.1_Missense_Mutation_p.P35A|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000393765.2_Missense_Mutation_p.P82A|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.P82A|B4GALT4_ENST00000467604.1_Missense_Mutation_p.P82A			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	82					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.P82A(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CTGAGGTAAGGAGACACAGAA	0.368																																						uc003ecg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)CCT>GCT		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						132.0	121.0	125.0					3																	118948703		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118948703G>C	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.244C>G	3.37:g.118948703G>C	ENSP00000420161:p.Pro82Ala					B4GALT4_uc003ece.1_Missense_Mutation_p.P82A|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.P82A|B4GALT4_uc003eci.2_Missense_Mutation_p.P82A|B4GALT4_uc011biy.1_Intron	p.P82A	NM_212543	NP_997708	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	885	-			82			Lumenal (Potential).		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.244C>G	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795316	0.50208	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000471675;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150	T;T;T;T;T;T	0.61510	1.8;1.8;1.8;1.8;1.8;0.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.78227	0.4250	M	0.85041	2.73	0.52501	D	0.999951	D	0.76494	0.999	D	0.77557	0.99	T	0.81106	-0.1083	10	0.62326	D	0.03	-8.3613	15.8745	0.79151	0.0:0.0:1.0:0.0	.	82	O60513	B4GT4_HUMAN	A	82;82;35;82;82;82;82	ENSP00000420161:P82A;ENSP00000417226:P82A;ENSP00000352144:P82A;ENSP00000377360:P82A;ENSP00000417188:P82A;ENSP00000417958:P82A	ENSP00000352144:P82A	P	-	1	0	B4GALT4	120431393	1.000000	0.71417	0.954000	0.39281	0.202000	0.24057	5.711000	0.68400	2.671000	0.90904	0.462000	0.41574	CCT		PASS	0.368	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		7	30	7	30	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124437893	124437893	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:124437893T>A	ENST00000291478.5	+	27	3609	c.3446T>A	c.(3445-3447)tTt>tAt	p.F1149Y	KALRN_ENST00000360013.3_Missense_Mutation_p.F2846Y|KALRN_ENST00000428018.2_Missense_Mutation_p.F1117Y	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2845					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1149Y(1)|p.F2846Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AACCCTGAGTTTGCTGCCCCA	0.567																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8536-8538)TTT>TAT		kalirin, RhoGEF kinase isoform 1							79.0	75.0	77.0					3																	124437893		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124437893T>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3446T>A	3.37:g.124437893T>A	ENSP00000291478:p.Phe1149Tyr					KALRN_uc003ehk.2_Missense_Mutation_p.F1149Y	p.F2846Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			60	8664	+			2845			Protein kinase.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8537T>A	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.325127|4.325127	0.81580|0.81580	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.15139|.	2.45;2.45;2.45|.	5.41|5.41	5.41|5.41	0.78517|0.78517	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|T	0.19127|0.19127	0.0459|0.0459	N|N	0.00521|0.00521	-1.4|-1.4	0.38619|0.38619	D|D	0.951097|0.951097	D;D|.	0.62365|.	0.991;0.991|.	D;D|.	0.74023|.	0.982;0.982|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.51188|.	T|.	0.08|.	.|.	15.6128|15.6128	0.76740|0.76740	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1149;2845|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	Y|M	2846;1149;1117|2815	ENSP00000353109:F2846Y;ENSP00000291478:F1149Y;ENSP00000402419:F1117Y|.	ENSP00000291478:F1149Y|.	F|L	+|+	2|1	0|2	KALRN|KALRN	125920583|125920583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.868000|7.868000	0.87116|0.87116	2.272000|2.272000	0.75746|0.75746	0.460000|0.460000	0.39030|0.39030	TTT|TTG		PASS	0.567	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		6	34	6	34	---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128712011	128712011	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:128712011G>C	ENST00000265068.5	-	2	304	c.137C>G	c.(136-138)tCt>tGt	p.S46C	KIAA1257_ENST00000511438.1_Missense_Mutation_p.S46C|KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000515659.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	46								p.S46C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTCAGAGTCAGACTCCTGGGC	0.597																																						uc003elj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)TCT>TGT		hypothetical protein LOC57501							72.0	83.0	79.0					3																	128712011		2163	4267	6430	SO:0001583	missense	57501							g.chr3:128712011G>C	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.137C>G	3.37:g.128712011G>C	ENSP00000265068:p.Ser46Cys					KIAA1257_uc003elg.1_Missense_Mutation_p.S46C|KIAA1257_uc003eli.3_5'Flank	p.S46C	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			2	333	-			46					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.137C>G	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999842	0.54147	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	4.37	-0.31	0.12765	.	.	.	.	.	T	0.35770	0.0943	N	0.19112	0.55	0.09310	N	0.999997	D;D	0.71674	0.998;0.998	P;P	0.61940	0.896;0.896	T	0.22034	-1.0228	8	0.56958	D	0.05	-0.8528	6.9303	0.24437	0.1205:0.5535:0.326:0.0	.	46;46	Q9ULG3;D6RH05	K1257_HUMAN;.	C	46	.	ENSP00000265068:S46C	S	-	2	0	KIAA1257	130194701	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	0.332000	0.19751	0.128000	0.18479	0.484000	0.47621	TCT		PASS	0.597	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		8	38	8	38	---	---	---	---
KY	339855	broad.mit.edu	37	3	134322631	134322631	+	Missense_Mutation	SNP	G	G	T	rs34644128		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:134322631G>T	ENST00000423778.2	-	11	1837	c.1776C>A	c.(1774-1776)aaC>aaA	p.N592K	KY_ENST00000508956.1_Missense_Mutation_p.N571K|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.N592K(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGACATTCCGGTTGGCAGGAA	0.562																																						uc010hty.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1774-1776)AAC>AAA		kyphoscoliosis peptidase							60.0	58.0	58.0					3																	134322631		1983	4169	6152	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322631G>T	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1776C>A	3.37:g.134322631G>T	ENSP00000397598:p.Asn592Lys					KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.N571K	p.N592K	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			11	1838	-			Error:Variant_position_missing_in_Q8NBH2_after_alignment					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.1776C>A	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353992	0.61293	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	T;T	0.22743	1.94;1.94	5.84	4.96	0.65561	.	.	.	.	.	T	0.48259	0.1490	.	.	.	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.87578	0.938;0.998	T	0.53578	-0.8419	8	0.72032	D	0.01	.	14.7867	0.69808	0.0691:0.0:0.9309:0.0	.	571;592	Q8NBH2-3;Q8NBH2-4	.;.	K	571;592	ENSP00000421297:N571K;ENSP00000397598:N592K	ENSP00000397598:N592K	N	-	3	2	KY	135805321	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.509000	0.35780	1.478000	0.48253	0.561000	0.74099	AAC		PASS	0.562	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		4	20	4	20	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143412110	143412110	+	Silent	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:143412110A>G	ENST00000316549.6	-	5	781	c.573T>C	c.(571-573)gcT>gcC	p.A191A		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	191					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.A191A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCAGCTGGCCAGCATGTATCA	0.358																																						uc003evn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(571-573)GCT>GCC		solute carrier family 9 (sodium/hydrogen							100.0	98.0	99.0					3																	143412110		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143412110A>G	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.573T>C	3.37:g.143412110A>G						SLC9A9_uc011bnk.1_Silent_p.A65A	p.A191A	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			5	755	-			191					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.573T>C	CCDS33872.1																																																																																				PASS	0.358	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		15	25	15	25	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155200017	155200017	+	Silent	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:155200017A>G	ENST00000340059.7	-	23	3821	c.3822T>C	c.(3820-3822)gtT>gtC	p.V1274V	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.V1236V|PLCH1_ENST00000334686.6_Silent_p.V1236V|PLCH1_ENST00000460012.1_Silent_p.V1236V|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1274					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.V1236V(1)|p.V1274V(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TAGTTTCATAAACTGTGTTCG	0.478																																						uc011bok.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(3820-3822)GTT>GTC		phospholipase C eta 1 isoform a							179.0	179.0	179.0					3																	155200017		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200017A>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3822T>C	3.37:g.155200017A>G						PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.V1236V	p.V1274V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4099	-			1274					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.3822T>C	CCDS46939.1																																																																																				PASS	0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		19	99	19	99	---	---	---	---
SI	6476	broad.mit.edu	37	3	164700802	164700802	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:164700802A>T	ENST00000264382.3	-	46	5297	c.5235T>A	c.(5233-5235)ttT>ttA	p.F1745L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1745	Sucrase.		F -> C (in CSID; dbSNP:rs79717168). {ECO:0000269|PubMed:16329100}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.F1745L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGTTTAAATTAAATTGTACAG	0.328										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5233-5235)TTT>TTA		sucrase-isomaltase	Acarbose(DB00284)						37.0	44.0	42.0					3																	164700802		2195	4299	6494	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164700802A>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5235T>A	3.37:g.164700802A>T	ENSP00000264382:p.Phe1745Leu	HNSCC(35;0.089)					p.F1745L	NM_001041	NP_001032	P14410	SUIS_HUMAN			46	5297	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1745		F -> C (in CSID).	Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5235T>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279185	0.40294	.	.	ENSG00000090402	ENST00000264382	D	0.90197	-2.63	4.92	2.58	0.30949	.	0.120735	0.64402	D	0.000018	D	0.93766	0.8007	M	0.83223	2.63	0.39978	D	0.974883	D	0.76494	0.999	D	0.70487	0.969	D	0.91904	0.5534	10	0.66056	D	0.02	.	5.7403	0.18089	0.7816:0.0:0.2184:0.0	.	1745	P14410	SUIS_HUMAN	L	1745	ENSP00000264382:F1745L	ENSP00000264382:F1745L	F	-	3	2	SI	166183496	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	1.817000	0.39002	0.387000	0.25024	0.482000	0.46254	TTT		PASS	0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	22	3	22	---	---	---	---
SI	6476	broad.mit.edu	37	3	164767661	164767661	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:164767661G>T	ENST00000264382.3	-	14	1577	c.1515C>A	c.(1513-1515)gaC>gaA	p.D505E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	505	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D505E(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTCATTCATGTCCTGAATGG	0.284										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1513-1515)GAC>GAA		sucrase-isomaltase	Acarbose(DB00284)						77.0	84.0	81.0					3																	164767661		2202	4281	6483	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164767661G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1515C>A	3.37:g.164767661G>T	ENSP00000264382:p.Asp505Glu	HNSCC(35;0.089)					p.D505E	NM_001041	NP_001032	P14410	SUIS_HUMAN			14	1577	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	505			Lumenal.|Isomaltase.	Nucleophile.	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1515C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626415	0.46840	.	.	ENSG00000090402	ENST00000264382	D	0.99607	-6.27	5.58	1.13	0.20643	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.88640	2.97	0.58432	D	0.999997	B	0.28512	0.214	B	0.34452	0.183	D	0.98225	1.0480	10	0.45353	T	0.12	.	6.9355	0.24464	0.6327:0.0:0.3673:0.0	.	505	P14410	SUIS_HUMAN	E	505	ENSP00000264382:D505E	ENSP00000264382:D505E	D	-	3	2	SI	166250355	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.103000	0.31062	0.267000	0.21916	0.585000	0.79938	GAC		PASS	0.284	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	29	10	29	---	---	---	---
SI	6476	broad.mit.edu	37	3	164780170	164780170	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:164780170G>T	ENST00000264382.3	-	9	1071	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	337	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q337K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTTGATACTGTTGAACTACT	0.323										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1009-1011)CAG>AAG		sucrase-isomaltase	Acarbose(DB00284)						59.0	58.0	59.0					3																	164780170		2203	4296	6499	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164780170G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1009C>A	3.37:g.164780170G>T	ENSP00000264382:p.Gln337Lys	HNSCC(35;0.089)					p.Q337K	NM_001041	NP_001032	P14410	SUIS_HUMAN			9	1071	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	337			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1009C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786736	0.70337	.	.	ENSG00000090402	ENST00000264382	D	0.93189	-3.18	5.34	2.23	0.28157	Glycoside hydrolase, superfamily (1);	0.152410	0.56097	N	0.000025	D	0.93025	0.7780	M	0.74647	2.275	0.35018	D	0.757538	P	0.48089	0.905	P	0.47603	0.551	D	0.93869	0.7160	10	0.72032	D	0.01	.	10.255	0.43392	0.0:0.5238:0.3562:0.1199	.	337	P14410	SUIS_HUMAN	K	337	ENSP00000264382:Q337K	ENSP00000264382:Q337K	Q	-	1	0	SI	166262864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.779000	0.62375	0.552000	0.29026	0.585000	0.79938	CAG		PASS	0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		24	35	24	35	---	---	---	---
SI	6476	broad.mit.edu	37	3	164793779	164793779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:164793779C>A	ENST00000264382.3	-	2	84	c.22G>T	c.(22-24)Gga>Tga	p.G8*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	8					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G8*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATTTCCAATCCACTAAATTTC	0.279										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(22-24)GGA>TGA		sucrase-isomaltase	Acarbose(DB00284)						51.0	52.0	52.0					3																	164793779		2203	4292	6495	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164793779C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.22G>T	3.37:g.164793779C>A	ENSP00000264382:p.Gly8*	HNSCC(35;0.089)					p.G8*	NM_001041	NP_001032	P14410	SUIS_HUMAN			2	84	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	8			Cytoplasmic.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.22G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929989	0.92389	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.68	1.88	0.25563	.	0.670323	0.15467	N	0.260838	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.6474	0.04988	0.1511:0.5419:0.146:0.1611	.	.	.	.	X	8	.	ENSP00000264382:G8X	G	-	1	0	SI	166276473	0.000000	0.05858	0.036000	0.18154	0.977000	0.68977	0.135000	0.15952	0.076000	0.16826	0.655000	0.94253	GGA		PASS	0.279	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		14	36	14	36	---	---	---	---
ZMAT3	64393	broad.mit.edu	37	3	178785487	178785487	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:178785487C>A	ENST00000311417.2	-	2	795	c.54G>T	c.(52-54)tcG>tcT	p.S18S	ZMAT3_ENST00000432729.1_Silent_p.S18S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.S18S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACATAGGAGGCGAGGGTGAGG	0.572																																						uc003fjg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(52-54)TCG>TCT		p53 target zinc finger protein isoform 1							140.0	143.0	142.0					3																	178785487		2203	4300	6503	SO:0001819	synonymous_variant	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785487C>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.54G>T	3.37:g.178785487C>A						ZMAT3_uc010hxa.2_Silent_p.S18S|ZMAT3_uc003fji.2_Silent_p.S18S	p.S18S	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	313	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		18						Silent	SNP	ENST00000311417.2	37	c.54G>T	CCDS3224.1																																																																																				PASS	0.572	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		15	95	15	95	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184689483	184689484	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:184689483_184689484GG>TT	ENST00000437079.3	+	40	3534_3535	c.3363_3364GG>TT	c.(3361-3366)gtGGag>gtTTag	p.E1122*	VPS8_ENST00000446204.2_Nonsense_Mutation_p.E1030*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.E1122*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.E1120*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1122							zinc ion binding (GO:0008270)	p.E1122*(2)|p.V1121V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATACTATGGTGGAGACCATTGC	0.381																																						uc003fpb.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(3355-3357)GTG>GTT|c.(3358-3360)GAG>TAG		vacuolar protein sorting 8 homolog isoform b																																				SO:0001587	stop_gained	23355						zinc ion binding	g.chr3:184689483G>T|g.chr3:184689484G>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	Exception_encountered	3.37:g.184689483_184689484delinsTT	ENSP00000397879:p.Glu1122*					VPS8_uc010hyd.1_Silent_p.V1029V|VPS8_uc010hye.1_Silent_p.V548V|VPS8_uc010hyd.1_Nonsense_Mutation_p.E1030*|VPS8_uc010hye.1_Nonsense_Mutation_p.E549*	p.V1119V|p.E1120*	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		39	3528|3529	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1121|1122					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent|Nonsense_Mutation	SNP	ENST00000437079.3	37	c.3357G>T|c.3358G>T	CCDS46971.1																																																																																				PASS	0.381	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		4	11	4	11	---	---	---	---
BDH1	622	broad.mit.edu	37	3	197238900	197238900	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr3:197238900C>T	ENST00000392378.2	-	7	1208	c.898G>A	c.(898-900)Gat>Aat	p.D300N	BDH1_ENST00000441275.1_Missense_Mutation_p.D213N|BDH1_ENST00000392379.1_Missense_Mutation_p.D300N|BDH1_ENST00000358186.2_Missense_Mutation_p.D300N	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	300					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)	p.D300N(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GTGACAGCATCGATGACAGGG	0.577																																						uc003fxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(898-900)GAT>AAT		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						202.0	168.0	179.0					3																	197238900		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238900C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.898G>A	3.37:g.197238900C>T	ENSP00000376183:p.Asp300Asn					BDH1_uc003fxs.2_Missense_Mutation_p.D300N|BDH1_uc003fxt.2_Missense_Mutation_p.D213N|BDH1_uc003fxu.2_Missense_Mutation_p.D300N	p.D300N	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1300	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	300					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.898G>A	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	8.026	0.760645	0.15914	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.85	0.287	0.15714	NAD(P)-binding domain (1);	0.540575	0.21398	N	0.075190	D	0.83422	0.5251	N	0.20445	0.575	0.42079	D	0.991243	B	0.13594	0.008	B	0.10450	0.005	T	0.69397	-0.5156	10	0.08837	T	0.75	.	8.8302	0.35080	0.0:0.5779:0.0:0.4221	.	300	Q02338	BDH_HUMAN	N	300;300;300;213	ENSP00000376183:D300N;ENSP00000350914:D300N;ENSP00000376184:D300N;ENSP00000411014:D213N	ENSP00000350914:D300N	D	-	1	0	BDH1	198723297	0.921000	0.31238	0.079000	0.20413	0.927000	0.56198	0.506000	0.22658	0.155000	0.19261	0.655000	0.94253	GAT		PASS	0.577	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		10	82	10	82	---	---	---	---
ZNF595	152687	broad.mit.edu	37	4	86363	86363	+	3'UTR	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:86363G>C	ENST00000339368.6	+	0	1172							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CCTTTAGACAGTCCAGGAGCC	0.378																																						uc003fzv.1																			0					0						c.(967-969)CAG>CAC		zinc finger protein 595							42.0	47.0	45.0					4																	86363		2091	4264	6355	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:86363G>C	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1169G>C	4.37:g.86363G>C						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.Q91H|ZNF595_uc011but.1_Missense_Mutation_p.Q91H	p.Q323H	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1125	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	323						Missense_Mutation	SNP	ENST00000339368.6	37	c.969G>C																																																																																					PASS	0.378	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		27	25	27	25	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	493149	493149	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:493149G>A	ENST00000453061.2	+	1	131	c.25G>A	c.(25-27)Gct>Act	p.A9T	PIGG_ENST00000536264.1_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000503111.1_5'UTR|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.A9T|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.A9T|PIGG_ENST00000504346.1_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	9					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.A9T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGGGACTTTCGCTACCTGTTG	0.662																																						uc003gak.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(25-27)GCT>ACT		phosphatidylinositol glycan anchor biosynthesis,							53.0	48.0	49.0					4																	493149		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:493149G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.25G>A	4.37:g.493149G>A	ENSP00000415203:p.Ala9Thr					PIGG_uc003gaj.3_Missense_Mutation_p.A9T|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A9T|PIGG_uc003gal.3_Intron|ZNF721_uc003gag.2_5'UTR|ZNF721_uc010ibe.2_5'UTR|ZNF721_uc003gah.1_RNA|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_5'UTR|PIGG_uc003gan.2_5'UTR	p.A9T	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			1	161	+			9			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.25G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460462	0.84317	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000383028	T;T;T	0.09723	3.26;3.26;2.95	4.4	4.4	0.53042	.	0.262088	0.36519	N	0.002553	T	0.28830	0.0715	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.941;0.973	T	0.01004	-1.1484	10	0.36615	T	0.2	.	12.8064	0.57616	0.0:0.0:1.0:0.0	.	9;9;9	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	T	9	ENSP00000311750:A9T;ENSP00000415203:A9T;ENSP00000372494:A9T	ENSP00000311750:A9T	A	+	1	0	PIGG	483149	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.507000	0.66999	2.166000	0.68216	0.557000	0.71058	GCT		PASS	0.662	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		5	11	5	11	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	499606	499606	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:499606G>C	ENST00000453061.2	+	3	566	c.460G>C	c.(460-462)Gct>Cct	p.A154P	PIGG_ENST00000536264.1_Missense_Mutation_p.A32P|PIGG_ENST00000503111.1_Missense_Mutation_p.A65P|PIGG_ENST00000509768.1_Missense_Mutation_p.A65P|PIGG_ENST00000310340.5_Missense_Mutation_p.A154P|PIGG_ENST00000296306.7_Missense_Mutation_p.A65P|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000504346.1_Missense_Mutation_p.A65P	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	154					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.A154P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCAAAAGCAGCTGGAAAAAG	0.433																																						uc003gak.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(460-462)GCT>CCT		phosphatidylinositol glycan anchor biosynthesis,							82.0	81.0	81.0					4																	499606		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:499606G>C		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.460G>C	4.37:g.499606G>C	ENSP00000415203:p.Ala154Pro					PIGG_uc003gaj.3_Missense_Mutation_p.A154P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.A65P|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.A32P|PIGG_uc003gam.2_Missense_Mutation_p.A65P|PIGG_uc003gan.2_Missense_Mutation_p.A65P	p.A154P	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			3	596	+			154			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.460G>C	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877384	0.72294	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000509768	T;T;T;T;T;T;T	0.74209	0.82;0.82;-0.82;-0.82;0.82;0.82;0.82	5.52	5.52	0.82312	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.979;0.993;0.972;0.989;0.983	D	0.83759	0.0213	10	0.30078	T	0.28	-18.912	16.9248	0.86173	0.0:0.0:1.0:0.0	.	32;65;65;154;154	B4DKC7;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;PIGG_HUMAN;.	P	65;32;154;154;65;65;65	ENSP00000296306:A65P;ENSP00000439240:A32P;ENSP00000311750:A154P;ENSP00000415203:A154P;ENSP00000424800:A65P;ENSP00000426002:A65P;ENSP00000421550:A65P	ENSP00000296306:A65P	A	+	1	0	PIGG	489606	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.931000	0.70113	2.593000	0.87608	0.655000	0.94253	GCT		PASS	0.433	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		14	50	14	50	---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24556484	24556484	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:24556484C>A	ENST00000336812.4	-	5	1100	c.944G>T	c.(943-945)cGt>cTt	p.R315L		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	315					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R315L(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGGATGTGTACGCCCAGGAAT	0.388																																						uc003gqx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(943-945)CGT>CTT		DEAH (Asp-Glu-Ala-His) box polypeptide 15							136.0	128.0	131.0					4																	24556484		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24556484C>A	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.944G>T	4.37:g.24556484C>A	ENSP00000336741:p.Arg315Leu						p.R315L	NM_001358	NP_001349	O43143	DHX15_HUMAN			5	1112	-		Breast(46;0.0503)	315					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.944G>T	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200147	0.94997	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.21191	2.02	6.05	5.2	0.72013	DEAD-like helicase (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	H	0.99834	4.825	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.82348	-0.0502	10	0.87932	D	0	-29.072	15.7548	0.78015	0.0:0.9338:0.0:0.0662	.	315	O43143	DHX15_HUMAN	L	315;304	ENSP00000336741:R315L	ENSP00000336741:R315L	R	-	2	0	DHX15	24165582	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.775000	0.68915	2.878000	0.98634	0.650000	0.86243	CGT		PASS	0.388	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		7	62	7	62	---	---	---	---
ANAPC4	29945	broad.mit.edu	37	4	25391798	25391798	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:25391798G>T	ENST00000315368.3	+	8	698	c.556G>T	c.(556-558)Gag>Tag	p.E186*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E186*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.E186*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGGATTTATTGAGCTTTATGC	0.338																																						uc003gro.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(556-558)GAG>TAG		anaphase-promoting complex subunit 4							198.0	187.0	191.0					4																	25391798		2203	4300	6503	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25391798G>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.556G>T	4.37:g.25391798G>T	ENSP00000318775:p.Glu186*					ANAPC4_uc003grp.2_Nonsense_Mutation_p.E71*|ANAPC4_uc010iet.1_5'UTR|ANAPC4_uc010ieu.1_5'UTR	p.E186*	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			8	685	+		Breast(46;0.0503)	186					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.556G>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076050	0.94000	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-26.4239	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000318775:E186X	E	+	1	0	ANAPC4	25000896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.092000	0.94157	2.810000	0.96702	0.585000	0.79938	GAG		PASS	0.338	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		9	49	9	49	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37841787	37841787	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:37841787G>A	ENST00000381967.4	+	6	725	c.625G>A	c.(625-627)Gat>Aat	p.D209N	PGM2_ENST00000544359.1_Missense_Mutation_p.D70N|PGM2_ENST00000537241.1_Missense_Mutation_p.D49N	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	209					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.D209N(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AGCTTGGGACGATTCTTTAAT	0.403																																						uc011byb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(625-627)GAT>AAT		phosphoglucomutase 2							113.0	119.0	117.0					4																	37841787		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37841787G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.625G>A	4.37:g.37841787G>A	ENSP00000371393:p.Asp209Asn					PGM2_uc011bya.1_Missense_Mutation_p.D70N|PGM2_uc011byc.1_Missense_Mutation_p.D49N	p.D209N	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			6	698	+			209					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.625G>A	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	8.658	0.899923	0.17686	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T	0.63913	-0.07;1.91	5.95	5.11	0.69529	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);	0.297734	0.42294	D	0.000729	T	0.57301	0.2044	M	0.67953	2.075	0.38059	D	0.93602	B;B	0.31730	0.104;0.337	B;B	0.25614	0.025;0.062	T	0.58662	-0.7597	10	0.17832	T	0.49	-6.8293	14.9064	0.70724	0.0682:0.0:0.9318:0.0	.	209;70	Q96G03;B4E0G8	PGM2_HUMAN;.	N	209;70;49	ENSP00000371393:D209N;ENSP00000437342:D49N	ENSP00000371393:D209N	D	+	1	0	PGM2	37518182	0.990000	0.36364	0.021000	0.16686	0.025000	0.11179	3.697000	0.54764	1.522000	0.49001	0.650000	0.86243	GAT		PASS	0.403	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		11	58	11	58	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42145769	42145769	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:42145769C>A	ENST00000502486.1	-	3	1309	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S	BEND4_ENST00000504360.1_Missense_Mutation_p.A240S	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	244								p.A240S(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CTCAAAAAGGCAGAAGTTTGT	0.468																																						uc003gwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)GCC>TCC		BEN domain containing 4 isoform a							122.0	125.0	124.0					4																	42145769		1914	4126	6040	SO:0001583	missense	389206							g.chr4:42145769C>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.730G>T	4.37:g.42145769C>A	ENSP00000421169:p.Ala244Ser					BEND4_uc003gwm.2_Missense_Mutation_p.A244S|BEND4_uc011byy.1_Missense_Mutation_p.A244S	p.A244S	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1310	-			244					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.730G>T	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492998	0.44352	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	4.68	0.58851	.	0.054610	0.64402	N	0.000001	T	0.42337	0.1198	N	0.24115	0.695	0.58432	D	0.999995	P;P;P	0.40970	0.734;0.615;0.734	B;B;B	0.39503	0.301;0.158;0.301	T	0.46373	-0.9196	9	0.66056	D	0.02	-16.2961	15.722	0.77718	0.1378:0.8622:0.0:0.0	.	166;244;244	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	S	115;244;240	.	ENSP00000412495:A115S	A	-	1	0	BEND4	41840526	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	5.537000	0.67186	1.324000	0.45282	-0.182000	0.12963	GCC		PASS	0.468	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		3	20	3	20	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46043106	46043106	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:46043106G>C	ENST00000295452.4	-	9	1464	c.1297C>G	c.(1297-1299)Cac>Gac	p.H433D		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	433					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H433D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGCGTATGTGTATCCTTCCT	0.408																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1297-1299)CAC>GAC		gamma-aminobutyric acid A receptor, gamma 1							132.0	133.0	133.0					4																	46043106		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043106G>C	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1297C>G	4.37:g.46043106G>C	ENSP00000295452:p.His433Asp						p.H433D	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1449	-			433			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1297C>G	CCDS3470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.475094|4.475094	0.84640|0.84640	.|.	.|.	ENSG00000163285|ENSG00000163285	ENST00000295452|ENST00000540030	D|.	0.83914|.	-1.78|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70011|0.70011	0.3175|0.3175	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	P|.	0.57009|.	0.811|.	T|T	0.64433|0.64433	-0.6409|-0.6409	10|6	0.37606|0.25751	T|T	0.19|0.34	.|.	18.356|18.356	0.90357|0.90357	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	433|.	Q8N1C3|.	GBRG1_HUMAN|.	D|R	433|413	ENSP00000295452:H433D|.	ENSP00000295452:H433D|ENSP00000445441:T413R	H|T	-|-	1|2	0|0	GABRG1|GABRG1	45737863|45737863	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.973000|0.973000	0.67179|0.67179	9.767000|9.767000	0.98960|0.98960	2.580000|2.580000	0.87095|0.87095	0.585000|0.585000	0.79938|0.79938	CAC|ACA		PASS	0.408	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		15	53	15	53	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46967068	46967068	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:46967068G>T	ENST00000264318.3	-	8	2035	c.1053C>A	c.(1051-1053)gcC>gcA	p.A351A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	351					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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.A351A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|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)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTCCTTTTGGCTTTTTCCA	0.468																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1051-1053)GCC>GCA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						117.0	117.0	117.0					4																	46967068		2203	4299	6502	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967068G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1053C>A	4.37:g.46967068G>T							p.A351A	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1192	-			351			Cytoplasmic (Probable).		Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.1053C>A	CCDS3473.1																																																																																				PASS	0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			18	38	18	38	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46973213	46973213	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:46973213C>A	ENST00000264318.3	-	7	1743	c.761G>T	c.(760-762)cGg>cTg	p.R254L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	254					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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.R254L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|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)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACCCATCTTCCGTCTGAGGTG	0.383																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(760-762)CGG>CTG		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						90.0	87.0	88.0					4																	46973213		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46973213C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.761G>T	4.37:g.46973213C>A	ENSP00000264318:p.Arg254Leu						p.R254L	NM_000809	NP_000800	P48169	GBRA4_HUMAN			7	900	-			254			Extracellular (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.761G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475368	0.96291	.	.	ENSG00000109158	ENST00000264318	D	0.96802	-4.13	5.42	5.42	0.78866	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99236	1.0883	10	0.87932	D	0	.	18.3928	0.90489	0.0:1.0:0.0:0.0	.	254	P48169	GBRA4_HUMAN	L	254	ENSP00000264318:R254L	ENSP00000264318:R254L	R	-	2	0	GABRA4	46667970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.821000	0.97095	0.650000	0.86243	CGG		PASS	0.383	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			19	27	19	27	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47655610	47655610	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:47655610G>A	ENST00000273857.4	-	13	1802	c.1803C>T	c.(1801-1803)ggC>ggT	p.G601G	CORIN_ENST00000504584.1_Silent_p.G564G|CORIN_ENST00000508498.1_Silent_p.G462G|CORIN_ENST00000502252.1_Silent_p.G534G|CORIN_ENST00000505909.1_Silent_p.G564G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	601	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.G601G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGTCGGCCTGGCCATCACATC	0.403																																						uc003gxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1801-1803)GGC>GGT		corin							141.0	126.0	131.0					4																	47655610		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47655610G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1803C>T	4.37:g.47655610G>A						CORIN_uc011bzf.1_Silent_p.G462G|CORIN_uc011bzg.1_Silent_p.G534G|CORIN_uc011bzh.1_Silent_p.G564G	p.G601G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			13	1896	-			601			Extracellular (Potential).|LDL-receptor class A 5.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.1803C>T	CCDS3477.1																																																																																				PASS	0.403	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			10	57	10	57	---	---	---	---
SGCB	6443	broad.mit.edu	37	4	52890241	52890241	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:52890241C>A	ENST00000381431.5	-	6	1061	c.839G>T	c.(838-840)gGt>gTt	p.G280V	SGCB_ENST00000535450.1_Missense_Mutation_p.G210V	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	280	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.G280V(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TACCCAGTCACCACTACCCAA	0.517																																						uc003gzj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)GGT>GTT		sarcoglycan, beta							114.0	98.0	104.0					4																	52890241		2203	4300	6503	SO:0001583	missense	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52890241C>A	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.839G>T	4.37:g.52890241C>A	ENSP00000370839:p.Gly280Val					SGCB_uc011bzp.1_Missense_Mutation_p.G210V	p.G280V	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		6	899	-			280			Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	c.839G>T	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517556	0.13005	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.95001	-3.58;-3.58	5.44	3.7	0.42460	.	0.369364	0.33572	N	0.004771	D	0.87884	0.6290	N	0.22421	0.69	0.29596	N	0.848087	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.81433	-0.0935	10	0.66056	D	0.02	-1.0986	6.3481	0.21361	0.149:0.7008:0.0:0.1502	.	210;280	B7Z635;Q16585	.;SGCB_HUMAN	V	280;210	ENSP00000370839:G280V;ENSP00000441199:G210V	ENSP00000370839:G280V	G	-	2	0	SGCB	52584998	0.163000	0.22920	0.002000	0.10522	0.001000	0.01503	1.239000	0.32719	0.772000	0.33382	-0.293000	0.09583	GGT		PASS	0.517	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			25	44	25	44	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52926996	52926996	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:52926996G>T	ENST00000295213.4	+	3	616	c.242G>T	c.(241-243)tGg>tTg	p.W81L	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.W81L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	81					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.W81L(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTTTTGCCTTGGCTGGAGGCT	0.483																																						uc003gzl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(241-243)TGG>TTG		spermatogenesis associated 18 homolog							170.0	140.0	150.0					4																	52926996		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52926996G>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.242G>T	4.37:g.52926996G>T	ENSP00000295213:p.Trp81Leu					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.W81L|SPATA18_uc003gzk.1_Missense_Mutation_p.W81L	p.W81L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	520	+			81					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.242G>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	6.730	0.503392	0.12822	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.33438	2.1;1.41	4.81	3.93	0.45458	.	0.058566	0.64402	N	0.000001	T	0.27134	0.0665	L	0.49350	1.555	0.43000	D	0.994511	B;B;B	0.15930	0.015;0.015;0.004	B;B;B	0.16722	0.016;0.016;0.006	T	0.06643	-1.0815	10	0.33141	T	0.24	-13.4772	10.235	0.43277	0.0:0.0:0.8021:0.1979	.	81;81;81	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	81	ENSP00000295213:W81L;ENSP00000415309:W81L	ENSP00000295213:W81L	W	+	2	0	SPATA18	52621753	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	3.511000	0.53400	1.318000	0.45170	0.462000	0.41574	TGG		PASS	0.483	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		24	54	24	54	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54257635	54257635	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:54257635G>C	ENST00000337488.6	+	9	869	c.675G>C	c.(673-675)gaG>gaC	p.E225D	FIP1L1_ENST00000507922.1_Missense_Mutation_p.E210D|FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.E210D|FIP1L1_ENST00000507166.1_Missense_Mutation_p.E225D	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	225	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E225D(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAGGTGCAGAGATCCAAGATG	0.358			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003haa.2				Dom	yes		4	4q12	81608	Mis|O|T	FIP1 like 1 (S. cerevisiae)			L	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.(673-675)GAG>GAC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						97.0	94.0	95.0					4																	54257635		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis			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.chr4:54257635G>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.675G>C	4.37:g.54257635G>C	ENSP00000336752:p.Glu225Asp	TSP Lung(21;0.16)				FIP1L1_uc003gzx.3_Missense_Mutation_p.E210D|FIP1L1_uc011bzt.1_Missense_Mutation_p.E225D|FIP1L1_uc003gzy.2_Missense_Mutation_p.E225D|FIP1L1_uc011bzu.1_Missense_Mutation_p.E210D|FIP1L1_uc003gzz.2_Intron|FIP1L1_uc003hab.2_Intron|FIP1L1_uc003hac.2_Intron	p.E225D	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)		9	861	+	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)		Error:Variant_position_missing_in_P16234_after_alignment					B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.675G>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187858	0.57909	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000507166	T	0.78003	-1.14	5.82	5.82	0.92795	.	0.000000	0.52532	D	0.000073	T	0.79782	0.4505	N	0.22421	0.69	0.31414	N	0.675115	D;D;P;D	0.56035	0.974;0.974;0.956;0.974	D;D;D;D	0.70487	0.953;0.953;0.931;0.969	T	0.73206	-0.4056	10	0.12430	T	0.62	-16.4582	18.2948	0.90141	0.0:0.0:1.0:0.0	.	210;29;225;210	G3XAD6;B4DTW7;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	D	225;210;210;225	ENSP00000423325:E225D	ENSP00000336752:E225D	E	+	3	2	FIP1L1	53952392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.019000	0.64060	2.765000	0.95021	0.650000	0.86243	GAG		PASS	0.358	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		17	35	17	35	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57182429	57182429	+	Missense_Mutation	SNP	G	G	T	rs370522289		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:57182429G>T	ENST00000504228.1	+	6	2866	c.2761G>T	c.(2761-2763)Gct>Tct	p.A921S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A921S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A914S			Q6ZU35	K1211_HUMAN	KIAA1211	921								p.A921S(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGGGACTCCGCTGAACCTTC	0.657																																						uc003hbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2761-2763)GCT>TCT		hypothetical protein LOC57482							27.0	36.0	33.0					4																	57182429		2057	4205	6262	SO:0001583	missense	57482							g.chr4:57182429G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2761G>T	4.37:g.57182429G>T	ENSP00000423366:p.Ala921Ser					KIAA1211_uc010iha.2_Missense_Mutation_p.A914S|KIAA1211_uc011bzz.1_Missense_Mutation_p.A831S|KIAA1211_uc003hbm.1_Missense_Mutation_p.A807S	p.A921S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3152	+	Glioma(25;0.08)|all_neural(26;0.101)		921					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2761G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.620166	0.28801	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12361	2.69;2.69;2.69	5.1	1.19	0.21007	.	.	.	.	.	T	0.07007	0.0178	N	0.21448	0.665	0.09310	N	1	B;B;B	0.24186	0.099;0.099;0.099	B;B;B	0.21546	0.035;0.02;0.02	T	0.38329	-0.9666	9	0.25751	T	0.34	-7.5979	0.7782	0.01036	0.1901:0.1641:0.3459:0.2999	.	914;914;921	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	921;921;914;831	ENSP00000264229:A921S;ENSP00000423366:A921S;ENSP00000444006:A914S	ENSP00000264229:A921S	A	+	1	0	KIAA1211	56877186	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.031000	0.12287	0.544000	0.28883	0.462000	0.41574	GCT		PASS	0.657	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		9	11	9	11	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96127913	96127913	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:96127913G>T	ENST00000453304.1	-	11	2116	c.1768C>A	c.(1768-1770)Cct>Act	p.P590T		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	590	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.P590T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCACCACAGGGGTCAAAAGT	0.537																																						uc003htp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1768-1770)CCT>ACT		unc5C precursor							50.0	49.0	50.0					4																	96127913		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96127913G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1768C>A	4.37:g.96127913G>T	ENSP00000406022:p.Pro590Thr					UNC5C_uc010ilc.1_Missense_Mutation_p.P609T	p.P590T	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	11	1922	-		Hepatocellular(203;0.114)	590			Cytoplasmic (Potential).|ZU5.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1768C>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471684	0.63737	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.56103	0.48;0.48	5.28	5.28	0.74379	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	M	0.90977	3.165	0.80722	D	1	P;B	0.49559	0.925;0.055	P;B	0.49561	0.615;0.021	T	0.80127	-0.1512	10	0.87932	D	0	.	19.2637	0.93979	0.0:0.0:1.0:0.0	.	590;590	A8K385;O95185	.;UNC5C_HUMAN	T	590;549;609	ENSP00000406022:P590T;ENSP00000426924:P609T	ENSP00000328673:P549T	P	-	1	0	UNC5C	96346936	1.000000	0.71417	0.971000	0.41717	0.843000	0.47879	7.884000	0.87274	2.611000	0.88343	0.563000	0.77884	CCT		PASS	0.537	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		17	18	17	18	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114195682	114195682	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:114195682G>A	ENST00000357077.4	+	15	1613	c.1560G>A	c.(1558-1560)atG>atA	p.M520I	ANK2_ENST00000264366.6_Missense_Mutation_p.M520I|ANK2_ENST00000394537.3_Missense_Mutation_p.M520I|ANK2_ENST00000506722.1_Missense_Mutation_p.M499I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	520					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.M520I(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)		TACAACATATGGCTCATCCAG	0.507																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(1558-1560)ATG>ATA		ankyrin 2 isoform 1							106.0	102.0	103.0					4																	114195682		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.chr4:114195682G>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.1560G>A	4.37:g.114195682G>A	ENSP00000349588:p.Met520Ile					ANK2_uc003ibd.3_Missense_Mutation_p.M499I|ANK2_uc003ibf.3_Missense_Mutation_p.M520I|ANK2_uc003ibc.2_Missense_Mutation_p.M496I|ANK2_uc011cgb.1_Missense_Mutation_p.M535I	p.M520I	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	15	1660	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	520			ANK 15.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1560G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094206	0.94149	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64438	-0.1;-0.08;-0.1;-0.08;-0.1;-0.1;-0.1	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000007	T	0.68760	0.3036	N	0.19112	0.55	0.80722	D	1	D;P;P;P;B	0.54964	0.969;0.608;0.917;0.73;0.119	D;B;P;B;B	0.66716	0.946;0.219;0.771;0.391;0.211	T	0.72843	-0.4170	10	0.72032	D	0.01	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	520;520;520;499;499	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	I	499;499;499;535;520;520;520;499	ENSP00000423799:M499I;ENSP00000421011:M499I;ENSP00000421067:M499I;ENSP00000424722:M535I;ENSP00000378044:M520I;ENSP00000349588:M520I;ENSP00000264366:M520I	ENSP00000264366:M520I	M	+	3	0	ANK2	114415131	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.792000	0.99085	2.631000	0.89168	0.650000	0.86243	ATG		PASS	0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	39	30	39	---	---	---	---
SLC25A31	83447	broad.mit.edu	37	4	128651829	128651829	+	Silent	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:128651829G>C	ENST00000281154.4	+	1	297	c.129G>C	c.(127-129)cgG>cgC	p.R43R		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	43					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R43R(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CCATCGAGCGGGTGAAGCTGC	0.652																																						uc003ifl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)CGG>CGC		solute carrier family 25 (mitochondrial carrier;							44.0	43.0	44.0					4																	128651829		2203	4300	6503	SO:0001819	synonymous_variant	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128651829G>C	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.129G>C	4.37:g.128651829G>C							p.R43R	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			1	275	+			43			Solcar 1.|Helical; Name=1; (Potential).			Silent	SNP	ENST00000281154.4	37	c.129G>C	CCDS3733.1																																																																																				PASS	0.652	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		17	20	17	20	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561554	147561554	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:147561554C>A	ENST00000281321.3	+	2	1072	c.824C>A	c.(823-825)aCc>aAc	p.T275N	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	275	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.T275N(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CTGGGGGTGACCCAGGCAGAT	0.667																																						uc003ikv.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(823-825)ACC>AAC		Brn3b POU domain transcription factor							40.0	42.0	41.0					4																	147561554		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561554C>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.824C>A	4.37:g.147561554C>A	ENSP00000281321:p.Thr275Asn						p.T275N	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1072	+	all_hematologic(180;0.151)		275			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.824C>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184212	0.78677	.	.	ENSG00000151615	ENST00000281321	D	0.88124	-2.34	5.42	5.42	0.78866	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95854	0.8877	10	0.87932	D	0	.	19.2306	0.93839	0.0:1.0:0.0:0.0	.	275	Q12837	PO4F2_HUMAN	N	275	ENSP00000281321:T275N	ENSP00000281321:T275N	T	+	2	0	POU4F2	147781004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.045000	0.71020	2.561000	0.86390	0.462000	0.41574	ACC		PASS	0.667	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	18	7	18	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151771880	151771880	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:151771880T>A	ENST00000357115.3	-	24	4243	c.4000A>T	c.(4000-4002)Aga>Tga	p.R1334*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.R1334*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.R1334*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.R1334*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1334						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1334*(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACAAACCTTCTCCACATCTGT	0.313																																						uc010ipj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(4000-4002)AGA>TGA		LPS-responsive vesicle trafficking, beach and							78.0	79.0	78.0					4																	151771880		2203	4300	6503	SO:0001587	stop_gained	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151771880T>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4000A>T	4.37:g.151771880T>A	ENSP00000349629:p.Arg1334*					LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Nonsense_Mutation_p.R1334*	p.R1334*	NM_006726	NP_006717	P50851	LRBA_HUMAN			24	4474	-	all_hematologic(180;0.151)		1334			WD 1.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	37	c.4000A>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	48	14.292008	0.99788	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3067	0.54906	0.0:0.0:0.1411:0.8589	.	.	.	.	X	1334	.	ENSP00000349629:R1334X	R	-	1	2	LRBA	151991330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.848000	0.69458	2.287000	0.76781	0.482000	0.46254	AGA		PASS	0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			12	20	12	20	---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159076762	159076763	+	Splice_Site	DNP	CC	CC	AA			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:159076762_159076763CC>AA	ENST00000296530.8	-	3	1746_1747	c.1125_1126GG>TT	c.(1123-1128)caGGtt>caTTtt	p.375_376QV>HF	FAM198B_ENST00000585682.1_Splice_Site_p.375_376QV>HF|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Splice_Site_p.383_384QV>HF	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	375						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.?(4)|p.Q383H(1)|p.Q375H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GATAAACTTACCTGTAACAAAA	0.411																																						uc003ipp.3																			6	Unknown(4)|Substitution - Missense(2)		lung(6)		0						c.e3+1|c.(1123-1125)CAG>CAT		hypothetical protein LOC51313 isoform 2																																				SO:0001630	splice_region_variant	51313					Golgi membrane|integral to membrane		g.chr4:159076762C>A|g.chr4:159076763C>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1125_1126delinsAA	4.37:g.159076762_159076763delinsAA						FAM198B_uc003ipq.3_Splice_Site_p.Q383_splice|FAM198B_uc003ipr.3_Splice_Site_p.Q375_splice|FAM198B_uc003ipq.3_Missense_Mutation_p.Q383H|FAM198B_uc003ipr.3_Missense_Mutation_p.Q375H	p.Q375_splice|p.Q375H	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			3	1577	-			|375			|Extracellular (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Splice_Site|Missense_Mutation	SNP	ENST00000296530.8	37	c.1125_splice|c.1125G>T	CCDS3798.1																																																																																				PASS	0.411	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	Missense_Mutation	11|12	19|21	11	19	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183714418	183714418	+	Missense_Mutation	SNP	G	G	T	rs201676320		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr4:183714418G>T	ENST00000511685.1	+	26	6716	c.6593G>T	c.(6592-6594)cGt>cTt	p.R2198L	TENM3_ENST00000406950.2_Missense_Mutation_p.R2198L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2198					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2198L(1)									GGTTTCCTACGTCAAAGGGGC	0.493																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(6592-6594)CGT>CTT		odz, odd Oz/ten-m homolog 3							109.0	106.0	107.0					4																	183714418		1918	4129	6047	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714418G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6593G>T	4.37:g.183714418G>T	ENSP00000424226:p.Arg2198Leu						p.R2198L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6630	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2198			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6593G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423790	0.43020	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86497	-2.13;-2.13	4.89	4.89	0.63831	.	.	.	.	.	D	0.90635	0.7063	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	D	0.87102	0.2179	9	0.15499	T	0.54	.	18.2684	0.90060	0.0:0.0:1.0:0.0	.	2198	Q9P273	TEN3_HUMAN	L	2198	ENSP00000424226:R2198L;ENSP00000385276:R2198L	ENSP00000385276:R2198L	R	+	2	0	ODZ3	183951412	1.000000	0.71417	0.977000	0.42913	0.868000	0.49771	7.767000	0.85331	2.534000	0.85438	0.563000	0.77884	CGT		PASS	0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			23	32	23	32	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11364909	11364909	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:11364909T>C	ENST00000304623.8	-	8	1460	c.1271A>G	c.(1270-1272)tAt>tGt	p.Y424C	CTNND2_ENST00000503622.1_Missense_Mutation_p.Y87C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.Y424C|CTNND2_ENST00000511377.1_Missense_Mutation_p.Y333C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	424					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y424C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGGTCTTCATAGATGGGATC	0.617																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1270-1272)TAT>TGT		catenin (cadherin-associated protein), delta 2							53.0	57.0	56.0					5																	11364909		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364909T>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1271A>G	5.37:g.11364909T>C	ENSP00000307134:p.Tyr424Cys					CTNND2_uc010itt.2_Missense_Mutation_p.Y333C|CTNND2_uc011cmy.1_Missense_Mutation_p.Y87C|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	p.Y424C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			8	1416	-			424			ARM 1.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1271A>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549302	0.86127	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	D;D;D;D	0.84589	-1.74;-1.87;-1.75;-1.78	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000006	D	0.90769	0.7102	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91659	0.5341	10	0.72032	D	0.01	-7.8012	15.5559	0.76192	0.0:0.0:0.0:1.0	.	87;424	B4DRK2;Q9UQB3	.;CTND2_HUMAN	C	424;424;333;87;164	ENSP00000307134:Y424C;ENSP00000352661:Y424C;ENSP00000426510:Y333C;ENSP00000426887:Y87C	ENSP00000307134:Y424C	Y	-	2	0	CTNND2	11417909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	2.087000	0.62958	0.533000	0.62120	TAT		PASS	0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		10	41	10	41	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23510028	23510028	+	Splice_Site	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:23510028G>C	ENST00000296682.3	+	4	375		c.e4-1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTCTTTTCAGGTCTCAGAGC	0.483										HNSCC(3;0.000094)																												uc003jgo.2																			1	Unknown(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.e4-1		PR domain containing 9							64.0	61.0	62.0					5																	23510028		1872	4117	5989	SO:0001630	splice_region_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23510028G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.194-1G>C	5.37:g.23510028G>C		HNSCC(3;0.000094)					p.G65_splice	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			4	376	+								B4DX22|Q27Q50	Splice_Site	SNP	ENST00000296682.3	37	c.194_splice	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380062	0.42207	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9987	0.47591	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRDM9	23545785	1.000000	0.71417	0.997000	0.53966	0.773000	0.43773	2.710000	0.47169	2.042000	0.60477	0.609000	0.83330	.		PASS	0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	Intron	9	41	9	41	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24487815	24487815	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:24487815A>G	ENST00000264463.4	-	12	2831	c.2324T>C	c.(2323-2325)cTa>cCa	p.L775P	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	775					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L775P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CATTTCTGCTAGCTTATTAAA	0.423										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2323-2325)CTA>CCA		cadherin 10, type 2 preproprotein							170.0	172.0	172.0					5																	24487815		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487815A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2324T>C	5.37:g.24487815A>G	ENSP00000264463:p.Leu775Pro	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.L775P	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2656	-			775			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2324T>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851083	0.71719	.	.	ENSG00000040731	ENST00000264463	D	0.88354	-2.37	5.81	5.81	0.92471	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97960	1.0337	10	0.87932	D	0	.	15.3313	0.74215	1.0:0.0:0.0:0.0	.	775	Q9Y6N8	CAD10_HUMAN	P	775	ENSP00000264463:L775P	ENSP00000264463:L775P	L	-	2	0	CDH10	24523572	1.000000	0.71417	0.962000	0.40283	0.991000	0.79684	9.197000	0.94985	2.219000	0.72066	0.533000	0.62120	CTA		PASS	0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		55	159	55	159	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35965778	35965778	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:35965778G>A	ENST00000274278.3	-	4	910	c.553C>T	c.(553-555)Cca>Tca	p.P185S	UGT3A1_ENST00000507113.1_Missense_Mutation_p.P151S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P131S|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P185S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	185						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.P185S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGAATACTGGAACATAAGAC	0.468																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(553-555)CCA>TCA		UDP glycosyltransferase 3 family, polypeptide A1							82.0	81.0	81.0					5																	35965778		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965778G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.553C>T	5.37:g.35965778G>A	ENSP00000274278:p.Pro185Ser					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.P185S|UGT3A1_uc011cor.1_Missense_Mutation_p.P151S|UGT3A1_uc003jjy.1_Missense_Mutation_p.P131S	p.P185S	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	710	-	all_lung(31;0.000197)		185			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.553C>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339758	0.60963	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	3.11	2.22	0.28083	.	0.000000	0.64402	D	0.000001	T	0.80944	0.4721	M	0.92604	3.325	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81980	-0.0684	10	0.87932	D	0	.	9.4642	0.38802	0.1151:0.0:0.8849:0.0	.	151;185;131;185	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	S	185;185;151;131	ENSP00000274278:P185S;ENSP00000427079:P185S;ENSP00000426100:P151S;ENSP00000328033:P131S	ENSP00000274278:P185S	P	-	1	0	UGT3A1	36001535	1.000000	0.71417	0.007000	0.13788	0.129000	0.20672	7.201000	0.77847	0.581000	0.29539	0.313000	0.20887	CCA		PASS	0.468	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		36	42	36	42	---	---	---	---
C6	729	broad.mit.edu	37	5	41186173	41186173	+	Splice_Site	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:41186173T>A	ENST00000263413.3	-	6	989	c.725A>T	c.(724-726)gAg>gTg	p.E242V	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Splice_Site_p.E242V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	242	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E242V(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCATACCTCAAAGCCGAC	0.403																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(724-726)GAG>GTG		complement component 6 precursor							125.0	112.0	117.0					5																	41186173		2203	4300	6503	SO:0001630	splice_region_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186173T>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.726+1A>T	5.37:g.41186173T>A						C6_uc003jml.1_Missense_Mutation_p.E242V	p.E242V	NM_000065	NP_000056	P13671	CO6_HUMAN			6	935	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	242			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.725A>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686225	0.68157	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.62232	0.04;0.04	5.99	5.99	0.97316	Membrane attack complex component/perforin (MACPF) domain (1);	0.250304	0.47093	D	0.000250	T	0.67126	0.2860	M	0.76574	2.34	0.45621	D	0.998559	P	0.47302	0.893	B	0.43018	0.405	T	0.73007	-0.4118	10	0.72032	D	0.01	-18.7605	16.4943	0.84223	0.0:0.0:0.0:1.0	.	242	P13671	CO6_HUMAN	V	242	ENSP00000338861:E242V;ENSP00000263413:E242V	ENSP00000263413:E242V	E	-	2	0	C6	41221930	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	4.705000	0.61838	2.291000	0.77112	0.533000	0.62120	GAG		PASS	0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		Missense_Mutation	16	68	16	68	---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41927343	41927343	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:41927343A>C	ENST00000281623.3	+	2	474	c.418A>C	c.(418-420)Atg>Ctg	p.M140L	FBXO4_ENST00000296812.2_Missense_Mutation_p.M140L|FBXO4_ENST00000509134.1_Missense_Mutation_p.M140L	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	140					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.M140L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTTGACTACATGGCAGTGTA	0.348																																						uc003jmq.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(418-420)ATG>CTG		F-box only protein 4 isoform 1							92.0	94.0	93.0					5																	41927343		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927343A>C	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.418A>C	5.37:g.41927343A>C	ENSP00000281623:p.Met140Leu					FBXO4_uc003jmp.2_Missense_Mutation_p.M140L|FBXO4_uc003jmr.2_Missense_Mutation_p.M140L	p.M140L	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			2	474	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	140					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.418A>C	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867639	0.51588	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.53423	0.62;0.62;0.62	5.41	5.41	0.78517	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	L	0.59436	1.845	0.80722	D	1	D;D;P	0.62365	0.991;0.96;0.607	P;D;B	0.64321	0.82;0.924;0.255	T	0.59139	-0.7510	10	0.30078	T	0.28	-18.5984	15.4483	0.75253	1.0:0.0:0.0:0.0	.	140;140;140	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	L	140	ENSP00000296812:M140L;ENSP00000281623:M140L;ENSP00000421749:M140L	ENSP00000281623:M140L	M	+	1	0	FBXO4	41963100	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.052000	0.61016	0.533000	0.62120	ATG		PASS	0.348	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			15	104	15	104	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45645705	45645705	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:45645705T>G	ENST00000303230.4	-	2	488	c.431A>C	c.(430-432)tAc>tCc	p.Y144S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	144					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.Y144S(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						TAAATCCCAGTAAAACCTACA	0.303																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)TAC>TCC		hyperpolarization activated cyclic							32.0	37.0	35.0					5																	45645705		2185	4203	6388	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645705T>G	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.431A>C	5.37:g.45645705T>G	ENSP00000307342:p.Tyr144Ser						p.Y144S	NM_021072	NP_066550	O60741	HCN1_HUMAN			2	456	-			144			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.431A>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647694	0.67358	.	.	ENSG00000164588	ENST00000303230	D	0.85861	-2.04	5.09	5.09	0.68999	Ion transport N-terminal (1);	0.000000	0.53938	D	0.000053	D	0.88160	0.6362	M	0.86178	2.8	0.80722	D	1	B	0.32939	0.391	B	0.37943	0.261	D	0.89174	0.3539	10	0.87932	D	0	.	14.8678	0.70430	0.0:0.0:0.0:1.0	.	144	O60741	HCN1_HUMAN	S	144	ENSP00000307342:Y144S	ENSP00000307342:Y144S	Y	-	2	0	HCN1	45681462	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.004000	0.88535	1.919000	0.55581	0.454000	0.30748	TAC		PASS	0.303	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		29	53	29	53	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82837984	82837984	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:82837984G>T	ENST00000265077.3	+	8	9727	c.9162G>T	c.(9160-9162)gaG>gaT	p.E3054D	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E2067D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3054	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E3054D(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTAATACTGAGGTTGCAACAC	0.438																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9160-9162)GAG>GAT		versican isoform 1 precursor							108.0	113.0	112.0					5																	82837984		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837984G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9162G>T	5.37:g.82837984G>T	ENSP00000265077:p.Glu3054Asp					VCAN_uc003kij.3_Missense_Mutation_p.E2067D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1718D	p.E3054D	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9518	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3054			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9162G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.019890	0.19355	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.17528	2.27;2.27	5.9	1.52	0.23074	.	0.688639	0.13656	N	0.371951	T	0.09069	0.0224	N	0.20986	0.625	0.09310	N	0.999997	B;B	0.30068	0.267;0.11	B;B	0.25759	0.063;0.03	T	0.31475	-0.9942	10	0.29301	T	0.29	.	4.8061	0.13321	0.4102:0.0:0.4502:0.1397	.	2067;3054	P13611-2;P13611	.;CSPG2_HUMAN	D	3054;2067	ENSP00000265077:E3054D;ENSP00000340062:E2067D	ENSP00000265077:E3054D	E	+	3	2	VCAN	82873740	0.013000	0.17824	0.004000	0.12327	0.321000	0.28281	0.710000	0.25748	0.268000	0.21939	0.563000	0.77884	GAG		PASS	0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		26	36	26	36	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113740484	113740484	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:113740484G>T	ENST00000512097.3	+	4	1950	c.932G>T	c.(931-933)gGa>gTa	p.G311V	KCNN2_ENST00000264773.3_Missense_Mutation_p.G311V|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	311					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.G311V(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ATATGCCCAGGAACTGTACTC	0.363																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(931-933)GGA>GTA		small conductance calcium-activated potassium							142.0	141.0	141.0					5																	113740484		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740484G>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.932G>T	5.37:g.113740484G>T	ENSP00000427120:p.Gly311Val						p.G311V	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1389	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	311			Helical; Name=Segment S5; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.932G>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541091	0.85917	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.20738	2.05;2.05	5.42	5.42	0.78866	.	0.101180	0.64402	D	0.000002	T	0.49745	0.1575	M	0.89095	3.005	0.80722	D	1	D	0.53885	0.963	P	0.56127	0.792	T	0.59413	-0.7459	10	0.72032	D	0.01	-2.5958	18.8255	0.92117	0.0:0.0:1.0:0.0	.	311	Q9H2S1	KCNN2_HUMAN	V	311	ENSP00000427120:G311V;ENSP00000264773:G311V	ENSP00000264773:G311V	G	+	2	0	KCNN2	113768383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.545000	0.85829	0.491000	0.48974	GGA		PASS	0.363	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		46	52	46	52	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137726770	137726770	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:137726770G>C	ENST00000314358.5	+	8	1649	c.1449G>C	c.(1447-1449)ttG>ttC	p.L483F	KDM3B_ENST00000394866.1_Missense_Mutation_p.L139F|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	483					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.L483F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CGCAACCTTTGACTTTTGGAA	0.458																																						uc003lcy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(1447-1449)TTG>TTC		jumonji domain containing 1B							76.0	76.0	76.0					5																	137726770		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137726770G>C	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1449G>C	5.37:g.137726770G>C	ENSP00000326563:p.Leu483Phe					KDM3B_uc010jew.1_Missense_Mutation_p.L139F|KDM3B_uc011cys.1_Intron	p.L483F	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	1649	+			483					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1449G>C	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811764	0.32053	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.58797	0.31;0.31	5.57	3.8	0.43715	.	0.098880	0.45606	D	0.000359	T	0.60919	0.2306	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	T	0.59968	-0.7354	10	0.51188	T	0.08	-29.0103	9.6977	0.40167	0.2132:0.0:0.7868:0.0	.	139;483	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	F	483;273;139	ENSP00000326563:L483F;ENSP00000378335:L139F	ENSP00000326563:L483F	L	+	3	2	KDM3B	137754669	0.930000	0.31532	1.000000	0.80357	0.657000	0.38888	1.317000	0.33631	0.709000	0.31976	-0.143000	0.13931	TTG		PASS	0.458	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		6	45	6	45	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188233	140188233	+	Silent	SNP	C	C	T	rs139246893		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:140188233C>T	ENST00000530339.1	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA4_ENST00000512229.2_Silent_p.N487N|PCDHA4_ENST00000356878.4_Silent_p.N487N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N487N(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657																																						uc003lhi.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(1459-1461)AAC>AAT		protocadherin alpha 4 isoform 1 precursor		C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	62.0	65.0	64.0		,,,1461,,1461	3.3	1.0	5	dbSNP_134	64	0,8600		0,0,4300	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	,,,487/948,,487/799	140188233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188233C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1461C>T	5.37:g.140188233C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.N487N|PCDHA4_uc011daa.1_Silent_p.N487N	p.N487N	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1562	+			487			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1461C>T	CCDS54916.1																																																																																				PASS	0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		15	22	15	22	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604611	140604611	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:140604611C>A	ENST00000239449.4	+	1	1534	c.1534C>A	c.(1534-1536)Cac>Aac	p.H512N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.H359N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	512	Cadherin 5. {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.H512N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCCACCTGTTTGC	0.667																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1534-1536)CAC>AAC		protocadherin beta 14 precursor							100.0	105.0	103.0					5																	140604611		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604611C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1534C>A	5.37:g.140604611C>A	ENSP00000239449:p.His512Asn					PCDHB14_uc011dal.1_Missense_Mutation_p.H359N	p.H512N	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1534	+			512			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1534C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	2.346	-0.350086	0.05173	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01705	4.68;4.68	4.15	3.19	0.36642	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00906	0.0030	N	0.01352	-0.895	0.09310	N	1	B	0.26195	0.144	B	0.27715	0.082	T	0.47484	-0.9114	9	0.49607	T	0.09	.	6.7275	0.23365	0.2727:0.452:0.2753:0.0	.	512	Q9Y5E9	PCDBE_HUMAN	N	359;512	ENSP00000444518:H359N;ENSP00000239449:H512N	ENSP00000239449:H512N	H	+	1	0	PCDHB14	140584795	0.000000	0.05858	0.862000	0.33874	0.095000	0.18619	-0.695000	0.05109	2.048000	0.60808	0.556000	0.70494	CAC		PASS	0.667	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		28	42	28	42	---	---	---	---
C5orf46	389336	broad.mit.edu	37	5	147281261	147281261	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:147281261A>G	ENST00000318315.4	-	2	146	c.146T>C	c.(145-147)cTa>cCa	p.L49P	C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000515291.1_Missense_Mutation_p.L49P	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	49						extracellular vesicular exosome (GO:0070062)		p.L49P(1)		NS(1)|lung(1)|prostate(1)	3						CAGGAGGCTTAGGAATTTGGG	0.502																																						uc010jgp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)CTA>CCA		hypothetical protein LOC389336 precursor							239.0	214.0	222.0					5																	147281261		2203	4300	6503	SO:0001583	missense	389336					extracellular region		g.chr5:147281261A>G		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"""skin and saliva secreted protein 1"""						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.146T>C	5.37:g.147281261A>G	ENSP00000315370:p.Leu49Pro					C5orf46_uc003lou.2_Missense_Mutation_p.L49P|C5orf46_uc003lov.3_Missense_Mutation_p.L49P	p.L49P	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN			2	183	-			49					A8K038|Q8WU04	Missense_Mutation	SNP	ENST00000318315.4	37	c.146T>C	CCDS34267.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008323	0.54361	.	.	ENSG00000178776	ENST00000318315;ENST00000515291	T;T	0.61040	0.14;0.14	5.07	5.07	0.68467	.	0.000000	0.41605	D	0.000856	T	0.74527	0.3728	.	.	.	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.77816	-0.2447	9	0.87932	D	0	-21.4588	11.4231	0.49993	1.0:0.0:0.0:0.0	.	49	Q6UWT4	CE046_HUMAN	P	49	ENSP00000315370:L49P;ENSP00000425984:L49P	ENSP00000315370:L49P	L	-	2	0	C5orf46	147261454	0.990000	0.36364	0.794000	0.32065	0.470000	0.32858	4.007000	0.57093	2.257000	0.74773	0.533000	0.62120	CTA		PASS	0.502	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		14	29	14	29	---	---	---	---
HTR4	3360	broad.mit.edu	37	5	147889347	147889347	+	Missense_Mutation	SNP	G	G	A	rs200526857		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:147889347G>A	ENST00000377888.3	-	6	886	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	HTR4_ENST00000517929.1_Missense_Mutation_p.R250C|HTR4_ENST00000362016.2_Missense_Mutation_p.R264C|HTR4_ENST00000314512.6_Missense_Mutation_p.R250C|HTR4_ENST00000520514.1_Missense_Mutation_p.R250C|HTR4_ENST00000521735.1_Missense_Mutation_p.R250C|HTR4_ENST00000360693.3_Missense_Mutation_p.R250C|HTR4_ENST00000354217.2_Missense_Mutation_p.R250C|HTR4_ENST00000521530.1_Missense_Mutation_p.R250C	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	250					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R250C(2)|p.R264C(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GTCCTCATGCGATGAGTGCTA	0.547																																					GBM(120;370 1604 14007 17804 41573)	uc003lpn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(748-750)CGC>TGC		serotonin 5-HT4 receptor isoform b	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						99.0	84.0	89.0					5																	147889347		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147889347G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.748C>T	5.37:g.147889347G>A	ENSP00000367120:p.Arg250Cys					HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.R250C|HTR4_uc003lpj.1_Missense_Mutation_p.R250C|HTR4_uc003lpk.2_Missense_Mutation_p.R250C|HTR4_uc011dby.1_Missense_Mutation_p.R250C|HTR4_uc003lpl.2_Missense_Mutation_p.R264C|HTR4_uc003lpm.2_Missense_Mutation_p.R250C|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.R250C	p.R250C	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	912	-			250			Cytoplasmic (By similarity).		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.748C>T	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423746	0.62733	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	6.02	6.02	0.97574	GPCR, rhodopsin-like superfamily (1);	0.473859	0.25321	N	0.031502	T	0.59742	0.2216	L	0.58969	1.84	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.76071	0.987;0.98;0.985;0.975;0.978;0.978;0.987	T	0.54180	-0.8332	10	0.39692	T	0.17	.	13.9999	0.64427	0.0:0.0:0.8487:0.1513	.	250;250;250;264;250;250;250	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	C	250;250;250;250;250;250;250;250;264	ENSP00000428320:R250C;ENSP00000346156:R250C;ENSP00000314906:R250C;ENSP00000430979:R250C;ENSP00000435904:R250C;ENSP00000427913:R250C;ENSP00000367120:R250C;ENSP00000353915:R250C;ENSP00000355037:R264C	ENSP00000314906:R250C	R	-	1	0	HTR4	147869540	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	5.418000	0.66429	2.865000	0.98341	0.655000	0.94253	CGC		PASS	0.547	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		7	42	7	42	---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149676932	149676932	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:149676932C>A	ENST00000328668.7	-	2	2134	c.1555G>T	c.(1555-1557)Gct>Tct	p.A519S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	519					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)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.A519S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCCCCAAGCACCCCCATTA	0.602																																						uc003lrv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1555-1557)GCT>TCT		arylsulfatase family, member I precursor							78.0	93.0	88.0					5																	149676932		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676932C>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1555G>T	5.37:g.149676932C>A	ENSP00000333395:p.Ala519Ser						p.A519S	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2144	-			519					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1555G>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204688	0.58234	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96459	-4.02;-4.02	4.56	4.56	0.56223	Alkaline-phosphatase-like, core domain (1);	0.052602	0.85682	D	0.000000	D	0.97219	0.9091	M	0.67700	2.07	0.80722	D	1	D	0.61697	0.99	D	0.63597	0.916	D	0.96094	0.9064	10	0.21014	T	0.42	.	17.5297	0.87810	0.0:1.0:0.0:0.0	.	519	Q5FYB1	ARSI_HUMAN	S	519;376	ENSP00000333395:A519S;ENSP00000426879:A376S	ENSP00000333395:A519S	A	-	1	0	ARSI	149657125	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	7.313000	0.78978	2.356000	0.79943	0.643000	0.83706	GCT		PASS	0.602	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		28	70	28	70	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156346549	156346549	+	Silent	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:156346549T>C	ENST00000274532.2	-	9	1112	c.1056A>G	c.(1054-1056)ctA>ctG	p.L352L	TIMD4_ENST00000407087.3_Silent_p.L324L|TIMD4_ENST00000406964.1_Silent_p.L54L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	352						integral component of membrane (GO:0016021)		p.L352L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATGTAGTCTAGCCTGTAAA	0.413																																						uc003lwh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1054-1056)CTA>CTG		T-cell immunoglobulin and mucin domain							109.0	99.0	102.0					5																	156346549		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156346549T>C	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.1056A>G	5.37:g.156346549T>C						TIMD4_uc010jii.2_Silent_p.L324L|TIMD4_uc003lwg.2_Silent_p.L54L	p.L352L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1113	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	352			Cytoplasmic (Potential).		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.1056A>G	CCDS4332.1																																																																																				PASS	0.413	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		22	20	22	20	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378573	156378573	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:156378573G>A	ENST00000274532.2	-	3	685	c.629C>T	c.(628-630)aCa>aTa	p.T210I	TIMD4_ENST00000407087.3_Missense_Mutation_p.T210I	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	210	Thr-rich.					integral component of membrane (GO:0016021)		p.T210I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGAAGACCTGTGGCTTCCTC	0.527																																						uc003lwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(628-630)ACA>ATA		T-cell immunoglobulin and mucin domain							231.0	209.0	217.0					5																	156378573		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156378573G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.629C>T	5.37:g.156378573G>A	ENSP00000274532:p.Thr210Ile					TIMD4_uc010jii.2_Missense_Mutation_p.T210I	p.T210I	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	686	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	210			Extracellular (Potential).|Thr-rich.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.629C>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377559	0.61735	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.26957	1.72;1.7	3.87	2.94	0.34122	.	0.372050	0.22811	N	0.055357	T	0.32224	0.0822	L	0.34521	1.04	0.09310	N	1	D;D	0.62365	0.991;0.985	P;P	0.60949	0.881;0.832	T	0.03875	-1.0996	10	0.72032	D	0.01	-2.3813	9.0799	0.36545	0.0:0.0:0.7622:0.2378	.	210;210	B5MCL9;Q96H15	.;TIMD4_HUMAN	I	210	ENSP00000274532:T210I;ENSP00000385973:T210I	ENSP00000274532:T210I	T	-	2	0	TIMD4	156311151	0.002000	0.14202	0.001000	0.08648	0.683000	0.39861	0.949000	0.29109	1.119000	0.41883	0.561000	0.74099	ACA		PASS	0.527	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		7	34	7	34	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169188602	169188602	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:169188602G>T	ENST00000256935.8	+	25	2607	c.2527G>T	c.(2527-2529)Gtc>Ttc	p.V843F	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.V335F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	843					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V843F(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATGAGATAGTCCAGAGCAA	0.488																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2527-2529)GTC>TTC		dedicator of cytokinesis 2							148.0	144.0	146.0					5																	169188602		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169188602G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2527G>T	5.37:g.169188602G>T	ENSP00000256935:p.Val843Phe					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V335F	p.V843F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	2607	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	843					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2527G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669294	0.88348	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.70869	-0.52;-0.52;-0.52	5.51	5.51	0.81932	.	0.056845	0.64402	D	0.000001	T	0.82139	0.4972	M	0.74467	2.265	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59171	0.823;0.853	T	0.82900	-0.0228	10	0.54805	T	0.06	.	18.5542	0.91077	0.0:0.0:1.0:0.0	.	335;843	E7ERW7;Q92608	.;DOCK2_HUMAN	F	843;224;335;47	ENSP00000256935:V843F;ENSP00000429283:V335F;ENSP00000428841:V47F	ENSP00000256935:V843F	V	+	1	0	DOCK2	169121180	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.836000	0.92105	2.755000	0.94549	0.650000	0.86243	GTC		PASS	0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		17	74	17	74	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169697761	169697761	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:169697761G>A	ENST00000046794.5	-	7	1100	c.485C>T	c.(484-486)cCt>cTt	p.P162L		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	162					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.P162L(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AGGCTTGGCAGGCAGGATGGA	0.592																																						uc003man.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(484-486)CCT>CTT		lymphocyte cytosolic protein 2							98.0	118.0	112.0					5																	169697761		2136	4252	6388	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169697761G>A		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.485C>T	5.37:g.169697761G>A	ENSP00000046794:p.Pro162Leu					LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	p.P162L	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	7	692	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	162					A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.485C>T	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017628	0.75161	.	.	ENSG00000043462	ENST00000046794	T	0.61980	0.06	5.4	4.52	0.55395	.	0.119524	0.56097	D	0.000022	T	0.75989	0.3925	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76634	-0.2887	9	.	.	.	-12.5311	11.7501	0.51843	0.0:0.0:0.8235:0.1765	.	162	Q13094	LCP2_HUMAN	L	162	ENSP00000046794:P162L	.	P	-	2	0	LCP2	169630339	1.000000	0.71417	0.867000	0.34043	0.747000	0.42532	5.296000	0.65698	1.377000	0.46286	0.655000	0.94253	CCT		PASS	0.592	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		7	30	7	30	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176295812	176295812	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:176295812G>T	ENST00000329542.4	+	5	842	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	UNC5A_ENST00000261961.3_Missense_Mutation_p.V150L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	190	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V190L(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGGACCTGGTGGACCCGTC	0.672																																						uc003mey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(568-570)GTG>TTG		netrin receptor Unc5h1 precursor							83.0	67.0	72.0					5																	176295812		2202	4300	6502	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176295812G>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.568G>T	5.37:g.176295812G>T	ENSP00000332737:p.Val190Leu					UNC5A_uc003mex.1_Missense_Mutation_p.V190L|UNC5A_uc010jkg.1_Missense_Mutation_p.V150L	p.V190L	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	760	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	190			Ig-like C2-type.|Extracellular (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.568G>T	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.606922|2.606922	0.46527|0.46527	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000509580|ENST00000329542;ENST00000261961	.|T;T	.|0.62105	.|0.05;0.05	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.194907	.|0.35739	.|N	.|0.003002	T|T	0.38878|0.38878	0.1057|0.1057	N|N	0.04959|0.04959	-0.14|-0.14	0.43417|0.43417	D|D	0.995569|0.995569	.|B;B;B	.|0.22851	.|0.0;0.018;0.076	.|B;B;B	.|0.22386	.|0.008;0.028;0.039	T|T	0.28459|0.28459	-1.0043|-1.0043	5|10	.|0.31617	.|T	.|0.26	-19.2285|-19.2285	10.8695|10.8695	0.46875|0.46875	0.0869:0.0:0.9131:0.0|0.0869:0.0:0.9131:0.0	.|.	.|150;190;190	.|Q6ZN44-3;Q6ZN44;Q6ZN44-2	.|.;UNC5A_HUMAN;.	V|L	155|190;150	.|ENSP00000332737:V190L;ENSP00000261961:V150L	.|ENSP00000261961:V150L	G|V	+|+	2|1	0|0	UNC5A|UNC5A	176228418|176228418	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	1.542000|1.542000	0.36137|0.36137	2.068000|2.068000	0.61886|0.61886	0.561000|0.561000	0.74099|0.74099	GGT|GTG		PASS	0.672	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		7	46	7	46	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176314654	176314654	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:176314654C>A	ENST00000292432.5	-	11	1489	c.1398G>T	c.(1396-1398)gtG>gtT	p.V466V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	466	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.V466V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCATCGCCACTCCCCGGC	0.647																																						uc003mfa.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1396-1398)GTG>GTT		hexokinase 3							39.0	36.0	37.0					5																	176314654		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314654C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1398G>T	5.37:g.176314654C>A						HK3_uc003mez.2_Silent_p.V22V	p.V466V	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1490	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	466			Regulatory.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.1398G>T	CCDS4407.1																																																																																				PASS	0.647	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			12	21	12	21	---	---	---	---
UIMC1	51720	broad.mit.edu	37	5	176334156	176334156	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:176334156C>A	ENST00000377227.4	-	13	2003	c.1871G>T	c.(1870-1872)cGa>cTa	p.R624L	UIMC1_ENST00000377219.2_Missense_Mutation_p.R625L|UIMC1_ENST00000506128.1_Missense_Mutation_p.R458L|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000511320.1_Missense_Mutation_p.R624L			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	624					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.R624L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAAGGAGTCGGCCTTCACT	0.468																																						uc011dfp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1870-1872)CGA>CTA		ubiquitin interaction motif containing 1							89.0	83.0	85.0					5																	176334156		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176334156C>A	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1871G>T	5.37:g.176334156C>A	ENSP00000366434:p.Arg624Leu					UIMC1_uc003mfc.1_Missense_Mutation_p.R501L|UIMC1_uc003mfd.1_Missense_Mutation_p.R254L	p.R624L	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2038	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	624					A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1871G>T	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609630	0.87258	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.22945	1.96;1.96;1.96;1.93	5.32	5.32	0.75619	.	0.192635	0.34178	N	0.004192	T	0.50120	0.1597	M	0.63843	1.955	0.45515	D	0.998472	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.43410	-0.9393	10	0.51188	T	0.08	.	18.1478	0.89663	0.0:1.0:0.0:0.0	.	624;254;546	Q96RL1;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.	L	624;625;624;458;547;255	ENSP00000366434:R624L;ENSP00000366425:R625L;ENSP00000421926:R624L;ENSP00000427480:R458L	ENSP00000314909:R255L	R	-	2	0	UIMC1	176266762	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.309000	0.43699	2.661000	0.90470	0.650000	0.86243	CGA		PASS	0.468	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		6	28	6	28	---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850460	3850460	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:3850460G>T	ENST00000380274.1	+	1	841	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	FAM50B_ENST00000380272.3_Missense_Mutation_p.A139S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	139						nucleus (GO:0005634)		p.A139S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGCCAGGCGCGCCGGAAACCT	0.677																																						uc003mvu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(415-417)GCC>TCC		family with sequence similarity 50, member B							22.0	27.0	25.0					6																	3850460		2200	4295	6495	SO:0001583	missense	26240					nucleus		g.chr6:3850460G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.415G>T	6.37:g.3850460G>T	ENSP00000369627:p.Ala139Ser						p.A139S	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			2	527	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	139					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.415G>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204108	0.01581	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	2.44	-4.88	0.03113	.	0.540658	0.18037	U	0.153745	T	0.03095	0.0091	N	0.05230	-0.09	0.09310	N	1	B	0.10296	0.003	B	0.19666	0.026	T	0.34153	-0.9840	9	0.21540	T	0.41	-3.0929	1.0032	0.01482	0.2262:0.3427:0.2614:0.1697	.	139	Q9Y247	FA50B_HUMAN	S	139	.	ENSP00000369625:A139S	A	+	1	0	FAM50B	3795459	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.063000	0.11655	-1.601000	0.01601	-1.400000	0.01143	GCC		PASS	0.677	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		11	14	11	14	---	---	---	---
FAM217A	222826	broad.mit.edu	37	6	4070123	4070123	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:4070123A>T	ENST00000274673.3	-	7	737	c.334T>A	c.(334-336)Ttt>Att	p.F112I	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	112								p.F112I(1)									ATTACATTAAAGCCAGTTTCC	0.318																																						uc003mvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)TTT>ATT		hypothetical protein LOC222826							39.0	39.0	39.0					6																	4070123		2203	4299	6502	SO:0001583	missense	222826							g.chr6:4070123A>T	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.334T>A	6.37:g.4070123A>T	ENSP00000274673:p.Phe112Ile					C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.F49I	p.F112I	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN			7	674	-	Ovarian(93;0.0925)	all_hematologic(90;0.108)	112					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.334T>A	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.749406	0.49257	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.20881	2.04	5.54	1.79	0.24919	.	0.448514	0.21968	N	0.066487	T	0.04182	0.0116	L	0.29908	0.895	0.21416	N	0.999695	P	0.38078	0.617	B	0.33960	0.173	T	0.27773	-1.0064	10	0.56958	D	0.05	-0.2365	4.4914	0.11815	0.6626:0.1664:0.1711:0.0	.	112	Q8IXS0	CF146_HUMAN	I	112;240	ENSP00000274673:F112I	ENSP00000274673:F112I	F	-	1	0	C6orf146	4015122	0.967000	0.33354	0.225000	0.23894	0.593000	0.36681	2.323000	0.43823	0.159000	0.19401	0.528000	0.53228	TTT		PASS	0.318	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		14	41	14	41	---	---	---	---
HIST1H4K	8362	broad.mit.edu	37	6	27799002	27799002	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:27799002C>A	ENST00000357549.2	-	1	303	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	102					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G102C(1)		breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GCTCAACCACCGAAACCGTAG	0.577																																						uc003njr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GGT>TGT		histone cluster 1, H4k							36.0	39.0	38.0					6																	27799002		2203	4300	6503	SO:0001583	missense	8362				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27799002C>A	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.304G>T	6.37:g.27799002C>A	ENSP00000350159:p.Gly102Cys						p.G102C	NM_003541	NP_003532	P62805	H4_HUMAN			1	304	-			102					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	c.304G>T	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	17.47	3.397500	0.62177	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.25	4.25	0.50352	.	0.000000	0.53938	U	0.000057	T	0.69958	0.3169	.	.	.	0.44181	D	0.996991	.	.	.	.	.	.	T	0.75950	-0.3137	6	0.87932	D	0	.	16.0265	0.80548	0.0:1.0:0.0:0.0	.	.	.	.	C	102	.	ENSP00000350159:G102C	G	-	1	0	HIST1H4K	27906981	1.000000	0.71417	0.836000	0.33094	0.035000	0.12851	5.277000	0.65586	2.064000	0.61679	0.650000	0.86243	GGT		PASS	0.577	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		12	32	12	32	---	---	---	---
HIST1H2AK	8330	broad.mit.edu	37	6	27806029	27806029	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:27806029C>G	ENST00000330180.2	-	1	88	c.89G>C	c.(88-90)cGa>cCa	p.R30P	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R30P(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGTGCACTCGGCCCACTGG	0.632																																						uc003njs.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(88-90)CGA>CCA		histone cluster 1, H2ak							39.0	41.0	40.0					6																	27806029		2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27806029C>G	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.89G>C	6.37:g.27806029C>G	ENSP00000330307:p.Arg30Pro					HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.R30P	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	89	-			30					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.89G>C	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.924512	0.52653	.	.	ENSG00000184348	ENST00000330180	D	0.85339	-1.97	4.42	3.55	0.40652	.	0.000000	0.31484	U	0.007576	D	0.85256	0.5655	.	.	.	0.36321	D	0.858238	.	.	.	.	.	.	D	0.87176	0.2224	7	0.87932	D	0	.	11.9566	0.52984	0.0:0.9132:0.0:0.0868	.	.	.	.	P	30	ENSP00000330307:R30P	ENSP00000330307:R30P	R	-	2	0	HIST1H2AK	27914008	1.000000	0.71417	0.838000	0.33150	0.704000	0.40688	4.507000	0.60434	1.147000	0.42369	0.655000	0.94253	CGA		PASS	0.632	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		5	40	5	40	---	---	---	---
PSORS1C1	170679	broad.mit.edu	37	6	31084548	31084548	+	Intron	SNP	G	G	A	rs564806482	byFrequency	TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:31084548G>A	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Missense_Mutation_p.P282S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1									p.P282S(1)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GGGGGACAGGGCTTGCCTGGA	0.587																																						uc003nsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(844-846)CCC>TCC		corneodesmosin precursor							35.0	34.0	35.0					6																	31084548		2049	4054	6103	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084548G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1880G>A	6.37:g.31084548G>A						PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	p.P282S	NM_001264	NP_001255	Q15517	CDSN_HUMAN			2	871	-			282			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.844C>T	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819606	0.71028	.	.	ENSG00000204539	ENST00000376288	T	0.17528	2.27	4.76	4.76	0.60689	.	0.000000	0.50627	D	0.000111	T	0.20941	0.0504	L	0.36672	1.1	0.33158	D	0.54663	D	0.89917	1.0	D	0.87578	0.998	T	0.02161	-1.1203	10	0.87932	D	0	-21.9176	13.2439	0.60012	0.0:0.0:1.0:0.0	.	282	Q15517	CDSN_HUMAN	S	282	ENSP00000365465:P282S	ENSP00000365465:P282S	P	-	1	0	CDSN	31192527	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.120000	0.41968	2.192000	0.70111	0.549000	0.68633	CCC		PASS	0.587	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		15	26	15	26	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34839685	34839685	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:34839685G>C	ENST00000192788.5	+	20	4351	c.4180G>C	c.(4180-4182)Gag>Cag	p.E1394Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E1394Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1394							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.E1394Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCCACAGGAGAGGTTTTTGA	0.502																																						uc003oju.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4180-4182)GAG>CAG		ICBP90 binding protein 1							38.0	37.0	37.0					6																	34839685		1867	4099	5966	SO:0001583	missense	54887							g.chr6:34839685G>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4180G>C	6.37:g.34839685G>C	ENSP00000192788:p.Glu1394Gln					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.E1394Q	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			20	4414	+			1394					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.4180G>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023334	0.07634	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08282	3.12;3.11	6.08	2.88	0.33553	.	0.477105	0.20995	N	0.081966	T	0.00580	0.0019	N	0.00841	-1.15	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46762	-0.9168	10	0.06365	T	0.9	-12.5679	8.338	0.32225	0.1604:0.1375:0.7021:0.0	.	1394	Q6BDS2	URFB1_HUMAN	Q	1394	ENSP00000192788:E1394Q;ENSP00000400628:E1394Q	ENSP00000192788:E1394Q	E	+	1	0	UHRF1BP1	34947663	0.798000	0.28890	0.980000	0.43619	0.663000	0.39108	1.756000	0.38390	0.879000	0.35944	-0.140000	0.14226	GAG		PASS	0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		5	22	5	22	---	---	---	---
FRS3	10817	broad.mit.edu	37	6	41738623	41738623	+	Missense_Mutation	SNP	G	G	A	rs142682061		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:41738623G>A	ENST00000373018.3	-	7	1464	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	FRS3_ENST00000259748.2_Missense_Mutation_p.R405C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	405					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)	p.R405C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCGGCCGGCGGAAATCAAAG	0.682																																						uc003orc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1213-1215)CGC>TGC		fibroblast growth factor receptor substrate 3		G	CYS/ARG	0,4380		0,0,2190	19.0	25.0	23.0		1213	5.8	1.0	6	dbSNP_134	23	1,8575		0,1,4287	no	missense	FRS3	NM_006653.3	180	0,1,6477	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	405/493	41738623	1,12955	2190	4288	6478	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738623G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1213C>T	6.37:g.41738623G>A	ENSP00000362109:p.Arg405Cys						p.R405C	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1457	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		405					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1213C>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846281	0.91277	0.0	1.17E-4	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.35789	1.29;1.29	5.76	5.76	0.90799	.	0.049085	0.85682	D	0.000000	T	0.51517	0.1679	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	T	0.52366	-0.8585	10	0.87932	D	0	-37.9526	19.5656	0.95391	0.0:0.0:1.0:0.0	.	405	O43559	FRS3_HUMAN	C	405	ENSP00000362109:R405C;ENSP00000259748:R405C	ENSP00000259748:R405C	R	-	1	0	FRS3	41846601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.307000	0.72815	2.728000	0.93425	0.655000	0.94253	CGC		PASS	0.682	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		10	46	10	46	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44218232	44218232	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:44218232A>T	ENST00000371554.1	+	6	1067	c.853A>T	c.(853-855)Acc>Tcc	p.T285S	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.T285S|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.T285S			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	285					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.T285S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTAAACAAGACCAAGCCTAT	0.428																																						uc003oxa.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)	4						c.(853-855)ACC>TCC		heat shock 90kDa protein 1, beta							87.0	83.0	85.0					6																	44218232		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44218232A>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.853A>T	6.37:g.44218232A>T	ENSP00000360609:p.Thr285Ser					HSP90AB1_uc011dvr.1_Missense_Mutation_p.T275S|HSP90AB1_uc003oxb.1_Missense_Mutation_p.T285S|HSP90AB1_uc011dvs.1_Missense_Mutation_p.T105S|HSP90AB1_uc003oxc.1_5'UTR	p.T285S	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	937	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		285					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.853A>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481541	0.63849	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.09911	2.93;2.93;2.93	4.41	4.41	0.53225	Ribosomal protein S5 domain 2-type fold (1);ATPase-like, ATP-binding domain (1);	0.000000	0.64402	U	0.000001	T	0.13927	0.0337	M	0.92555	3.32	0.80722	D	1	B;B;B	0.21688	0.059;0.029;0.011	B;B;B	0.27076	0.076;0.034;0.032	T	0.04103	-1.0977	10	0.59425	D	0.04	-16.2541	13.6652	0.62391	1.0:0.0:0.0:0.0	.	247;275;285	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	S	285	ENSP00000360709:T285S;ENSP00000325875:T285S;ENSP00000360609:T285S	ENSP00000325875:T285S	T	+	1	0	HSP90AB1	44326210	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.249000	0.95470	1.643000	0.50594	0.377000	0.23210	ACC		PASS	0.428	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		14	42	14	42	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46661523	46661523	+	Silent	SNP	C	C	T	rs373939719		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:46661523C>T	ENST00000316081.6	+	1	5658	c.5658C>T	c.(5656-5658)ggC>ggT	p.G1886G	TDRD6_ENST00000544460.1_Silent_p.G1886G	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1886					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.G1886G(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)			TCACAAAAGGCGCCATGGAGC	0.498																																						uc003oyj.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(5656-5658)GGC>GGT		tudor domain containing 6		C	,	0,4406		0,0,2203	52.0	55.0	54.0		5658,5658	-2.2	0.0	6		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TDRD6	NM_001010870.2,NM_001168359.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1886/2097,1886/2067	46661523	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661523C>T	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.5658C>T	6.37:g.46661523C>T						TDRD6_uc010jze.2_Silent_p.G1880G	p.G1886G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5658	+			1886					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.5658C>T	CCDS34470.1																																																																																				PASS	0.498	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		24	31	24	31	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47647862	47647862	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:47647862C>A	ENST00000296862.1	+	5	527	c.527C>A	c.(526-528)aCt>aAt	p.T176N	GPR111_ENST00000507065.1_Missense_Mutation_p.T108N|GPR111_ENST00000398742.2_Missense_Mutation_p.T108N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	176					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.T108N(1)|p.T176N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGTGTATATACTGGAAAGTCT	0.333																																						uc010jzj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(526-528)ACT>AAT		G-protein coupled receptor 111							75.0	71.0	73.0					6																	47647862		1821	4087	5908	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47647862C>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.527C>A	6.37:g.47647862C>A	ENSP00000296862:p.Thr176Asn					GPR111_uc010jzk.1_Missense_Mutation_p.T108N|GPR111_uc003oyy.2_RNA	p.T176N	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			5	528	+			176			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.527C>A		.	.	.	.	.	.	.	.	.	.	C	4.243	0.044057	0.08196	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.22743	1.94;1.94;1.94	5.31	0.113	0.14631	.	2.179520	0.02353	N	0.076136	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.29458	-1.0011	10	0.15952	T	0.53	.	4.7474	0.13043	0.444:0.3902:0.0:0.1657	.	108;176	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	N	108;176;108	ENSP00000422934:T108N;ENSP00000296862:T176N;ENSP00000381727:T108N	ENSP00000296862:T176N	T	+	2	0	GPR111	47755821	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.440000	0.06888	0.064000	0.16427	-0.278000	0.10074	ACT		PASS	0.333	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		21	38	21	38	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47649302	47649302	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:47649302C>A	ENST00000296862.1	+	6	1007	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	GPR111_ENST00000507065.1_Missense_Mutation_p.P268H|GPR111_ENST00000398742.2_Missense_Mutation_p.P268H			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	336					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.P336H(1)|p.P268H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTGCCTTCCCCTTCTCAGGTC	0.418																																						uc010jzj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1006-1008)CCT>CAT		G-protein coupled receptor 111							147.0	138.0	141.0					6																	47649302		1880	4114	5994	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649302C>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1007C>A	6.37:g.47649302C>A	ENSP00000296862:p.Pro336His					GPR111_uc010jzk.1_Missense_Mutation_p.P268H|GPR111_uc003oyy.2_RNA	p.P336H	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1008	+			336			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1007C>A		.	.	.	.	.	.	.	.	.	.	C	10.94	1.492164	0.26774	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.41400	1.0;1.0;1.0	5.52	3.7	0.42460	.	0.534608	0.18394	N	0.142566	T	0.44265	0.1285	M	0.75777	2.31	0.09310	N	1	D;D	0.69078	0.995;0.997	P;P	0.58820	0.846;0.808	T	0.37934	-0.9684	10	0.48119	T	0.1	.	12.3782	0.55291	0.3069:0.6931:0.0:0.0	.	268;336	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	H	268;336;268	ENSP00000422934:P268H;ENSP00000296862:P336H;ENSP00000381727:P268H	ENSP00000296862:P336H	P	+	2	0	GPR111	47757261	0.005000	0.15991	0.001000	0.08648	0.176000	0.22953	1.224000	0.32539	0.652000	0.30806	0.585000	0.79938	CCT		PASS	0.418	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		38	107	38	107	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49696558	49696558	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:49696558T>C	ENST00000393666.1	-	7	629	c.623A>G	c.(622-624)aAg>aGg	p.K208R	CRISP3_ENST00000423399.2_Missense_Mutation_p.K118R|CRISP3_ENST00000433368.2_Missense_Mutation_p.K231R|CRISP3_ENST00000263045.4_Missense_Mutation_p.K221R|CRISP3_ENST00000371159.4_Missense_Mutation_p.K239R			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	208	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.K208R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATCTTCGTACTTGCAACCATT	0.363																																						uc003ozs.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(622-624)AAG>AGG		cysteine-rich secretory protein 3 precursor							125.0	116.0	119.0					6																	49696558		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49696558T>C	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.623A>G	6.37:g.49696558T>C	ENSP00000377274:p.Lys208Arg						p.K208R	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	638	-	Lung NSC(77;0.0161)		208					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.623A>G		.	.	.	.	.	.	.	.	.	.	T	6.844	0.524960	0.13066	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.14266	3.1;3.09;3.11;2.52;3.09	4.41	-0.625	0.11548	Cysteine-rich secretory protein (1);	2.724420	0.02301	U	0.071174	T	0.02304	0.0071	N	0.21282	0.65	0.09310	N	1	B	0.18863	0.031	B	0.24155	0.051	T	0.38112	-0.9676	10	0.16896	T	0.51	.	2.7177	0.05192	0.2399:0.2288:0.0:0.5313	.	208	P54108	CRIS3_HUMAN	R	221;231;208;118;239	ENSP00000263045:K221R;ENSP00000389026:K231R;ENSP00000377274:K208R;ENSP00000410469:K118R;ENSP00000360201:K239R	ENSP00000263045:K221R	K	-	2	0	CRISP3	49804517	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	0.156000	0.19299	-0.315000	0.08773	AAG		PASS	0.363	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		21	63	21	63	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54735284	54735284	+	Silent	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:54735284T>C	ENST00000306858.7	+	2	356	c.240T>C	c.(238-240)gaT>gaC	p.D80D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	80								p.D80D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATGGTACTGATGATTCCTGTG	0.428																																						uc003pck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(238-240)GAT>GAC		hypothetical protein LOC222584							129.0	130.0	130.0					6																	54735284		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54735284T>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.240T>C	6.37:g.54735284T>C							p.D80D	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			2	356	+	Lung NSC(77;0.0178)|Renal(3;0.122)		80					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.240T>C	CCDS34479.1																																																																																				PASS	0.428	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		57	131	57	131	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54805042	54805042	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:54805042G>T	ENST00000306858.7	+	5	1389	c.1273G>T	c.(1273-1275)Gtg>Ttg	p.V425L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	425								p.V425L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGTCTCAGTGTGGCGTCCTC	0.478																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1273-1275)GTG>TTG		hypothetical protein LOC222584							71.0	73.0	72.0					6																	54805042		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805042G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1273G>T	6.37:g.54805042G>T	ENSP00000304078:p.Val425Leu						p.V425L	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1389	+	Lung NSC(77;0.0178)|Renal(3;0.122)		425					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1273G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691508	0.30052	.	.	ENSG00000168143	ENST00000306858	T	0.09723	2.95	5.56	5.56	0.83823	.	0.085836	0.50627	D	0.000116	T	0.05364	0.0142	M	0.68317	2.08	0.35232	D	0.77701	P	0.37441	0.595	B	0.31016	0.123	T	0.19257	-1.0311	10	0.30854	T	0.27	-20.1188	10.0865	0.42421	0.1541:0.0:0.8459:0.0	.	425	Q5T0W9	FA83B_HUMAN	L	425	ENSP00000304078:V425L	ENSP00000304078:V425L	V	+	1	0	FAM83B	54913001	1.000000	0.71417	0.998000	0.56505	0.593000	0.36681	3.676000	0.54612	2.775000	0.95449	0.655000	0.94253	GTG		PASS	0.478	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		23	34	23	34	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54805695	54805695	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:54805695G>C	ENST00000306858.7	+	5	2042	c.1926G>C	c.(1924-1926)ttG>ttC	p.L642F	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	642								p.L642F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATAAAACCTTGGGTGTAAATA	0.358																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1924-1926)TTG>TTC		hypothetical protein LOC222584							44.0	46.0	45.0					6																	54805695		2200	4295	6495	SO:0001583	missense	222584							g.chr6:54805695G>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1926G>C	6.37:g.54805695G>C	ENSP00000304078:p.Leu642Phe						p.L642F	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2042	+	Lung NSC(77;0.0178)|Renal(3;0.122)		642					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1926G>C	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396683	0.25205	.	.	ENSG00000168143	ENST00000306858	T	0.32023	1.47	5.55	4.66	0.58398	.	0.651188	0.13886	N	0.355956	T	0.36580	0.0972	M	0.66939	2.045	0.36088	D	0.84326	D	0.71674	0.998	P	0.58721	0.844	T	0.05666	-1.0871	10	0.34782	T	0.22	-12.7421	12.3097	0.54922	0.0686:0.1213:0.8101:0.0	.	642	Q5T0W9	FA83B_HUMAN	F	642	ENSP00000304078:L642F	ENSP00000304078:L642F	L	+	3	2	FAM83B	54913654	0.944000	0.32072	0.961000	0.40146	0.944000	0.59088	0.644000	0.24766	2.773000	0.95371	0.655000	0.94253	TTG		PASS	0.358	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		18	44	18	44	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55198715	55198715	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:55198715C>A	ENST00000340465.2	+	3	375	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	97					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L97I(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACAAACTGCTTGGAAAAAA	0.294																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(289-291)CTT>ATT		GDNF family receptor alpha like precursor							101.0	106.0	104.0					6																	55198715		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55198715C>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.289C>A	6.37:g.55198715C>A	ENSP00000343636:p.Leu97Ile						p.L97I	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	375	+	Lung NSC(77;0.0875)|Renal(3;0.122)		97			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.289C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303764	0.23736	.	.	ENSG00000187871	ENST00000340465	T	0.37915	1.17	5.13	2.31	0.28768	GDNF/GAS1 (1);	0.094281	0.45867	D	0.000323	T	0.09992	0.0245	L	0.34521	1.04	0.21445	N	0.99969	B	0.25667	0.131	B	0.24974	0.057	T	0.23404	-1.0189	10	0.41790	T	0.15	-31.3031	7.1331	0.25512	0.0:0.7193:0.0:0.2807	.	97	Q6UXV0	GFRAL_HUMAN	I	97	ENSP00000343636:L97I	ENSP00000343636:L97I	L	+	1	0	GFRAL	55306674	0.941000	0.31946	0.794000	0.32065	0.562000	0.35680	0.008000	0.13197	0.154000	0.19237	0.655000	0.94253	CTT		PASS	0.294	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		33	107	33	107	---	---	---	---
DST	667	broad.mit.edu	37	6	56350150	56350150	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:56350150C>A	ENST00000361203.3	-	83	20214	c.20207G>T	c.(20206-20208)gGa>gTa	p.G6736V	DST_ENST00000421834.2_Missense_Mutation_p.G4759V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.G7025V|DST_ENST00000446842.2_Missense_Mutation_p.G6521V|DST_ENST00000370769.4_Missense_Mutation_p.G6847V|DST_ENST00000244364.6_Missense_Mutation_p.G4433V|DST_ENST00000370788.2_Missense_Mutation_p.G4650V			Q03001	DYST_HUMAN	dystonin	6735					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.G4433V(1)|p.G6847V(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAATGTCTCCATGAACAGG	0.393																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(14809-14811)GGA>GTA		dystonin isoform 2							121.0	117.0	119.0					6																	56350150		1842	4085	5927	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56350150C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20207G>T	6.37:g.56350150C>A	ENSP00000354508:p.Gly6736Val					DST_uc003pcz.3_Missense_Mutation_p.G4759V|DST_uc011dxj.1_Missense_Mutation_p.G4788V|DST_uc011dxk.1_Missense_Mutation_p.G4799V|DST_uc003pcy.3_Missense_Mutation_p.G4433V|DST_uc003pda.3_Missense_Mutation_p.G129V	p.G4937V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		82	14838	-	Lung NSC(77;0.103)		6845			Spectrin 19.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.14810G>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.028798	0.75504	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.58	5.58	0.84498	.	0.000000	0.51477	D	0.000091	T	0.70561	0.3238	M	0.87180	2.865	0.37064	D	0.898204	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;0.998	T	0.72690	-0.4217	9	0.52906	T	0.07	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	4759;6847;7025;129;6845;4433	Q5TBT1;E7ERU2;E9PEB9;Q9H722;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	V	4433;7025;6847;4759;6521;4650;6736	ENSP00000244364:G4433V;ENSP00000359790:G7025V;ENSP00000359805:G6847V;ENSP00000400883:G4759V;ENSP00000393645:G6521V;ENSP00000359824:G4650V;ENSP00000354508:G6736V	ENSP00000244364:G4433V	G	-	2	0	DST	56458109	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.776000	0.85560	2.779000	0.95612	0.650000	0.86243	GGA		PASS	0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		23	66	23	66	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69758173	69758173	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:69758173C>G	ENST00000370598.1	+	14	3025	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	735					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.S735*(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)				GCAAGAAACTCAGAAGATAGG	0.388																																						uc003pev.3																			1	Substitution - Nonsense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2203-2205)TCA>TGA		brain-specific angiogenesis inhibitor 3							79.0	83.0	82.0					6																	69758173		2203	4300	6503	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758173C>G	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.2204C>G	6.37:g.69758173C>G	ENSP00000359630:p.Ser735*					BAI3_uc010kak.2_Nonsense_Mutation_p.S735*	p.S735*	NM_001704	NP_001695	O60242	BAI3_HUMAN			14	2652	+		all_lung(197;0.212)	735			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.2204C>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	48	14.022150	0.99775	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.9103	0.92481	0.0:1.0:0.0:0.0	.	.	.	.	X	735	.	ENSP00000359630:S735X	S	+	2	0	BAI3	69814894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.547000	0.85894	0.655000	0.94253	TCA		PASS	0.388	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			17	25	17	25	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75814930	75814930	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:75814930C>A	ENST00000322507.8	-	54	8566	c.8257G>T	c.(8257-8259)Ggc>Tgc	p.G2753C	COL12A1_ENST00000345356.6_Missense_Mutation_p.G1589C|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2753C|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2677C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2753	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G2753C(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACTGCAGGGCCTGGAGGTCCT	0.388																																						uc003phs.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8257-8259)GGC>TGC		collagen, type XII, alpha 1 long isoform							58.0	69.0	65.0					6																	75814930		1871	4115	5986	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75814930C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8257G>T	6.37:g.75814930C>A	ENSP00000325146:p.Gly2753Cys					COL12A1_uc003pht.2_Missense_Mutation_p.G1589C	p.G2753C	NM_004370	NP_004361	Q99715	COCA1_HUMAN			54	8423	-			2753			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8257G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641026	0.87859	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96877	0.9643	10	0.87932	D	0	.	19.6611	0.95871	0.0:1.0:0.0:0.0	.	1589;2753	Q99715-2;Q99715	.;COCA1_HUMAN	C	2753;391;2677;1589;2677;2753	ENSP00000325146:G2753C;ENSP00000399812:G391C;ENSP00000305147:G1589C;ENSP00000412864:G2677C;ENSP00000421216:G2753C	ENSP00000325146:G2753C	G	-	1	0	COL12A1	75871650	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	7.152000	0.77419	2.643000	0.89663	0.655000	0.94253	GGC		PASS	0.388	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		9	19	9	19	---	---	---	---
ME1	4199	broad.mit.edu	37	6	84055988	84055988	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:84055988G>A	ENST00000369705.3	-	5	620	c.504C>T	c.(502-504)ggC>ggT	p.G168G	ME1_ENST00000543031.1_Silent_p.G93G|ME1_ENST00000541327.1_Silent_p.G2G	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	168					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.G168G(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CCACAGGGATGCCCATTCCAT	0.448																																						uc003pjy.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(502-504)GGC>GGT		cytosolic malic enzyme 1	NADH(DB00157)						95.0	85.0	89.0					6																	84055988		2203	4300	6503	SO:0001819	synonymous_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84055988G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.504C>T	6.37:g.84055988G>A						ME1_uc011dzb.1_Silent_p.G93G|ME1_uc011dzc.1_Silent_p.G2G	p.G168G	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	5	610	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	168					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	c.504C>T	CCDS34492.1																																																																																				PASS	0.448	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			3	43	3	43	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854435	88854435	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:88854435T>A	ENST00000537554.1	-	2	4121	c.559A>T	c.(559-561)Aac>Tac	p.N187Y	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.N187Y|CNR1_ENST00000369501.2_Missense_Mutation_p.N187Y|CNR1_ENST00000549890.1_Missense_Mutation_p.N187Y|CNR1_ENST00000428600.2_Missense_Mutation_p.N187Y|CNR1_ENST00000549716.1_Missense_Mutation_p.N126Y|CNR1_ENST00000468898.1_Missense_Mutation_p.N154Y|CNR1_ENST00000369499.2_Missense_Mutation_p.N187Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	187					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.N187Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGAAACACGTTGCGGCTATCT	0.557																																						uc011dzq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(559-561)AAC>TAC		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						45.0	46.0	45.0					6																	88854435		2201	4294	6495	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854435T>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.559A>T	6.37:g.88854435T>A	ENSP00000441046:p.Asn187Tyr					CNR1_uc010kbz.2_Missense_Mutation_p.N187Y|CNR1_uc011dzr.1_Missense_Mutation_p.N187Y|CNR1_uc011dzs.1_Missense_Mutation_p.N187Y|CNR1_uc003pmq.3_Missense_Mutation_p.N187Y|CNR1_uc011dzt.1_Missense_Mutation_p.N187Y|CNR1_uc010kca.2_Missense_Mutation_p.N154Y	p.N187Y	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4122	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	187			Extracellular (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.559A>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773695	0.31411	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.77	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.67548	0.952;0.836	T	0.75739	-0.3212	10	0.72032	D	0.01	.	13.0602	0.59002	0.0:0.0:0.1345:0.8655	.	154;187	P21554-3;P21554	.;CNR1_HUMAN	Y	187;187;187;187;187;154;187;126	ENSP00000358513:N187Y;ENSP00000442689:N187Y;ENSP00000441046:N187Y;ENSP00000358511:N187Y;ENSP00000446819:N187Y;ENSP00000420188:N154Y;ENSP00000412192:N187Y;ENSP00000449549:N126Y	ENSP00000358511:N187Y	N	-	1	0	CNR1	88911154	1.000000	0.71417	0.985000	0.45067	0.052000	0.14988	8.040000	0.89188	0.997000	0.38969	-0.460000	0.05396	AAC		PASS	0.557	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			12	12	12	12	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90499535	90499535	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:90499535G>C	ENST00000369393.3	-	7	1309	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	MDN1_ENST00000428876.1_Missense_Mutation_p.I398M			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	398					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.I398M(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCCAGAAGGATCCAGTGGC	0.478																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(1192-1194)ATC>ATG		MDN1, midasin homolog							68.0	73.0	71.0					6																	90499535		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90499535G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1194C>G	6.37:g.90499535G>C	ENSP00000358400:p.Ile398Met					MDN1_uc003pnp.1_Missense_Mutation_p.I398M	p.I398M	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	7	1310	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	398					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1194C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104547	0.37145	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.47528	0.84;0.84;0.84	5.3	3.34	0.38264	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.76433	2.335	0.44030	D	0.996754	D;D	0.69078	0.962;0.997	D;D	0.75484	0.95;0.986	T	0.62666	-0.6806	10	0.87932	D	0	.	10.3413	0.43879	0.0838:0.0:0.7369:0.1793	.	398;398	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	M	398	ENSP00000358400:I398M;ENSP00000413970:I398M;ENSP00000409664:I398M	ENSP00000358400:I398M	I	-	3	3	MDN1	90556256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.353000	0.44089	1.245000	0.43885	0.655000	0.94253	ATC		PASS	0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			12	31	12	31	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90604410	90604410	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:90604410A>T	ENST00000369352.1	+	1	223	c.223A>T	c.(223-225)Atc>Ttc	p.I75F		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	75					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.I75F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TATCTCTTTGATCAGGTTCTG	0.458																																						uc011eaa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)ATC>TTC		gap junction protein, alpha 10							151.0	119.0	130.0					6																	90604410		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604410A>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.223A>T	6.37:g.90604410A>T	ENSP00000358358:p.Ile75Phe						p.I75F	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	223	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	75			Extracellular (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.223A>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.840093	0.71488	.	.	ENSG00000135355	ENST00000369352	D	0.99232	-5.6	4.8	3.63	0.41609	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.67517	2.055	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	D	0.99741	1.1015	10	0.87932	D	0	.	10.5729	0.45211	0.9237:0.0:0.0763:0.0	.	75	Q969M2	CXA10_HUMAN	F	75	ENSP00000358358:I75F	ENSP00000358358:I75F	I	+	1	0	GJA10	90661131	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.970000	0.70431	0.868000	0.35678	0.460000	0.39030	ATC		PASS	0.458	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		19	21	19	21	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100896435	100896435	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:100896435G>T	ENST00000369208.3	-	7	1445	c.663C>A	c.(661-663)gcC>gcA	p.A221A	SIM1_ENST00000262901.4_Silent_p.A221A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	221	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A221A(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCTCCGTGACGGCGCTGGGAG	0.602																																						uc003pqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(661-663)GCC>GCA		single-minded homolog 1							59.0	52.0	54.0					6																	100896435		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896435G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.663C>A	6.37:g.100896435G>T						SIM1_uc010kcu.2_Silent_p.A221A	p.A221A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	870	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	221			PAS 2.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.663C>A	CCDS5045.1																																																																																				PASS	0.602	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		9	19	9	19	---	---	---	---
HEY2	23493	broad.mit.edu	37	6	126080274	126080274	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:126080274G>C	ENST00000368364.3	+	5	537	c.340G>C	c.(340-342)Gca>Cca	p.A114P	HEY2_ENST00000368365.1_Missense_Mutation_p.A68P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	114	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A114P(1)|p.A114T(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTACTTTGACGCACACGCTCT	0.527																																						uc003qad.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	breast(1)	1						c.(340-342)GCA>CCA		hairy/enhancer-of-split related with YRPW motif							127.0	119.0	122.0					6																	126080274		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080274G>C	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.340G>C	6.37:g.126080274G>C	ENSP00000357348:p.Ala114Pro					HEY2_uc011ebr.1_Missense_Mutation_p.A68P	p.A114P	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	531	+			114			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).			Missense_Mutation	SNP	ENST00000368364.3	37	c.340G>C	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901631	0.92035	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.42900	0.96;0.96	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.20780	0.0500	N	0.16201	0.385	0.80722	D	1	B	0.31100	0.308	B	0.35550	0.205	T	0.08046	-1.0741	10	0.36615	T	0.2	-8.2687	19.5573	0.95357	0.0:0.0:1.0:0.0	.	114	Q9UBP5	HEY2_HUMAN	P	68;114	ENSP00000357349:A68P;ENSP00000357348:A114P	ENSP00000357348:A114P	A	+	1	0	HEY2	126121967	1.000000	0.71417	0.872000	0.34217	0.948000	0.59901	7.917000	0.87498	2.629000	0.89072	0.561000	0.74099	GCA		PASS	0.527	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			15	28	15	28	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151857477	151857477	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:151857477G>T	ENST00000239374.7	+	2	181	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.V28F	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	28								p.V28F(1)									TCTTTCGGAAGTCCCGGTCAC	0.438																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)GTC>TTC		hypothetical protein LOC80129							101.0	96.0	97.0					6																	151857477		1849	4092	5941	SO:0001583	missense	80129							g.chr6:151857477G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.82G>T	6.37:g.151857477G>T	ENSP00000239374:p.Val28Phe						p.V28F	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	2	171	+		Ovarian(120;0.126)	28					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.82G>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074025	0.36566	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09817	2.94;2.94	5.95	3.21	0.36854	.	0.482216	0.20540	N	0.090338	T	0.07863	0.0197	M	0.72479	2.2	0.27954	N	0.937047	P	0.49090	0.919	P	0.49421	0.61	T	0.14671	-1.0464	10	0.54805	T	0.06	-2.6489	5.5424	0.17045	0.2887:0.0:0.5829:0.1283	.	28	Q8IYT3	CF097_HUMAN	F	28	ENSP00000239374:V28F;ENSP00000356259:V28F	ENSP00000239374:V28F	V	+	1	0	C6orf97	151899170	0.377000	0.25106	0.834000	0.33040	0.009000	0.06853	0.480000	0.22244	0.411000	0.25702	-0.157000	0.13467	GTC		PASS	0.438	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		25	37	25	37	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162394435	162394435	+	Missense_Mutation	SNP	T	T	G	rs137853060		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:162394435T>G	ENST00000366898.1	-	6	735	c.633A>C	c.(631-633)aaA>aaC	p.K211N	PARK2_ENST00000366896.1_Missense_Mutation_p.K62N|PARK2_ENST00000366894.1_Missense_Mutation_p.K20N|PARK2_ENST00000366892.1_Missense_Mutation_p.K211N|PARK2_ENST00000366897.1_Missense_Mutation_p.K183N|PARK2_ENST00000338468.3_Missense_Mutation_p.K20N	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	211	SYT11 binding 1.		K -> N (in PARK2; severely compromises the mitochondrial localization; fails to stabilize BCL2). {ECO:0000269|PubMed:10824074, ECO:0000269|PubMed:12114481, ECO:0000269|PubMed:12629236}.|K -> R (in PARK2). {ECO:0000269|PubMed:11179010}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.K211N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTGCTCCACATTTAAAGAAAA	0.413																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1	GRCh37	CM003860	PARK2	M	rs137853060	c.(631-633)AAA>AAC		parkin isoform 1							123.0	104.0	110.0					6																	162394435		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162394435T>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.633A>C	6.37:g.162394435T>G	ENSP00000355865:p.Lys211Asn					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.K20N|PARK2_uc003qtw.3_Missense_Mutation_p.K20N|PARK2_uc003qty.3_Missense_Mutation_p.K183N|PARK2_uc003qtz.3_Missense_Mutation_p.K62N|PARK2_uc010kke.1_Missense_Mutation_p.K211N	p.K211N	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	6	767	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	211		K -> R (in PARK; early onset).|K -> N (in PARK; early and late onset; severely compromises the mitochondrial localization).	SYT11 binding 1.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.633A>C	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522367	0.64747	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.94687	-3.18;-3.26;-3.29;-2.79;-2.79;-3.49	4.81	2.43	0.29744	.	0.064974	0.64402	D	0.000020	D	0.95765	0.8622	M	0.87180	2.865	0.36534	D	0.870874	D;D;P;D;D	0.71674	0.973;0.998;0.927;0.972;0.97	P;D;P;P;P	0.76071	0.843;0.987;0.674;0.78;0.632	D	0.94682	0.7866	10	0.87932	D	0	.	7.0196	0.24907	0.0:0.1863:0.0:0.8137	.	211;62;183;211;20	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	N	211;183;62;20;20;20;211;132	ENSP00000355865:K211N;ENSP00000355863:K183N;ENSP00000355862:K62N;ENSP00000355860:K20N;ENSP00000343589:K20N;ENSP00000355858:K211N	ENSP00000343589:K20N	K	-	3	2	PARK2	162314425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.098000	0.31000	0.312000	0.23038	0.529000	0.55759	AAA		PASS	0.413	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			5	19	5	19	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169637402	169637402	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr6:169637402G>T	ENST00000366787.3	-	10	1589	c.1340C>A	c.(1339-1341)tCt>tAt	p.S447Y	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	447	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S447Y(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGAGCATGAAGACCAAGGTGA	0.582																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1339-1341)TCT>TAT		thrombospondin 2 precursor							70.0	66.0	67.0					6																	169637402		2202	4299	6501	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637402G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1340C>A	6.37:g.169637402G>T	ENSP00000355751:p.Ser447Tyr						p.S447Y	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	10	1588	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	447			TSP type-1 2.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1340C>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	g	16.69	3.193216	0.58017	.	.	ENSG00000186340	ENST00000366787	T	0.64260	-0.09	3.94	3.94	0.45596	.	0.000000	0.40469	U	0.001083	T	0.81317	0.4797	M	0.93462	3.42	0.51767	D	0.999934	D	0.89917	1.0	D	0.79108	0.992	D	0.87413	0.2377	10	0.87932	D	0	-23.657	16.3391	0.83076	0.0:0.0:1.0:0.0	.	447	P35442	TSP2_HUMAN	Y	447	ENSP00000355751:S447Y	ENSP00000355751:S447Y	S	-	2	0	THBS2	169379327	1.000000	0.71417	0.961000	0.40146	0.219000	0.24729	9.129000	0.94430	1.912000	0.55364	0.457000	0.33378	TCT		PASS	0.582	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		10	8	10	8	---	---	---	---
CYP2W1	54905	broad.mit.edu	37	7	1024653	1024653	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:1024653C>A	ENST00000308919.7	+	3	418	c.405C>A	c.(403-405)agC>agA	p.S135R	CYP2W1_ENST00000340150.6_Missense_Mutation_p.S79R	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	135					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.S135R(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)		CCCTGCACAGCCTGGGCGTGG	0.662																																						uc003sjq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)AGC>AGA		cytochrome P450, family 2, subfamily W,							29.0	36.0	34.0					7																	1024653		2196	4298	6494	SO:0001583	missense	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.chr7:1024653C>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.405C>A	7.37:g.1024653C>A	ENSP00000310149:p.Ser135Arg					CYP2W1_uc003sjr.1_Missense_Mutation_p.S135R	p.S135R	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	418	+		Ovarian(82;0.0112)	135						Missense_Mutation	SNP	ENST00000308919.7	37	c.405C>A	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	7.533	0.658990	0.14645	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.70399	-0.48;-0.48	4.95	-2.53	0.06326	.	0.620688	0.18409	N	0.142115	T	0.49029	0.1533	L	0.31157	0.91	0.21355	N	0.999714	B;B	0.10296	0.003;0.003	B;B	0.15052	0.012;0.008	T	0.38001	-0.9681	10	0.87932	D	0	.	2.4927	0.04614	0.1172:0.328:0.3432:0.2117	.	79;135	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	R	135;79	ENSP00000310149:S135R;ENSP00000344178:S79R	ENSP00000310149:S135R	S	+	3	2	CYP2W1	991179	0.788000	0.28762	0.053000	0.19242	0.037000	0.13140	0.814000	0.27239	-0.111000	0.12001	-0.424000	0.05967	AGC		PASS	0.662	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		10	25	10	25	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72865210	72865210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:72865210C>A	ENST00000339594.4	-	14	3885	c.3547G>T	c.(3547-3549)Gaa>Taa	p.E1183*	BAZ1B_ENST00000404251.1_Nonsense_Mutation_p.E1183*	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1183					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.E1183*(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTAGCATTTTCTGCGGACATA	0.428																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(3547-3549)GAA>TAA		bromodomain adjacent to zinc finger domain, 1B							130.0	127.0	128.0					7																	72865210		2203	4300	6503	SO:0001587	stop_gained	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72865210C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3547G>T	7.37:g.72865210C>A	ENSP00000342434:p.Glu1183*						p.E1183*	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			14	3892	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1183					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Nonsense_Mutation	SNP	ENST00000339594.4	37	c.3547G>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	45	11.525449	0.99572	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-26.7578	19.2088	0.93746	0.0:1.0:0.0:0.0	.	.	.	.	X	1183	.	ENSP00000342434:E1183X	E	-	1	0	BAZ1B	72503146	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.176000	0.77643	2.790000	0.95986	0.591000	0.81541	GAA		PASS	0.428	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		15	70	15	70	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80387723	80387723	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:80387723C>T	ENST00000265361.3	-	15	2128	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	SEMA3C_ENST00000544525.1_Missense_Mutation_p.D541N|SEMA3C_ENST00000419255.2_Missense_Mutation_p.D523N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	523					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D523N(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGGCAGCAGTCAGCACAGGCT	0.517																																						uc003uhj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1567-1569)GAC>AAC		semaphorin 3C precursor							108.0	106.0	107.0					7																	80387723		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387723C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1567G>A	7.37:g.80387723C>T	ENSP00000265361:p.Asp523Asn					SEMA3C_uc011kgw.1_Missense_Mutation_p.D541N	p.D523N	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			15	2129	-			523					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1567G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617658	0.96649	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.24151	1.87;1.87;1.87	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67440	-0.5670	10	0.87932	D	0	.	19.6959	0.96026	0.0:1.0:0.0:0.0	.	541;523	F5H1Z7;Q99985	.;SEM3C_HUMAN	N	523;523;541	ENSP00000265361:D523N;ENSP00000411193:D523N;ENSP00000445649:D541N	ENSP00000265361:D523N	D	-	1	0	SEMA3C	80225659	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.744000	0.85034	2.729000	0.93468	0.467000	0.42956	GAC		PASS	0.517	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		15	63	15	63	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965180	88965180	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:88965180C>T	ENST00000333190.4	+	4	3493	c.2884C>T	c.(2884-2886)Cca>Tca	p.P962S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	962							metal ion binding (GO:0046872)	p.P962S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTCGCAAGTCCCATGCACAAT	0.388										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2884-2886)CCA>TCA		zinc finger protein 804B							113.0	115.0	114.0					7																	88965180		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965180C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2884C>T	7.37:g.88965180C>T	ENSP00000329638:p.Pro962Ser	HNSCC(36;0.09)					p.P962S	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3422	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		962					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2884C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	0.264	-0.997437	0.02145	.	.	ENSG00000182348	ENST00000333190	T	0.04706	3.57	5.34	2.46	0.29980	.	0.393600	0.24476	N	0.038181	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.47947	-0.9077	10	0.17369	T	0.5	-0.299	6.8861	0.24202	0.0:0.6677:0.1267:0.2056	.	962	A4D1E1	Z804B_HUMAN	S	962	ENSP00000329638:P962S	ENSP00000329638:P962S	P	+	1	0	ZNF804B	88803116	0.158000	0.22850	0.001000	0.08648	0.071000	0.16799	1.090000	0.30902	0.802000	0.34089	0.655000	0.94253	CCA		PASS	0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		13	88	13	88	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92731247	92731247	+	Silent	SNP	G	G	A	rs375558119		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:92731247G>A	ENST00000379958.2	-	3	4433	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1388						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.F1388F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGCCAAGATGAAATTTAGCT	0.358																																						uc003umf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(4162-4164)TTC>TTT		sterile alpha motif domain containing 9							129.0	132.0	131.0					7																	92731247		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92731247G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4164C>T	7.37:g.92731247G>A						SAMD9_uc003umg.2_Silent_p.F1388F	p.F1388F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4420	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1388					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.4164C>T	CCDS34680.1																																																																																				PASS	0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		6	117	6	117	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763333	110763333	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:110763333C>G	ENST00000422987.3	+	2	1336	c.505C>G	c.(505-507)Ctt>Gtt	p.L169V	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L169V|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.L169V|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	169					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L169V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTTCTTCGACTTCATCTCAA	0.368																																						uc003vft.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(505-507)CTT>GTT		leucine rich repeat neuronal 3 precursor							74.0	78.0	77.0					7																	110763333		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763333C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.505C>G	7.37:g.110763333C>G	ENSP00000412417:p.Leu169Val					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L169V|LRRN3_uc003vfs.3_Missense_Mutation_p.L169V	p.L169V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1551	+			169			Extracellular (Potential).|LRR 5.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.505C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748354	0.69533	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	6.16	6.16	0.99307	.	0.000000	0.52532	D	0.000069	D	0.92328	0.7566	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92508	0.6014	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	169	Q9H3W5	LRRN3_HUMAN	V	169	ENSP00000312001:L169V;ENSP00000397312:L169V;ENSP00000412417:L169V;ENSP00000407927:L169V	ENSP00000312001:L169V	L	+	1	0	LRRN3	110550569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.070000	0.71220	2.937000	0.99478	0.650000	0.86243	CTT		PASS	0.368	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		25	57	25	57	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111430539	111430539	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:111430539G>T	ENST00000437633.1	-	31	3545	c.3289C>A	c.(3289-3291)Cag>Aag	p.Q1097K	DOCK4_ENST00000428084.1_Missense_Mutation_p.Q1097K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1097					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.Q1085K(1)|p.Q1097K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTCCGCCTCTGCTCCCAGTCC	0.488																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(3289-3291)CAG>AAG		dedicator of cytokinesis 4							67.0	65.0	66.0					7																	111430539		1934	4138	6072	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111430539G>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3289C>A	7.37:g.111430539G>T	ENSP00000404179:p.Gln1097Lys					DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Missense_Mutation_p.Q538K|DOCK4_uc003vfy.2_Missense_Mutation_p.Q1133K	p.Q1097K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			31	3558	-		Acute lymphoblastic leukemia(1;0.0441)	1097			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3289C>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.929391|4.929391	0.92389|0.92389	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T|.	0.21543|.	2.0;2.0|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78110|0.78110	0.4232|0.4232	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.996;0.841|.	D;D;P|.	0.77557|.	0.99;0.936;0.69|.	T|T	0.77480|0.77480	-0.2572|-0.2572	10|5	0.44086|.	T|.	0.13|.	.|.	19.2125|19.2125	0.93763|0.93763	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1133;1097;1097|.	Q149N5;Q8N1I0;Q8N1I0-2|.	.;DOCK4_HUMAN;.|.	K|R	1085;1097;1097;1085|548;1120	ENSP00000410746:Q1097K;ENSP00000404179:Q1097K|.	ENSP00000345432:Q1085K|.	Q|S	-|-	1|3	0|2	DOCK4|DOCK4	111217775|111217775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.509000|7.509000	0.81698|0.81698	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAG|AGC		PASS	0.488	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		5	19	5	19	---	---	---	---
MET	4233	broad.mit.edu	37	7	116415134	116415134	+	Silent	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:116415134G>C	ENST00000318493.6	+	15	3469	c.3282G>C	c.(3280-3282)ctG>ctC	p.L1094L	MET_ENST00000539704.1_5'Flank|MET_ENST00000397752.3_Silent_p.L1076L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L1094L(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCAGTAGCCTGATTGTGCATT	0.428			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - coding silent(1)	p.Q1029_G1105del(1)	lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(3226-3228)CTG>CTC		met proto-oncogene isoform b precursor							161.0	157.0	158.0					7																	116415134		2024	4189	6213	SO:0001819	synonymous_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116415134G>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3282G>C	7.37:g.116415134G>C						MET_uc010lkh.2_Silent_p.L1094L|MET_uc011knj.1_Silent_p.L646L	p.L1076L	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		15	3415	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1076			Cytoplasmic (Potential).		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.3228G>C	CCDS47689.1																																																																																				PASS	0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	95	5	95	---	---	---	---
NAA38	84316	broad.mit.edu	37	7	117828398	117828398	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:117828398A>T	ENST00000249299.2	+	3	331	c.139A>T	c.(139-141)Agc>Tgc	p.S47C	NAA38_ENST00000424702.1_Missense_Mutation_p.S47C|NAA38_ENST00000422760.1_Missense_Mutation_p.S26C	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	89					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)		p.S47C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ACGAGTATTCAGCTCTTCACA	0.338																																						uc003vjg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)AGC>TGC		U6 snRNA-associated Sm-like protein LSm8							88.0	90.0	89.0					7																	117828398		2203	4300	6503	SO:0001583	missense	51691				nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	g.chr7:117828398A>T		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.139A>T	7.37:g.117828398A>T	ENSP00000249299:p.Ser47Cys						p.S47C	NM_016200	NP_057284	O95777	NAA38_HUMAN			3	331	+			47					Q8N4M0	Missense_Mutation	SNP	ENST00000249299.2	37	c.139A>T	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451147	0.84209	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.69	4.55	0.56014	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66356	-0.5944	9	0.72032	D	0.01	-18.6251	11.4471	0.50129	0.9298:0.0:0.0702:0.0	.	47	O95777	NAA38_HUMAN	C	47;47;26;58	ENSP00000249299:S47C;ENSP00000395263:S47C;ENSP00000403811:S26C;ENSP00000408267:S58C	ENSP00000249299:S47C	S	+	1	0	NAA38	117615634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.696000	0.91302	1.000000	0.39049	0.528000	0.53228	AGC		PASS	0.338	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		7	48	7	48	---	---	---	---
POT1	25913	broad.mit.edu	37	7	124493080	124493080	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:124493080C>A	ENST00000357628.3	-	10	1413	c.815G>T	c.(814-816)gGt>gTt	p.G272V	POT1_ENST00000393329.1_Missense_Mutation_p.G141V	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	272	DNA binding.				DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.G272V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GATTCCCCGACCGTAACTGGT	0.358																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(814-816)GGT>GTT		protection of telomeres 1 isoform 1							116.0	109.0	111.0					7																	124493080		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124493080C>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.815G>T	7.37:g.124493080C>A	ENSP00000350249:p.Gly272Val					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.G141V|POT1_uc003vln.2_RNA	p.G272V	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			10	1416	-			272			DNA binding.		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.815G>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557705	0.86231	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.60672	0.25;0.17	6.07	6.07	0.98685	Nucleic acid-binding, OB-fold-like (1);	0.047635	0.85682	D	0.000000	T	0.77605	0.4155	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76898	-0.2789	10	0.51188	T	0.08	3.5018	18.1532	0.89682	0.0:1.0:0.0:0.0	.	272	Q9NUX5	POTE1_HUMAN	V	272;141;272;272;272;271	ENSP00000350249:G272V;ENSP00000377002:G141V	ENSP00000265391:G271V	G	-	2	0	POT1	124280316	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.800000	0.62524	2.885000	0.99019	0.655000	0.94253	GGT		PASS	0.358	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			20	23	20	23	---	---	---	---
OPN1SW	611	broad.mit.edu	37	7	128415662	128415662	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:128415662G>T	ENST00000249389.2	-	1	182	c.183C>A	c.(181-183)cgC>cgA	p.R61R		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	61					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.R61R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACTTTTTGTAGCGCAGTGTGG	0.557																																						uc003vnt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)CGC>CGA		opsin 1 (cone pigments), short-wave-sensitive							110.0	116.0	114.0					7																	128415662		2203	4300	6503	SO:0001819	synonymous_variant	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415662G>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.183C>A	7.37:g.128415662G>T							p.R61R	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	183	-			61			Cytoplasmic (Potential).		Q13877	Silent	SNP	ENST00000249389.2	37	c.183C>A	CCDS5806.1																																																																																				PASS	0.557	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		11	59	11	59	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128492756	128492756	+	Missense_Mutation	SNP	C	C	T	rs200415625		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:128492756C>T	ENST00000325888.8	+	36	6215	c.5954C>T	c.(5953-5955)tCg>tTg	p.S1985L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1952L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1985					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.S1985L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTGCCCCCTCGGGCAACGAG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17902	0.0		0.001	False		,,,				2504	0.0					uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5953-5955)TCG>TTG		gamma filamin isoform a		C	LEU/SER,LEU/SER	0,4074		0,0,2037	39.0	44.0	42.0		5855,5954	6.0	0.8	7		42	7,8367		0,7,4180	yes	missense,missense	FLNC	NM_001127487.1,NM_001458.4	145,145	0,7,6217	TT,TC,CC		0.0836,0.0,0.0562	probably-damaging,probably-damaging	1952/2693,1985/2726	128492756	7,12441	2037	4187	6224	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492756C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5954C>T	7.37:g.128492756C>T	ENSP00000327145:p.Ser1985Leu					FLNC_uc003voa.3_Missense_Mutation_p.S1952L	p.S1985L	NM_001458	NP_001449	Q14315	FLNC_HUMAN			36	6163	+			1985			Filamin 18.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5954C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566254	0.96540	0.0	8.36E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.51325	0.71;0.71	5.97	5.97	0.96955	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.78672	0.4320	M	0.93763	3.455	0.58432	D	0.999998	P;D	0.89917	0.948;1.0	P;D	0.79784	0.643;0.993	T	0.83066	-0.0145	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	1952;1985	Q14315-2;Q14315	.;FLNC_HUMAN	L	1985;1952	ENSP00000327145:S1985L;ENSP00000344002:S1952L	ENSP00000327145:S1985L	S	+	2	0	FLNC	128279992	1.000000	0.71417	0.798000	0.32154	0.855000	0.48748	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TCG		PASS	0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			26	44	26	44	---	---	---	---
KLHDC10	23008	broad.mit.edu	37	7	129736794	129736794	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:129736794G>T	ENST00000335420.5	+	2	334	c.200G>T	c.(199-201)aGg>aTg	p.R67M		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	67						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R67M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CCAGTTAGGAGGCGCTTCATT	0.413																																						uc003vpj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)AGG>ATG		kelch domain containing 10							158.0	161.0	160.0					7																	129736794		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129736794G>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.200G>T	7.37:g.129736794G>T	ENSP00000334140:p.Arg67Met					KLHDC10_uc003vpk.1_Intron|KLHDC10_uc010lmb.1_Intron	p.R67M	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			2	335	+			67					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.200G>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114432	0.77210	.	.	ENSG00000128607	ENST00000335420	T	0.06068	3.35	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	N	0.24115	0.695	0.58432	D	0.999991	D	0.61697	0.99	D	0.69142	0.962	T	0.13548	-1.0505	10	0.33940	T	0.23	-17.7052	15.8749	0.79154	0.0:0.0:1.0:0.0	.	67	Q6PID8	KLD10_HUMAN	M	67	ENSP00000334140:R67M	ENSP00000334140:R67M	R	+	2	0	KLHDC10	129524030	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.120000	0.71596	2.693000	0.91896	0.491000	0.48974	AGG		PASS	0.413	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			23	15	23	15	---	---	---	---
PTN	5764	broad.mit.edu	37	7	136938369	136938369	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:136938369T>G	ENST00000348225.2	-	3	558	c.131A>C	c.(130-132)aAg>aCg	p.K44T	PTN_ENST00000393083.2_Missense_Mutation_p.K44T	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	44					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.K44M(1)|p.K44T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						ACAGTCAGACTTCTTCACTTT	0.478																																						uc003vtq.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(130-132)AAG>ACG		pleiotrophin							55.0	53.0	54.0					7																	136938369		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938369T>G	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.131A>C	7.37:g.136938369T>G	ENSP00000341170:p.Lys44Thr					PTN_uc010lmx.2_Missense_Mutation_p.K44T|PTN_uc003vtr.1_Missense_Mutation_p.K44T	p.K44T	NM_002825	NP_002816	P21246	PTN_HUMAN			3	494	-			44					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.131A>C	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.556263	0.65425	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.66	5.66	0.87406	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.437392	0.26485	N	0.024117	T	0.60932	0.2307	L	0.32530	0.975	0.42909	D	0.99425	D;P	0.57257	0.979;0.948	P;P	0.55508	0.777;0.61	T	0.60444	-0.7262	9	0.37606	T	0.19	-15.5865	15.8997	0.79362	0.0:0.0:0.0:1.0	.	44;44	C9JR52;P21246	.;PTN_HUMAN	T	44	.	ENSP00000341170:K44T	K	-	2	0	PTN	136588909	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.309000	0.51903	2.157000	0.67596	0.482000	0.46254	AAG		PASS	0.478	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		8	18	8	18	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138546004	138546004	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:138546004C>T	ENST00000422774.1	-	16	5176	c.5128G>A	c.(5128-5130)Gta>Ata	p.V1710I	KIAA1549_ENST00000440172.1_Missense_Mutation_p.V1710I|KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1660I			Q9HCM3	K1549_HUMAN	KIAA1549	1710						integral component of membrane (GO:0016021)		p.V1710I(1)|p.V1660I(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGGCCTACACCTGCGGTG	0.697			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(5128-5130)GTA>ATA		hypothetical protein LOC57670 isoform 1							34.0	42.0	39.0					7																	138546004		2034	4172	6206	SO:0001583	missense	57670					integral to membrane		g.chr7:138546004C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5128G>A	7.37:g.138546004C>T	ENSP00000416040:p.Val1710Ile					KIAA1549_uc011kqi.1_Missense_Mutation_p.V494I|KIAA1549_uc003vuk.3_Missense_Mutation_p.V1660I|KIAA1549_uc011kqj.1_Missense_Mutation_p.V1710I|KIAA1549_uc011kqk.1_Missense_Mutation_p.V494I	p.V1710I	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			16	5177	-			1710					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5128G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	4.082	0.013129	0.07912	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22134	1.97;1.98;1.97	4.49	0.0432	0.14221	.	0.410669	0.28853	N	0.013926	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B;B;B;B	0.19200	0.02;0.01;0.034;0.01	B;B;B;B	0.24394	0.024;0.013;0.053;0.013	T	0.35500	-0.9786	10	0.21014	T	0.42	.	9.0594	0.36425	0.0:0.5065:0.4096:0.0839	.	1710;494;1710;494	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	I	1710;1660;1710	ENSP00000406661:V1710I;ENSP00000242365:V1660I;ENSP00000416040:V1710I	ENSP00000242365:V1660I	V	-	1	0	KIAA1549	138196544	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	-0.130000	0.10498	-0.095000	0.12351	0.563000	0.77884	GTA		PASS	0.697	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			15	35	15	35	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140481403	140481403	+	Missense_Mutation	SNP	C	C	T	rs121913358|rs397516890|rs121913357		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:140481403C>T	ENST00000288602.6	-	11	1465	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469R(6)|p.G469S(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TAGACTGTTCCAAATGATCCA	0.373		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	11	Substitution - Missense(11)	p.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5)	skin(6)|NS(2)|thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1405-1407)GGA>AGA		B-Raf	Sorafenib(DB00398)						173.0	148.0	157.0					7																	140481403		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481403C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1405G>A	7.37:g.140481403C>T	ENSP00000288602:p.Gly469Arg						p.G469R	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1466	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1405G>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335692	0.95758	.	.	ENSG00000157764	ENST00000288602	D	0.90385	-2.66	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	H	0.98446	4.235	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.98797	1.0738	10	0.87932	D	0	.	17.8428	0.88720	0.0:1.0:0.0:0.0	.	469	P15056	BRAF_HUMAN	R	469	ENSP00000288602:G469R	ENSP00000288602:G469R	G	-	1	0	BRAF	140127872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.637000	0.89404	0.585000	0.79938	GGA		PASS	0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	82	14	82	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141754598	141754598	+	Silent	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:141754598G>C	ENST00000549489.2	+	27	3299	c.3204G>C	c.(3202-3204)ctG>ctC	p.L1068L	MGAM_ENST00000475668.2_Silent_p.L1068L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1068	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L1068L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGTCCCTCTGAACATACCCA	0.438																																						uc003vwy.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(3202-3204)CTG>CTC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						158.0	149.0	152.0					7																	141754598		1901	4115	6016	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141754598G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3204G>C	7.37:g.141754598G>C							p.L1068L	NM_004668	NP_004659	O43451	MGA_HUMAN			27	3258	+	Melanoma(164;0.0272)		1068			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3204G>C	CCDS47727.1																																																																																				PASS	0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			25	105	25	105	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146536824	146536824	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:146536824C>G	ENST00000361727.3	+	3	746	c.230C>G	c.(229-231)tCa>tGa	p.S77*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	77	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.S77*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGTCTCCATCAGACAGCGAC	0.443										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(229-231)TCA>TGA		cell recognition molecule Caspr2 precursor							80.0	70.0	73.0					7																	146536824		2203	4300	6503	SO:0001587	stop_gained	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536824C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.230C>G	7.37:g.146536824C>G	ENSP00000354778:p.Ser77*	HNSCC(39;0.1)					p.S77*	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	746	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	77			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.230C>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	42	9.291632	0.99127	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.83	4.9	0.64082	.	0.172753	0.29522	N	0.011915	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0865	0.30775	0.1594:0.7609:0.0:0.0796	.	.	.	.	X	77	.	ENSP00000354778:S77X	S	+	2	0	CNTNAP2	146167757	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	3.815000	0.55651	2.760000	0.94817	0.650000	0.86243	TCA		PASS	0.443	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			3	63	3	63	---	---	---	---
ASB10	136371	broad.mit.edu	37	7	150873367	150873367	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:150873367G>A	ENST00000420175.2	-	5	1260	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	ASB10_ENST00000434669.1_Silent_p.Y419Y|ASB10_ENST00000422024.1_Silent_p.Y457Y|ASB10_ENST00000275838.1_Silent_p.Y374Y|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000377867.3_Silent_p.Y397Y			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	412	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y374Y(1)|p.Y412Y(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGGAGGAGTAGAAACGCT	0.647																																						uc003wjm.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1369-1371)TAC>TAT		ankyrin repeat and SOCS box-containing 10							21.0	21.0	21.0					7																	150873367		2154	4215	6369	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150873367G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1236C>T	7.37:g.150873367G>A						ASB10_uc003wjl.1_Silent_p.Y419Y|ASB10_uc003wjn.1_Silent_p.Y397Y	p.Y457Y	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1497	-			412			SOCS box.		A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.1371C>T	CCDS47750.2																																																																																				PASS	0.647	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		6	19	6	19	---	---	---	---
ESYT2	57488	broad.mit.edu	37	7	158590750	158590750	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr7:158590750C>A	ENST00000251527.5	-	3	599	c.534G>T	c.(532-534)tgG>tgT	p.W178C	ESYT2_ENST00000497111.1_5'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	206					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.W178C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AAATGAAAGGCCACATGTGTT	0.428																																						uc003wob.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(532-534)TGG>TGT		family with sequence similarity 62 (C2 domain							66.0	67.0	67.0					7																	158590750		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158590750C>A	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.534G>T	7.37:g.158590750C>A	ENSP00000251527:p.Trp178Cys					ESYT2_uc003woc.1_Missense_Mutation_p.W2C|ESYT2_uc003wod.1_Missense_Mutation_p.W178C	p.W178C	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			3	600	-			206					A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.534G>T	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186764	0.78789	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	D;D	0.95656	-3.77;-3.77	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99004	1.0812	10	0.87932	D	0	-3.1595	17.7891	0.88547	0.0:1.0:0.0:0.0	.	206;178	A0FGR8-6;A0FGR8-2	.;.	C	178;206;148;2	ENSP00000251527:W178C;ENSP00000275418:W148C	ENSP00000251527:W178C	W	-	3	0	ESYT2	158283511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.157000	0.77461	2.515000	0.84797	0.484000	0.47621	TGG		PASS	0.428	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		9	25	9	25	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32621848	32621848	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:32621848C>A	ENST00000405005.3	+	12	1851	c.1851C>A	c.(1849-1851)cgC>cgA	p.R617R	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Silent_p.R588R|NRG1_ENST00000287842.3_Silent_p.R614R|NRG1_ENST00000338921.4_Silent_p.R625R|NRG1_ENST00000356819.4_Silent_p.R622R|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Silent_p.R460R|NRG1_ENST00000519301.1_Silent_p.R567R			Q02297	NRG1_HUMAN	neuregulin 1	617					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R622R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGCAGGCCGCTTCTCGACAC	0.512																																						uc003xiv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1849-1851)CGC>CGA		neuregulin 1 isoform HRG-alpha							40.0	45.0	43.0					8																	32621848		2202	4300	6502	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621848C>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1851C>A	8.37:g.32621848C>A						NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.R622R|NRG1_uc003xiw.2_Silent_p.R614R|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.R359R|NRG1_uc010lvs.2_Silent_p.R359R|NRG1_uc010lvp.2_Silent_p.R571R|NRG1_uc010lvq.2_Silent_p.R554R|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.R460R|NRG1_uc003xja.2_Silent_p.R428R	p.R617R	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	2368	+		Breast(100;0.203)	617			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.1851C>A	CCDS6085.1																																																																																				PASS	0.512	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			5	20	5	20	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42623538	42623538	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:42623538C>A	ENST00000276410.2	-	1	391	c.36G>T	c.(34-36)ggG>ggT	p.G12G	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Silent_p.G12G	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	12					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.G12G(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GACACAAGCCCCCATGAAGGA	0.423																																						uc003xpj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)GGG>GGT		cholinergic receptor, nicotinic, alpha 6							160.0	143.0	149.0					8																	42623538		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42623538C>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.36G>T	8.37:g.42623538C>A						CHRNA6_uc011lcw.1_Silent_p.G12G	p.G12G	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		1	82	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	12					B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.36G>T	CCDS6135.1																																																																																				PASS	0.423	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			15	19	15	19	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43155726	43155726	+	RNA	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:43155726C>A	ENST00000522175.2	+	0	656				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.I218I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTTTTAATCAAGAAAAAAG	0.333																																						uc003xpz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)ATC>ATA		POTE ankyrin domain family, member A isoform 2							68.0	72.0	71.0					8																	43155726		2185	4293	6478			340441							g.chr8:43155726C>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43155726C>A						POTEA_uc003xqa.1_Silent_p.I218I	p.I218I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			4	697	+			218			ANK 4.		A6ND17|A6ND71|Q6S8J6	Silent	SNP	ENST00000522175.2	37	c.654C>A																																																																																					PASS	0.333	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		4	37	4	37	---	---	---	---
UBE2V2	7336	broad.mit.edu	37	8	48955617	48955617	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:48955617G>T	ENST00000523111.2	+	2	96	c.41G>T	c.(40-42)cGc>cTc	p.R14L	UBE2V2_ENST00000520809.1_5'UTR|UBE2V2_ENST00000521346.1_5'UTR|UBE2V2_ENST00000517630.1_5'UTR	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	14					cell proliferation (GO:0008283)|DNA double-strand break processing (GO:0000729)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of DNA repair (GO:0045739)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of synapse assembly (GO:0051965)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of DNA repair (GO:0006282)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|UBC13-MMS2 complex (GO:0031372)	acid-amino acid ligase activity (GO:0016881)	p.R14L(1)		large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				CGTAATTTTCGCTTGTTGGAA	0.373								Rad6 pathway																														uc003xqm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)CGC>CTC	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2v2							109.0	106.0	107.0					8																	48955617		1878	4106	5984	SO:0001583	missense	7336				cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding	g.chr8:48955617G>T	X98091	CCDS43738.1	8q11.21	2008-02-05			ENSG00000169139	ENSG00000169139		"""Ubiquitin-conjugating enzymes E2"""	12495	protein-coding gene	gene with protein product		603001				9418904, 9199207	Standard	NM_003350		Approved	UEV-2, DDVit-1, EDPF-1, MMS2	uc003xqm.3	Q15819	OTTHUMG00000164206	ENST00000523111.2:c.41G>T	8.37:g.48955617G>T	ENSP00000428209:p.Arg14Leu						p.R14L	NM_003350	NP_003341	Q15819	UB2V2_HUMAN			2	62	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)	14						Missense_Mutation	SNP	ENST00000523111.2	37	c.41G>T	CCDS43738.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154785	0.78114	.	.	ENSG00000169139	ENST00000523111	T	0.31247	1.5	5.4	4.53	0.55603	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.046010	0.85682	D	0.000000	T	0.55593	0.1930	M	0.90814	3.15	0.80722	D	1	B	0.29627	0.252	P	0.45538	0.484	T	0.63079	-0.6717	10	0.87932	D	0	-12.7185	14.5453	0.68027	0.0709:0.0:0.9291:0.0	.	14	Q15819	UB2V2_HUMAN	L	14	ENSP00000428209:R14L	ENSP00000428209:R14L	R	+	2	0	UBE2V2	49118170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.850000	0.86915	1.422000	0.47177	0.655000	0.94253	CGC		PASS	0.373	UBE2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377808.3	NM_003350		18	49	18	49	---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832788	49832788	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:49832788C>A	ENST00000396822.1	-	3	649	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	SNAI2_ENST00000020945.1_Missense_Mutation_p.D98Y			O43623	SNAI2_HUMAN	snail family zinc finger 2	98					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.D98Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCACTGTGGTCCTTGGAGGAG	0.527																																						uc003xqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(292-294)GAC>TAC		snail 2							120.0	118.0	119.0					8																	49832788		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832788C>A	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.292G>T	8.37:g.49832788C>A	ENSP00000380034:p.Asp98Tyr						p.D98Y	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	456	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	98					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.292G>T	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106202	0.77096	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.12774	2.65;2.65	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	N	0.19112	0.55	0.80722	D	1	P	0.45902	0.868	B	0.34038	0.174	T	0.15867	-1.0422	10	0.02654	T	1	-21.9696	19.2397	0.93877	0.0:1.0:0.0:0.0	.	98	O43623	SNAI2_HUMAN	Y	98	ENSP00000020945:D98Y;ENSP00000380034:D98Y	ENSP00000020945:D98Y	D	-	1	0	SNAI2	49995341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.387000	0.66243	2.550000	0.86006	0.561000	0.74099	GAC		PASS	0.527	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		47	116	47	116	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52322064	52322064	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:52322064G>T	ENST00000356297.4	-	17	2220	c.2120C>A	c.(2119-2121)tCt>tAt	p.S707Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.S707Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	707					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S707Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTGCATCCAGATAAATTGGC	0.617																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2119-2121)TCT>TAT		peroxidasin homolog-like precursor							31.0	36.0	34.0					8																	52322064		2128	4243	6371	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52322064G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2120C>A	8.37:g.52322064G>T	ENSP00000348645:p.Ser707Tyr					PXDNL_uc003xqt.3_RNA	p.S707Y	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2221	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	707					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2120C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414940	0.42817	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68624	-0.34;-0.34	3.72	2.83	0.33086	.	.	.	.	.	T	0.80649	0.4663	M	0.85945	2.785	0.39060	D	0.960507	D	0.89917	1.0	D	0.91635	0.999	T	0.81093	-0.1089	8	.	.	.	.	8.8697	0.35309	0.1172:0.0:0.8828:0.0	.	707	A1KZ92	PXDNL_HUMAN	Y	707	ENSP00000348645:S707Y;ENSP00000444865:S707Y	.	S	-	2	0	PXDNL	52484617	1.000000	0.71417	0.077000	0.20336	0.271000	0.26615	8.352000	0.90075	0.664000	0.31047	0.561000	0.74099	TCT		PASS	0.617	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		14	23	14	23	---	---	---	---
IL7	3574	broad.mit.edu	37	8	79650857	79650857	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:79650857A>T	ENST00000263851.4	-	4	842	c.242T>A	c.(241-243)tTa>tAa	p.L81*	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Intron|IL7_ENST00000541183.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	81					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)	p.L81*(1)		endometrium(2)|large_intestine(2)|lung(1)	5						AGCACGGAATAAAAACATACC	0.353																																						uc003ybg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(241-243)TTA>TAA		interleukin 7 precursor							57.0	60.0	59.0					8																	79650857		2203	4300	6503	SO:0001587	stop_gained	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79650857A>T	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.242T>A	8.37:g.79650857A>T	ENSP00000263851:p.Leu81*					IL7_uc003ybe.2_Intron|IL7_uc011lfm.1_Intron|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA	p.L81*	NM_000880	NP_000871	P13232	IL7_HUMAN			4	843	-			81					A0N0L3|Q5FBY5|Q5FBY9	Nonsense_Mutation	SNP	ENST00000263851.4	37	c.242T>A	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	A	41	9.161331	0.99085	.	.	ENSG00000104432	ENST00000263851	.	.	.	5.03	3.85	0.44370	.	0.280180	0.25616	N	0.029453	.	.	.	.	.	.	0.31632	N	0.648904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9829	0.30194	0.8052:0.0:0.0:0.1948	.	.	.	.	X	81	.	.	L	-	2	0	IL7	79813412	0.891000	0.30450	0.473000	0.27253	0.862000	0.49288	2.375000	0.44283	1.016000	0.39470	0.533000	0.62120	TTA		PASS	0.353	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			12	55	12	55	---	---	---	---
STMN2	11075	broad.mit.edu	37	8	80577099	80577099	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:80577099T>A	ENST00000220876.7	+	5	912	c.530T>A	c.(529-531)cTg>cAg	p.L177Q	STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Missense_Mutation_p.L166Q	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	177	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)	p.L177Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CAGGTTGAACTGTCTGGCTGA	0.493																																						uc003ybj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(529-531)CTG>CAG		superiorcervical ganglia, neural specific 10							88.0	92.0	91.0					8																	80577099		1959	4136	6095	SO:0001583	missense	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80577099T>A		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.530T>A	8.37:g.80577099T>A	ENSP00000220876:p.Leu177Gln					STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron|STMN2_uc003ybk.2_RNA	p.L177Q	NM_007029	NP_008960	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		5	581	+	all_lung(9;8.34e-05)		177			Potential.		A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	37	c.530T>A	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.442737	0.63067	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518491	.	.	.	5.25	5.25	0.73442	.	0.380247	0.27509	N	0.019054	T	0.74283	0.3696	L	0.57536	1.79	0.58432	D	0.999994	D	0.63046	0.992	D	0.64144	0.922	T	0.76955	-0.2767	9	0.66056	D	0.02	-3.257	15.1471	0.72662	0.0:0.0:0.0:1.0	.	177	Q93045	STMN2_HUMAN	Q	177;166;166	.	ENSP00000220876:L177Q	L	+	2	0	STMN2	80739654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	1.987000	0.57996	0.533000	0.62120	CTG		PASS	0.493	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		8	16	8	16	---	---	---	---
FABP12	646486	broad.mit.edu	37	8	82441723	82441723	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:82441723T>A	ENST00000360464.4	-	2	258	c.196A>T	c.(196-198)Aag>Tag	p.K66*	RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	66							lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.K66*(2)		large_intestine(1)|lung(3)	4						TCTCCCAGCTTAAAGGAGATC	0.423																																						uc011lfp.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(196-198)AAG>TAG		fatty acid binding protein 12							147.0	142.0	144.0					8																	82441723		1860	4096	5956	SO:0001587	stop_gained	646486						lipid binding|transporter activity	g.chr8:82441723T>A		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.196A>T	8.37:g.82441723T>A	ENSP00000353650:p.Lys66*					FABP12_uc003ycg.3_RNA	p.K66*	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN			2	196	-			66					B7SUN0	Nonsense_Mutation	SNP	ENST00000360464.4	37	c.196A>T	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	T	34	5.409208	0.96072	.	.	ENSG00000197416	ENST00000360464	.	.	.	4.96	4.96	0.65561	.	0.052476	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7854	0.69800	0.0:0.0:0.0:1.0	.	.	.	.	X	66	.	ENSP00000353650:K66X	K	-	1	0	FABP12	82604278	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.837000	0.86796	2.070000	0.61991	0.533000	0.62120	AAG		PASS	0.423	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281		23	136	23	136	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99962918	99962918	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:99962918C>A	ENST00000297565.4	+	3	1187	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	OSR2_ENST00000435298.2_Missense_Mutation_p.Q231K|OSR2_ENST00000523368.1_Missense_Mutation_p.Q231K|OSR2_ENST00000522510.1_Missense_Mutation_p.Q231K|OSR2_ENST00000457907.2_Missense_Mutation_p.Q352K	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	231					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.Q231K(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)			CTTCAAATGTCAGGAGTGTGG	0.358																																						uc003yir.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(691-693)CAG>AAG		odd-skipped related 2 isoform a							75.0	72.0	73.0					8																	99962918		1851	4086	5937	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.chr8:99962918C>A	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.691C>A	8.37:g.99962918C>A	ENSP00000297565:p.Gln231Lys					OSR2_uc010mbn.2_Missense_Mutation_p.Q231K|OSR2_uc003yiq.2_Missense_Mutation_p.Q231K|OSR2_uc011lgx.1_Missense_Mutation_p.Q352K	p.Q231K	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		3	1226	+	Breast(36;4.14e-07)		231			C2H2-type 3.		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.691C>A	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669587	0.47677	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907	T;T;T;T;T	0.15718	3.29;3.29;2.4;3.29;3.29	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	N	0.04746	-0.17	0.80722	D	1	B;B;B;B	0.30236	0.047;0.274;0.137;0.022	B;B;B;B	0.34346	0.089;0.18;0.18;0.035	T	0.30621	-0.9972	9	.	.	.	-18.013	19.3429	0.94350	0.0:1.0:0.0:0.0	.	352;231;231;231	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	K	231;231;231;231;352	ENSP00000430041:Q231K;ENSP00000297565:Q231K;ENSP00000402862:Q231K;ENSP00000430780:Q231K;ENSP00000414657:Q352K	.	Q	+	1	0	OSR2	100032094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.795000	0.96236	0.655000	0.94253	CAG		PASS	0.358	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		7	18	7	18	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99963890	99963890	+	Silent	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:99963890G>C	ENST00000297565.4	+	4	1396	c.900G>C	c.(898-900)cgG>cgC	p.R300R	OSR2_ENST00000435298.2_Missense_Mutation_p.G273A|OSR2_ENST00000522510.1_Silent_p.R300R|OSR2_ENST00000457907.2_Silent_p.R421R	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	300					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.R300R(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)			GTGATCTGCGGCGGCACAGCC	0.587																																						uc003yir.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(898-900)CGG>CGC		odd-skipped related 2 isoform a							41.0	44.0	43.0					8																	99963890		2012	4183	6195	SO:0001819	synonymous_variant	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.chr8:99963890G>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.900G>C	8.37:g.99963890G>C						OSR2_uc003yiq.2_Missense_Mutation_p.G273A|OSR2_uc011lgx.1_Silent_p.R421R	p.R300R	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		4	1435	+	Breast(36;4.14e-07)		300			C2H2-type 5; degenerate.		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	c.900G>C	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894264	0.52121	.	.	ENSG00000164920	ENST00000435298	T	0.05382	3.45	5.32	5.32	0.75619	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.80722	D	1	P	0.43094	0.799	B	0.41723	0.365	T	0.20638	-1.0269	7	.	.	.	-10.2654	19.1997	0.93707	0.0:0.0:1.0:0.0	.	273	Q8N2R0-2	.	A	273	ENSP00000402862:G273A	.	G	+	2	0	OSR2	100033066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	2.753000	0.94483	0.655000	0.94253	GGC		PASS	0.587	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		5	12	5	12	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106811149	106811149	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:106811149C>A	ENST00000407775.2	+	7	1187	c.937C>A	c.(937-939)Cta>Ata	p.L313I	ZFPM2_ENST00000517361.1_Missense_Mutation_p.L181I|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L44I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L181I|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	313					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.L313I(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)			TGCTCGAGCTCTAGAAATGCA	0.438																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(937-939)CTA>ATA		zinc finger protein, multitype 2							102.0	101.0	101.0					8																	106811149		1928	4154	6082	SO:0001583	missense	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.chr8:106811149C>A	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.937C>A	8.37:g.106811149C>A	ENSP00000384179:p.Leu313Ile					ZFPM2_uc011lhs.1_Missense_Mutation_p.L44I|uc003yme.1_5'Flank	p.L313I	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	960	+			313			C2H2-type 1.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.937C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423776	0.83667	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.80982	2.52	0.58432	D	0.999994	D	0.76494	0.999	D	0.87578	0.998	D	0.88596	0.3146	10	0.72032	D	0.01	.	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	313	Q8WW38	FOG2_HUMAN	I	313;181;181;44	ENSP00000384179:L313I;ENSP00000430757:L181I;ENSP00000428720:L181I;ENSP00000367733:L44I	ENSP00000367733:L44I	L	+	1	2	ZFPM2	106880325	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	3.798000	0.55522	2.880000	0.98712	0.650000	0.86243	CTA		PASS	0.438	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			41	111	41	111	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814663	106814663	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:106814663C>A	ENST00000407775.2	+	8	2603	c.2353C>A	c.(2353-2355)Cac>Aac	p.H785N	ZFPM2_ENST00000517361.1_Missense_Mutation_p.H653N|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H516N|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H653N|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	785					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.H785N(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)			AGAGTGCTACCACCCAAGATG	0.448																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(2353-2355)CAC>AAC		zinc finger protein, multitype 2							67.0	66.0	66.0					8																	106814663		1915	4124	6039	SO:0001583	missense	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.chr8:106814663C>A	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.2353C>A	8.37:g.106814663C>A	ENSP00000384179:p.His785Asn					ZFPM2_uc011lhs.1_Missense_Mutation_p.H516N	p.H785N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2376	+			785					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2353C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946181	0.73672	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.22743	1.94;2.44;2.44;3.64	5.72	5.72	0.89469	.	0.047864	0.85682	D	0.000000	T	0.33498	0.0865	L	0.54323	1.7	0.80722	D	1	D	0.59767	0.986	P	0.52481	0.7	T	0.01386	-1.1368	10	0.17832	T	0.49	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	785	Q8WW38	FOG2_HUMAN	N	785;653;653;516	ENSP00000384179:H785N;ENSP00000430757:H653N;ENSP00000428720:H653N;ENSP00000367733:H516N	ENSP00000367733:H516N	H	+	1	0	ZFPM2	106883839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	CAC		PASS	0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	35	7	35	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113697955	113697955	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:113697955C>T	ENST00000297405.5	-	15	2406	c.2162G>A	c.(2161-2163)tGc>tAc	p.C721Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.C617Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.C681Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.C721Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	721	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C681Y(1)|p.C721Y(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						GTTAGACAGGCAGGGAACTGG	0.313										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.(2161-2163)TGC>TAC		CUB and Sushi multiple domains 3 isoform 1							60.0	65.0	63.0					8																	113697955		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697955C>T	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.2162G>A	8.37:g.113697955C>T	ENSP00000297405:p.Cys721Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.C681Y|CSMD3_uc011lhx.1_Missense_Mutation_p.C617Y	p.C721Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2321	-			721			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2162G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272694	0.80580	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.72	5.72	0.89469	Complement control module (1);CUB (5);	0.000000	0.85682	D	0.000000	D	0.88683	0.6503	H	0.98996	4.395	0.58432	D	0.999994	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.91635	0.999;0.999;0.998	D	0.92817	0.6269	10	0.87932	D	0	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	617;721;681	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	681;721;61;617;721	ENSP00000345799:C681Y;ENSP00000297405:C721Y;ENSP00000341558:C61Y;ENSP00000412263:C617Y;ENSP00000343124:C721Y	ENSP00000297405:C721Y	C	-	2	0	CSMD3	113767131	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	TGC		PASS	0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	62	19	62	---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125565595	125565595	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:125565595C>T	ENST00000518547.1	-	14	2379	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	MTSS1_ENST00000431961.2_Missense_Mutation_p.G354R|MTSS1_ENST00000524090.1_Missense_Mutation_p.G526R|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.G640R|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.G354R|MTSS1_ENST00000378017.3_Missense_Mutation_p.G611R|MTSS1_ENST00000395508.2_Missense_Mutation_p.G410R	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	636	Pro-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.G636R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTCTGGCCCATCTGGAGGG	0.642																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1906-1908)GGG>AGG		metastasis suppressor 1							46.0	48.0	47.0					8																	125565595		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125565595C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1906G>A	8.37:g.125565595C>T	ENSP00000429064:p.Gly636Arg					NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G285R|MTSS1_uc011lin.1_Missense_Mutation_p.G410R|MTSS1_uc011lio.1_Missense_Mutation_p.G526R|MTSS1_uc003yri.2_Missense_Mutation_p.G354R|MTSS1_uc003yrj.2_Missense_Mutation_p.G611R|MTSS1_uc003yrl.2_Missense_Mutation_p.G640R	p.G636R	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		14	2440	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		636			Pro-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.1906G>A	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.248231|4.248231	0.80024|0.80024	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090|ENST00000519168	T;T;T;T;T;T;T|.	0.38077|.	1.24;1.16;1.19;1.19;1.16;1.19;1.18|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.068304|.	0.64402|.	D|.	0.000014|.	T|.	0.71643|.	0.3364|.	L|L	0.52573|0.52573	1.65|1.65	0.43852|0.43852	D|D	0.996448|0.996448	P;D;D;D;D;D;D|.	0.89917|.	0.653;0.995;1.0;0.999;0.999;0.996;0.994|.	B;P;D;D;D;D;P|.	0.75020|.	0.286;0.88;0.985;0.957;0.966;0.931;0.88|.	T|.	0.66208|.	-0.5981|.	10|.	0.48119|.	T|.	0.1|.	-24.7028|-24.7028	20.2664|20.2664	0.98460|0.98460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	526;410;611;636;611;354;285|.	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0|.	.;.;.;MTSS1_HUMAN;.;.;.|.	R|X	611;636;354;410;640;354;526|423	ENSP00000367256:G611R;ENSP00000429064:G636R;ENSP00000346119:G354R;ENSP00000378884:G410R;ENSP00000322804:G640R;ENSP00000393606:G354R;ENSP00000428319:G526R|.	ENSP00000322804:G640R|.	G|W	-|-	1|2	0|0	MTSS1|MTSS1	125634776|125634776	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.151000|2.151000	0.42263|0.42263	2.786000|2.786000	0.95864|0.95864	0.561000|0.561000	0.74099|0.74099	GGG|TGG		PASS	0.642	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		10	37	10	37	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139611078	139611078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:139611078C>A	ENST00000303045.6	-	61	4695	c.4249G>T	c.(4249-4251)Gga>Tga	p.G1417*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1397*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1417	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1417*(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGGATTCCAGGGTCCCCA	0.602										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4249-4251)GGA>TGA		collagen, type XXII, alpha 1							59.0	57.0	57.0					8																	139611078		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611078C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4249G>T	8.37:g.139611078C>A	ENSP00000303153:p.Gly1417*	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Nonsense_Mutation_p.G697*	p.G1417*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4696	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1417			Pro-rich.|Gly-rich.|Collagen-like 14.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.4249G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	48	14.171356	0.99783	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.61	5.61	0.85477	.	0.000000	0.44483	U	0.000451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6375	0.91384	0.0:1.0:0.0:0.0	.	.	.	.	X	1417;1397;1110	.	ENSP00000303153:G1417X	G	-	1	0	COL22A1	139680260	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.487000	0.81328	2.638000	0.89438	0.650000	0.86243	GGA		PASS	0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		16	44	16	44	---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142231724	142231724	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:142231724C>A	ENST00000024061.3	-	2	536	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F	SLC45A4_ENST00000433583.2_Missense_Mutation_p.V70F|SLC45A4_ENST00000519067.1_Missense_Mutation_p.V77F|SLC45A4_ENST00000517878.1_Missense_Mutation_p.V128F	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.V77F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGACGCCAACGCAGAGGGCG	0.622																																						uc003ywd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(229-231)GTT>TTT		solute carrier family 45, member 4							74.0	81.0	79.0					8																	142231724		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142231724C>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.229G>T	8.37:g.142231724C>A	ENSP00000024061:p.Val77Phe					SLC45A4_uc003ywc.1_Missense_Mutation_p.V77F|SLC45A4_uc010meq.1_Missense_Mutation_p.V75F	p.V77F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	537	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		128			Helical; (Potential).		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.229G>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	c	10.39	1.338304	0.24253	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000519986	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.46	3.47	0.39725	.	0.559738	0.19402	N	0.115158	D	0.93083	0.7798	L	0.38531	1.155	0.32002	N	0.603257	D;D;B	0.71674	0.998;0.99;0.193	D;D;B	0.72625	0.978;0.935;0.168	D	0.90643	0.4576	10	0.54805	T	0.06	-25.5655	5.6953	0.17853	0.0:0.4872:0.0:0.5128	.	128;77;77	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	F	77;128;70;77;59	ENSP00000429059:V77F;ENSP00000428137:V128F;ENSP00000400799:V70F;ENSP00000024061:V77F;ENSP00000429974:V59F	ENSP00000024061:V77F	V	-	1	0	SLC45A4	142300906	0.997000	0.39634	0.030000	0.17652	0.143000	0.21401	0.622000	0.24433	0.577000	0.29470	-0.355000	0.07637	GTT		PASS	0.622	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		15	53	15	53	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960541	143960541	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:143960541T>G	ENST00000292427.4	-	2	334	c.302A>C	c.(301-303)cAa>cCa	p.Q101P	CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q101P|CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q146P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	101					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.Q101P(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTCCACCTGTTGCAGCTTCTC	0.612									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(301-303)CAA>CCA		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						210.0	152.0	172.0					8																	143960541		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960541T>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.302A>C	8.37:g.143960541T>G	ENSP00000292427:p.Gln101Pro					CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.Q101P|CYP11B1_uc010mey.2_Missense_Mutation_p.Q146P	p.Q101P	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	309	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		101					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.302A>C	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049917	0.36181	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.75260	-0.33;-0.33;-0.92	3.55	2.09	0.27110	.	0.571881	0.14325	N	0.326770	T	0.77837	0.4190	L	0.60455	1.87	0.22280	N	0.999232	D;D;D	0.58970	0.978;0.971;0.984	P;P;P	0.60541	0.629;0.793;0.876	T	0.64728	-0.6339	10	0.66056	D	0.02	.	5.1195	0.14852	0.3487:0.0:0.0:0.6513	.	146;101;101	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	P	101;101;146	ENSP00000292427:Q101P;ENSP00000428043:Q101P;ENSP00000366903:Q146P	ENSP00000292427:Q101P	Q	-	2	0	CYP11B1	143957543	0.516000	0.26218	0.205000	0.23548	0.489000	0.33432	2.408000	0.44574	1.370000	0.46153	0.397000	0.26171	CAA		PASS	0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			26	33	26	33	---	---	---	---
EXOSC4	54512	broad.mit.edu	37	8	145135440	145135440	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:145135440A>T	ENST00000316052.5	+	3	777	c.674A>T	c.(673-675)cAc>cTc	p.H225L	GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA|GPAA1_ENST00000355091.4_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	225					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)	p.H225L(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAGATGTGCACACCCTCTTA	0.617																																						uc003zau.2																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)CAC>CTC		exosome component 4							55.0	63.0	60.0					8																	145135440		2203	4300	6503	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145135440A>T	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.674A>T	8.37:g.145135440A>T	ENSP00000315476:p.His225Leu					GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	p.H225L	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	784	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		225						Missense_Mutation	SNP	ENST00000316052.5	37	c.674A>T	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.402600	0.25291	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T	0.71579	-0.58	5.38	5.38	0.77491	Exoribonuclease, phosphorolytic domain 2 (1);	0.161290	0.56097	D	0.000029	T	0.61726	0.2370	L	0.52573	1.65	0.80722	D	1	B	0.18741	0.03	B	0.09377	0.004	T	0.57130	-0.7864	10	0.10377	T	0.69	-14.0639	13.3251	0.60454	1.0:0.0:0.0:0.0	.	225	Q9NPD3	EXOS4_HUMAN	L	225;248	ENSP00000315476:H225L	ENSP00000315476:H225L	H	+	2	0	EXOSC4	145207428	0.997000	0.39634	0.747000	0.31113	0.805000	0.45488	4.751000	0.62169	2.046000	0.60703	0.459000	0.35465	CAC		PASS	0.617	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		33	40	33	40	---	---	---	---
FOXH1	8928	broad.mit.edu	37	8	145699739	145699739	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr8:145699739A>G	ENST00000377317.4	-	3	1558	c.980T>C	c.(979-981)cTa>cCa	p.L327P	FOXH1_ENST00000525197.1_5'Flank	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	327	SMAD-interaction domain (SID).				aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)	p.L327P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GAGGGCGTCTAGATCGCAGAG	0.677																																						uc003zdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)CTA>CCA		forkhead box H1							43.0	49.0	47.0					8																	145699739		2203	4300	6503	SO:0001583	missense	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr8:145699739A>G	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.980T>C	8.37:g.145699739A>G	ENSP00000366534:p.Leu327Pro						p.L327P	NM_003923	NP_003914	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	1559	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		327			SMAD-interaction domain (SID).|SMAD interaction motif (SIM).		D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	c.980T>C	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619886	0.66787	.	.	ENSG00000160973	ENST00000377317	D	0.98849	-5.18	4.97	4.97	0.65823	.	0.100193	0.41938	D	0.000800	D	0.98735	0.9575	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99026	1.0819	10	0.49607	T	0.09	-38.2953	12.7061	0.57061	1.0:0.0:0.0:0.0	.	327	O75593	FOXH1_HUMAN	P	327	ENSP00000366534:L327P	ENSP00000366534:L327P	L	-	2	0	FOXH1	145670547	0.995000	0.38212	0.940000	0.37924	0.710000	0.40934	3.455000	0.52993	2.096000	0.63516	0.477000	0.44152	CTA		PASS	0.677	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			11	40	11	40	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5968861	5968861	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:5968861C>A	ENST00000399933.3	-	3	1369	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R457M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	457								p.R457M(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AATAACTTCCCTGCATTCATG	0.388																																						uc003zjq.3																			1	Substitution - Missense(1)	p.V457F(1)	lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1369-1371)AGG>ATG		hypothetical protein LOC158358							50.0	50.0	50.0					9																	5968861		1877	4096	5973	SO:0001583	missense	158358							g.chr9:5968861C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1370G>T	9.37:g.5968861C>A	ENSP00000382815:p.Arg457Met						p.R457M	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1586	-		Acute lymphoblastic leukemia(23;0.158)	457					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1370G>T		.	.	.	.	.	.	.	.	.	.	C	18.94	3.729296	0.69074	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.91351	-2.83;-2.83;-2.83	5.93	5.93	0.95920	.	0.000000	0.53938	U	0.000047	D	0.95265	0.8464	M	0.69823	2.125	0.49213	D	0.999761	D	0.71674	0.998	D	0.76575	0.988	D	0.94998	0.8140	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	457	Q5HYC2	K2026_HUMAN	M	457;457;390	ENSP00000382815:R457M;ENSP00000370870:R457M;ENSP00000444993:R390M	ENSP00000370870:R457M	R	-	2	0	KIAA2026	5958861	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.459000	0.80802	2.814000	0.96858	0.591000	0.81541	AGG		PASS	0.388	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		19	10	19	10	---	---	---	---
HAUS6	54801	broad.mit.edu	37	9	19089422	19089422	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:19089422T>C	ENST00000380502.3	-	5	1039	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	Y_RNA_ENST00000364248.1_RNA|HAUS6_ENST00000380496.1_Missense_Mutation_p.Q55R	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	191					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.Q191R(1)		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						TGCATTTTCCTGATATTTTTG	0.348																																						uc003znk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(571-573)CAG>CGG		HAUS augmin-like complex, subunit 6							93.0	92.0	93.0					9																	19089422		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19089422T>C	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.572A>G	9.37:g.19089422T>C	ENSP00000369871:p.Gln191Arg					HAUS6_uc003znl.1_Missense_Mutation_p.Q55R	p.Q191R	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			5	825	-			191			Potential.		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.572A>G	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998951	0.74818	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.18810	2.19;2.19	5.15	5.15	0.70609	.	0.056482	0.64402	D	0.000001	T	0.38134	0.1029	M	0.80183	2.485	0.40397	D	0.979602	P;P	0.51351	0.944;0.587	P;B	0.50617	0.646;0.266	T	0.44345	-0.9334	10	0.87932	D	0	-1.6454	12.9626	0.58466	0.0:0.0:0.0:1.0	.	55;191	Q5VY60;Q7Z4H7	.;HAUS6_HUMAN	R	191;55	ENSP00000369871:Q191R;ENSP00000369865:Q55R	ENSP00000369865:Q55R	Q	-	2	0	HAUS6	19079422	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.376000	0.52417	1.950000	0.56595	0.455000	0.32223	CAG		PASS	0.348	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		3	37	3	37	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21994138	21994138	+	Splice_Site	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:21994138C>A	ENST00000579755.1	-	1	485	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C	CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2A_ENST00000498628.2_Intron|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Splice_Site_p.G106C|CDKN2A_ENST00000530628.2_Splice_Site_p.G65C|CDKN2B-AS1_ENST00000584020.1_RNA			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	82					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?(198)|p.0(1)|p.G106C(1)|p.?(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)		CCTTTCCTACCTGGTCTTCTA	0.602		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpl.2		17																	201	Whole gene deletion(199)|Substitution - Missense(1)|Unknown(1)	p.0?(197)|p.V106V(2)|p.V106M(2)	haematopoietic_and_lymphoid_tissue(34)|lung(33)|central_nervous_system(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1)	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.(316-318)GGT>TGT		cyclin-dependent kinase inhibitor 2A isoform 4							13.0	15.0	14.0					9																	21994138		2172	4254	6426	SO:0001630	splice_region_variant	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.chr9:21994138C>A	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	ENST00000579755.1:c.193+1G>T	9.37:g.21994138C>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_5'Flank|CDKN2BAS_uc010mix.1_5'Flank|CDKN2BAS_uc003zpm.2_5'Flank	p.G106C	NM_058195	NP_478102	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	353	-		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)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000579755.1	37	c.316G>T	CCDS6511.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212791	0.79352	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	D;D	0.88896	-2.44;-2.35	4.23	4.23	0.50019	.	0.000000	0.40302	N	0.001140	D	0.90366	0.6985	L	0.36672	1.1	0.35247	D	0.778356	D	0.89917	1.0	D	0.91635	0.999	D	0.91312	0.5075	9	.	.	.	.	12.2937	0.54833	0.0:1.0:0.0:0.0	.	106	Q8N726	CD2A2_HUMAN	C	106;65	ENSP00000355153:G106C;ENSP00000432664:G65C	.	G	-	1	0	CDKN2A	21984138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.177000	0.50871	2.367000	0.80283	0.555000	0.69702	GGT		PASS	0.602	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051918.5	NM_000077	Missense_Mutation	7	10	7	10	---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22451417	22451417	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:22451417G>T	ENST00000325870.2	+	2	1247	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	341					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R341M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CCAAATTACAGGCGCAGCCGG	0.483																																						uc003zpp.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1021-1023)AGG>ATG		DMRT-like family A1							49.0	53.0	51.0					9																	22451417		2203	4300	6503	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451417G>T	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1022G>T	9.37:g.22451417G>T	ENSP00000319651:p.Arg341Met						p.R341M	NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1247	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	341					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.1022G>T	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798836	0.70567	.	.	ENSG00000176399	ENST00000325870	T	0.51071	0.72	6.07	2.24	0.28232	DMRTA motif (1);UBA-like (1);	0.194852	0.53938	D	0.000052	T	0.59059	0.2166	M	0.66939	2.045	0.28037	N	0.933895	D	0.76494	0.999	D	0.65323	0.934	T	0.52215	-0.8605	10	0.59425	D	0.04	-13.0159	7.8584	0.29495	0.4738:0.0:0.5262:0.0	.	341	Q5VZB9	DMRTA_HUMAN	M	341	ENSP00000319651:R341M	ENSP00000319651:R341M	R	+	2	0	DMRTA1	22441417	1.000000	0.71417	0.961000	0.40146	0.903000	0.53119	4.378000	0.59568	0.635000	0.30488	0.655000	0.94253	AGG		PASS	0.483	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			19	19	19	19	---	---	---	---
ELAVL2	1993	broad.mit.edu	37	9	23692818	23692818	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:23692818C>T	ENST00000397312.2	-	7	1091	c.817G>A	c.(817-819)Gga>Aga	p.G273R	ELAVL2_ENST00000380110.4_Missense_Mutation_p.G303R|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G273R|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G273R|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G260R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	273					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G273R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CACCCTGTTCCAGGGTGCCCA	0.458																																						uc003zpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(817-819)GGA>AGA		ELAV (embryonic lethal, abnormal vision,							81.0	77.0	78.0					9																	23692818		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23692818C>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.817G>A	9.37:g.23692818C>T	ENSP00000380479:p.Gly273Arg					ELAVL2_uc003zps.2_Missense_Mutation_p.G260R|ELAVL2_uc003zpt.2_Missense_Mutation_p.G260R|ELAVL2_uc003zpv.2_Missense_Mutation_p.G273R|ELAVL2_uc003zpw.2_Missense_Mutation_p.G260R	p.G273R	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	7	1092	-			273					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.817G>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651228	0.67472	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	M	0.73217	2.22	0.80722	D	1	B;P	0.39443	0.255;0.674	B;P	0.44946	0.187;0.465	T	0.00082	-1.2105	10	0.87932	D	0	.	20.0688	0.97709	0.0:1.0:0.0:0.0	.	273;260	Q12926;Q12926-2	ELAV2_HUMAN;.	R	260;273;273;260;273;301	ENSP00000223951:G260R;ENSP00000380479:G273R;ENSP00000440998:G273R;ENSP00000369460:G273R	ENSP00000223951:G260R	G	-	1	0	ELAVL2	23682818	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.468000	0.80943	2.751000	0.94390	0.555000	0.69702	GGA		PASS	0.458	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		25	28	25	28	---	---	---	---
B4GALT1	2683	broad.mit.edu	37	9	33166879	33166879	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:33166879C>A	ENST00000379731.4	-	1	475	c.289G>T	c.(289-291)Ggt>Tgt	p.G97C	RP11-326F20.5_ENST00000426270.1_RNA|B4GALT1_ENST00000535206.1_Missense_Mutation_p.G97C|RP11-326F20.5_ENST00000442432.1_RNA	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	97				SSQPRPGGDSSPVVDSGPGPASNLT -> GKHAKSSFKQFL LQIKELSNPIDLD (in Ref. 6; AAA68219). {ECO:0000305}.	acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)	p.G97C(1)		endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GAGTCGCCACCCGGGCGCGGC	0.741																																						uc003zsg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)GGT>TGT		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						11.0	15.0	13.0					9																	33166879		2185	4280	6465	SO:0001583	missense	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33166879C>A	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.289G>T	9.37:g.33166879C>A	ENSP00000369055:p.Gly97Cys						p.G97C	NM_001497	NP_001488	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	1	478	-			97	SSQPRPGGDSSPVVDSGPGPASNLT -> GKHAKSSFKQFL LQIKELSNPIDLD (in Ref. 6; AAA68219).		Lumenal (Potential).		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	c.289G>T	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186730	0.21870	.	.	ENSG00000086062	ENST00000535206;ENST00000379731	T;T	0.47869	1.78;0.83	3.9	0.438	0.16560	.	3.317430	0.01150	N	0.006390	T	0.39436	0.1078	L	0.36672	1.1	0.09310	N	0.999996	P	0.52463	0.953	B	0.43155	0.41	T	0.22730	-1.0208	10	0.36615	T	0.2	-20.061	4.5213	0.11960	0.0:0.5771:0.1786:0.2443	.	97	P15291	B4GT1_HUMAN	C	97	ENSP00000440341:G97C;ENSP00000369055:G97C	ENSP00000369055:G97C	G	-	1	0	B4GALT1	33156879	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	0.636000	0.24644	-0.028000	0.13850	0.455000	0.32223	GGT		PASS	0.741	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		3	4	3	4	---	---	---	---
C9orf89	84270	broad.mit.edu	37	9	95872957	95872957	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:95872957C>T	ENST00000375464.2	+	3	386	c.258C>T	c.(256-258)atC>atT	p.I86I	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	86	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)	p.I86I(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCCTGTATATCCAtgcccagc	0.657																																						uc004atd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)ATC>ATT		chromosome 9 open reading frame 89							62.0	62.0	62.0					9																	95872957		2203	4300	6503	SO:0001819	synonymous_variant	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95872957C>T	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.258C>T	9.37:g.95872957C>T						C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA	p.I86I	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN			3	436	+			86			CARD.		Q5BJH8|Q9BSY2	Silent	SNP	ENST00000375464.2	37	c.258C>T	CCDS6702.2																																																																																				PASS	0.657	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		8	33	8	33	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109773256	109773256	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:109773256G>T	ENST00000277225.5	+	13	7755	c.7466G>T	c.(7465-7467)tGt>tTt	p.C2489F	ZNF462_ENST00000542028.1_Missense_Mutation_p.C446F|ZNF462_ENST00000457913.1_Missense_Mutation_p.C2549F|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.C1395F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2489					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C2489F(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTAGCCATCTGTGTAGTAACT	0.413																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(7465-7467)TGT>TTT		zinc finger protein 462							96.0	88.0	91.0					9																	109773256		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109773256G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7466G>T	9.37:g.109773256G>T	ENSP00000277225:p.Cys2489Phe					ZNF462_uc010mto.2_Missense_Mutation_p.C2398F|ZNF462_uc004bda.2_Missense_Mutation_p.C2397F|ZNF462_uc011lvz.1_Missense_Mutation_p.C446F|uc004bdc.1_Intron	p.C2489F	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			13	7755	+			2489					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.7466G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988137	0.53934	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.14516	3.45;3.93;4.05;4.06;2.5	5.75	5.75	0.90469	.	0.117965	0.56097	D	0.000022	T	0.16981	0.0408	L	0.44542	1.39	0.40796	D	0.983291	P;P	0.43352	0.804;0.736	B;B	0.42738	0.396;0.205	T	0.01930	-1.1245	10	0.26408	T	0.33	.	18.1404	0.89637	0.0:0.0:1.0:0.0	.	2549;2489	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	F	2489;2549;1432;1395;446	ENSP00000277225:C2489F;ENSP00000414570:C2549F;ENSP00000363818:C1432F;ENSP00000397306:C1395F;ENSP00000439771:C446F	ENSP00000277225:C2489F	C	+	2	0	ZNF462	108813077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.587000	0.53957	2.716000	0.92895	0.655000	0.94253	TGT		PASS	0.413	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		13	27	13	27	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121929944	121929944	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:121929944G>C	ENST00000265922.3	-	8	2165	c.1704C>G	c.(1702-1704)agC>agG	p.S568R	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	568					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.S568R(1)									AATGGCTCCCGCTAAAGGGGT	0.557																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1702-1704)AGC>AGG		deleted in bladder cancer 1 precursor							40.0	41.0	40.0					9																	121929944		2202	4295	6497	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929944G>C	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1704C>G	9.37:g.121929944G>C	ENSP00000265922:p.Ser568Arg						p.S568R	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2160	-			568					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1704C>G	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815124	0.50527	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15952	2.38	5.65	-3.99	0.04069	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.36672	1.1	0.58432	D	0.999997	D	0.67145	0.996	D	0.70487	0.969	T	0.00735	-1.1588	10	0.87932	D	0	-26.6141	13.9963	0.64405	0.6016:0.0:0.3984:0.0	.	568	O60477	DBC1_HUMAN	R	568	ENSP00000265922:S568R	ENSP00000265922:S568R	S	-	3	2	DBC1	120969765	0.002000	0.14202	0.948000	0.38648	0.973000	0.67179	-1.031000	0.03578	-0.711000	0.04995	-0.140000	0.14226	AGC		PASS	0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		5	32	5	32	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131730888	131730888	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:131730888G>C	ENST00000372577.2	+	9	710	c.689G>C	c.(688-690)aGt>aCt	p.S230T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	230					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.S230T(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGGCACCCAGTGACTTACTT	0.433																																						uc004bws.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(688-690)AGT>ACT		nucleoporin 188kDa							154.0	143.0	146.0					9																	131730888		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131730888G>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.689G>C	9.37:g.131730888G>C	ENSP00000361658:p.Ser230Thr						p.S230T	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			9	711	+			230					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.689G>C	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180524	0.06380	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.53	1.3	0.21679	.	0.593870	0.20731	N	0.086719	T	0.12305	0.0299	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.16722	0.016	T	0.30475	-0.9977	10	0.19590	T	0.45	-9.5126	8.2099	0.31478	0.1566:0.5179:0.3255:0.0	.	230	Q5SRE5	NU188_HUMAN	T	119;230	ENSP00000361658:S230T	ENSP00000349125:S119T	S	+	2	0	NUP188	130770709	0.143000	0.22626	0.988000	0.46212	0.905000	0.53344	0.664000	0.25068	0.362000	0.24319	0.563000	0.77884	AGT		PASS	0.433	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			18	45	18	45	---	---	---	---
POMT1	10585	broad.mit.edu	37	9	134394307	134394307	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:134394307C>T	ENST00000372228.3	+	15	1694	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	POMT1_ENST00000341012.7_Silent_p.S429S|POMT1_ENST00000423007.1_Silent_p.S483S|POMT1_ENST00000404875.2_Silent_p.S366S|POMT1_ENST00000402686.3_Silent_p.S483S|POMT1_ENST00000419118.2_Silent_p.S331S|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000541219.1_Silent_p.S261S|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000354713.4_Silent_p.S453S	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	505	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.S505S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACCACGGGAGCACGGTGTGGA	0.627																																						uc004cav.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1513-1515)AGC>AGT		protein-O-mannosyltransferase 1 isoform a							50.0	49.0	50.0					9																	134394307		2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134394307C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1515C>T	9.37:g.134394307C>T						POMT1_uc004cax.2_Silent_p.S483S|POMT1_uc011mcj.1_Silent_p.S261S|POMT1_uc004cau.2_Silent_p.S483S|POMT1_uc004caw.2_Silent_p.S429S|POMT1_uc011mck.1_Silent_p.S366S|POMT1_uc011mcl.1_Silent_p.S331S|POMT1_uc011mcm.1_Silent_p.S453S|POMT1_uc011mcn.1_3'UTR	p.S505S	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	15	1717	+		Myeloproliferative disorder(178;0.204)	505			MIR 3.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1515C>T	CCDS6943.1																																																																																				PASS	0.627	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		12	40	12	40	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138669247	138669247	+	Missense_Mutation	SNP	G	G	A	rs376955682		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:138669247G>A	ENST00000263604.3	+	21	2356	c.2356G>A	c.(2356-2358)Gtc>Atc	p.V786I	KCNT1_ENST00000298480.5_Missense_Mutation_p.V805I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V805I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V786I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V764I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V784I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V772I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V760I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	786					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.V805I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCTGATCATCGTCTCGGCAGA	0.597																																						uc011mdq.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2413-2415)GTC>ATC		potassium channel, subfamily T, member 1		G	ILE/VAL	0,4406		0,0,2203	112.0	98.0	102.0		2413	4.4	0.9	9		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNT1	NM_020822.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	805/1236	138669247	1,13005	2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669247G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2356G>A	9.37:g.138669247G>A	ENSP00000263604:p.Val786Ile					KCNT1_uc011mdr.1_Missense_Mutation_p.V632I|KCNT1_uc010nbf.2_Missense_Mutation_p.V760I|KCNT1_uc004cgo.1_Missense_Mutation_p.V554I	p.V805I	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2487	+		Myeloproliferative disorder(178;0.0821)	805					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2413G>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.958292	0.73902	0.0	1.16E-4	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.38	4.38	0.52667	.	0.000000	0.64402	U	0.000001	T	0.78553	0.4301	L	0.47016	1.485	0.58432	D	0.999999	D;D;D;D	0.64830	0.989;0.989;0.994;0.989	P;P;P;P	0.57009	0.762;0.578;0.811;0.478	T	0.77273	-0.2649	10	0.31617	T	0.26	-30.6282	16.9486	0.86237	0.0:0.0:1.0:0.0	.	772;805;760;786	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	I	760;805;805;764;772;786;784;786	ENSP00000417851:V760I;ENSP00000298480:V805I;ENSP00000360822:V805I;ENSP00000263604:V786I	ENSP00000263604:V786I	V	+	1	0	KCNT1	137809068	1.000000	0.71417	0.947000	0.38551	0.436000	0.31835	9.639000	0.98448	1.976000	0.57569	0.561000	0.74099	GTC		PASS	0.597	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		18	28	18	28	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139405214	139405214	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr9:139405214C>A	ENST00000277541.6	-	17	2706	c.2631G>T	c.(2629-2631)ccG>ccT	p.P877P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	877	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P878P(1)|p.P877P(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGCCGGCACGGGCTCAGAA	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2629-2631)CCG>CCT		notch1 preproprotein							32.0	40.0	38.0					9																	139405214		2047	4167	6214	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139405214C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2631G>T	9.37:g.139405214C>A		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Silent_p.P107P	p.P877P	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	17	2631	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	877			Extracellular (Potential).|EGF-like 23; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.2631G>T	CCDS43905.1																																																																																				PASS	0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	24	8	24	---	---	---	---
SEC61A2	55176	broad.mit.edu	37	10	12191907	12191907	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:12191907T>A	ENST00000298428.9	+	6	498	c.409T>A	c.(409-411)Tat>Aat	p.Y137N	SEC61A2_ENST00000379017.3_Missense_Mutation_p.Y137N|SEC61A2_ENST00000379051.1_Missense_Mutation_p.Y137N|SEC61A2_ENST00000379020.4_Missense_Mutation_p.Y137N|SEC61A2_ENST00000379033.3_Missense_Mutation_p.Y115N|SEC61A2_ENST00000304267.8_Missense_Mutation_p.Y137N|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	137					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.Y137N(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GACGGGGATGTATGGGGACCC	0.443																																						uc001ile.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(409-411)TAT>AAT		Sec61 alpha form 2 isoform a							159.0	153.0	155.0					10																	12191907		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12191907T>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.409T>A	10.37:g.12191907T>A	ENSP00000298428:p.Tyr137Asn					SEC61A2_uc010qbq.1_Missense_Mutation_p.Y115N|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Missense_Mutation_p.Y137N	p.Y137N	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			6	556	+		Renal(717;0.228)	137			Helical; (Potential).		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.409T>A	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.063355|4.063355	0.76187|0.76187	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000418772;ENST00000419021|ENST00000379051;ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000379017	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|SecY subunit domain (2);	.|0.000000	.|0.47455	.|D	.|0.000224	D|D	0.88243|0.88243	0.6384|0.6384	H|H	0.98089|0.98089	4.145|4.145	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.995;1.0;1.0	D|D	0.92365|0.92365	0.5900|0.5900	5|9	.|0.87932	.|D	.|0	-7.3772|-7.3772	14.1664|14.1664	0.65480|0.65480	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|115;137;137	.|F8W773;Q9H9S3-2;Q9H9S3	.|.;.;S61A2_HUMAN	E|N	82;18|137;115;137;137;137;137	.|.	.|ENSP00000298428:Y137N	V|Y	+|+	2|1	0|0	SEC61A2|SEC61A2	12231913|12231913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.709000|0.709000	0.40893|0.40893	8.013000|8.013000	0.88655|0.88655	1.942000|1.942000	0.56320|0.56320	0.383000|0.383000	0.25322|0.25322	GTA|TAT		PASS	0.443	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		14	86	14	86	---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18825123	18825123	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:18825123C>A	ENST00000324631.7	+	12	1360	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T	CACNB2_ENST00000352115.6_Missense_Mutation_p.P410T|CACNB2_ENST00000377328.1_Missense_Mutation_p.P184T|CACNB2_ENST00000377329.4_Missense_Mutation_p.P380T|CACNB2_ENST00000377319.3_Missense_Mutation_p.P341T|CACNB2_ENST00000282343.8_Missense_Mutation_p.P406T|CACNB2_ENST00000377315.4_Missense_Mutation_p.P386T|RP11-383B4.4_ENST00000433526.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.P379T|CACNB2_ENST00000377331.2_Missense_Mutation_p.P382T|RP11-499P20.2_ENST00000425669.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	434					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.P379T(1)|p.P380T(1)|p.P410T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGTGTCCTCCAGTAAGTTA	0.363																																						uc001ipr.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1300-1302)CCA>ACA		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						79.0	77.0	78.0					10																	18825123		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18825123C>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1300C>A	10.37:g.18825123C>A	ENSP00000320025:p.Pro434Thr					CACNB2_uc009xjz.1_Missense_Mutation_p.P184T|CACNB2_uc001ips.2_Missense_Mutation_p.P410T|CACNB2_uc001ipt.2_Missense_Mutation_p.P396T|CACNB2_uc001ipu.2_Missense_Mutation_p.P406T|CACNB2_uc001ipv.2_Missense_Mutation_p.P382T|CACNB2_uc009xka.1_Missense_Mutation_p.P368T|CACNB2_uc001ipw.2_Missense_Mutation_p.P341T|CACNB2_uc001ipx.2_Missense_Mutation_p.P379T|CACNB2_uc001ipz.2_Missense_Mutation_p.P356T|CACNB2_uc001ipy.2_Missense_Mutation_p.P380T|CACNB2_uc010qco.1_Missense_Mutation_p.P348T|CACNB2_uc001iqa.2_Missense_Mutation_p.P386T|NSUN6_uc001iqb.2_Intron	p.P434T	NM_201596	NP_963890	Q08289	CACB2_HUMAN			12	1360	+			434					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1300C>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204395	0.79127	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;T;D;D;D;D;D;D	0.82984	-1.67;-1.67;1.0;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.64	5.64	0.86602	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.107991	0.64402	D	0.000004	D	0.90324	0.6973	M	0.81239	2.535	0.58432	D	0.999997	P;P;P;P;P;P;P;P;P;P;P;P;P	0.50369	0.592;0.758;0.588;0.623;0.914;0.57;0.862;0.664;0.592;0.842;0.934;0.824;0.758	B;P;P;P;P;B;P;B;B;P;P;B;P	0.56088	0.316;0.462;0.791;0.493;0.576;0.441;0.717;0.232;0.413;0.595;0.596;0.332;0.567	D	0.91118	0.4927	10	0.87932	D	0	-14.7009	19.706	0.96072	0.0:1.0:0.0:0.0	.	348;406;184;386;356;380;390;341;382;406;396;410;434	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	T	434;410;184;406;382;379;341;380;386	ENSP00000320025:P434T;ENSP00000344474:P410T;ENSP00000366545:P184T;ENSP00000282343:P406T;ENSP00000366548:P382T;ENSP00000379821:P379T;ENSP00000366536:P341T;ENSP00000366546:P380T;ENSP00000366532:P386T	ENSP00000282343:P406T	P	+	1	0	CACNB2	18865129	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.029000	0.57253	2.673000	0.90976	0.591000	0.81541	CCA		PASS	0.363	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		17	21	17	21	---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	22880610	22880610	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:22880610A>G	ENST00000376573.4	-	4	668	c.440T>C	c.(439-441)aTt>aCt	p.I147T	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.I88T|PIP4K2A_ENST00000323883.7_5'UTR|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	147	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.I147T(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTCACTGGTAATAGTCTTGAT	0.463																																						uc001irl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(439-441)ATT>ACT		phosphatidylinositol-5-phosphate 4-kinase, type							133.0	121.0	125.0					10																	22880610		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22880610A>G	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.440T>C	10.37:g.22880610A>G	ENSP00000365757:p.Ile147Thr					PIP4K2A_uc010qcu.1_5'UTR	p.I147T	NM_005028	NP_005019	P48426	PI42A_HUMAN			4	688	-			147			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.440T>C	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.130943	0.56828	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565	T;T	0.36520	1.25;1.25	5.98	5.98	0.97165	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.052690	0.85682	D	0.000000	T	0.48995	0.1531	M	0.84156	2.68	0.80722	D	1	B	0.23540	0.087	B	0.30572	0.117	T	0.51348	-0.8717	10	0.87932	D	0	-20.7554	16.4728	0.84119	1.0:0.0:0.0:0.0	.	147	P48426	PI42A_HUMAN	T	147;88;99;106	ENSP00000365757:I147T;ENSP00000442098:I88T	ENSP00000365749:I106T	I	-	2	0	PIP4K2A	22920616	1.000000	0.71417	0.993000	0.49108	0.614000	0.37383	8.962000	0.93254	2.296000	0.77279	0.482000	0.46254	ATT		PASS	0.463	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		10	80	10	80	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29813479	29813479	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:29813479C>A	ENST00000355867.4	-	14	3260	c.2508G>T	c.(2506-2508)cgG>cgT	p.R836R	SVIL_ENST00000375398.2_Silent_p.R836R|SVIL_ENST00000375400.3_Silent_p.R410R|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	836					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.R836R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTATTCTGTTCCGGGTAGAAA	0.498																																						uc001iut.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2506-2508)CGG>CGT		supervillin isoform 2							178.0	159.0	165.0					10																	29813479		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29813479C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2508G>T	10.37:g.29813479C>A						SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.R410R	p.R836R	NM_021738	NP_068506	O95425	SVIL_HUMAN			14	3261	-		Breast(68;0.103)	836					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.2508G>T	CCDS7164.1																																																																																				PASS	0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			10	67	10	67	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	33103303	33103304	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:33103303_33103304GA>AT	ENST00000375028.3	+	10	914_915	c.844_845GA>AT	c.(844-846)GAt>ATt	p.D282I	C10orf68_ENST00000375025.4_Missense_Mutation_p.D342I|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN		306								p.D306V(1)|p.D306I(1)|p.D306N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TATAGGGCCTGATATAGAACAA	0.347																																						uc001iwn.3																			3	Substitution - Missense(3)		lung(3)	skin(2)|ovary(1)	3						c.(916-918)GAT>AAT|c.(916-918)GAT>GTT		chromosome 10 open reading frame 68																																				SO:0001583	missense	79741							g.chr10:33103303G>A|g.chr10:33103304A>T																												Exception_encountered	10.37:g.33103303_33103304delinsAT	ENSP00000364168:p.Asp282Ile					C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.D282N|C10orf68_uc010qei.1_Missense_Mutation_p.D254N|C10orf68_uc001iwo.3_RNA|C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.D282V|C10orf68_uc010qei.1_Missense_Mutation_p.D254V|C10orf68_uc001iwo.3_RNA	p.D306N|p.D306V	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			12	1389|1390	+			306					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375028.3	37	c.916G>A|c.917A>T																																																																																					PASS	0.347	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2			46|45	61|62	45	61	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37442556	37442556	+	Silent	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:37442556A>G	ENST00000602533.1	+	13	1695	c.1596A>G	c.(1594-1596)caA>caG	p.Q532Q	ANKRD30A_ENST00000374660.1_Silent_p.Q532Q|ANKRD30A_ENST00000361713.1_Silent_p.Q532Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	588					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q532Q(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTACACATCAAAAAGAAATAG	0.308																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1594-1596)CAA>CAG		ankyrin repeat domain 30A							142.0	141.0	141.0					10																	37442556		1797	4058	5855	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442556A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1596A>G	10.37:g.37442556A>G							p.Q532Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			13	1695	+			588					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1596A>G																																																																																					PASS	0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	148	6	148	---	---	---	---
CSGALNACT2	55454	broad.mit.edu	37	10	43678762	43678762	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:43678762A>T	ENST00000374466.3	+	8	1736	c.1401A>T	c.(1399-1401)ttA>ttT	p.L467F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	467					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L467F(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAAAATACTTACATGGTGACC	0.458																																						uc001jan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1399-1401)TTA>TTT		chondroitin sulfate							148.0	144.0	145.0					10																	43678762		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43678762A>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1401A>T	10.37:g.43678762A>T	ENSP00000363590:p.Leu467Phe						p.L467F	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			8	1736	+			467			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.1401A>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167457	0.78339	.	.	ENSG00000169826	ENST00000374466	T	0.19532	2.14	5.87	2.35	0.29111	.	0.064900	0.64402	D	0.000006	T	0.41143	0.1146	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.17379	-1.0371	10	0.59425	D	0.04	-9.4224	6.7582	0.23526	0.5631:0.0:0.4369:0.0	.	467	Q8N6G5	CGAT2_HUMAN	F	467	ENSP00000363590:L467F	ENSP00000363590:L467F	L	+	3	2	CSGALNACT2	42998768	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	0.910000	0.28571	0.582000	0.29556	0.533000	0.62120	TTA		PASS	0.458	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		65	80	65	80	---	---	---	---
ZNF488	118738	broad.mit.edu	37	10	48370751	48370751	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:48370751G>T	ENST00000395702.2	+	2	446	c.219G>T	c.(217-219)gaG>gaT	p.E73D	ZNF488_ENST00000586537.1_Intron|ZNF488_ENST00000494156.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	73					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E73D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCAGTGCGGAGCTGGCACTGT	0.701																																						uc001jex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(217-219)GAG>GAT		zinc finger protein 488							24.0	30.0	28.0					10																	48370751		2201	4298	6499	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48370751G>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.219G>T	10.37:g.48370751G>T	ENSP00000379054:p.Glu73Asp					ZNF488_uc001jey.2_Intron	p.E73D	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	381	+			73					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.219G>T	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689079	0.48097	.	.	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.57436	1.65;0.48;0.62;0.4;0.89;0.91	5.16	-1.88	0.07713	.	1.257190	0.05447	N	0.548834	T	0.35682	0.0940	N	0.21097	0.63	0.18873	N	0.999983	B	0.17465	0.022	B	0.14578	0.011	T	0.22312	-1.0220	10	0.38643	T	0.18	.	6.0933	0.20007	0.2328:0.3765:0.3907:0.0	.	73	Q96MN9	ZN488_HUMAN	D	73	ENSP00000379054:E73D;ENSP00000401469:E73D;ENSP00000415923:E73D;ENSP00000406508:E73D;ENSP00000410326:E73D;ENSP00000412898:E73D	ENSP00000379054:E73D	E	+	3	2	ZNF488	47990757	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.421000	0.07053	-0.368000	0.08040	-0.305000	0.09177	GAG		PASS	0.701	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		5	28	5	28	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48390116	48390116	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:48390116C>T	ENST00000224600.4	-	1	875	c.762G>A	c.(760-762)gtG>gtA	p.V254V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	254	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.V254V(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTCGCCCACCACGATGGCCC	0.662																																						uc001jez.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(760-762)GTG>GTA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						41.0	36.0	38.0					10																	48390116		2202	4300	6502	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390116C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.762G>A	10.37:g.48390116C>T							p.V254V	NM_002900	NP_002891	P10745	RET3_HUMAN			1	876	-			254			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.762G>A	CCDS7218.1																																																																																				PASS	0.662	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		11	21	11	21	---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49618206	49618206	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:49618206C>T	ENST00000374189.1	+	5	626	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	MAPK8_ENST00000360332.3_Missense_Mutation_p.H149Y|MAPK8_ENST00000395611.3_Missense_Mutation_p.H149Y|MAPK8_ENST00000374174.1_Missense_Mutation_p.H149Y|MAPK8_ENST00000374182.3_Missense_Mutation_p.H149Y			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.H149Y(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGGAATTATTCATCGGGTTAG	0.368																																						uc009xnz.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(445-447)CAT>TAT		mitogen-activated protein kinase 8 isoform JNK1							172.0	153.0	160.0					10																	49618206		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49618206C>T	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.445C>T	10.37:g.49618206C>T	ENSP00000363304:p.His149Tyr					MAPK8_uc001jgl.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgm.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgo.2_Missense_Mutation_p.H149Y|MAPK8_uc009xoa.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgn.2_Missense_Mutation_p.H149Y|MAPK8_uc010qgk.1_Missense_Mutation_p.H149Y|MAPK8_uc001jgp.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgq.2_Missense_Mutation_p.H149Y	p.H149Y	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	5	669	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	149			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.445C>T	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980929	0.92982	.	.	ENSG00000107643	ENST00000429041;ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	H	0.97186	3.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.998;0.998;0.996	D	0.99316	1.0905	9	.	.	.	.	19.547	0.95302	0.0:1.0:0.0:0.0	.	149;149;149;149;149	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	Y	66;149;149;149;149;149;149;149	ENSP00000393223:H66Y;ENSP00000363304:H149Y;ENSP00000363297:H149Y;ENSP00000363294:H149Y;ENSP00000353483:H149Y;ENSP00000363291:H149Y;ENSP00000363289:H149Y;ENSP00000378974:H149Y	.	H	+	1	0	MAPK8	49288212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.695000	0.91970	0.650000	0.86243	CAT		PASS	0.368	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			13	132	13	132	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50854662	50854662	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:50854662T>A	ENST00000337653.2	+	8	1376	c.1223T>A	c.(1222-1224)cTt>cAt	p.L408H	CHAT_ENST00000395559.2_Missense_Mutation_p.L290H|CHAT_ENST00000395562.2_Missense_Mutation_p.L326H|CHAT_ENST00000351556.3_Missense_Mutation_p.L290H|CHAT_ENST00000455728.2_Missense_Mutation_p.L290H|CHAT_ENST00000339797.1_Missense_Mutation_p.L290H	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	408					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.L408H(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CTCCAGCTCCTTCACGGCGGA	0.642																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1222-1224)CTT>CAT		choline acetyltransferase isoform 2	Choline(DB00122)						86.0	74.0	78.0					10																	50854662		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50854662T>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1223T>A	10.37:g.50854662T>A	ENSP00000337103:p.Leu408His					CHAT_uc001jhv.1_Missense_Mutation_p.L290H|CHAT_uc001jhx.1_Missense_Mutation_p.L290H|CHAT_uc001jhy.1_Missense_Mutation_p.L290H|CHAT_uc001jia.2_Missense_Mutation_p.L290H|CHAT_uc010qgs.1_Missense_Mutation_p.L290H	p.L408H	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1376	+		all_neural(218;0.107)	408					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1223T>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793255	0.90453	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98338	1.0537	10	0.87932	D	0	-18.039	15.1968	0.73096	0.0:0.0:0.0:1.0	.	290;408	F8W8I2;P28329	.;CLAT_HUMAN	H	290;290;290;408;326;290	ENSP00000343486:L290H;ENSP00000345878:L290H;ENSP00000378926:L290H;ENSP00000337103:L408H;ENSP00000378929:L326H;ENSP00000390521:L290H	ENSP00000337103:L408H	L	+	2	0	CHAT	50524668	1.000000	0.71417	0.977000	0.42913	0.961000	0.63080	8.040000	0.89188	1.996000	0.58369	0.533000	0.62120	CTT		PASS	0.642	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		21	29	21	29	---	---	---	---
ANK3	288	broad.mit.edu	37	10	62029914	62029914	+	Missense_Mutation	SNP	C	C	A	rs570107065		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:62029914C>A	ENST00000280772.2	-	5	679	c.488G>T	c.(487-489)gGt>gTt	p.G163V	ANK3_ENST00000503366.1_Missense_Mutation_p.G146V|ANK3_ENST00000373827.2_Missense_Mutation_p.G157V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	163					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G163V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGGCTTGCACCATTGTCAAG	0.398																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(487-489)GGT>GTT		ankyrin 3 isoform 1							83.0	89.0	87.0					10																	62029914		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62029914C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.488G>T	10.37:g.62029914C>A	ENSP00000280772:p.Gly163Val					ANK3_uc010qih.1_Missense_Mutation_p.G146V|ANK3_uc001jkz.3_Missense_Mutation_p.G157V|ANK3_uc001jlb.1_5'UTR	p.G163V	NM_020987	NP_066267	Q12955	ANK3_HUMAN			5	680	-			163			ANK 3.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.488G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118496	0.77323	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	D;T;T;T	0.81908	-1.55;-0.16;-0.72;1.52	4.87	4.87	0.63330	Ankyrin repeat-containing domain (4);	0.000000	0.41097	D	0.000960	D	0.92244	0.7540	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76071	0.987;0.983;0.96	D	0.93535	0.6873	10	0.87932	D	0	.	18.201	0.89838	0.0:1.0:0.0:0.0	.	146;157;163	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	V	163;157;146;125;137	ENSP00000280772:G163V;ENSP00000362933:G157V;ENSP00000425236:G146V;ENSP00000426011:G137V	ENSP00000280772:G163V	G	-	2	0	ANK3	61699920	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.892000	0.69790	2.526000	0.85167	0.455000	0.32223	GGT		PASS	0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		34	42	34	42	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68040337	68040337	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:68040337G>T	ENST00000433211.2	-	13	1949	c.1775C>A	c.(1774-1776)gCc>gAc	p.A592D	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A592D	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.A592D(2)|p.A592V(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTTGCTTAAGGCTTCCAAGGC	0.323																																						uc009xpn.1																			4	Substitution - Missense(4)		lung(4)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1774-1776)GCC>GAC		catenin, alpha 3							127.0	121.0	123.0					10																	68040337		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040337G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1775C>A	10.37:g.68040337G>T	ENSP00000389714:p.Ala592Asp					CTNNA3_uc001jmw.2_Missense_Mutation_p.A592D	p.A592D	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			13	1898	-			592						Missense_Mutation	SNP	ENST00000433211.2	37	c.1775C>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650142	0.29336	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.33216	1.42;1.42	5.63	4.74	0.60224	.	0.251301	0.28521	N	0.015047	T	0.57169	0.2035	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.62310	-0.6881	10	0.62326	D	0.03	-8.4199	10.8232	0.46617	0.0866:0.0:0.9134:0.0	.	592	Q9UI47	CTNA3_HUMAN	D	592	ENSP00000389714:A592D;ENSP00000362849:A592D	ENSP00000362849:A592D	A	-	2	0	CTNNA3	67710343	0.944000	0.32072	0.982000	0.44146	0.464000	0.32679	1.620000	0.36976	1.407000	0.46875	-0.123000	0.14984	GCC		PASS	0.323	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		6	64	6	64	---	---	---	---
NPFFR1	64106	broad.mit.edu	37	10	72026002	72026002	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:72026002C>A	ENST00000277942.6	-	2	152	c.153G>T	c.(151-153)gcG>gcT	p.A51A		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	51					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.A51A(2)		endometrium(2)|lung(1)	3						GGAAGATGAGCGCATAGGCCA	0.547																																						uc010qjk.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(145-147)GCG>GCT		neuropeptide FF receptor 1							72.0	73.0	73.0					10																	72026002		2148	4254	6402	SO:0001819	synonymous_variant	64106					integral to membrane|plasma membrane	neuropeptide receptor activity	g.chr10:72026002C>A	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.153G>T	10.37:g.72026002C>A							p.A49A	NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN			1	153	-			51			Helical; Name=1; (Potential).		A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	c.147G>T	CCDS53539.1																																																																																				PASS	0.547	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		3	18	3	18	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75549948	75549948	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:75549948C>G	ENST00000605216.1	+	7	1056	c.839C>G	c.(838-840)tCa>tGa	p.S280*	ZSWIM8_ENST00000398706.2_Nonsense_Mutation_p.S280*|ZSWIM8_ENST00000604729.1_Nonsense_Mutation_p.S280*|ZSWIM8_ENST00000604524.1_Nonsense_Mutation_p.S280*|ZSWIM8_ENST00000603114.1_Nonsense_Mutation_p.S280*	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	280							zinc ion binding (GO:0008270)	p.S280*(2)									GCAGGGCCCTCAGCATCGGAC	0.532																																						uc009xrl.2																			2	Substitution - Nonsense(2)		lung(2)	breast(1)	1						c.(838-840)TCA>TGA		hypothetical protein LOC23053							88.0	90.0	90.0					10																	75549948		2015	4191	6206	SO:0001587	stop_gained	23053						zinc ion binding	g.chr10:75549948C>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.839C>G	10.37:g.75549948C>G	ENSP00000474748:p.Ser280*					KIAA0913_uc001jve.2_Nonsense_Mutation_p.S280*|KIAA0913_uc001jvf.2_Nonsense_Mutation_p.S280*|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	p.S280*	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			7	871	+	Prostate(51;0.0112)		280					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Nonsense_Mutation	SNP	ENST00000605216.1	37	c.839C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.804841|4.804841	0.90623|0.90623	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000451629|ENST00000398706	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.739627	.|0.11449	.|U	.|0.562977	T|.	0.77758|.	0.4178|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79876|.	-0.1618|.	3|.	.|0.72032	.|D	.|0.01	-4.9166|-4.9166	18.8288|18.8288	0.92128|0.92128	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	83|280	.|.	.|ENSP00000381693:S280X	Q|S	+|+	1|2	0|0	KIAA0913|KIAA0913	75219954|75219954	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.987000|0.987000	0.75469|0.75469	7.271000|7.271000	0.78506|0.78506	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.532	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		6	36	6	36	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75551984	75551984	+	Missense_Mutation	SNP	C	C	G	rs373447983		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:75551984C>G	ENST00000605216.1	+	10	1904	c.1687C>G	c.(1687-1689)Ccc>Gcc	p.P563A	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P563A|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.P563A|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P563A|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P563A|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	563	Gly-rich.						zinc ion binding (GO:0008270)	p.P563A(2)									ACAGCGGGGTCCCCGCCGCCT	0.657																																						uc009xrl.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1687-1689)CCC>GCC		hypothetical protein LOC23053							17.0	20.0	19.0					10																	75551984		1860	4029	5889	SO:0001583	missense	23053						zinc ion binding	g.chr10:75551984C>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1687C>G	10.37:g.75551984C>G	ENSP00000474748:p.Pro563Ala					KIAA0913_uc001jve.2_Missense_Mutation_p.P563A|KIAA0913_uc001jvf.2_Missense_Mutation_p.P563A|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_5'UTR|KIAA0913_uc010qkr.1_5'UTR|KIAA0913_uc001jvj.2_5'UTR	p.P563A	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			10	1719	+	Prostate(51;0.0112)		563			Gly-rich.		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.1687C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.998|0.998	-0.691868|-0.691868	0.03303|0.03303	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366	T|.	0.44083|.	0.93|.	5.55|5.55	4.52|4.52	0.55395|0.55395	.|.	0.703602|.	0.11662|.	U|.	0.541691|.	T|T	0.19685|0.19685	0.0473|0.0473	N|N	0.08118|0.08118	0|0	0.24839|0.24839	N|N	0.992479|0.992479	B;B;B|.	0.18166|.	0.026;0.015;0.026|.	B;B;B|.	0.19391|.	0.017;0.025;0.017|.	T|T	0.19418|0.19418	-1.0306|-1.0306	10|5	0.05525|.	T|.	0.97|.	-7.074|-7.074	8.9997|8.9997	0.36074|0.36074	0.0:0.8108:0.0:0.1892|0.0:0.8108:0.0:0.1892	.|.	563;563;563|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	A|C	563|285	ENSP00000381693:P563A|.	ENSP00000381693:P563A|.	P|S	+|+	1|2	0|0	KIAA0913|KIAA0913	75221990|75221990	0.897000|0.897000	0.30589|0.30589	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.431000|0.431000	0.21444|0.21444	1.328000|1.328000	0.45358|0.45358	0.655000|0.655000	0.94253|0.94253	CCC|TCC		PASS	0.657	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		6	28	6	28	---	---	---	---
CYP2C9	1559	broad.mit.edu	37	10	96745850	96745850	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:96745850C>A	ENST00000260682.6	+	8	1222	c.1210C>A	c.(1210-1212)Cca>Aca	p.P404T		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	404					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.P404T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATTTCCCAACCCAGAGATGTT	0.373																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)	6						c.(1210-1212)CCA>ACA		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						137.0	130.0	133.0					10																	96745850		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96745850C>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1210C>A	10.37:g.96745850C>A	ENSP00000260682:p.Pro404Thr					CYP2C9_uc009xut.2_Missense_Mutation_p.P402T	p.P404T	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	8	1235	+		Colorectal(252;0.0902)	404					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.1210C>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.389539	0.42410	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	D	0.87334	-2.24	3.57	1.35	0.21983	.	0.078629	0.51477	U	0.000084	D	0.94827	0.8329	H	0.96805	3.885	0.34437	D	0.699223	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96032	0.9017	10	0.87932	D	0	.	10.7722	0.46330	0.0:0.6328:0.3671:0.0	.	404;404	Q5VX92;P11712	.;CP2C9_HUMAN	T	404	ENSP00000260682:P404T	ENSP00000260682:P404T	P	+	1	0	CYP2C9	96735840	0.954000	0.32549	0.983000	0.44433	0.498000	0.33706	3.078000	0.50096	0.779000	0.33543	0.446000	0.29264	CCA		PASS	0.373	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		41	61	41	61	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98761031	98761031	+	Silent	SNP	G	G	A	rs555096209		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:98761031G>A	ENST00000266058.4	-	37	4688	c.4443C>T	c.(4441-4443)cgC>cgT	p.R1481R	SLIT1_ENST00000371070.4_Missense_Mutation_p.A1440V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1481	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R1481R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATGACAGGGGGCGCGTGGTCT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17503	0.001		0.0	False		,,,				2504	0.0					uc001kmw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(4441-4443)CGC>CGT		slit homolog 1 precursor							50.0	58.0	55.0					10																	98761031		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98761031G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4443C>T	10.37:g.98761031G>A							p.R1481R	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4695	-		Colorectal(252;0.162)	1481			CTCK.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.4443C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380958	0.42207	.	.	ENSG00000187122	ENST00000371070	T	0.80909	-1.43	5.09	2.16	0.27623	.	.	.	.	.	D	0.82536	0.5058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79305	-0.1858	6	0.44086	T	0.13	.	11.1737	0.48586	0.0734:0.4339:0.4926:0.0	.	.	.	.	V	1440	ENSP00000360109:A1440V	ENSP00000360109:A1440V	A	-	2	0	SLIT1	98751021	0.994000	0.37717	0.997000	0.53966	0.924000	0.55760	0.569000	0.23638	0.296000	0.22592	-1.064000	0.02280	GCC		PASS	0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		16	87	16	87	---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101148047	101148047	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:101148047C>A	ENST00000356713.4	+	9	2952	c.2663C>A	c.(2662-2664)cCc>cAc	p.P888H	CNNM1_ENST00000446890.1_Missense_Mutation_p.P817H|CNNM1_ENST00000370534.4_Missense_Mutation_p.P544H|CNNM1_ENST00000370528.3_Intron	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	888					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.P523H(1)|p.P888H(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)		GCAGCCGTTCCCACGAGAGCA	0.617																																						uc001kpp.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2662-2664)CCC>CAC		cyclin M1							31.0	29.0	29.0					10																	101148047		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101148047C>A	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.2663C>A	10.37:g.101148047C>A	ENSP00000349147:p.Pro888His					CNNM1_uc010qpi.1_Missense_Mutation_p.P909H|CNNM1_uc009xwf.2_Intron|CNNM1_uc009xwg.2_Missense_Mutation_p.P288H	p.P888H	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	9	2952	+		Colorectal(252;0.234)	888					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2663C>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221438	0.58560	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370534;ENST00000545665	T;T;T	0.80123	-1.34;-1.34;-1.34	4.67	4.67	0.58626	.	0.145790	0.31531	N	0.007488	T	0.78291	0.4260	N	0.24115	0.695	0.09310	N	1	D;D	0.76494	0.995;0.999	P;P	0.60415	0.874;0.867	T	0.67393	-0.5682	10	0.14252	T	0.57	-30.4168	13.4561	0.61199	0.0:1.0:0.0:0.0	.	544;888	F5H5J0;Q9NRU3	.;CNNM1_HUMAN	H	888;817;544;341	ENSP00000349147:P888H;ENSP00000406492:P817H;ENSP00000359565:P544H	ENSP00000349147:P888H	P	+	2	0	CNNM1	101138037	0.000000	0.05858	0.166000	0.22797	0.013000	0.08279	0.494000	0.22467	2.306000	0.77630	0.563000	0.77884	CCC		PASS	0.617	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		4	17	4	17	---	---	---	---
C10orf2	56652	broad.mit.edu	37	10	102749641	102749641	+	Splice_Site	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:102749641G>T	ENST00000311916.2	+	2	1669	c.1484G>T	c.(1483-1485)aGg>aTg	p.R495M	MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|C10orf2_ENST00000370228.1_Splice_Site_p.R495M|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	495	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.R495M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAAGCATCAGGTGAGACTCC	0.522																																						uc001ksf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1483-1485)AGG>ATG		twinkle isoform A							121.0	127.0	125.0					10																	102749641		2203	4300	6503	SO:0001630	splice_region_variant	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749641G>T	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1484+1G>T	10.37:g.102749641G>T						MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.R495M|C10orf2_uc001ksi.2_Missense_Mutation_p.R41M|C10orf2_uc010qpv.1_Missense_Mutation_p.R41M|C10orf2_uc001ksh.2_RNA	p.R495M	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	2159	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	495			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.1484G>T	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183901	0.38609	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.93953	-3.32;-3.32	5.65	1.75	0.24633	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.139273	0.64402	D	0.000004	D	0.91520	0.7322	L	0.27053	0.805	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.61201	0.855;0.885	D	0.89023	0.3436	10	0.59425	D	0.04	-17.6691	7.3897	0.26903	0.4666:0.0:0.5334:0.0	.	495;495	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	M	495	ENSP00000309595:R495M;ENSP00000359248:R495M	ENSP00000309595:R495M	R	+	2	0	C10orf2	102739631	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	5.174000	0.65015	0.429000	0.26202	-0.471000	0.05019	AGG		PASS	0.522	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830	Missense_Mutation	18	120	18	120	---	---	---	---
ITPRIP	85450	broad.mit.edu	37	10	106075072	106075072	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:106075072G>A	ENST00000337478.1	-	2	909	c.738C>T	c.(736-738)gtC>gtT	p.V246V	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.V246V|ITPRIP_ENST00000358187.2_Silent_p.V246V	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	246						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V246V(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CATCGGCGCGGACCACCTTGA	0.657																																						uc001kye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(736-738)GTC>GTT		inositol 1,4,5-triphosphate receptor interacting							40.0	41.0	40.0					10																	106075072		2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106075072G>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.738C>T	10.37:g.106075072G>A						ITPRIP_uc001kyf.2_Silent_p.V246V|ITPRIP_uc001kyg.2_Silent_p.V246V	p.V246V	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	811	-			246					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.738C>T	CCDS7557.1																																																																																				PASS	0.657	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		20	22	20	22	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118196264	118196264	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:118196264G>C	ENST00000369230.3	+	2	237	c.91G>C	c.(91-93)Ggt>Cgt	p.G31R		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	31					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.G31R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCAAAGATGGTTTACCATG	0.448																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)GGT>CGT		pancreatic lipase-related protein 3 precursor							165.0	154.0	158.0					10																	118196264		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118196264G>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.91G>C	10.37:g.118196264G>C	ENSP00000358232:p.Gly31Arg						p.G31R	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	2	192	+			31						Missense_Mutation	SNP	ENST00000369230.3	37	c.91G>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743563	0.30865	.	.	ENSG00000203837	ENST00000369230	D	0.89810	-2.57	4.56	2.68	0.31781	Lipase, N-terminal (1);	0.441053	0.18210	N	0.148228	D	0.84275	0.5436	L	0.51422	1.61	0.09310	N	0.999999	B	0.24882	0.113	B	0.29716	0.106	T	0.73736	-0.3889	10	0.41790	T	0.15	.	6.9789	0.24692	0.3714:0.0:0.6286:0.0	.	31	Q17RR3	LIPR3_HUMAN	R	31	ENSP00000358232:G31R	ENSP00000358232:G31R	G	+	1	0	PNLIPRP3	118186254	0.036000	0.19791	0.025000	0.17156	0.279000	0.26890	0.474000	0.22148	0.603000	0.29913	0.650000	0.86243	GGT		PASS	0.448	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		12	73	12	73	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119044594	119044594	+	Silent	SNP	G	G	A	rs369780916		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:119044594G>A	ENST00000334464.5	-	5	1889	c.1650C>T	c.(1648-1650)caC>caT	p.H550H	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	550					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.H550H(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTGGTAGTGGGTGACTTCCTA	0.413																																						uc001lde.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1648-1650)CAC>CAT		PDZ domain containing 8							153.0	151.0	152.0					10																	119044594		2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119044594G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1650C>T	10.37:g.119044594G>A							p.H550H	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	1849	-		Colorectal(252;0.19)	550					Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.1650C>T	CCDS7600.1																																																																																				PASS	0.413	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		77	89	77	89	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121692597	121692597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:121692597C>T	ENST00000369075.3	+	17	2911	c.2839C>T	c.(2839-2841)Cga>Tga	p.R947*	SEC23IP_ENST00000543134.1_Nonsense_Mutation_p.R736*|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	947	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R947*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGGAGGCCGCCGAATTGACTA	0.363																																						uc001leu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(2839-2841)CGA>TGA		Sec23-interacting protein p125							97.0	97.0	97.0					10																	121692597		2203	4300	6503	SO:0001587	stop_gained	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121692597C>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2839C>T	10.37:g.121692597C>T	ENSP00000358071:p.Arg947*					SEC23IP_uc010qtc.1_Nonsense_Mutation_p.R736*|SEC23IP_uc009xzk.1_RNA	p.R947*	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	17	2911	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	947			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Nonsense_Mutation	SNP	ENST00000369075.3	37	c.2839C>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	39	7.724836	0.98456	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	.	.	.	5.28	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3306	14.2269	0.65866	0.0:0.9274:0.0:0.0726	.	.	.	.	X	947;736	.	ENSP00000358071:R947X	R	+	1	2	SEC23IP	121682587	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	3.726000	0.54977	1.361000	0.45981	-0.140000	0.14226	CGA		PASS	0.363	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			35	32	35	32	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123985957	123985957	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:123985957C>T	ENST00000369005.1	+	13	8025	c.7685C>T	c.(7684-7686)tCt>tTt	p.S2562F	TACC2_ENST00000515273.1_Missense_Mutation_p.S2566F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2562F|TACC2_ENST00000513429.1_Missense_Mutation_p.S708F|TACC2_ENST00000369001.1_Missense_Mutation_p.S266F|TACC2_ENST00000358010.1_Missense_Mutation_p.S708F|TACC2_ENST00000368999.1_Missense_Mutation_p.S652F|TACC2_ENST00000453444.2_Missense_Mutation_p.S2566F|TACC2_ENST00000515603.1_Missense_Mutation_p.S2517F|TACC2_ENST00000369000.1_Missense_Mutation_p.S262F|TACC2_ENST00000260733.3_Missense_Mutation_p.S640F|TACC2_ENST00000360561.3_Missense_Mutation_p.S640F|TACC2_ENST00000369004.3_Missense_Mutation_p.S652F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2562					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.S2562F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCAAGTCATCTCCCGTCCGC	0.517																																						uc001lfv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(7684-7686)TCT>TTT		transforming, acidic coiled-coil containing							139.0	108.0	118.0					10																	123985957		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123985957C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7685C>T	10.37:g.123985957C>T	ENSP00000358001:p.Ser2562Phe					TACC2_uc001lfw.2_Missense_Mutation_p.S708F|TACC2_uc009xzx.2_Missense_Mutation_p.S2517F|TACC2_uc010qtv.1_Missense_Mutation_p.S2566F|TACC2_uc001lfx.2_Missense_Mutation_p.S266F|TACC2_uc001lfy.2_Missense_Mutation_p.S262F|TACC2_uc001lfz.2_Missense_Mutation_p.S640F|TACC2_uc001lga.2_Missense_Mutation_p.S640F|TACC2_uc009xzy.2_Missense_Mutation_p.S652F|TACC2_uc001lgb.2_Missense_Mutation_p.S597F|TACC2_uc010qtw.1_Missense_Mutation_p.S657F	p.S2562F	NM_206862	NP_996744	O95359	TACC2_HUMAN			13	8045	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2562					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7685C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785370	0.31593	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.19532	3.99;3.56;4.0;4.0;3.99;3.56;4.0;2.15;2.14;3.45;3.45;3.46;3.45;3.03;2.45	5.39	4.49	0.54785	.	0.507401	0.14907	N	0.291473	T	0.19525	0.0469	N	0.14661	0.345	0.29348	N	0.865541	P;B;P;B;B;B;B;B;P;B	0.45176	0.852;0.375;0.523;0.375;0.375;0.343;0.222;0.222;0.725;0.375	P;B;B;B;B;B;B;B;P;B	0.46940	0.501;0.332;0.165;0.332;0.332;0.404;0.26;0.189;0.532;0.281	T	0.06250	-1.0837	10	0.59425	D	0.04	-1.3395	14.5158	0.67818	0.0:0.929:0.0:0.071	.	657;2566;652;2517;2566;640;640;262;708;2562	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	F	2562;708;2566;2517;2562;708;2566;2552;266;262;640;652;652;640;657;297	ENSP00000358001:S2562F;ENSP00000425062:S708F;ENSP00000424467:S2566F;ENSP00000427618:S2517F;ENSP00000334280:S2562F;ENSP00000350701:S708F;ENSP00000395048:S2566F;ENSP00000357997:S266F;ENSP00000357996:S262F;ENSP00000353763:S640F;ENSP00000357995:S652F;ENSP00000422815:S652F;ENSP00000260733:S640F;ENSP00000420967:S657F;ENSP00000422725:S297F	ENSP00000260733:S640F	S	+	2	0	TACC2	123975947	1.000000	0.71417	0.643000	0.29450	0.035000	0.12851	3.918000	0.56432	1.399000	0.46721	0.655000	0.94253	TCT		PASS	0.517	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			5	19	5	19	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128193390	128193390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:128193390C>A	ENST00000284694.7	-	3	499	c.379G>T	c.(379-381)Gag>Tag	p.E127*	C10orf90_ENST00000544758.1_Nonsense_Mutation_p.E224*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.E80*|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Nonsense_Mutation_p.E80*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.E127*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	127	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E127*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAGGGTCTCTCCTCTTTGGGC	0.642											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ljq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(379-381)GAG>TAG		hypothetical protein LOC118611							41.0	41.0	41.0					10																	128193390		2201	4297	6498	SO:0001587	stop_gained	118611							g.chr10:128193390C>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.379G>T	10.37:g.128193390C>A	ENSP00000284694:p.Glu127*		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Nonsense_Mutation_p.E80*|C10orf90_uc010qum.1_Nonsense_Mutation_p.E224*|C10orf90_uc009yao.2_Nonsense_Mutation_p.E224*|C10orf90_uc001ljs.1_Nonsense_Mutation_p.E80*	p.E127*	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	500	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	127					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Nonsense_Mutation	SNP	ENST00000284694.7	37	c.379G>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	41	8.920739	0.99004	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	.	.	.	4.65	1.74	0.24563	.	2.858970	0.00873	N	0.002048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.8267	4.9738	0.14129	0.0:0.5927:0.154:0.2532	.	.	.	.	X	80;127;127;224;127;80;80	.	ENSP00000284694:E127X	E	-	1	0	C10orf90	128183380	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.020000	0.13466	0.195000	0.20347	-0.232000	0.12228	GAG		PASS	0.642	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		35	44	35	44	---	---	---	---
STK32C	282974	broad.mit.edu	37	10	134036456	134036456	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:134036456C>A	ENST00000368622.1	-	9	1058	c.677G>T	c.(676-678)aGc>aTc	p.S226I	STK32C_ENST00000368625.4_Missense_Mutation_p.S356I					serine/threonine kinase 32C									p.S343I(1)|p.S356I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GTCCTGGAGGCTGGAGAGCCG	0.687																																						uc001lle.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|lung(2)|breast(1)	5						c.(1027-1029)AGC>ATC		serine/threonine kinase 32C							13.0	17.0	15.0					10																	134036456		2152	4241	6393	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134036456C>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.677G>T	10.37:g.134036456C>A	ENSP00000357611:p.Ser226Ile					STK32C_uc001lld.1_Missense_Mutation_p.S226I|STK32C_uc010quu.1_Missense_Mutation_p.S356I|STK32C_uc001llb.2_Missense_Mutation_p.S114I|STK32C_uc001llc.1_RNA	p.S343I	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	9	1168	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	343			Protein kinase.			Missense_Mutation	SNP	ENST00000368622.1	37	c.1028G>T		.	.	.	.	.	.	.	.	.	.	C	19.14	3.770045	0.69992	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.62788	-0.0;-0.0;-0.0	3.89	3.89	0.44902	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.161017	0.40222	U	0.001148	T	0.68476	0.3005	L	0.42529	1.33	0.51482	D	0.999928	P;P;P	0.50443	0.935;0.873;0.85	P;P;B	0.56788	0.806;0.733;0.246	T	0.72962	-0.4132	10	0.62326	D	0.03	.	16.1003	0.81167	0.0:1.0:0.0:0.0	.	356;343;226	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	I	226;343;356	ENSP00000357611:S226I;ENSP00000298630:S343I;ENSP00000357614:S356I	ENSP00000298630:S343I	S	-	2	0	STK32C	133886446	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	4.967000	0.63722	2.040000	0.60383	0.479000	0.44913	AGC		PASS	0.687	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		4	1	4	1	---	---	---	---
NKX6-2	84504	broad.mit.edu	37	10	134598853	134598853	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:134598853G>T	ENST00000368592.5	-	2	613	c.510C>A	c.(508-510)acC>acA	p.T170T	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	170					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T170T(1)		endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CCAGGTACTTGGTCTGCTCGA	0.687																																						uc001llr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(508-510)ACC>ACA		NK6 transcription factor related, locus 2							21.0	27.0	25.0					10																	134598853		2175	4280	6455	SO:0001819	synonymous_variant	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598853G>T	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"""Homeoboxes / ANTP class : NKL subclass"""	19321	protein-coding gene	gene with protein product		605955	"""NK6 transcription factor related, locus 2 (Drosophila)"""			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.510C>A	10.37:g.134598853G>T							p.T170T	NM_177400	NP_796374	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	2	595	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	170			Homeobox.		Q5JSF3	Silent	SNP	ENST00000368592.5	37	c.510C>A	CCDS7670.1																																																																																				PASS	0.687	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			3	9	3	9	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1097290	1097290	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:1097290G>T	ENST00000441003.2	+	35	6733	c.6706G>T	c.(6706-6708)Gtc>Ttc	p.V2236F	MUC2_ENST00000361558.6_Missense_Mutation_p.V374F	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4598					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.V2236F(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGTGTCCTCGTCTCCTACAA	0.612																																						uc001lsx.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(13792-13794)GTC>TTC		mucin 2 precursor	Pranlukast(DB01411)						86.0	99.0	95.0					11																	1097290		2154	4239	6393	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1097290G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6706G>T	11.37:g.1097290G>T	ENSP00000415183:p.Val2236Phe						p.V4598F	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	38	13819	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4598			VWFD 4.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.13792G>T		.	.	.	.	.	.	.	.	.	.	g	10.95	1.496235	0.26861	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.58940	0.3;0.3	3.53	-3.41	0.04839	.	.	.	.	.	T	0.67804	0.2932	M	0.66297	2.02	0.09310	N	1	D	0.60160	0.987	D	0.64237	0.923	T	0.63769	-0.6562	9	0.52906	T	0.07	.	11.7927	0.52078	0.3957:0.0:0.6043:0.0	.	2236	E7EUV1	.	F	2236;374	ENSP00000415183:V2236F;ENSP00000354885:V374F	ENSP00000354885:V374F	V	+	1	0	MUC2	1087290	0.000000	0.05858	0.005000	0.12908	0.263000	0.26337	-0.234000	0.09028	-0.721000	0.04929	0.561000	0.74099	GTC		PASS	0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		13	18	13	18	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265969	1265969	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:1265969C>A	ENST00000529681.1	+	31	7917	c.7859C>A	c.(7858-7860)cCc>cAc	p.P2620H	MUC5B_ENST00000447027.1_Missense_Mutation_p.P2623H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2620	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2620H(1)|p.P2599H(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCCACCCCCTCCTCCAGC	0.652																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(9772-9774)CCC>CAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							130.0	163.0	152.0					11																	1265969		2112	4226	6338	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265969C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7859C>A	11.37:g.1265969C>A	ENSP00000436812:p.Pro2620His					MUC5B_uc001ltb.2_Missense_Mutation_p.P2623H	p.P3258H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	9899	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2620	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.9773C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	0.934	-0.711695	0.03206	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.23147	1.92;2.11	1.31	-1.7	0.08159	.	.	.	.	.	T	0.18593	0.0446	L	0.53249	1.67	0.09310	N	1	D;D	0.54964	0.969;0.969	B;B	0.41332	0.354;0.265	T	0.15521	-1.0434	9	0.87932	D	0	.	1.0071	0.01489	0.243:0.3862:0.2096:0.1612	.	3258;2623	A7Y9J9;E9PBJ0	.;.	H	2620;2623;2592;2635;161	ENSP00000436812:P2620H;ENSP00000415793:P2623H	ENSP00000343037:P2592H	P	+	2	0	MUC5B	1222545	.	.	0.000000	0.03702	0.022000	0.10575	.	.	-0.518000	0.06452	0.205000	0.17691	CCC		PASS	0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	27	25	27	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967860	4967860	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:4967860C>T	ENST00000380373.2	-	1	496	c.471G>A	c.(469-471)ctG>ctA	p.L157L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L157L(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGAAGAACCAGGAGCATGC	0.438																																						uc010qys.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(469-471)CTG>CTA		olfactory receptor, family 51, subfamily A,							181.0	176.0	177.0					11																	4967860		2191	4266	6457	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967860C>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.471G>A	11.37:g.4967860C>T							p.L157L	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	471	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	157			Helical; Name=4; (Potential).			Silent	SNP	ENST00000380373.2	37	c.471G>A	CCDS31367.1																																																																																				PASS	0.438	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		16	50	16	50	---	---	---	---
OR51A2	401667	broad.mit.edu	37	11	4976473	4976473	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:4976473C>T	ENST00000380371.1	-	1	470	c.471G>A	c.(469-471)ctG>ctA	p.L157L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L157L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGAAGAACCAGGAGCATGC	0.438																																						uc010qyt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(469-471)CTG>CTA		olfactory receptor, family 51, subfamily A,							120.0	104.0	109.0					11																	4976473		2071	3895	5966	SO:0001819	synonymous_variant	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976473C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.471G>A	11.37:g.4976473C>T							p.L157L	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	471	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	157			Helical; Name=4; (Potential).			Silent	SNP	ENST00000380371.1	37	c.471G>A	CCDS31368.1																																																																																				PASS	0.438	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		34	163	34	163	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5013285	5013285	+	Silent	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:5013285T>A	ENST00000380390.1	+	6	903	c.687T>A	c.(685-687)acT>acA	p.T229T	MMP26_ENST00000300762.1_Silent_p.T229T			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	229					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T229T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TGTACCCCACTTACTGGTATC	0.468																																						uc001lzv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)ACT>ACA		matrix metalloproteinase 26 preproprotein							82.0	75.0	77.0					11																	5013285		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013285T>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.687T>A	11.37:g.5013285T>A							p.T229T	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	705	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	229					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.687T>A	CCDS7752.1																																																																																				PASS	0.468	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		11	24	11	24	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6245432	6245432	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:6245432C>G	ENST00000449352.2	-	3	448	c.185G>C	c.(184-186)gGt>gCt	p.G62A	FAM160A2_ENST00000524416.1_Missense_Mutation_p.G62A|FAM160A2_ENST00000265978.4_Missense_Mutation_p.G62A			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	62					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.G62A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCGTCTGCACCCCCAGGAGC	0.572																																						uc001mcl.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(184-186)GGT>GCT		hypothetical protein LOC84067 isoform 2							47.0	47.0	47.0					11																	6245432		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245432C>G		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.185G>C	11.37:g.6245432C>G	ENSP00000416918:p.Gly62Ala					FAM160A2_uc001mck.3_Missense_Mutation_p.G62A|FAM160A2_uc001mcm.2_Missense_Mutation_p.G62A	p.G62A	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			3	544	-			62					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.185G>C	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854980	0.32791	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.14266	3.12;3.13;2.52	4.45	4.45	0.53987	.	0.329760	0.28796	N	0.014105	T	0.07638	0.0192	N	0.08118	0	0.35440	D	0.794818	B;B;P	0.37955	0.024;0.006;0.612	B;B;B	0.39503	0.014;0.008;0.301	T	0.25117	-1.0141	10	0.08381	T	0.77	-17.2555	14.6554	0.68828	0.0:1.0:0.0:0.0	.	62;62;62	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	A	62	ENSP00000416918:G62A;ENSP00000265978:G62A;ENSP00000431773:G62A	ENSP00000265978:G62A	G	-	2	0	FAM160A2	6202008	0.925000	0.31364	1.000000	0.80357	0.997000	0.91878	4.234000	0.58658	2.320000	0.78422	0.655000	0.94253	GGT		PASS	0.572	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		15	29	15	29	---	---	---	---
SMPD1	6609	broad.mit.edu	37	11	6412809	6412809	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:6412809A>G	ENST00000342245.4	+	2	682	c.514A>G	c.(514-516)Att>Gtt	p.I172V	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Missense_Mutation_p.I172V|SMPD1_ENST00000356761.2_Missense_Mutation_p.I172V|SMPD1_ENST00000527275.1_Missense_Mutation_p.I171V	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	170					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.I172V(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	GCACTGGGACATTTTCTCATC	0.617																																						uc001mcw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(514-516)ATT>GTT		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)						55.0	51.0	53.0					11																	6412809		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412809A>G	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.514A>G	11.37:g.6412809A>G	ENSP00000340409:p.Ile172Val					SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.I172V|SMPD1_uc009yew.2_Missense_Mutation_p.I171V	p.I172V	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	688	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	170					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.514A>G	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	A	5.679	0.309866	0.10733	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.11	2.66	0.31614	Saposin-like (1);	0.341492	0.28560	N	0.014910	D	0.93151	0.7819	L	0.59436	1.845	0.42975	D	0.994445	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.13407	0.005;0.009;0.002	D	0.86533	0.1823	10	0.30078	T	0.28	-27.641	7.2443	0.26114	0.7891:0.0:0.2109:0.0	.	171;172;170	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	V	172;172;172;171	ENSP00000299397:I172V;ENSP00000349203:I172V;ENSP00000340409:I172V;ENSP00000435350:I171V	ENSP00000299397:I172V	I	+	1	0	SMPD1	6369385	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.008000	0.40893	0.268000	0.21939	0.528000	0.53228	ATT		PASS	0.617	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		6	1	6	1	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898584	6898584	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:6898584C>T	ENST00000379829.2	+	1	729	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	236					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H236Y(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGGGAAACATCAGGCATT	0.517																																						uc010rat.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)CAT>TAT		olfactory receptor, family 10, subfamily A,							208.0	154.0	173.0					11																	6898584		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898584C>T	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.706C>T	11.37:g.6898584C>T	ENSP00000369157:p.His236Tyr						p.H236Y	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	706	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	236			Cytoplasmic (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.706C>T	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	c	4.222	0.039990	0.08148	.	.	ENSG00000170782	ENST00000379829	T	0.00207	8.55	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.539992	0.15979	N	0.235406	T	0.00210	0.0006	L	0.31120	0.905	0.09310	N	0.999998	B	0.33318	0.408	B	0.42343	0.384	T	0.62397	-0.6863	10	0.26408	T	0.33	.	15.289	0.73852	0.0:1.0:0.0:0.0	.	236	Q9H209	O10A4_HUMAN	Y	236	ENSP00000369157:H236Y	ENSP00000369157:H236Y	H	+	1	0	OR10A4	6855160	0.001000	0.12720	0.605000	0.28930	0.141000	0.21300	0.868000	0.27982	2.535000	0.85469	0.651000	0.88453	CAT		PASS	0.517	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		22	30	22	30	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7081200	7081200	+	Silent	SNP	G	G	T	rs200194625		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:7081200G>T	ENST00000299481.4	+	9	3055	c.2709G>T	c.(2707-2709)acG>acT	p.T903T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	903					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.T903T(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGAGCCTGACGCATCTGGATC	0.453																																						uc001mfb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2707-2709)ACG>ACT		NLR family, pyrin domain containing 14							181.0	169.0	173.0					11																	7081200		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081200G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2709G>T	11.37:g.7081200G>T							p.T903T	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3032	+			903			LRR 7.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.2709G>T	CCDS7776.1																																																																																				PASS	0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		21	82	21	82	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7981634	7981634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:7981634C>A	ENST00000328600.2	-	2	1686	c.1525G>T	c.(1525-1527)Gag>Tag	p.E509*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	509					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.E509*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGGTCATCTCATCATTCCCT	0.493																																						uc001mfv.1																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1525-1527)GAG>TAG		NLR family, pyrin domain containing 10							100.0	95.0	97.0					11																	7981634		2201	4296	6497	SO:0001587	stop_gained	338322						ATP binding	g.chr11:7981634C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1525G>T	11.37:g.7981634C>A	ENSP00000327763:p.Glu509*						p.E509*	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1542	-			509					Q2M3C4|Q6JGT0	Nonsense_Mutation	SNP	ENST00000328600.2	37	c.1525G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069575	0.93950	.	.	ENSG00000182261	ENST00000328600	.	.	.	4.58	2.64	0.31445	.	0.393190	0.18723	N	0.132961	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.3151	0.21186	0.0:0.7093:0.1873:0.1034	.	.	.	.	X	509	.	ENSP00000327763:E509X	E	-	1	0	NLRP10	7938210	0.000000	0.05858	0.018000	0.16275	0.054000	0.15201	0.013000	0.13310	0.465000	0.27167	0.563000	0.77884	GAG		PASS	0.493	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		23	32	23	32	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10527417	10527417	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:10527417G>T	ENST00000396554.3	+	15	2658	c.2317G>T	c.(2317-2319)Gcc>Tcc	p.A773S	AMPD3_ENST00000444303.2_Missense_Mutation_p.A605S	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	764					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.A773S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAGATCACCGCCTTGACCAA	0.433																																						uc001mio.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2290-2292)GCC>TCC		adenosine monophosphate deaminase 3 isoform 1B							130.0	119.0	123.0					11																	10527417		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10527417G>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.2317G>T	11.37:g.10527417G>T	ENSP00000379802:p.Ala773Ser					AMPD3_uc010rbz.1_Missense_Mutation_p.A605S|AMPD3_uc001min.1_Missense_Mutation_p.A773S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.A771S|AMPD3_uc009yfy.2_Missense_Mutation_p.A764S	p.A764S	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	15	2625	+			764					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.2290G>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	8.899	0.955952	0.18507	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;T;T;T;T	0.85411	-1.98;-1.44;-1.43;-1.44;-1.43	5.73	4.82	0.62117	.	0.348947	0.29948	N	0.010793	T	0.69424	0.3109	N	0.11927	0.2	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.001;0.004;0.002	T	0.52616	-0.8552	10	0.13853	T	0.58	-7.0856	9.694	0.40145	0.1698:0.0:0.8302:0.0	.	771;764;773	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	S	605;773;764;771;764	ENSP00000396000:A605S;ENSP00000379802:A773S;ENSP00000379801:A764S;ENSP00000436987:A771S;ENSP00000431648:A764S	ENSP00000379801:A764S	A	+	1	0	AMPD3	10483993	0.414000	0.25408	0.586000	0.28679	0.156000	0.22039	2.854000	0.48325	1.431000	0.47355	0.650000	0.86243	GCC		PASS	0.433	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		22	25	22	25	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22297660	22297660	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:22297660C>T	ENST00000324559.8	+	21	2752	c.2435C>T	c.(2434-2436)cCt>cTt	p.P812L	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	812					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P812L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAGATATCCTCCTGATGAC	0.323																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(2434-2436)CCT>CTT		anoctamin 5 isoform a							93.0	86.0	88.0					11																	22297660		2203	4296	6499	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22297660C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2435C>T	11.37:g.22297660C>T	ENSP00000315371:p.Pro812Leu					ANO5_uc001mqj.2_Missense_Mutation_p.P811L	p.P812L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			21	2752	+			812			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.2435C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279996	0.80692	.	.	ENSG00000171714	ENST00000324559	T	0.74002	-0.8	4.96	4.96	0.65561	.	0.098090	0.64402	D	0.000001	D	0.88851	0.6549	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.91249	0.5028	10	0.87932	D	0	.	18.5613	0.91101	0.0:1.0:0.0:0.0	.	812	Q75V66	ANO5_HUMAN	L	812	ENSP00000315371:P812L	ENSP00000315371:P812L	P	+	2	0	ANO5	22254236	1.000000	0.71417	0.982000	0.44146	0.583000	0.36354	7.752000	0.85141	2.465000	0.83290	0.555000	0.69702	CCT		PASS	0.323	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		16	41	16	41	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31086643	31086643	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:31086643T>C	ENST00000597505.1	-	17	2355	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.T405A(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)					TCTGTCTGGGTCACATCTACT	0.448																																						uc009yjk.1																			1	Substitution - Missense(1)		lung(1)								c.(700-702)ACC>GCC		RecName: Full=Doublecortin domain-containing protein 5;							111.0	101.0	104.0					11																	31086643		1944	4152	6096	SO:0001583	missense	0							g.chr11:31086643T>C	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	ENST00000597505.1:c.2356A>G	11.37:g.31086643T>C	ENSP00000472625:p.Thr786Ala					uc009yjl.1_Missense_Mutation_p.T162A|DCDC1_uc001msu.1_Missense_Mutation_p.T405A	p.T234A							7	769	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.700A>G																																																																																					PASS	0.448	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		4	34	4	34	---	---	---	---
C11orf74	119710	broad.mit.edu	37	11	36669697	36669697	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:36669697A>T	ENST00000334307.5	+	5	605	c.490A>T	c.(490-492)Acg>Tcg	p.T164S	C11orf74_ENST00000534635.1_Missense_Mutation_p.T90S|C11orf74_ENST00000347206.4_Missense_Mutation_p.T90S|C11orf74_ENST00000446510.2_Missense_Mutation_p.T164S	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	164								p.T164S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GGACAAACAGACGGAAGAGGT	0.448																																						uc001mwy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)ACG>TCG		hypothetical protein LOC119710							107.0	100.0	102.0					11																	36669697		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36669697A>T	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.490A>T	11.37:g.36669697A>T	ENSP00000334848:p.Thr164Ser					C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.T90S|C11orf74_uc001mwx.1_RNA|C11orf74_uc001mwz.1_Missense_Mutation_p.T90S|C11orf74_uc010rfe.1_RNA	p.T164S	NM_138787	NP_620142	Q86VG3	CK074_HUMAN			5	563	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	164					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.490A>T	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	A	6.454	0.451826	0.12283	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000527108	.	.	.	5.69	-1.49	0.08718	.	1.664020	0.02811	N	0.124303	T	0.28764	0.0713	L	0.27053	0.805	0.09310	N	1	B;B	0.14805	0.006;0.011	B;B	0.12837	0.005;0.008	T	0.12041	-1.0563	8	.	.	.	12.1794	6.0626	0.19846	0.4919:0.0:0.3764:0.1317	.	164;90	Q86VG3;Q86VG3-2	CK074_HUMAN;.	S	164;164;90;90;164;90	.	.	T	+	1	0	C11orf74	36626273	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.497000	0.22514	-0.094000	0.12374	-0.250000	0.11733	ACG		PASS	0.448	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		46	48	46	48	---	---	---	---
DGKZ	8525	broad.mit.edu	37	11	46399764	46399764	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:46399764G>T	ENST00000454345.1	+	27	3048	c.2923G>T	c.(2923-2925)Gct>Tct	p.A975S	DGKZ_ENST00000395574.3_Missense_Mutation_p.A753S|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791S|MDK_ENST00000405308.2_5'Flank|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565S|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786S|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139S|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787S|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803S|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764S|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	975					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.A803S(1)|p.A975S(1)|p.A787S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCAAGGGGATGCTGCACCCCC	0.652																																						uc001ncn.1																			3	Substitution - Missense(3)		lung(3)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(2923-2925)GCT>TCT		diacylglycerol kinase zeta isoform 4							49.0	43.0	45.0					11																	46399764		2197	4296	6493	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46399764G>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2923G>T	11.37:g.46399764G>T	ENSP00000412178:p.Ala975Ser					DGKZ_uc001nch.1_Missense_Mutation_p.A803S|DGKZ_uc010rgq.1_Missense_Mutation_p.A730S|DGKZ_uc001ncj.1_Missense_Mutation_p.A753S|DGKZ_uc010rgr.1_Missense_Mutation_p.A752S|DGKZ_uc001nck.1_Missense_Mutation_p.A565S|DGKZ_uc001ncl.2_Missense_Mutation_p.A787S|DGKZ_uc001ncm.2_Missense_Mutation_p.A786S|DGKZ_uc009yky.1_Missense_Mutation_p.A787S|DGKZ_uc010rgs.1_Missense_Mutation_p.A764S|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank	p.A975S	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	27	3048	+			975					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2923G>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	6.247	0.413628	0.11812	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.23552	2.44;2.62;2.61;2.67;2.88;3.61;2.43;2.49;2.62;1.9	3.71	0.635	0.17723	.	0.914548	0.09154	U	0.841129	T	0.12561	0.0305	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.23058	0.001;0.004;0.001;0.0;0.001;0.002;0.003;0.079;0.001	B;B;B;B;B;B;B;B;B	0.21546	0.001;0.004;0.001;0.001;0.003;0.001;0.005;0.035;0.004	T	0.36261	-0.9755	10	0.07325	T	0.83	.	3.5133	0.07716	0.2173:0.0:0.5862:0.1965	.	764;752;730;787;975;786;787;753;803	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	S	803;565;753;752;139;787;786;787;764;975	ENSP00000343065:A803S;ENSP00000434719:A565S;ENSP00000378941:A753S;ENSP00000436273:A752S;ENSP00000438417:A139S;ENSP00000436291:A787S;ENSP00000395684:A786S;ENSP00000391021:A787S;ENSP00000320340:A764S;ENSP00000412178:A975S	ENSP00000320340:A764S	A	+	1	0	DGKZ	46356340	0.000000	0.05858	0.021000	0.16686	0.111000	0.19643	0.112000	0.15479	0.156000	0.19299	0.561000	0.74099	GCT		PASS	0.652	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		3	11	3	11	---	---	---	---
OR4X1	390113	broad.mit.edu	37	11	48285559	48285559	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:48285559C>A	ENST00000320048.1	+	1	147	c.147C>A	c.(145-147)gcC>gcA	p.A49A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A49A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCATCCTGGCCAGCAAAGTGC	0.493																																						uc010rht.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(145-147)GCC>GCA		olfactory receptor, family 4, subfamily X,							173.0	154.0	160.0					11																	48285559		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285559C>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.147C>A	11.37:g.48285559C>A							p.A49A	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	147	+			49			Cytoplasmic (Potential).		Q6IF74	Silent	SNP	ENST00000320048.1	37	c.147C>A	CCDS31487.1																																																																																				PASS	0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		7	43	7	43	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55340018	55340018	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:55340018T>C	ENST00000314634.3	+	1	415	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C139R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCAGTGGGTCTGTGGTGTTTT	0.512																																						uc010rih.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(415-417)TGT>CGT		olfactory receptor, family 4, subfamily C,							173.0	162.0	166.0					11																	55340018		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340018T>C	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.415T>C	11.37:g.55340018T>C	ENSP00000324913:p.Cys139Arg						p.C139R	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	415	+		all_epithelial(135;0.0748)	139			Helical; Name=4; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.415T>C	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	9.994	1.231716	0.22626	.	.	ENSG00000181935	ENST00000314634	T	0.00241	8.46	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.00637	0.0021	M	0.87827	2.91	0.21604	N	0.999621	D	0.89917	1.0	D	0.97110	1.0	T	0.36939	-0.9727	10	0.66056	D	0.02	.	12.6625	0.56822	0.0:0.0:0.0:1.0	.	139	Q8NGL9	OR4CG_HUMAN	R	139	ENSP00000324913:C139R	ENSP00000324913:C139R	C	+	1	0	OR4C16	55096594	0.794000	0.28838	0.264000	0.24511	0.067000	0.16453	1.618000	0.36954	2.097000	0.63578	0.448000	0.29417	TGT		PASS	0.512	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		29	87	29	87	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872966	55872966	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:55872966G>T	ENST00000313503.1	+	1	448	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V150L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGGGCCTTATGTGATTGGCTT	0.458										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(448-450)GTG>TTG		olfactory receptor, family 8, subfamily H,							217.0	195.0	202.0					11																	55872966		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872966G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.448G>T	11.37:g.55872966G>T	ENSP00000323982:p.Val150Leu	HNSCC(53;0.14)					p.V150L	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	448	+	Esophageal squamous(21;0.00693)		150			Helical; Name=4; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.448G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	5.807	0.333241	0.11013	.	.	ENSG00000181767	ENST00000313503	T	0.35236	1.32	3.35	-6.71	0.01760	GPCR, rhodopsin-like superfamily (1);	1.145600	0.06517	N	0.739019	T	0.10594	0.0259	N	0.03917	-0.325	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.21314	-1.0249	10	0.11182	T	0.66	.	0.2353	0.00185	0.2369:0.1844:0.2623:0.3164	.	150	Q8N162	OR8H2_HUMAN	L	150	ENSP00000323982:V150L	ENSP00000323982:V150L	V	+	1	0	OR8H2	55629542	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.937000	0.00027	-1.916000	0.01075	-0.423000	0.05987	GTG		PASS	0.458	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		82	92	82	92	---	---	---	---
OR9Q1	219956	broad.mit.edu	37	11	57947063	57947063	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:57947063C>A	ENST00000335397.3	+	3	463	c.147C>A	c.(145-147)atC>atA	p.I49I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I49I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTATTCTGATCCTCATGGATC	0.453																																						uc001nmj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(145-147)ATC>ATA		olfactory receptor, family 9, subfamily Q,							258.0	237.0	244.0					11																	57947063		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947063C>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.147C>A	11.37:g.57947063C>A							p.I49I	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	463	+		Breast(21;0.222)	49			Cytoplasmic (Potential).		Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.147C>A	CCDS31543.1																																																																																				PASS	0.453	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		31	106	31	106	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958292	57958292	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:57958292C>A	ENST00000311591.3	+	1	387	c.330C>A	c.(328-330)atC>atA	p.I110I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I110I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TTGCCTCCATCGACTGCTACC	0.592																																						uc010rka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(328-330)ATC>ATA		olfactory receptor, family 9, subfamily Q,							190.0	151.0	164.0					11																	57958292		2201	4296	6497	SO:0001819	synonymous_variant	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958292C>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.330C>A	11.37:g.57958292C>A							p.I110I	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	330	+		Breast(21;0.0589)	110			Helical; Name=3; (Potential).			Silent	SNP	ENST00000311591.3	37	c.330C>A	CCDS31544.1																																																																																				PASS	0.592	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		41	54	41	54	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995641	57995641	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:57995641G>A	ENST00000316770.2	-	1	749	c.707C>T	c.(706-708)gCc>gTc	p.A236V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A236V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCGGCCCTCGGCAGAACGGAT	0.627																																						uc010rkd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(706-708)GCC>GTC		olfactory receptor, family 10, subfamily Q,							56.0	52.0	53.0					11																	57995641		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995641G>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.707C>T	11.37:g.57995641G>A	ENSP00000314324:p.Ala236Val						p.A236V	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	707	-		Breast(21;0.0589)	236			Cytoplasmic (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.707C>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594371	0.28445	.	.	ENSG00000180475	ENST00000316770	T	0.00198	8.57	4.84	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.00210	0.0006	M	0.63843	1.955	0.09310	N	1	B	0.18610	0.029	B	0.25291	0.059	T	0.33163	-0.9879	10	0.62326	D	0.03	.	7.9432	0.29971	0.0857:0.0:0.7548:0.1594	.	236	Q8NGQ4	O10Q1_HUMAN	V	236	ENSP00000314324:A236V	ENSP00000314324:A236V	A	-	2	0	OR10Q1	57752217	0.001000	0.12720	0.020000	0.16555	0.688000	0.40055	1.049000	0.30392	1.277000	0.44412	0.580000	0.79431	GCC		PASS	0.627	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		13	14	13	14	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995753	57995753	+	Missense_Mutation	SNP	C	C	A	rs376884240		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:57995753C>A	ENST00000316770.2	-	1	637	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V199L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCCTGGTGCACGCGGATGTCA	0.592																																						uc010rkd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(595-597)GTG>TTG		olfactory receptor, family 10, subfamily Q,							77.0	66.0	70.0					11																	57995753		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995753C>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.595G>T	11.37:g.57995753C>A	ENSP00000314324:p.Val199Leu						p.V199L	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	595	-		Breast(21;0.0589)	199			Extracellular (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.595G>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	4.697	0.129559	0.08981	.	.	ENSG00000180475	ENST00000316770	T	0.00027	8.93	4.55	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	N	0.001672	T	0.00073	0.0002	N	0.12471	0.22	0.09310	N	1	B	0.23891	0.093	B	0.29524	0.103	T	0.01440	-1.1354	10	0.21014	T	0.42	.	6.759	0.23530	0.0:0.6777:0.1478:0.1746	.	199	Q8NGQ4	O10Q1_HUMAN	L	199	ENSP00000314324:V199L	ENSP00000314324:V199L	V	-	1	0	OR10Q1	57752329	0.000000	0.05858	0.841000	0.33234	0.016000	0.09150	-0.646000	0.05403	1.142000	0.42291	0.580000	0.79431	GTG		PASS	0.592	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		12	16	12	16	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170746	58170746	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:58170746A>C	ENST00000309403.2	-	1	136	c.137T>G	c.(136-138)tTg>tGg	p.L46W		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L46*(2)|p.L46W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGAATATCAATACAATAAT	0.423																																						uc010rkf.1																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)		0						c.(136-138)TTG>TGG		olfactory receptor, family 5, subfamily B,							89.0	88.0	89.0					11																	58170746		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170746A>C	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.137T>G	11.37:g.58170746A>C	ENSP00000308270:p.Leu46Trp						p.L46W	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	137	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	46			Cytoplasmic (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.137T>G	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	8.519	0.868398	0.17250	.	.	ENSG00000172769	ENST00000309403	T	0.03094	4.05	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.614281	0.12060	N	0.503259	T	0.26195	0.0639	H	0.97465	4.01	0.09310	N	1	D	0.60575	0.988	D	0.65010	0.931	T	0.29181	-1.0020	10	0.87932	D	0	-18.6561	8.0168	0.30385	0.9005:0.0:0.0995:0.0	.	46	Q8NH48	OR5B3_HUMAN	W	46	ENSP00000308270:L46W	ENSP00000308270:L46W	L	-	2	0	OR5B3	57927322	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	1.535000	0.36061	1.893000	0.54813	0.477000	0.44152	TTG		PASS	0.423	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		41	40	41	40	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63137701	63137701	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:63137701C>G	ENST00000279178.3	+	1	422	c.173C>G	c.(172-174)aCt>aGt	p.T58S	SLC22A9_ENST00000310969.4_Missense_Mutation_p.T58S	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	58					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.T58S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GACAATGACACTGTCTCTGAC	0.493																																						uc001nww.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(172-174)ACT>AGT		solute carrier family 22 (organic anion/cation							176.0	167.0	170.0					11																	63137701		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137701C>G	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.173C>G	11.37:g.63137701C>G	ENSP00000279178:p.Thr58Ser					SLC22A9_uc001nwx.2_RNA	p.T58S	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			1	441	+			58			Extracellular (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.173C>G	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140323	0.21205	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.36340	1.26;1.26	3.48	3.48	0.39840	.	0.256812	0.39615	N	0.001302	T	0.51160	0.1658	M	0.63843	1.955	0.09310	N	1	D	0.65815	0.995	D	0.64410	0.925	T	0.38112	-0.9676	10	0.27785	T	0.31	.	13.0042	0.58694	0.0:1.0:0.0:0.0	.	58	Q8IVM8	S22A9_HUMAN	S	58	ENSP00000311527:T58S;ENSP00000279178:T58S	ENSP00000279178:T58S	T	+	2	0	SLC22A9	62894277	0.017000	0.18338	0.347000	0.25668	0.325000	0.28411	1.515000	0.35845	2.025000	0.59659	0.134000	0.15878	ACT		PASS	0.493	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		54	52	54	52	---	---	---	---
KRTAP5-9	3846	broad.mit.edu	37	11	71259993	71259993	+	Missense_Mutation	SNP	G	G	T	rs535053140	byFrequency	TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:71259993G>T	ENST00000528743.2	+	1	528	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	97	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.C97F(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TCATCCTGCTGCCAGTGCAGC	0.622																																						uc001oqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)TGC>TTC		keratin associated protein 5-9							108.0	122.0	117.0					11																	71259993		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71259993G>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.290G>T	11.37:g.71259993G>T	ENSP00000431443:p.Cys97Phe						p.C97F	NM_005553	NP_005544	P26371	KRA59_HUMAN			1	528	+			97			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.290G>T	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	10.12	1.262028	0.23051	.	.	ENSG00000254997	ENST00000528743	T	0.05717	3.4	2.26	1.26	0.21427	.	.	.	.	.	T	0.12774	0.0310	M	0.91972	3.26	0.25881	N	0.983582	B	0.20459	0.045	B	0.19666	0.026	T	0.21177	-1.0253	9	0.87932	D	0	.	4.9673	0.14096	0.0:0.2339:0.5281:0.238	.	97	P26371	KRA59_HUMAN	F	97	ENSP00000431443:C97F	ENSP00000431443:C97F	C	+	2	0	KRTAP5-9	70937641	0.833000	0.29383	0.976000	0.42696	0.699000	0.40488	2.264000	0.43302	0.200000	0.20447	0.442000	0.29010	TGC		PASS	0.622	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			61	63	61	63	---	---	---	---
CCDC89	220388	broad.mit.edu	37	11	85396052	85396052	+	Silent	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:85396052T>A	ENST00000316398.3	-	1	1268	c.1122A>T	c.(1120-1122)ccA>ccT	p.P374P	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	374						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P374P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AACTTCCCTATGGAGAGAGAT	0.418																																						uc001pau.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1120-1122)CCA>CCT		coiled-coil domain containing 89							68.0	71.0	70.0					11																	85396052		2203	4299	6502	SO:0001819	synonymous_variant	220388					cytoplasm|nucleus		g.chr11:85396052T>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.1122A>T	11.37:g.85396052T>A							p.P374P	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	1269	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	374						Silent	SNP	ENST00000316398.3	37	c.1122A>T	CCDS8270.1																																																																																				PASS	0.418	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		12	21	12	21	---	---	---	---
PRSS23	11098	broad.mit.edu	37	11	86519020	86519020	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:86519020G>T	ENST00000280258.5	+	2	760	c.335G>T	c.(334-336)gGg>gTg	p.G112V	PRSS23_ENST00000441050.1_Missense_Mutation_p.G80V|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	112						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.G112V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTGGAGATGGGGCCCAACAC	0.522																																						uc001pcb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(334-336)GGG>GTG		protease, serine, 23 precursor							68.0	62.0	64.0					11																	86519020		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519020G>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.335G>T	11.37:g.86519020G>T	ENSP00000280258:p.Gly112Val					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.G80V	p.G112V	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	551	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	112					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.335G>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.987132	0.00443	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.540910	0.17399	N	0.175612	T	0.29158	0.0725	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.09377	0.004;0.003	T	0.09975	-1.0650	8	.	.	.	-4.2932	8.4197	0.32692	0.1085:0.0:0.8915:0.0	.	80;112	B4E2J3;O95084	.;PRS23_HUMAN	V	112;112;80	.	.	G	+	2	0	PRSS23	86196668	0.055000	0.20627	0.005000	0.12908	0.044000	0.14063	2.869000	0.48444	1.984000	0.57885	0.655000	0.94253	GGG		PASS	0.522	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		26	22	26	22	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780463	88780463	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:88780463G>A	ENST00000305447.4	-	1	727	c.578C>T	c.(577-579)cCt>cTt	p.P193L	GRM5_ENST00000455756.2_Missense_Mutation_p.P193L|GRM5_ENST00000305432.5_Missense_Mutation_p.P193L|GRM5_ENST00000393297.1_Missense_Mutation_p.P193L|GRM5_ENST00000393294.3_Missense_Mutation_p.P193L|GRM5_ENST00000418177.2_Missense_Mutation_p.P193L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	193					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.P193L(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGCATCTGAAGGCACAACCCT	0.458																																						uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(577-579)CCT>CTT		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						94.0	82.0	86.0					11																	88780463		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780463G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.578C>T	11.37:g.88780463G>A	ENSP00000306138:p.Pro193Leu					GRM5_uc009yvm.2_Missense_Mutation_p.P193L|GRM5_uc009yvn.1_Missense_Mutation_p.P193L	p.P193L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	778	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	193			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.578C>T	CCDS44694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.514917|4.514917	0.85389|0.85389	.|.	.|.	ENSG00000168959|ENSG00000168959	ENST00000449371|ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	.|D;D;D;D;D;D	.|0.87887	.|-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95316|0.95316	0.8480|0.8480	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.96059|0.96059	0.9037|0.9037	5|9	.|.	.|.	.|.	.|.	19.1788|19.1788	0.93614|0.93614	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|193;193;193	.|A8MT20;P41594-2;P41594	.|.;.;GRM5_HUMAN	F|L	26|193	.|ENSP00000402912:P193L;ENSP00000405690:P193L;ENSP00000305905:P193L;ENSP00000306138:P193L;ENSP00000376975:P193L;ENSP00000376972:P193L	.|.	L|P	-|-	1|2	0|0	GRM5|GRM5	88420111|88420111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.699000|9.699000	0.98703|0.98703	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	CTT|CCT		PASS	0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		26	27	26	27	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102745647	102745647	+	RNA	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:102745647C>A	ENST00000532855.1	-	0	117							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L7L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CCTGCAGGAGCAGTATTAGAA	0.408																																						uc001phk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)CTG>CTT		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						61.0	60.0	61.0					11																	102745647		1851	4083	5934			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102745647C>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102745647C>A							p.L7L	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	1	66	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	7					B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37	c.21G>T																																																																																					PASS	0.408	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		5	2	5	2	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106558379	106558379	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:106558379C>A	ENST00000526355.2	-	8	2563	c.2095G>T	c.(2095-2097)Gta>Tta	p.V699L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V730L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V720L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	699					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.V699L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCAGTCCTTACCTCCAGGAAA	0.458																																						uc001pjg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(2095-2097)GTA>TTA		guanylate cyclase 1, soluble, alpha 2							142.0	144.0	143.0					11																	106558379		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558379C>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2095G>T	11.37:g.106558379C>A	ENSP00000431245:p.Val699Leu					GUCY1A2_uc010rvo.1_Missense_Mutation_p.V720L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.V730L	p.V699L	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2485	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	699					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2095G>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185542	0.38609	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86230	-1.78;-2.09;-1.78	5.38	2.05	0.26809	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.392419	0.17793	N	0.161810	T	0.76702	0.4024	N	0.22421	0.69	0.32709	N	0.511811	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.71520	-0.4568	10	0.26408	T	0.33	.	10.9415	0.47276	0.1307:0.5716:0.2977:0.0	.	720;730;699	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	699;730;720	ENSP00000431245:V699L;ENSP00000282249:V730L;ENSP00000344874:V720L	ENSP00000282249:V730L	V	-	1	0	GUCY1A2	106063589	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.463000	0.35277	0.620000	0.30215	0.305000	0.20034	GTA		PASS	0.458	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			59	78	59	78	---	---	---	---
APOA4	337	broad.mit.edu	37	11	116691973	116691973	+	Silent	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:116691973C>G	ENST00000357780.3	-	3	915	c.801G>C	c.(799-801)ctG>ctC	p.L267L		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	267	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.L267L(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCAAGGGCGCCAGCCTCTGCC	0.657																																						uc001pps.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)CTG>CTC		apolipoprotein A-IV precursor							41.0	45.0	44.0					11																	116691973		2201	4292	6493	SO:0001819	synonymous_variant	337							g.chr11:116691973C>G		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.801G>C	11.37:g.116691973C>G							p.L267L	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	905	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.801G>C	CCDS31681.1																																																																																				PASS	0.657	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		19	31	19	31	---	---	---	---
ZNF202	7753	broad.mit.edu	37	11	123597134	123597134	+	Silent	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:123597134T>C	ENST00000529691.1	-	7	1737	c.1518A>G	c.(1516-1518)gaA>gaG	p.E506E	ZNF202_ENST00000530393.1_Silent_p.E506E|ZNF202_ENST00000336139.4_Silent_p.E506E			O95125	ZN202_HUMAN	zinc finger protein 202	506					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E506E(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AGAAGGGTTTTTCTCCAGTAT	0.453																																						uc001pzd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1516-1518)GAA>GAG		zinc finger protein 202							111.0	112.0	112.0					11																	123597134		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597134T>C	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1518A>G	11.37:g.123597134T>C						ZNF202_uc001pzc.1_Silent_p.E282E|ZNF202_uc001pze.1_Silent_p.E506E|ZNF202_uc001pzf.1_Silent_p.E506E	p.E506E	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	9	1918	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	506					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1518A>G	CCDS8443.1																																																																																				PASS	0.453	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		22	67	22	67	---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128781668	128781668	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:128781668T>C	ENST00000338350.4	+	3	852	c.500T>C	c.(499-501)cTc>cCc	p.L167P	KCNJ5_ENST00000533599.1_Missense_Mutation_p.L167P|KCNJ5_ENST00000529694.1_Missense_Mutation_p.L167P			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	167					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L167P(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GGGATTATACTCCTCTTGGTC	0.537																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(499-501)CTC>CCC		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						158.0	161.0	160.0					11																	128781668		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781668T>C	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.500T>C	11.37:g.128781668T>C	ENSP00000339960:p.Leu167Pro					KCNJ5_uc009zck.2_Missense_Mutation_p.L167P|KCNJ5_uc001qew.2_Missense_Mutation_p.L167P	p.L167P	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	814	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	167			Helical; Name=M2; (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.500T>C	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490087	0.44249	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.96619	-4.07;-4.07;-4.07	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	H	0.95402	3.665	0.80722	D	1	P	0.47034	0.889	P	0.57846	0.828	D	0.99552	1.0966	10	0.87932	D	0	.	15.5352	0.75996	0.0:0.0:0.0:1.0	.	167	P48544	IRK5_HUMAN	P	167	ENSP00000433295:L167P;ENSP00000339960:L167P;ENSP00000434266:L167P	ENSP00000339960:L167P	L	+	2	0	KCNJ5	128286878	1.000000	0.71417	0.157000	0.22605	0.042000	0.13812	8.040000	0.89188	2.068000	0.61886	0.459000	0.35465	CTC		PASS	0.537	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		29	99	29	99	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132307179	132307179	+	Missense_Mutation	SNP	C	C	G	rs148167692		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:132307179C>G	ENST00000331898.7	-	4	1179	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	OPCML_ENST00000524381.1_Missense_Mutation_p.E194Q|OPCML_ENST00000541867.1_Missense_Mutation_p.E201Q|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.E160Q	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	201	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.E201K(2)|p.E201Q(1)|p.E194Q(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)		GCGCTGCATTCGTACTCCCCG	0.532																																						uc001qgs.2																			4	Substitution - Missense(4)	p.E201K(1)	lung(2)|large_intestine(1)|skin(1)	ovary(2)|skin(1)	3						c.(601-603)GAA>CAA		opioid binding protein/cell adhesion							107.0	92.0	97.0					11																	132307179		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307179C>G	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.601G>C	11.37:g.132307179C>G	ENSP00000330862:p.Glu201Gln					OPCML_uc001qgu.2_Missense_Mutation_p.E194Q|OPCML_uc010sck.1_Missense_Mutation_p.E201Q|OPCML_uc001qgt.2_Missense_Mutation_p.E200Q|OPCML_uc010scl.1_Missense_Mutation_p.E160Q	p.E201Q	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	651	-	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)	201			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.601G>C	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935104	0.92458	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.38722	1.33;1.33;1.12;1.12	5.6	5.6	0.85130	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049848	0.85682	D	0.000000	T	0.64638	0.2616	L	0.61218	1.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.989;0.989;0.98;0.998	T	0.66081	-0.6012	10	0.87932	D	0	-21.1241	19.225	0.93815	0.0:1.0:0.0:0.0	.	201;194;200;201	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	Q	201;194;160;168;201	ENSP00000330862:E201Q;ENSP00000434750:E194Q;ENSP00000363910:E160Q;ENSP00000445496:E201Q	ENSP00000330862:E201Q	E	-	1	0	OPCML	131812389	1.000000	0.71417	0.955000	0.39395	0.841000	0.47740	7.487000	0.81328	2.639000	0.89480	0.563000	0.77884	GAA		PASS	0.532	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		33	15	33	15	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154550	5154550	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:5154550C>A	ENST00000252321.3	+	1	1466	c.1237C>A	c.(1237-1239)Ctc>Atc	p.L413I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	413					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.L413I(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CATCTTCAAGCTCTCCCGCCA	0.642																																						uc001qni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1237-1239)CTC>ATC		potassium voltage-gated channel, shaker-related							25.0	25.0	25.0					12																	5154550		2202	4279	6481	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154550C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1237C>A	12.37:g.5154550C>A	ENSP00000252321:p.Leu413Ile						p.L413I	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1466	+			413			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1237C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477788	0.63849	.	.	ENSG00000130037	ENST00000252321	D	0.97994	-4.65	4.87	3.07	0.35406	Ion transport (1);	0.000000	0.64402	D	0.000006	D	0.98448	0.9483	M	0.83852	2.665	0.58432	D	0.999995	D	0.76494	0.999	D	0.87578	0.998	D	0.98616	1.0665	10	0.87932	D	0	.	11.3163	0.49394	0.0:0.8806:0.0:0.1194	.	413	P22460	KCNA5_HUMAN	I	413	ENSP00000252321:L413I	ENSP00000252321:L413I	L	+	1	0	KCNA5	5024811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	0.675000	0.31264	0.561000	0.74099	CTC		PASS	0.642	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		7	7	7	7	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6184682	6184682	+	Silent	SNP	G	G	A	rs527344390	byFrequency	TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:6184682G>A	ENST00000261405.5	-	7	947	c.693C>T	c.(691-693)acC>acT	p.T231T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	231	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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.T231T(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)	CAAACACCGAGGTGCTCTTCA	0.627																																						uc001qnn.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(691-693)ACC>ACT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						43.0	42.0	42.0					12																	6184682		2203	4299	6502	SO:0001819	synonymous_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.chr12:6184682G>A		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.693C>T	12.37:g.6184682G>A						VWF_uc010set.1_Silent_p.T231T	p.T231T	NM_000552	NP_000543	P04275	VWF_HUMAN			7	943	-			231			VWFD 1.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.693C>T	CCDS8539.1																																																																																				PASS	0.627	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		13	8	13	8	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7639250	7639250	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:7639250G>C	ENST00000359156.4	-	10	2505	c.2303C>G	c.(2302-2304)gCc>gGc	p.A768G	CD163_ENST00000396620.3_Missense_Mutation_p.A801G|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.A768G|CD163_ENST00000541972.1_Missense_Mutation_p.A756G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	768	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.A768G(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGAACCAGTGGCATTAATGGC	0.537																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(2302-2304)GCC>GGC		CD163 antigen isoform a							172.0	171.0	171.0					12																	7639250		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639250G>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2303C>G	12.37:g.7639250G>C	ENSP00000352071:p.Ala768Gly					CD163_uc001qta.3_Missense_Mutation_p.A768G|CD163_uc009zfw.2_Missense_Mutation_p.A801G	p.A768G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			10	2431	-			768			SRCR 7.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2303C>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117115	0.77323	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.54	3.69	0.42338	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.155915	0.45361	D	0.000370	T	0.79964	0.4537	M	0.93375	3.41	0.38371	D	0.944877	P;D;D	0.60160	0.954;0.987;0.974	P;P;P	0.59012	0.85;0.762;0.805	D	0.84590	0.0666	10	0.87932	D	0	.	10.4937	0.44764	0.1609:0.0:0.8391:0.0	.	801;768;768	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	G	768;756;801;768	ENSP00000352071:A768G;ENSP00000444071:A756G;ENSP00000379863:A801G;ENSP00000403885:A768G	ENSP00000352071:A768G	A	-	2	0	CD163	7530517	0.999000	0.42202	0.745000	0.31077	0.996000	0.88848	3.894000	0.56250	0.807000	0.34208	0.650000	0.86243	GCC		PASS	0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		72	80	72	80	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805255	7805255	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:7805255C>G	ENST00000229304.4	-	3	241	c.221G>C	c.(220-222)aGa>aCa	p.R74T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	74					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R74T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GTGAAAATCTCTTTCTGACGt	0.473																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)AGA>ACA		apolipoprotein B mRNA editing enzyme							37.0	37.0	37.0					12																	7805255		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805255C>G	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.221G>C	12.37:g.7805255C>G	ENSP00000229304:p.Arg74Thr					APOBEC1_uc001qtc.2_Missense_Mutation_p.R29T|APOBEC1_uc010sgf.1_Missense_Mutation_p.R74T	p.R74T	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	255	-			74					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.221G>C	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325088	0.24080	.	.	ENSG00000111701	ENST00000229304	T	0.66099	-0.19	4.48	4.48	0.54585	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);	0.000000	0.64402	D	0.000010	T	0.68787	0.3039	M	0.82517	2.595	0.09310	N	0.999997	P	0.47191	0.891	P	0.45753	0.492	T	0.68100	-0.5498	10	0.72032	D	0.01	-9.8937	13.0361	0.58873	0.0:1.0:0.0:0.0	.	74	P41238	ABEC1_HUMAN	T	74	ENSP00000229304:R74T	ENSP00000229304:R74T	R	-	2	0	APOBEC1	7696522	0.001000	0.12720	0.242000	0.24170	0.035000	0.12851	1.067000	0.30616	2.224000	0.72417	0.462000	0.41574	AGA		PASS	0.473	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		11	18	11	18	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21693479	21693479	+	Silent	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:21693479A>T	ENST00000261195.2	-	14	1928	c.1674T>A	c.(1672-1674)cgT>cgA	p.R558R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R558R(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATCTGGAGAACGGAACCGCC	0.423																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(1672-1674)CGT>CGA		glycogen synthase 2							102.0	103.0	103.0					12																	21693479		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21693479A>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1674T>A	12.37:g.21693479A>T							p.R558R	NM_021957	NP_068776	P54840	GYS2_HUMAN			14	1929	-			558					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.1674T>A	CCDS8690.1																																																																																				PASS	0.423	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		56	37	56	37	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21699353	21699353	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:21699353C>G	ENST00000261195.2	-	12	1728	c.1474G>C	c.(1474-1476)Gac>Cac	p.D492H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	492					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.D492H(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTTCATAGTCCATGGGTAGT	0.378																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1474-1476)GAC>CAC		glycogen synthase 2							53.0	51.0	52.0					12																	21699353		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21699353C>G		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1474G>C	12.37:g.21699353C>G	ENSP00000261195:p.Asp492His						p.D492H	NM_021957	NP_068776	P54840	GYS2_HUMAN			12	1729	-			492					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1474G>C	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627264	0.66901	.	.	ENSG00000111713	ENST00000261195	T	0.73789	-0.78	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92173	0.5745	10	0.87932	D	0	-23.8016	17.807	0.88604	0.0:1.0:0.0:0.0	.	492	P54840	GYS2_HUMAN	H	492	ENSP00000261195:D492H	ENSP00000261195:D492H	D	-	1	0	GYS2	21590620	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.550000	0.82173	2.500000	0.84329	0.563000	0.77884	GAC		PASS	0.378	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		8	17	8	17	---	---	---	---
BICD1	636	broad.mit.edu	37	12	32481359	32481359	+	Missense_Mutation	SNP	G	G	T	rs200686810		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:32481359G>T	ENST00000281474.5	+	5	2073	c.1970G>T	c.(1969-1971)cGg>cTg	p.R657L	BICD1_ENST00000548411.1_Missense_Mutation_p.R657L	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	657					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.R657Q(2)|p.R657L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCAGCGGCTCGGGAGCTAGCC	0.502																																						uc001rku.2																			3	Substitution - Missense(3)	p.R657Q(1)	central_nervous_system(2)|lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1969-1971)CGG>CTG		bicaudal D homolog 1 isoform 1							70.0	75.0	73.0					12																	32481359		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32481359G>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1970G>T	12.37:g.32481359G>T	ENSP00000281474:p.Arg657Leu					BICD1_uc001rkv.2_Missense_Mutation_p.R657L|BICD1_uc010skd.1_RNA	p.R657L	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2051	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		657					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1970G>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099501	0.37048	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.43294	0.95;0.95	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.13098	0.295	0.80722	D	1	B;B	0.26902	0.052;0.163	B;B	0.26310	0.024;0.068	T	0.06807	-1.0806	10	0.21540	T	0.41	.	18.4173	0.90575	0.0:0.0:1.0:0.0	.	657;657	F8W113;Q96G01	.;BICD1_HUMAN	L	657	ENSP00000446793:R657L;ENSP00000281474:R657L	ENSP00000281474:R657L	R	+	2	0	BICD1	32372626	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	6.595000	0.74109	2.333000	0.79357	0.655000	0.94253	CGG		PASS	0.502	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		42	27	42	27	---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50642452	50642452	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:50642452T>C	ENST00000341247.4	-	2	232	c.83A>G	c.(82-84)aAg>aGg	p.K28R	LIMA1_ENST00000394943.3_Missense_Mutation_p.K28R	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	28					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.K28R(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGACTTGTTCTTGTTGACAAG	0.443																																						uc001rwj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)AAG>AGG		LIM domain and actin binding 1 isoform b							169.0	148.0	155.0					12																	50642452		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50642452T>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.83A>G	12.37:g.50642452T>C	ENSP00000340184:p.Lys28Arg					LIMA1_uc001rwk.3_Missense_Mutation_p.K28R|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.K28R	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			2	257	-			28					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.83A>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143505	0.57044	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	T;T	0.81415	-1.49;-0.76	4.7	3.58	0.41010	.	0.131674	0.48767	D	0.000161	T	0.69949	0.3168	L	0.39397	1.21	0.80722	D	1	P;P	0.42692	0.787;0.615	B;B	0.40134	0.294;0.32	T	0.68723	-0.5333	10	0.37606	T	0.19	-22.1229	7.8092	0.29221	0.0:0.0989:0.0:0.9011	.	37;28	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	R	28	ENSP00000378400:K28R;ENSP00000340184:K28R	ENSP00000340184:K28R	K	-	2	0	LIMA1	48928719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.827000	0.48112	2.058000	0.61347	0.533000	0.62120	AAG		PASS	0.443	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		45	32	45	32	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51089048	51089048	+	Splice_Site	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:51089048A>C	ENST00000301180.5	+	15	1753		c.e15-1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTGTTTTTCAGAATGTAATG	0.313																																						uc001rwv.2																			1	Unknown(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.e15-2		DIP2 disco-interacting protein 2 homolog B							113.0	112.0	112.0					12																	51089048		2203	4300	6503	SO:0001630	splice_region_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51089048A>C	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1720-1A>C	12.37:g.51089048A>C						DIP2B_uc009zlt.2_Splice_Site_p.N4_splice	p.N574_splice	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			15	1876	+								Q6B011|Q8N1L5|Q8NB38	Splice_Site	SNP	ENST00000301180.5	37	c.1720_splice	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149804	0.78001	.	.	ENSG00000066084	ENST00000301180	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4431	0.75204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIP2B	49375315	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.080000	0.94040	2.225000	0.72522	0.528000	0.53228	.		PASS	0.313	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	Intron	58	34	58	34	---	---	---	---
OR6C6	283365	broad.mit.edu	37	12	55688865	55688865	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:55688865G>T	ENST00000358433.2	-	1	151	c.152C>A	c.(151-153)cCc>cAc	p.P51H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P51H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTGAGCCGGGGATCCAGCAG	0.413																																						uc010sph.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(151-153)CCC>CAC		olfactory receptor, family 6, subfamily C,							92.0	93.0	93.0					12																	55688865		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688865G>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.152C>A	12.37:g.55688865G>T	ENSP00000351211:p.Pro51His						p.P51H	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	152	-			51			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000358433.2	37	c.152C>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	1.194	-0.634579	0.03584	.	.	ENSG00000188324	ENST00000358433	T	0.04083	3.71	4.24	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.469168	0.17889	N	0.158600	T	0.04452	0.0122	L	0.38531	1.155	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.35025	-0.9805	10	0.35671	T	0.21	.	7.3822	0.26862	0.0925:0.0:0.7013:0.2062	.	51	A6NF89	OR6C6_HUMAN	H	51	ENSP00000351211:P51H	ENSP00000351211:P51H	P	-	2	0	OR6C6	53975132	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-0.681000	0.05191	1.138000	0.42230	0.580000	0.79431	CCC		PASS	0.413	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			16	19	16	19	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57563000	57563000	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:57563000G>T	ENST00000243077.3	+	20	3539	c.3073G>T	c.(3073-3075)Ggg>Tgg	p.G1025W	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1025	LDL-receptor class A 7. {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.G1025W(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)	GTGCAACAGCGGGCGTTGCAT	0.602																																						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.(3073-3075)GGG>TGG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						79.0	66.0	71.0					12																	57563000		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.chr12:57563000G>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.3073G>T	12.37:g.57563000G>T	ENSP00000243077:p.Gly1025Trp					LRP1_uc009zpi.1_RNA	p.G1025W	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3539	+			1025			LDL-receptor class A 7.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3073G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812386	0.90707	.	.	ENSG00000123384	ENST00000243077	D	0.93247	-3.19	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	D	0.98362	0.9456	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99612	1.0981	10	0.87932	D	0	.	16.7819	0.85565	0.0:0.0:1.0:0.0	.	1025	Q07954	LRP1_HUMAN	W	1025	ENSP00000243077:G1025W	ENSP00000243077:G1025W	G	+	1	0	LRP1	55849267	1.000000	0.71417	0.974000	0.42286	0.917000	0.54804	7.685000	0.84117	2.511000	0.84671	0.561000	0.74099	GGG		PASS	0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		29	29	29	29	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57573861	57573861	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:57573861A>T	ENST00000243077.3	+	31	5639	c.5173A>T	c.(5173-5175)Agc>Tgc	p.S1725C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1725					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.S1725C(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)	TGACAACATCAGCATGGCCAA	0.637																																						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.(5173-5175)AGC>TGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						177.0	175.0	176.0					12																	57573861		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.chr12:57573861A>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.5173A>T	12.37:g.57573861A>T	ENSP00000243077:p.Ser1725Cys						p.S1725C	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	31	5639	+			1725			LDL-receptor class B 15.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.5173A>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496952	0.64186	.	.	ENSG00000123384	ENST00000243077	D	0.91295	-2.82	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.060395	0.64402	D	0.000007	D	0.89529	0.6741	L	0.41415	1.275	0.80722	D	1	D	0.58620	0.983	P	0.50231	0.635	D	0.90530	0.4495	10	0.66056	D	0.02	.	13.5905	0.61957	1.0:0.0:0.0:0.0	.	1725	Q07954	LRP1_HUMAN	C	1725	ENSP00000243077:S1725C	ENSP00000243077:S1725C	S	+	1	0	LRP1	55860128	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.097000	0.94193	2.037000	0.60232	0.533000	0.62120	AGC		PASS	0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		73	58	73	58	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66620557	66620557	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:66620557G>A	ENST00000261233.4	+	7	1129	c.708G>A	c.(706-708)aaG>aaA	p.K236K	IRAK3_ENST00000457197.2_Silent_p.K175K	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.K236K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGACTGAGAAGTTCTGTCTGA	0.363																																						uc001sth.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(706-708)AAG>AAA		interleukin-1 receptor-associated kinase 3							163.0	150.0	154.0					12																	66620557		2203	4300	6503	SO:0001819	synonymous_variant	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66620557G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.708G>A	12.37:g.66620557G>A						IRAK3_uc010ssy.1_Silent_p.K175K	p.K236K	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	7	810	+			236			Protein kinase.			Silent	SNP	ENST00000261233.4	37	c.708G>A	CCDS8975.1																																																																																				PASS	0.363	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			29	21	29	21	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66788127	66788127	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:66788127G>T	ENST00000398016.3	-	16	1902	c.1834C>A	c.(1834-1836)Caa>Aaa	p.Q612K	GRIP1_ENST00000359742.4_Missense_Mutation_p.Q664K|GRIP1_ENST00000542021.1_5'UTR|GRIP1_ENST00000286445.7_Missense_Mutation_p.Q664K	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.Q612K(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAACTTTCTTGCTCATCTGTA	0.388																																						uc001stk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1834-1836)CAA>AAA		glutamate receptor interacting protein 1							53.0	50.0	51.0					12																	66788127		1818	4084	5902	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66788127G>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1834C>A	12.37:g.66788127G>T	ENSP00000381098:p.Gln612Lys					GRIP1_uc010sta.1_Missense_Mutation_p.Q556K|GRIP1_uc001stj.2_Missense_Mutation_p.Q394K|GRIP1_uc001stl.1_Missense_Mutation_p.Q504K|GRIP1_uc001stm.2_Missense_Mutation_p.Q612K	p.Q612K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	16	2075	-			664					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1834C>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.92|17.92	3.507837|3.507837	0.64410|0.64410	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.20598|.	2.06;2.07;2.07;2.07;2.14;2.14|.	4.2|4.2	4.2|4.2	0.49525|0.49525	PDZ/DHR/GLGF (1);|.	0.112632|.	0.64402|.	D|.	0.000006|.	T|T	0.59622|0.59622	0.2207|0.2207	L|L	0.36672|0.36672	1.1|1.1	0.54753|0.54753	D|D	0.999983|0.999983	P;B;B;P|.	0.46621|.	0.787;0.125;0.275;0.881|.	B;B;B;P|.	0.46299|.	0.219;0.129;0.219;0.511|.	T|T	0.55444|0.55444	-0.8140|-0.8140	9|5	.|.	.|.	.|.	-14.6801|-14.6801	17.8456|17.8456	0.88729|0.88729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	612;664;612;664|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	K|R	612;664;664;612;556;504|478	ENSP00000381098:Q612K;ENSP00000352780:Q664K;ENSP00000286445:Q664K;ENSP00000446047:Q612K;ENSP00000446024:Q556K;ENSP00000446011:Q504K|.	.|.	Q|S	-|-	1|3	0|2	GRIP1|GRIP1	65074394|65074394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.601000|9.601000	0.98297|0.98297	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CAA|AGC		PASS	0.388	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			24	17	24	17	---	---	---	---
CNOT2	4848	broad.mit.edu	37	12	70732322	70732322	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:70732322G>T	ENST00000418359.3	+	11	1451	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.G334W	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	334					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.G334W(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCAGAAAAAAGGGATCCAGGT	0.323																																						uc001svv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)GGG>TGG		CCR4-NOT transcription complex, subunit 2							87.0	90.0	89.0					12																	70732322		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732322G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1000G>T	12.37:g.70732322G>T	ENSP00000412091:p.Gly334Trp					CNOT2_uc009zro.2_Missense_Mutation_p.G334W|CNOT2_uc009zrp.2_Missense_Mutation_p.G314W|CNOT2_uc009zrq.2_Missense_Mutation_p.G334W|CNOT2_uc001svw.1_Missense_Mutation_p.G74W	p.G334W	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1579	+	Renal(347;0.236)		334					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.1000G>T	CCDS31857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.90|19.90	3.913194|3.913194	0.72983|0.72983	.|.	.|.	ENSG00000111596|ENSG00000111596	ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155|ENST00000552599	T;T;T;T|.	0.55760|.	0.5;0.5;0.51;0.5|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.044168|.	0.85682|.	D|.	0.000000|.	T|T	0.81941|0.81941	0.4929|0.4929	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.81602|0.81602	-0.0858|-0.0858	10|5	0.87932|.	D|.	0|.	-3.8409|-3.8409	19.8633|19.8633	0.96793|0.96793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	334;334|.	Q9NZN8-4;Q9NZN8|.	.;CNOT2_HUMAN|.	W|M	334;334;197;273;325;334;144|44	ENSP00000229195:G334W;ENSP00000412091:G334W;ENSP00000449659:G325W;ENSP00000449260:G334W|.	ENSP00000229195:G334W|.	G|R	+|+	1|2	0|0	CNOT2|CNOT2	69018589|69018589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.697000|2.697000	0.92050|0.92050	0.591000|0.591000	0.81541|0.81541	GGG|AGG		PASS	0.323	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			32	34	32	34	---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83289921	83289921	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:83289921G>T	ENST00000321196.3	+	3	1686	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C	TMTC2_ENST00000549919.1_Missense_Mutation_p.G321C|TMTC2_ENST00000548305.1_Missense_Mutation_p.G327C	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	327					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.G327C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TGCCTACTATGGTTTGAAGAG	0.463																																						uc001szt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(979-981)GGT>TGT		transmembrane and tetratricopeptide repeat							103.0	101.0	102.0					12																	83289921		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289921G>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.979G>T	12.37:g.83289921G>T	ENSP00000322300:p.Gly327Cys					TMTC2_uc001szr.1_Missense_Mutation_p.G327C|TMTC2_uc001szs.1_Missense_Mutation_p.G327C|TMTC2_uc010suk.1_Missense_Mutation_p.G82C	p.G327C	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			3	1411	+			327			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.979G>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595612	0.46318	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61510	0.75;0.1;0.65	5.99	1.66	0.24008	.	0.170543	0.64402	D	0.000005	T	0.28732	0.0712	N	0.08118	0	0.43787	D	0.996326	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.004	T	0.03463	-1.1034	10	0.33141	T	0.24	-5.2282	2.7594	0.05302	0.4472:0.0:0.3488:0.204	.	327;82;327	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	C	327;327;321;82	ENSP00000322300:G327C;ENSP00000448292:G327C;ENSP00000447609:G321C	ENSP00000322300:G327C	G	+	1	0	TMTC2	81814052	0.993000	0.37304	0.468000	0.27192	0.900000	0.52787	2.475000	0.45162	0.434000	0.26340	-0.126000	0.14955	GGT		PASS	0.463	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		45	37	45	37	---	---	---	---
NTS	4922	broad.mit.edu	37	12	86272314	86272314	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:86272314A>C	ENST00000256010.6	+	3	434	c.327A>C	c.(325-327)aaA>aaC	p.K109N	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	109					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)		p.K109N(1)		large_intestine(2)|lung(6)	8						AGCTCCACAAAATCTGTCACA	0.363																																						uc001tag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)AAA>AAC		neurotensin/neuromedin N preproprotein							85.0	83.0	84.0					12																	86272314		2203	4300	6503	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86272314A>C		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.327A>C	12.37:g.86272314A>C	ENSP00000256010:p.Lys109Asn						p.K109N	NM_006183	NP_006174	P30990	NEUT_HUMAN			3	434	+			109						Missense_Mutation	SNP	ENST00000256010.6	37	c.327A>C	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255256	0.39896	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	2.81	0.32909	.	0.108661	0.64402	N	0.000010	T	0.51193	0.1660	M	0.63843	1.955	0.35099	D	0.765015	B	0.23442	0.085	B	0.23419	0.046	T	0.55742	-0.8093	9	0.87932	D	0	-15.7377	7.1888	0.25814	0.7877:0.0:0.0713:0.1411	.	109	P30990	NEUT_HUMAN	N	109;54	.	ENSP00000256010:K109N	K	+	3	2	NTS	84796445	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.780000	0.47742	0.256000	0.21614	0.460000	0.39030	AAA		PASS	0.363	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2			37	22	37	22	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	90020239	90020239	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:90020239C>A	ENST00000428670.3	-	8	1577	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	ATP2B1_ENST00000393164.2_Missense_Mutation_p.G117V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G374V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G374V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G374V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	374					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G374V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACCTGCTTTGCCAATCTGAAC	0.318																																						uc001tbh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1120-1122)GGC>GTC		plasma membrane calcium ATPase 1 isoform 1b							77.0	76.0	76.0					12																	90020239		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90020239C>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1121G>T	12.37:g.90020239C>A	ENSP00000392043:p.Gly374Val					ATP2B1_uc001tbg.2_Missense_Mutation_p.G374V|ATP2B1_uc001tbf.2_Missense_Mutation_p.G44V	p.G374V	NM_001682	NP_001673	P20020	AT2B1_HUMAN			7	1302	-			374			Helical; (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1121G>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699409	0.88830	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.71296	2.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.993;0.988	D	0.94164	0.7417	9	.	.	.	-11.895	19.8576	0.96767	0.0:1.0:0.0:0.0	.	374;374;374	P20020-3;P20020-2;P20020-6	.;.;.	V	374;374;374;374;117	ENSP00000261173:G374V;ENSP00000343599:G374V;ENSP00000352054:G374V;ENSP00000392043:G374V;ENSP00000376869:G117V	.	G	-	2	0	ATP2B1	88544370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.696000	0.92011	0.655000	0.94253	GGC		PASS	0.318	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		24	21	24	21	---	---	---	---
NDUFA12	55967	broad.mit.edu	37	12	95397373	95397373	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:95397373G>A	ENST00000327772.2	-	1	173	c.84C>T	c.(82-84)ttC>ttT	p.F28F	NDUFA12_ENST00000547157.1_Silent_p.F28F|NDUFA12_ENST00000547986.1_Silent_p.F28F	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	28					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R29fs*4(1)|p.F28F(1)		endometrium(1)|large_intestine(2)|lung(3)	6						CCGCCTACCTGAAAAAAACCC	0.612																																						uc001tdl.2																			2	Substitution - coding silent(1)|Insertion - Frameshift(1)		large_intestine(1)|lung(1)		0						c.(82-84)TTC>TTT		13kDa differentiation-associated protein	NADH(DB00157)						69.0	77.0	74.0					12																	95397373		2203	4300	6503	SO:0001819	synonymous_variant	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95397373G>A	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"""Mitochondrial respiratory chain complex / Complex I"""	23987	protein-coding gene	gene with protein product	"""complex I B17.2 subunit"""	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.84C>T	12.37:g.95397373G>A							p.F28F	NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN			1	139	-			28					F8VQS7|Q53XX0|Q9BRV6	Silent	SNP	ENST00000327772.2	37	c.84C>T	CCDS9050.1																																																																																				PASS	0.612	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838		14	85	14	85	---	---	---	---
ELK3	2004	broad.mit.edu	37	12	96617398	96617398	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:96617398G>A	ENST00000228741.3	+	2	380	c.54G>A	c.(52-54)caG>caA	p.Q18Q	ELK3_ENST00000552142.1_Silent_p.Q18Q|RP11-394J1.2_ENST00000551844.1_RNA	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	18					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q18Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGCTGGATCAGAAACATGAGC	0.527																																						uc001teo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(52-54)CAG>CAA		ELK3 protein							135.0	109.0	118.0					12																	96617398		2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96617398G>A	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.54G>A	12.37:g.96617398G>A							p.Q18Q	NM_005230	NP_005221	P41970	ELK3_HUMAN			2	333	+	all_cancers(2;0.00173)		18			ETS.		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.54G>A	CCDS9060.1																																																																																				PASS	0.527	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		22	21	22	21	---	---	---	---
PARPBP	55010	broad.mit.edu	37	12	102589749	102589749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:102589749G>T	ENST00000358383.5	+	11	1465	c.1420G>T	c.(1420-1422)Gga>Tga	p.G474*	PARPBP_ENST00000378128.3_Missense_Mutation_p.W281L|PARPBP_ENST00000543784.1_Missense_Mutation_p.W167L|PARPBP_ENST00000327680.2_Nonsense_Mutation_p.G393*|PARPBP_ENST00000392911.2_Nonsense_Mutation_p.G393*|PARPBP_ENST00000541394.1_Nonsense_Mutation_p.G551*|PARPBP_ENST00000535811.1_3'UTR			Q9NWS1	PARI_HUMAN	PARP1 binding protein	474					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G393*(1)|p.G474*(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TCCATCTGTTGGAAGATCAAC	0.313																																						uc001tjf.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1420-1422)GGA>TGA		hypothetical protein LOC55010							48.0	49.0	49.0					12																	102589749		2200	4291	6491	SO:0001587	stop_gained	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102589749G>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1420G>T	12.37:g.102589749G>T	ENSP00000351153:p.Gly474*					C12orf48_uc001tjg.2_Nonsense_Mutation_p.G393*|C12orf48_uc010swa.1_Nonsense_Mutation_p.G551*|C12orf48_uc001tjh.2_Nonsense_Mutation_p.G393*|C12orf48_uc010swb.1_Missense_Mutation_p.W167L|C12orf48_uc009zuc.2_Nonsense_Mutation_p.G28*|C12orf48_uc001tjj.2_Nonsense_Mutation_p.G189*|C12orf48_uc001tjk.2_3'UTR|C12orf48_uc009zud.2_Missense_Mutation_p.W281L	p.G474*	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			11	1532	+			474					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Nonsense_Mutation	SNP	ENST00000358383.5	37	c.1420G>T	CCDS9090.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.936211|4.936211	0.92458|0.92458	.|.	.|.	ENSG00000185480|ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911|ENST00000378128;ENST00000543784;ENST00000412715	.|.	.|.	.|.	5.17|5.17	4.28|4.28	0.50868|0.50868	.|.	0.495842|.	0.24236|.	N|.	0.040302|.	.|T	.|0.69196	.|0.3084	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.996;0.999	.|D;D	.|0.80764	.|0.986;0.994	.|T	.|0.66143	.|-0.5997	.|7	0.66056|0.25106	D|T	0.02|0.35	-4.8732|-4.8732	9.4737|9.4737	0.38858|0.38858	0.1622:0.0:0.8378:0.0|0.1622:0.0:0.8378:0.0	.|.	.|167;281	.|B4DT40;Q9NWS1-6	.|.;.	X|L	393;551;474;393|281;167;248	.|.	ENSP00000332915:G393X|ENSP00000367368:W281L	G|W	+|+	1|2	0|0	C12orf48|C12orf48	101113879|101113879	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.794000|0.794000	0.44872|0.44872	1.776000|1.776000	0.38594|0.38594	1.184000|1.184000	0.42957|0.42957	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.313	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		15	18	15	18	---	---	---	---
HSP90B1	7184	broad.mit.edu	37	12	104327872	104327872	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:104327872G>C	ENST00000299767.5	+	5	732	c.550G>C	c.(550-552)Gat>Cat	p.D184H		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	184					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.D184H(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AGCACAGGAAGATGGCCAGTC	0.423																																						uc001tkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(550-552)GAT>CAT		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						108.0	104.0	105.0					12																	104327872		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104327872G>C	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.550G>C	12.37:g.104327872G>C	ENSP00000299767:p.Asp184His					HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.D184H	p.D184H	NM_003299	NP_003290	P14625	ENPL_HUMAN			5	655	+			184					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.550G>C	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508288	0.85282	.	.	ENSG00000166598	ENST00000299767;ENST00000537375	T	0.21191	2.02	5.92	5.92	0.95590	ATPase-like, ATP-binding domain (4);	0.192116	0.56097	D	0.000040	T	0.35335	0.0928	L	0.40543	1.245	0.80722	D	1	P;P	0.50066	0.931;0.915	P;P	0.54924	0.76;0.764	T	0.01436	-1.1355	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	210;184	Q59FC6;P14625	.;ENPL_HUMAN	H	184	ENSP00000299767:D184H	ENSP00000299767:D184H	D	+	1	0	HSP90B1	102852002	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.015000	0.88690	2.822000	0.97130	0.650000	0.86243	GAT		PASS	0.423	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		6	82	6	82	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109520495	109520495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:109520495G>T	ENST00000257548.5	+	10	988	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	USP30_ENST00000392784.2_Nonsense_Mutation_p.E268*	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	299	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E290*(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GTTGAACGGGGAAAAGGTGGA	0.463																																						uc010sxi.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(895-897)GAA>TAA		ubiquitin specific peptidase 30							83.0	76.0	78.0					12																	109520495		2203	4300	6503	SO:0001587	stop_gained	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109520495G>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.895G>T	12.37:g.109520495G>T	ENSP00000257548:p.Glu299*					USP30_uc001tnu.3_Nonsense_Mutation_p.E268*|USP30_uc001tnw.3_Nonsense_Mutation_p.E16*	p.E299*	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			10	999	+			299			Cytoplasmic (Potential).		Q8WTU7|Q96JX4|Q9BSS3	Nonsense_Mutation	SNP	ENST00000257548.5	37	c.895G>T	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	G	41	8.966149	0.99019	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	.	.	.	4.92	4.03	0.46877	.	0.561839	0.19177	N	0.120784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-10.4857	7.9195	0.29837	0.0899:0.274:0.6361:0.0	.	.	.	.	X	268;299	.	ENSP00000257548:E299X	E	+	1	0	USP30	108004878	1.000000	0.71417	0.587000	0.28692	0.601000	0.36947	5.876000	0.69667	1.212000	0.43366	0.561000	0.74099	GAA		PASS	0.463	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		9	15	9	15	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113612734	113612734	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:113612734C>A	ENST00000306014.5	-	9	909	c.882G>T	c.(880-882)acG>acT	p.T294T	DDX54_ENST00000314045.7_Silent_p.T294T	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	294	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.T294T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCACGGGCTCCGTGAGGCCTG	0.667											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tup.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(880-882)ACG>ACT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							40.0	34.0	36.0					12																	113612734		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113612734C>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.882G>T	12.37:g.113612734C>A			OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451	DDX54_uc001tuq.3_Silent_p.T294T	p.T294T	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			9	910	-			294			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.882G>T	CCDS31907.1																																																																																				PASS	0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		7	5	7	5	---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132335647	132335647	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:132335647G>T	ENST00000360564.1	+	10	1742	c.1640G>T	c.(1639-1641)gGa>gTa	p.G547V	MMP17_ENST00000535004.1_Missense_Mutation_p.G87V|MMP17_ENST00000535291.1_Missense_Mutation_p.G463V	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	547					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G547V(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GCCCCTCCAGGACAACATGAC	0.706																																						uc001ujc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)GGA>GTA		matrix metalloproteinase 17 preproprotein							23.0	24.0	24.0					12																	132335647		2196	4299	6495	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132335647G>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1640G>T	12.37:g.132335647G>T	ENSP00000353767:p.Gly547Val					MMP17_uc001ujd.1_Missense_Mutation_p.G463V	p.G547V	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	10	1739	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		547					Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1640G>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733302	0.30684	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000535004	T;T;T	0.17054	2.3;2.32;2.42	4.88	4.88	0.63580	.	1.608100	0.04131	N	0.318032	T	0.13243	0.0321	N	0.08118	0	0.80722	D	1	B	0.32829	0.386	B	0.26969	0.075	T	0.20773	-1.0265	10	0.52906	T	0.07	.	17.0153	0.86416	0.0:0.0:1.0:0.0	.	547	Q9ULZ9	MMP17_HUMAN	V	547;463;87	ENSP00000353767:G547V;ENSP00000441106:G463V;ENSP00000445620:G87V	ENSP00000353767:G547V	G	+	2	0	MMP17	130901600	1.000000	0.71417	0.049000	0.19019	0.157000	0.22087	3.821000	0.55700	2.274000	0.75844	0.491000	0.48974	GGA		PASS	0.706	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		6	3	6	3	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32914784	32914784	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr13:32914784T>A	ENST00000380152.3	+	11	6525	c.6292T>A	c.(6292-6294)Tct>Act	p.S2098T	BRCA2_ENST00000544455.1_Missense_Mutation_p.S2098T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2098					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2098T(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCACCTACGTCTAGACAAAA	0.348			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6292-6294)TCT>ACT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							53.0	56.0	55.0					13																	32914784		2202	4298	6500	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914784T>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6292T>A	13.37:g.32914784T>A	ENSP00000369497:p.Ser2098Thr	TCGA Ovarian(8;0.087)					p.S2098T	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6519	+		Lung SC(185;0.0262)	2098					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6292T>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	0.974	-0.699246	0.03279	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00711	5.8;5.8	5.49	1.85	0.25348	.	1.015100	0.07861	N	0.966401	T	0.00875	0.0029	L	0.55103	1.725	0.09310	N	1	P	0.38922	0.651	B	0.35859	0.212	T	0.42498	-0.9448	10	0.09084	T	0.74	.	5.1465	0.14987	0.0:0.2443:0.2154:0.5403	.	2098	P51587	BRCA2_HUMAN	T	2098	ENSP00000369497:S2098T;ENSP00000439902:S2098T	ENSP00000369497:S2098T	S	+	1	0	BRCA2	31812784	0.011000	0.17503	0.001000	0.08648	0.101000	0.19017	1.920000	0.40025	0.394000	0.25230	0.482000	0.46254	TCT		PASS	0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		16	30	16	30	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208879	58208879	+	Silent	SNP	G	G	A	rs150039929		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr13:58208879G>A	ENST00000377918.3	+	1	2225	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E733E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAAGCGCGAGAACAAGGAGA	0.557																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2197-2199)GAG>GAA		protocadherin 17 precursor							82.0	78.0	79.0					13																	58208879		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208879G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2199G>A	13.37:g.58208879G>A						PCDH17_uc010aec.1_Silent_p.E733E	p.E733E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3091	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	733			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2199G>A	CCDS31986.1																																																																																				PASS	0.557	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		9	21	9	21	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70535578	70535578	+	Splice_Site	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr13:70535578T>C	ENST00000377844.4	-	3	1440		c.e3-2		KLHL1_ENST00000545028.1_Splice_Site	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1						actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGAACAAGCCTGAAAGAGTCA	0.418																																						uc001vip.2																			1	Unknown(1)		lung(1)		0						c.e3-1		kelch-like 1 protein							93.0	83.0	87.0					13																	70535578		2203	4300	6503	SO:0001630	splice_region_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535578T>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.681-2A>G	13.37:g.70535578T>C						KLHL1_uc010thm.1_Splice_Site_p.R166_splice	p.R227_splice	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1475	-		Breast(118;0.000162)						A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Splice_Site	SNP	ENST00000377844.4	37	c.681_splice	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443370	0.83993	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1442	0.72637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL1	69433579	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.246000	0.72405	2.045000	0.60652	0.455000	0.32223	.		PASS	0.418	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	Intron	3	25	3	25	---	---	---	---
CLYBL	171425	broad.mit.edu	37	13	100518518	100518518	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr13:100518518T>A	ENST00000376360.1	+	6	686	c.659T>A	c.(658-660)cTg>cAg	p.L220Q	CLYBL_ENST00000339105.4_Missense_Mutation_p.L220Q|CLYBL_ENST00000444838.2_Missense_Mutation_p.L186Q|CLYBL_ENST00000376354.1_Missense_Mutation_p.L186Q|CLYBL_ENST00000376355.3_Missense_Mutation_p.L186Q			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	220						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.L220Q(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGAAACCCTGGATATTCTC	0.423																																						uc001vok.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)CTG>CAG		citrate lyase beta like precursor							93.0	99.0	97.0					13																	100518518		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518518T>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.659T>A	13.37:g.100518518T>A	ENSP00000365538:p.Leu220Gln					CLYBL_uc010tix.1_Missense_Mutation_p.W221R|CLYBL_uc010tiy.1_Missense_Mutation_p.L186Q	p.L220Q	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			6	673	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		220					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.659T>A	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	T	5.640	0.302675	0.10678	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.75	-0.109	0.13584	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.552996	0.22273	N	0.062238	T	0.15262	0.0368	N	0.12569	0.235	0.23260	N	0.998027	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.009	T	0.24977	-1.0145	10	0.22706	T	0.39	-3.583	11.6388	0.51220	0.3924:0.0:0.0:0.6076	.	186;220	B4DU60;Q8N0X4	.;CLYBL_HUMAN	Q	186;220;186;186;220	ENSP00000365533:L186Q;ENSP00000365538:L220Q;ENSP00000404768:L186Q;ENSP00000365532:L186Q;ENSP00000342991:L220Q	ENSP00000342991:L220Q	L	+	2	0	CLYBL	99316519	0.354000	0.24912	0.948000	0.38648	0.902000	0.53008	1.100000	0.31025	0.120000	0.18254	-0.347000	0.07816	CTG		PASS	0.423	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			22	37	22	37	---	---	---	---
CLYBL	171425	broad.mit.edu	37	13	100543577	100543577	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr13:100543577C>A	ENST00000376360.1	+	8	960	c.933C>A	c.(931-933)gcC>gcA	p.A311A	CLYBL_ENST00000339105.4_Silent_p.A311A|CLYBL_ENST00000376354.1_Silent_p.A277A|CLYBL_ENST00000376355.3_Silent_p.A277A			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	311						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.A311A(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCAGGGGGCCTTTACTTTCC	0.413																																						uc001vok.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)GCC>GCA		citrate lyase beta like precursor							110.0	105.0	106.0					13																	100543577		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100543577C>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.933C>A	13.37:g.100543577C>A							p.A311A	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			8	947	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		311					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.933C>A	CCDS32002.1																																																																																				PASS	0.413	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			3	41	3	41	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20483023	20483023	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:20483023C>A	ENST00000305045.2	-	1	329	c.330G>T	c.(328-330)ggG>ggT	p.G110G		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G110G(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCATCTCAGCCCCACCAGTAA	0.453																																						uc010tky.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(328-330)GGG>GGT		olfactory receptor, family 4, subfamily K,							100.0	97.0	98.0					14																	20483023		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483023C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.330G>T	14.37:g.20483023C>A							p.G110G	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	330	-	all_cancers(95;0.00108)		110			Helical; Name=3; (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.330G>T	CCDS32027.1																																																																																				PASS	0.453	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			9	24	9	24	---	---	---	---
OR10G3	26533	broad.mit.edu	37	14	22038649	22038649	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:22038649G>T	ENST00000303532.1	-	1	226	c.227C>A	c.(226-228)tCc>tAc	p.S76Y		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S76Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GACAATGATGGAGGAGATGCT	0.478																																						uc010tmb.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(226-228)TCC>TAC		olfactory receptor, family 10, subfamily G,							67.0	63.0	64.0					14																	22038649		2203	4300	6503	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038649G>T		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.227C>A	14.37:g.22038649G>T	ENSP00000302437:p.Ser76Tyr						p.S76Y	NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	227	-	all_cancers(95;0.000987)		76			Helical; Name=2; (Potential).		Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.227C>A	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120963	0.77436	.	.	ENSG00000169208	ENST00000303532	T	0.00408	7.54	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.449418	0.18884	N	0.128488	T	0.01730	0.0055	H	0.96662	3.86	0.38509	D	0.948432	P	0.44776	0.843	P	0.53954	0.738	T	0.06285	-1.0835	10	0.87932	D	0	-23.3004	15.2134	0.73244	0.0:0.0:1.0:0.0	.	76	Q8NGC4	O10G3_HUMAN	Y	76	ENSP00000302437:S76Y	ENSP00000302437:S76Y	S	-	2	0	OR10G3	21108489	0.934000	0.31675	0.946000	0.38457	0.912000	0.54170	5.169000	0.64984	2.239000	0.73571	0.585000	0.79938	TCC		PASS	0.478	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			7	20	7	20	---	---	---	---
C14orf93	60686	broad.mit.edu	37	14	23465173	23465173	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:23465173C>T	ENST00000299088.6	-	3	1331	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	C14orf93_ENST00000397377.1_Missense_Mutation_p.R121Q|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.R301Q|C14orf93_ENST00000397382.4_Missense_Mutation_p.R301Q|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.R301Q|C14orf93_ENST00000406429.2_Missense_Mutation_p.R301Q|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	301						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.R301Q(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TACAAGATCCCGCTTGCGCCT	0.527																																						uc001wib.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(901-903)CGG>CAG		hypothetical protein LOC60686 precursor							90.0	84.0	86.0					14																	23465173		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23465173C>T	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.902G>A	14.37:g.23465173C>T	ENSP00000299088:p.Arg301Gln					C14orf93_uc001wic.1_Missense_Mutation_p.R121Q|C14orf93_uc001wid.1_Missense_Mutation_p.R301Q|C14orf93_uc001wig.2_Missense_Mutation_p.R301Q|C14orf93_uc001wih.2_Missense_Mutation_p.R301Q|C14orf93_uc001wie.2_Missense_Mutation_p.R301Q|C14orf93_uc001wia.3_Missense_Mutation_p.R301Q|C14orf93_uc001wif.2_Missense_Mutation_p.R121Q	p.R301Q	NM_021944	NP_068763	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	3	1212	-	all_cancers(95;3.3e-05)		301					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.902G>A	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232375	0.79688	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429;ENST00000397376	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.49	5.49	0.81192	.	0.128287	0.39475	N	0.001342	T	0.67477	0.2897	L	0.29908	0.895	0.36670	D	0.878456	D;D	0.89917	0.998;1.0	D;D	0.81914	0.986;0.995	T	0.74405	-0.3676	10	0.87932	D	0	-28.934	18.1451	0.89652	0.0:1.0:0.0:0.0	.	301;301	Q9H972;Q9H972-2	CN093_HUMAN;.	Q	301;301;301;301;121;301;121	ENSP00000299088:R301Q;ENSP00000341353:R301Q;ENSP00000380535:R301Q;ENSP00000380538:R301Q;ENSP00000380533:R121Q;ENSP00000384768:R301Q;ENSP00000380532:R121Q	ENSP00000299088:R301Q	R	-	2	0	C14orf93	22535013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.304000	0.59104	2.592000	0.87571	0.655000	0.94253	CGG		PASS	0.527	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		10	65	10	65	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31856449	31856449	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:31856449A>G	ENST00000389961.3	-	7	1047	c.1048T>C	c.(1048-1050)Tgc>Cgc	p.C350R	HEATR5A_ENST00000439348.1_Missense_Mutation_p.C350R|HEATR5A_ENST00000404677.3_Missense_Mutation_p.C356R|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C63R|HEATR5A_ENST00000543095.2_Missense_Mutation_p.C356R			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	350								p.C350R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGGCGACAGCAGACGGCATCG	0.458																																						uc001wrf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(187-189)TGC>CGC		HEAT repeat containing 5A							123.0	115.0	118.0					14																	31856449		1904	4126	6030	SO:0001583	missense	25938						binding	g.chr14:31856449A>G	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1048T>C	14.37:g.31856449A>G	ENSP00000374611:p.Cys350Arg					HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Missense_Mutation_p.C356R	p.C63R	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	2	264	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		350					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.187T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.54|11.54	1.669778|1.669778	0.29693|0.29693	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.62639|.	3.18;3.18;0.01;3.18;3.18|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.350255|.	0.33895|.	N|.	0.004450|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	P|.	0.49783|.	0.928|.	P|.	0.45071|.	0.468|.	T|T	0.53961|0.53961	-0.8364|-0.8364	10|5	0.62326|.	D|.	0.03|.	.|.	12.6675|12.6675	0.56849|0.56849	0.8531:0.1469:0.0:0.0|0.8531:0.1469:0.0:0.0	.|.	356|.	B5MC49|.	.|.	R|P	350;350;63;356;356|14	ENSP00000374611:C350R;ENSP00000405407:C350R;ENSP00000408681:C63R;ENSP00000437968:C356R;ENSP00000384646:C356R|.	ENSP00000374611:C350R|.	C|L	-|-	1|2	0|0	HEATR5A|HEATR5A	30926200|30926200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.493000|0.493000	0.33554|0.33554	5.846000|5.846000	0.69444|0.69444	2.160000|2.160000	0.67779|0.67779	0.402000|0.402000	0.26972|0.26972	TGC|CTG		PASS	0.458	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		7	56	7	56	---	---	---	---
NUBPL	80224	broad.mit.edu	37	14	32034246	32034246	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:32034246A>T	ENST00000281081.7	+	3	328	c.283A>T	c.(283-285)Aac>Tac	p.N95Y		NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	95					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.N95Y(1)|p.N65Y(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		ACTAGCAGCGAACGATTCGGT	0.254																																						uc001wrk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(283-285)AAC>TAC		nucleotide binding protein-like							34.0	33.0	33.0					14																	32034246		1784	4052	5836	SO:0001583	missense	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32034246A>T	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.283A>T	14.37:g.32034246A>T	ENSP00000281081:p.Asn95Tyr					NUBPL_uc010amj.2_RNA	p.N95Y	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	3	338	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		95					B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	c.283A>T	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555132	0.45487	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000551314	T;T	0.32988	1.43;2.22	5.41	5.41	0.78517	.	0.041137	0.85682	D	0.000000	T	0.33177	0.0854	L	0.38733	1.17	0.80722	D	1	P	0.51537	0.946	P	0.48704	0.587	T	0.07829	-1.0752	10	0.62326	D	0.03	-7.2955	13.2625	0.60113	1.0:0.0:0.0:0.0	.	95	Q8TB37	NUBPL_HUMAN	Y	95;95;43	ENSP00000447618:N95Y;ENSP00000281081:N95Y	ENSP00000281081:N95Y	N	+	1	0	NUBPL	31103997	1.000000	0.71417	0.934000	0.37439	0.631000	0.37964	4.227000	0.58612	2.173000	0.68751	0.533000	0.62120	AAC		PASS	0.254	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		19	40	19	40	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51210134	51210134	+	Splice_Site	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:51210134C>A	ENST00000382041.3	-	24	5491	c.5301G>T	c.(5299-5301)aaG>aaT	p.K1767N	NIN_ENST00000382043.4_Splice_Site_p.K1054N|NIN_ENST00000245441.5_Splice_Site_p.K1767N|NIN_ENST00000324330.9_Splice_Site_p.K1767N|NIN_ENST00000389868.3_Splice_Site_p.K1054N|NIN_ENST00000453196.1_Splice_Site_p.K1767N|NIN_ENST00000530997.2_Splice_Site_p.K1767N	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1767					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.K1767N(2)|p.K1773N(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTCCATGTACCTTTTCCTGAG	0.433			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(5299-5301)AAG>AAT		ninein isoform 5							173.0	148.0	156.0					14																	51210134		2203	4300	6503	SO:0001630	splice_region_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51210134C>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5301+1G>T	14.37:g.51210134C>A						NIN_uc001wyi.2_Missense_Mutation_p.K1767N|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K1054N|NIN_uc010tqp.1_Missense_Mutation_p.K1773N|NIN_uc001wyo.2_Missense_Mutation_p.K1767N	p.K1767N	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			24	5492	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1767			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.5301G>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.81|16.81	3.226298|3.226298	0.58668|0.58668	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.36|5.36	3.55|3.55	0.40652|0.40652	.|.	.|0.155077	.|0.56097	.|D	.|0.000025	T|T	0.75324|0.75324	0.3834|0.3834	M|M	0.71581|0.71581	2.175|2.175	0.41833|0.41833	D|D	0.990083|0.990083	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.995;1.0	.|D;D;D;P;D	.|0.83275	.|0.991;0.996;0.996;0.883;0.996	T|T	0.74917|0.74917	-0.3501|-0.3501	5|9	.|.	.|.	.|.	-28.8188|-28.8188	11.2067|11.2067	0.48773|0.48773	0.0:0.8487:0.0:0.1513|0.0:0.8487:0.0:0.1513	.|.	.|1773;1767;1767;1054;1767	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	C|N	1258|1767;1750;1054;1054;1773;1767;1767;1767	.|ENSP00000245441:K1767N;ENSP00000374518:K1054N;ENSP00000371474:K1054N;ENSP00000371472:K1767N;ENSP00000324210:K1767N;ENSP00000412391:K1767N	.|.	G|K	-|-	1|3	0|2	NIN|NIN	50279884|50279884	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.637000|0.637000	0.38172|0.38172	3.592000|3.592000	0.53993|0.53993	0.768000|0.768000	0.33290|0.33290	0.563000|0.563000	0.77884|0.77884	GGT|AAG		PASS	0.433	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	Missense_Mutation	14	25	14	25	---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51446134	51446134	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:51446134G>T	ENST00000298355.3	-	9	3162	c.2041C>A	c.(2041-2043)Cct>Act	p.P681T	TRIM9_ENST00000338969.5_Missense_Mutation_p.P762T	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	681	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.P681T(1)|p.P762T(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)					CTGACCGCAGGGAAGAAGAGG	0.507																																						uc001wyx.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|lung(1)	3						c.(2041-2043)CCT>ACT		tripartite motif protein 9 isoform 1							128.0	132.0	130.0					14																	51446134		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.chr14:51446134G>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.2041C>A	14.37:g.51446134G>T	ENSP00000298355:p.Pro681Thr					TRIM9_uc001wyy.2_Missense_Mutation_p.P762T	p.P681T	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			9	2806	-	all_epithelial(31;0.00418)|Breast(41;0.148)		681			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.2041C>A	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236737	0.95240	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	D;D	0.94232	-3.38;-2.35	5.89	5.89	0.94794	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98413	1.0573	10	0.87932	D	0	.	19.2409	0.93883	0.0:0.0:1.0:0.0	.	762;681	Q9C026-4;Q9C026	.;TRIM9_HUMAN	T	681;762	ENSP00000298355:P681T;ENSP00000342970:P762T	ENSP00000298355:P681T	P	-	1	0	TRIM9	50515884	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.869000	0.99810	2.788000	0.95919	0.557000	0.71058	CCT		PASS	0.507	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		42	80	42	80	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52907324	52907324	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:52907324T>G	ENST00000281741.4	-	19	2332	c.1961A>C	c.(1960-1962)aAg>aCg	p.K654T	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	654					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.K654T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GTATTTCTGCTTTACCAGTGT	0.294																																						uc001wzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1960-1962)AAG>ACG		thioredoxin domain containing 16 isoform 1							80.0	76.0	77.0					14																	52907324		2203	4297	6500	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52907324T>G	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1961A>C	14.37:g.52907324T>G	ENSP00000281741:p.Lys654Thr					TXNDC16_uc010tqu.1_Missense_Mutation_p.K649T|TXNDC16_uc010aoe.2_RNA	p.K654T	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			19	2410	-	Breast(41;0.0716)		654					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1961A>C	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	7.160	0.585497	0.13749	.	.	ENSG00000087301	ENST00000281741	T	0.28454	1.61	5.2	2.86	0.33363	.	0.298471	0.36303	N	0.002663	T	0.27489	0.0675	L	0.54323	1.7	0.23180	N	0.998166	B;B	0.32653	0.379;0.12	B;B	0.35182	0.197;0.124	T	0.15009	-1.0452	10	0.44086	T	0.13	-32.9388	7.108	0.25374	0.0:0.2579:0.0:0.7421	.	649;654	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	654	ENSP00000281741:K654T	ENSP00000281741:K654T	K	-	2	0	TXNDC16	51977074	0.003000	0.15002	0.283000	0.24790	0.208000	0.24298	0.590000	0.23954	0.321000	0.23259	0.482000	0.46254	AAG		PASS	0.294	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		10	28	10	28	---	---	---	---
PSMC6	5706	broad.mit.edu	37	14	53178142	53178142	+	Missense_Mutation	SNP	A	A	G	rs11545962		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:53178142A>G	ENST00000606149.1	+	6	357	c.341A>G	c.(340-342)gAg>gGg	p.E114G	PSMC6_ENST00000445930.2_Missense_Mutation_p.E128G	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)	p.E114G(1)|p.E128G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTGCCGAGAGAGGTGGATCCA	0.373																																						uc010tqx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(382-384)GAG>GGG		proteasome 26S ATPase subunit 6							134.0	138.0	136.0					14																	53178142		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53178142A>G		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.341A>G	14.37:g.53178142A>G	ENSP00000475721:p.Glu114Gly					PSMC6_uc010tqw.1_Missense_Mutation_p.E94G	p.E128G	NM_002806	NP_002797	P62333	PRS10_HUMAN			6	383	+	Breast(41;0.176)		114					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.383A>G		.	.	.	.	.	.	.	.	.	.	A	22.5	4.299787	0.81136	.	.	ENSG00000100519	ENST00000445930	D	0.94650	-3.48	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.98507	4.25	0.80722	D	1	D;D	0.69078	0.997;0.982	P;P	0.61477	0.889;0.889	D	0.99548	1.0965	10	0.87932	D	0	.	14.7652	0.69634	1.0:0.0:0.0:0.0	rs11545962	114;94	P62333;B4DR91	PRS10_HUMAN;.	G	128	ENSP00000401802:E128G	ENSP00000401802:E128G	E	+	2	0	PSMC6	52247892	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.847000	0.92166	1.960000	0.56953	0.529000	0.55759	GAG		PASS	0.373	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		27	96	27	96	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65249149	65249149	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:65249149G>A	ENST00000389721.5	-	19	4157	c.4125C>T	c.(4123-4125)ctC>ctT	p.L1375L	SPTB_ENST00000389722.3_Silent_p.L1375L|SPTB_ENST00000556626.1_Silent_p.L1375L|SPTB_ENST00000542895.1_Silent_p.L1375L|SPTB_ENST00000389720.3_Silent_p.L1375L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1375					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.L1375L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGCAGCCGAGAGGTGCTGGG	0.632																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4123-4125)CTC>CTT		spectrin beta isoform b							98.0	97.0	97.0					14																	65249149		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65249149G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4125C>T	14.37:g.65249149G>A						SPTB_uc001xhr.2_Silent_p.L1375L|SPTB_uc001xhs.2_Silent_p.L1375L|SPTB_uc001xhu.2_Silent_p.L1375L|SPTB_uc010aqi.2_Silent_p.L36L	p.L1375L	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	19	4179	-		all_lung(585;4.15e-09)	1375			Spectrin 11.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4125C>T	CCDS32100.1																																																																																				PASS	0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			20	65	20	65	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71514572	71514572	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:71514572C>T	ENST00000304743.2	+	22	4655	c.4209C>T	c.(4207-4209)tcC>tcT	p.S1403S	PCNX_ENST00000238570.5_Silent_p.S1403S|PCNX_ENST00000439984.3_Silent_p.S1292S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1403						integral component of membrane (GO:0016021)		p.S1403S(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)		TGCTACGATCCTCTTTTAGCA	0.378																																						uc001xmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4207-4209)TCC>TCT		pecanex-like 1							238.0	203.0	215.0					14																	71514572		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71514572C>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.4209C>T	14.37:g.71514572C>T						PCNX_uc010are.1_Silent_p.S1292S|PCNX_uc010arf.1_Silent_p.S263S	p.S1403S	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)	22	4655	+			1403					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.4209C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948918	0.18356	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.32	-0.311	0.12761	.	.	.	.	.	T	0.40815	0.1132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27536	-1.0071	4	.	.	.	.	1.557	0.02586	0.3262:0.3615:0.1053:0.2071	.	.	.	.	L	462	.	.	P	+	2	0	PCNX	70584325	0.912000	0.30974	0.921000	0.36526	0.863000	0.49368	0.070000	0.14573	0.256000	0.21614	0.591000	0.81541	CCT		PASS	0.378	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		19	85	19	85	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75019063	75019063	+	Missense_Mutation	SNP	C	C	T	rs370158492		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:75019063C>T	ENST00000261978.4	-	6	1612	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.R409H|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	409	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R409H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCGATGCAGCGGCCTCCGTT	0.642																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(1225-1227)CGC>CAC		latent transforming growth factor beta binding			HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	34.0	35.0	35.0		1226	3.9	1.0	14		35	0,8596		0,0,4298	no	missense	LTBP2	NM_000428.2	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	409/1822	75019063	1,13001	2203	4298	6501	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75019063C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1226G>A	14.37:g.75019063C>T	ENSP00000261978:p.Arg409His						p.R409H	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	6	1613	-			409			EGF-like 2.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1226G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179906	0.57800	2.27E-4	0.0	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.38077	1.16;1.16	4.9	3.9	0.45041	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.40728	N	0.001037	T	0.25606	0.0623	L	0.27053	0.805	0.29878	N	0.826302	B	0.23128	0.08	B	0.17722	0.019	T	0.15150	-1.0447	10	0.51188	T	0.08	.	11.2943	0.49269	0.0:0.9068:0.0:0.0932	.	409	Q14767	LTBP2_HUMAN	H	409	ENSP00000261978:R409H;ENSP00000451477:R409H	ENSP00000261978:R409H	R	-	2	0	LTBP2	74088816	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.758000	0.47565	0.860000	0.35481	0.550000	0.68814	CGC		PASS	0.642	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		6	20	6	20	---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77706943	77706943	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:77706943G>T	ENST00000298351.4	+	13	1200	c.1056G>T	c.(1054-1056)atG>atT	p.M352I		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	352					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.M352I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACTCCAGGATGGCCAAGCGGT	0.627																																						uc001xtf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)ATG>ATT		transmembrane protein 63C							34.0	40.0	38.0					14																	77706943		2059	4182	6241	SO:0001583	missense	57156					integral to membrane		g.chr14:77706943G>T		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1056G>T	14.37:g.77706943G>T	ENSP00000298351:p.Met352Ile					TMEM63C_uc010asq.1_Missense_Mutation_p.M352I	p.M352I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	13	1268	+			352					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1056G>T	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270400	0.40194	.	.	ENSG00000165548	ENST00000298351	T	0.29142	1.58	4.92	4.01	0.46588	Domain of unknown function DUF221 (1);	0.123466	0.64402	D	0.000001	T	0.29321	0.0730	L	0.54323	1.7	0.44816	D	0.997829	B	0.19445	0.036	B	0.26310	0.068	T	0.05920	-1.0856	10	0.18710	T	0.47	-23.6652	12.6543	0.56778	0.0819:0.0:0.9181:0.0	.	352	Q9P1W3	TM63C_HUMAN	I	352	ENSP00000298351:M352I	ENSP00000298351:M352I	M	+	3	0	TMEM63C	76776696	1.000000	0.71417	0.935000	0.37517	0.976000	0.68499	3.977000	0.56874	1.188000	0.43014	0.462000	0.41574	ATG		PASS	0.627	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			10	13	10	13	---	---	---	---
SAMD15	161394	broad.mit.edu	37	14	77844701	77844701	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:77844701G>A	ENST00000216471.4	+	1	1226	c.940G>A	c.(940-942)Gac>Aac	p.D314N	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	314								p.D314N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGACTTTCCAGACCACAAGCC	0.448																																						uc001xtq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)GAC>AAC		hypothetical protein LOC161394							79.0	80.0	80.0					14																	77844701		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844701G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.940G>A	14.37:g.77844701G>A	ENSP00000216471:p.Asp314Asn					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.D314N	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	940	+			314					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.940G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289045	0.40494	.	.	ENSG00000100583	ENST00000216471	T	0.30448	1.53	4.97	1.6	0.23607	.	2.202610	0.02282	N	0.069495	T	0.30448	0.0765	L	0.46157	1.445	0.09310	N	1	P	0.35011	0.48	B	0.33960	0.173	T	0.28299	-1.0048	10	0.34782	T	0.22	-0.0039	9.2854	0.37753	0.2965:0.0:0.7035:0.0	.	314	Q9P1V8	SAM15_HUMAN	N	314	ENSP00000216471:D314N	ENSP00000216471:D314N	D	+	1	0	SAMD15	76914454	0.001000	0.12720	0.000000	0.03702	0.279000	0.26890	0.317000	0.19487	0.496000	0.27904	0.555000	0.69702	GAC		PASS	0.448	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		11	29	11	29	---	---	---	---
KCNK13	56659	broad.mit.edu	37	14	90650582	90650582	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:90650582C>A	ENST00000282146.4	+	2	903	c.462C>A	c.(460-462)gcC>gcA	p.A154A		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	154					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A154A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATCATCGCCTACATCATGA	0.572																																						uc001xye.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(460-462)GCC>GCA		potassium channel, subfamily K, member 13							92.0	95.0	94.0					14																	90650582		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650582C>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.462C>A	14.37:g.90650582C>A							p.A154A	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	904	+		all_cancers(154;0.186)	154			Cytoplasmic (Potential).		B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.462C>A	CCDS9889.1																																																																																				PASS	0.572	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		37	56	37	56	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92909799	92909799	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:92909799C>A	ENST00000532405.1	+	7	864	c.638C>A	c.(637-639)tCt>tAt	p.S213Y	SLC24A4_ENST00000351924.5_Missense_Mutation_p.S196Y|SLC24A4_ENST00000393265.2_Missense_Mutation_p.S149Y|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S196Y|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S213Y			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	213					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.S196Y(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TACACCATCTCTGTCATCGTG	0.647																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(586-588)TCT>TAT		solute carrier family 24 member 4 isoform 1							221.0	145.0	171.0					14																	92909799		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92909799C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.638C>A	14.37:g.92909799C>A	ENSP00000431840:p.Ser213Tyr					SLC24A4_uc001yai.2_Missense_Mutation_p.S149Y|SLC24A4_uc010twm.1_Missense_Mutation_p.S213Y|SLC24A4_uc001yaj.2_Missense_Mutation_p.S196Y|SLC24A4_uc010auj.2_Missense_Mutation_p.S104Y|SLC24A4_uc010twn.1_Translation_Start_Site	p.S196Y	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	7	611	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	213			Helical; (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.587C>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641713	0.87859	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.11	5.11	0.69529	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	H	0.94385	3.53	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.992	D	0.89069	0.3468	10	0.66056	D	0.02	.	16.7187	0.85404	0.0:1.0:0.0:0.0	.	213;149;213	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	Y	149;213;213;196;196	ENSP00000376948:S149Y;ENSP00000433302:S213Y;ENSP00000431840:S213Y;ENSP00000298877:S196Y;ENSP00000337789:S196Y	ENSP00000298877:S196Y	S	+	2	0	SLC24A4	91979552	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.399000	0.79935	2.373000	0.80994	0.561000	0.74099	TCT		PASS	0.647	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		10	19	10	19	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94053224	94053224	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:94053224C>A	ENST00000393151.2	+	22	3002	c.3002C>A	c.(3001-3003)gCc>gAc	p.A1001D	UNC79_ENST00000256339.4_Missense_Mutation_p.A824D|UNC79_ENST00000553484.1_Missense_Mutation_p.A1001D|UNC79_ENST00000555664.1_Missense_Mutation_p.A1001D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1001					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A824D(1)|p.A1001D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAATTTTTAGCCTACATTCAG	0.353																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(2470-2472)GCC>GAC		hypothetical protein LOC57578							181.0	170.0	174.0					14																	94053224		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94053224C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3002C>A	14.37:g.94053224C>A	ENSP00000376858:p.Ala1001Asp					KIAA1409_uc001ybs.1_Missense_Mutation_p.A824D	p.A824D	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	19	2554	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1001					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2471C>A		.	.	.	.	.	.	.	.	.	.	C	28.1	4.891748	0.91889	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42649	-0.9439	10	0.66056	D	0.02	-15.9234	20.3736	0.98901	0.0:1.0:0.0:0.0	.	1001	C9JQL1	.	D	824;1001;1001;1001;1001	ENSP00000256339:A824D;ENSP00000450868:A1001D;ENSP00000451360:A1001D;ENSP00000376858:A1001D	ENSP00000256339:A824D	A	+	2	0	KIAA1409	93122977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	2.820000	0.97059	0.650000	0.86243	GCC		PASS	0.353	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		25	113	25	113	---	---	---	---
SETD3	84193	broad.mit.edu	37	14	99879360	99879360	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr14:99879360G>A	ENST00000331768.5	-	8	936	c.777C>T	c.(775-777)ccC>ccT	p.P259P	SETD3_ENST00000436070.2_Silent_p.P259P|SETD3_ENST00000329331.3_Silent_p.P259P	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	259	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.P259P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CATCCTCTGTGGGAATTTGGT	0.463																																						uc001ygc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)CCC>CCT		SET domain containing 3 isoform a							137.0	133.0	134.0					14																	99879360		2203	4300	6503	SO:0001819	synonymous_variant	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99879360G>A	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.777C>T	14.37:g.99879360G>A						SETD3_uc001ygd.2_Silent_p.P259P|SETD3_uc001ygf.2_Silent_p.P259P	p.P259P	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			8	947	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	259			SET.		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	ENST00000331768.5	37	c.777C>T	CCDS9951.1																																																																																				PASS	0.463	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		7	43	7	43	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33855210	33855210	+	Splice_Site	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:33855210A>C	ENST00000389232.4	+	11	1215	c.1145A>C	c.(1144-1146)aAg>aCg	p.K382T	RYR3_ENST00000415757.3_Splice_Site_p.K382T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	382	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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.K382T(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)		CTAAAAAGAAAGGTGAGAGTC	0.453																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1144-1146)AAG>ACG		ryanodine receptor 3							99.0	99.0	99.0					15																	33855210		1851	4083	5934	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33855210A>C		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.1146+1A>C	15.37:g.33855210A>C						RYR3_uc010bar.2_Missense_Mutation_p.K382T	p.K382T	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)	11	1215	+		all_lung(180;7.18e-09)	382			Cytoplasmic (By similarity).|MIR 5.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1145A>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141873	0.77775	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.90261	-2.64;-2.64	5.37	5.37	0.77165	MIR motif (1);MIR (2);	0.054487	0.64402	D	0.000001	D	0.91199	0.7227	L	0.56199	1.76	0.46131	D	0.998883	P;P	0.46142	0.873;0.549	P;B	0.49047	0.599;0.322	D	0.92224	0.5787	10	0.87932	D	0	.	15.1988	0.73120	1.0:0.0:0.0:0.0	.	382;382	Q15413-2;Q15413	.;RYR3_HUMAN	T	382	ENSP00000373884:K382T;ENSP00000399610:K382T	ENSP00000354735:K382T	K	+	2	0	RYR3	31642502	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.741000	0.74837	2.263000	0.75096	0.533000	0.62120	AAG		PASS	0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	14	51	14	51	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33938613	33938613	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:33938613T>A	ENST00000389232.4	+	29	3897	c.3827T>A	c.(3826-3828)tTt>tAt	p.F1276Y	RYR3_ENST00000415757.3_Missense_Mutation_p.F1276Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1276	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.F1276Y(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)		CATAAGACATTTGGCACACAG	0.527																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3826-3828)TTT>TAT		ryanodine receptor 3							221.0	225.0	224.0					15																	33938613		2122	4233	6355	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33938613T>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.3827T>A	15.37:g.33938613T>A	ENSP00000373884:p.Phe1276Tyr					RYR3_uc010bar.2_Missense_Mutation_p.F1276Y	p.F1276Y	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)	29	3897	+		all_lung(180;7.18e-09)	1276			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3827T>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222608	0.58668	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96716	-4.1;-4.1	5.4	5.4	0.78164	B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	M	0.67700	2.07	0.58432	D	0.999999	P;B	0.43477	0.808;0.337	B;B	0.40375	0.327;0.091	D	0.93689	0.7005	10	0.17369	T	0.5	.	15.5807	0.76432	0.0:0.0:0.0:1.0	.	1276;1276	Q15413-2;Q15413	.;RYR3_HUMAN	Y	1276	ENSP00000373884:F1276Y;ENSP00000399610:F1276Y	ENSP00000354735:F1276Y	F	+	2	0	RYR3	31725905	1.000000	0.71417	0.800000	0.32199	0.727000	0.41649	6.095000	0.71439	2.266000	0.75297	0.533000	0.62120	TTT		PASS	0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	87	36	87	---	---	---	---
C15orf41	84529	broad.mit.edu	37	15	36989588	36989588	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:36989588C>A	ENST00000566621.1	+	8	791	c.541C>A	c.(541-543)Cta>Ata	p.L181I	C15orf41_ENST00000562877.1_Missense_Mutation_p.L83I|C15orf41_ENST00000567389.1_Missense_Mutation_p.L83I|C15orf41_ENST00000338183.4_Missense_Mutation_p.L83I|C15orf41_ENST00000437989.2_Missense_Mutation_p.L181I|C15orf41_ENST00000569302.1_Missense_Mutation_p.L181I|C15orf41_ENST00000565792.1_3'UTR	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	181								p.L181I(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CCTGTCCTTCCTAGGTAAGTA	0.408																																						uc001zje.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(541-543)CTA>ATA		hypothetical protein LOC84529 isoform 1							183.0	180.0	181.0					15																	36989588		1902	4128	6030	SO:0001583	missense	84529						protein binding	g.chr15:36989588C>A	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.541C>A	15.37:g.36989588C>A	ENSP00000455397:p.Leu181Ile					C15orf41_uc001zjd.2_Missense_Mutation_p.L181I|C15orf41_uc010bbb.1_Missense_Mutation_p.L83I|C15orf41_uc001zjf.2_Missense_Mutation_p.L83I|C15orf41_uc010uci.1_Missense_Mutation_p.L83I	p.L181I	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	8	791	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	181					B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	c.541C>A	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	C	7.645	0.681606	0.14907	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.44083	0.93	5.5	2.59	0.31030	.	0.070869	0.64402	D	0.000017	T	0.26268	0.0641	L	0.40543	1.245	0.40659	D	0.982118	B	0.06786	0.001	B	0.08055	0.003	T	0.08513	-1.0718	10	0.20046	T	0.44	-7.329	3.6495	0.08198	0.1814:0.4634:0.0:0.3552	.	181	Q9Y2V0	CO041_HUMAN	I	181;83	ENSP00000401362:L181I	ENSP00000342433:L83I	L	+	1	2	C15orf41	34776880	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	0.890000	0.28295	1.326000	0.45319	0.650000	0.86243	CTA		PASS	0.408	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		13	52	13	52	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40477472	40477472	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:40477472G>A	ENST00000287598.6	+	7	1053	c.858G>A	c.(856-858)gaG>gaA	p.E286E	BUB1B_ENST00000412359.3_Silent_p.E300E	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E286E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTACAGCAGAGTTGTCTAAGC	0.483			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(856-858)GAG>GAA		budding uninhibited by benzimidazoles 1 beta							108.0	113.0	111.0					15																	40477472		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40477472G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.858G>A	15.37:g.40477472G>A						BUB1B_uc010ucl.1_Silent_p.E149E	p.E286E	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	7	1070	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	286					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.858G>A	CCDS10053.1																																																																																				PASS	0.483	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			20	68	20	68	---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40587238	40587238	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:40587238C>T	ENST00000260402.3	-	18	2054	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	PLCB2_ENST00000557821.1_Missense_Mutation_p.R598H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R602H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	602	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R598H(1)|p.R602H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGGGTAAATGCGGCTCATCTG	0.567																																						uc001zld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(1804-1806)CGC>CAC		phospholipase C, beta 2							151.0	161.0	158.0					15																	40587238		2200	4300	6500	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40587238C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1805G>A	15.37:g.40587238C>T	ENSP00000260402:p.Arg602His					PLCB2_uc010bbo.2_Missense_Mutation_p.R598H|PLCB2_uc010ucm.1_Missense_Mutation_p.R602H	p.R602H	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	18	2106	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	602			PI-PLC Y-box.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1805G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083488	0.94050	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	D;D	0.83250	-1.7;-1.7	4.49	4.49	0.54785	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.94866	0.8341	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97017	0.9740	10	0.87932	D	0	.	17.7338	0.88387	0.0:1.0:0.0:0.0	.	602;598;602	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	602	ENSP00000260402:R602H;ENSP00000411991:R602H	ENSP00000260402:R602H	R	-	2	0	PLCB2	38374530	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	7.609000	0.82925	2.492000	0.84095	0.655000	0.94253	CGC		PASS	0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	94	4	94	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42168377	42168377	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:42168377T>C	ENST00000320955.6	-	21	4284	c.4057A>G	c.(4057-4059)Aag>Gag	p.K1353E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1353					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.K1353E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCGTGCCGCTTGAGTGTCTGC	0.637																																						uc001zos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3952-3954)AAG>GAG		spectrin, beta, non-erythrocytic 5							49.0	55.0	53.0					15																	42168377		2153	4258	6411	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42168377T>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4057A>G	15.37:g.42168377T>C	ENSP00000317790:p.Lys1353Glu						p.K1318E	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	21	4285	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1353			Spectrin 10.			Missense_Mutation	SNP	ENST00000320955.6	37	c.3952A>G		.	.	.	.	.	.	.	.	.	.	.	17.08	3.297144	0.60086	.	.	ENSG00000137877	ENST00000320955	T	0.52754	0.65	5.15	2.72	0.32119	.	0.394192	0.24152	N	0.041072	T	0.51261	0.1664	M	0.64404	1.975	0.20196	N	0.999926	P	0.47484	0.896	P	0.50934	0.654	T	0.40001	-0.9586	10	0.35671	T	0.21	.	9.4144	0.38512	0.2842:0.0:0.0:0.7158	.	1353	Q9NRC6	SPTN5_HUMAN	E	1353	ENSP00000317790:K1353E	ENSP00000317790:K1353E	K	-	1	0	SPTBN5	39955669	0.988000	0.35896	0.193000	0.23327	0.071000	0.16799	2.124000	0.42006	0.241000	0.21283	0.533000	0.62120	AAG		PASS	0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		11	17	11	17	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48533761	48533761	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:48533761C>A	ENST00000558405.1	+	9	1279	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	SLC12A1_ENST00000396577.3_Missense_Mutation_p.T422N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T422N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	422					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.T422N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATTTTCATCACCACTGTTGCC	0.448																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1264-1266)ACC>AAC		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						245.0	231.0	236.0					15																	48533761		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48533761C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1265C>A	15.37:g.48533761C>A	ENSP00000453409:p.Thr422Asn					SLC12A1_uc010uew.1_Missense_Mutation_p.T228N|SLC12A1_uc010bem.2_Missense_Mutation_p.T422N|SLC12A1_uc001zwq.3_Missense_Mutation_p.T193N|SLC12A1_uc001zwr.3_Missense_Mutation_p.T149N	p.T422N	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	10	1481	+		all_lung(180;0.00219)	422			Helical; (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1265C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991394	0.93106	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.99113	-5.44;-5.44	5.48	5.48	0.80851	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.97214	3.96	0.80722	D	1	P;P	0.46912	0.607;0.886	P;P	0.62649	0.67;0.905	D	0.97672	1.0167	10	0.87932	D	0	.	19.3286	0.94275	0.0:1.0:0.0:0.0	.	422;422	E9PDW4;Q13621	.;S12A1_HUMAN	N	235;422;422	ENSP00000370381:T422N;ENSP00000379822:T422N	ENSP00000370381:T422N	T	+	2	0	SLC12A1	46321053	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.747000	0.85070	2.569000	0.86673	0.557000	0.71058	ACC		PASS	0.448	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			26	95	26	95	---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51975481	51975481	+	Missense_Mutation	SNP	G	G	A	rs558891002		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:51975481G>A	ENST00000220478.3	+	4	650	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	83					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.E83K(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GGCAATAACAGAAAAGGAAAA	0.368																																						uc002abh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)GAA>AAA		secretogranin III isoform 1 precursor							148.0	159.0	156.0					15																	51975481		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975481G>A	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.247G>A	15.37:g.51975481G>A	ENSP00000220478:p.Glu83Lys					SCG3_uc010ufz.1_5'UTR	p.E83K	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	655	+			83					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.247G>A	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096252	0.76870	.	.	ENSG00000104112	ENST00000220478	T	0.27557	1.66	6.17	5.21	0.72293	.	0.047074	0.85682	D	0.000000	T	0.40015	0.1100	L	0.32530	0.975	0.80722	D	1	D	0.60575	0.988	P	0.56216	0.794	T	0.13980	-1.0489	10	0.72032	D	0.01	-15.117	17.0967	0.86637	0.0:0.1264:0.8736:0.0	.	83	Q8WXD2	SCG3_HUMAN	K	83	ENSP00000220478:E83K	ENSP00000220478:E83K	E	+	1	0	SCG3	49762773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.690000	0.68241	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.368	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		38	91	38	91	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57731420	57731420	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:57731420G>A	ENST00000281282.5	+	2	1301	c.1223G>A	c.(1222-1224)aGt>aAt	p.S408N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	408	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.S408N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATTGAATTCAGTAGGAACTTG	0.552																																						uc002aeg.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(4)|central_nervous_system(1)	11						c.(1222-1224)AGT>AAT		cingulin-like 1							89.0	90.0	90.0					15																	57731420		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731420G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1223G>A	15.37:g.57731420G>A	ENSP00000281282:p.Ser408Asn					CGNL1_uc010bfw.2_Missense_Mutation_p.S408N	p.S408N	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1299	+			408			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1223G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484479	0.26598	.	.	ENSG00000128849	ENST00000281282	T	0.09350	2.99	5.91	4.0	0.46444	.	0.000000	0.64402	D	0.000010	T	0.11067	0.0270	L	0.52364	1.645	0.09310	N	1	B	0.30889	0.299	B	0.29176	0.099	T	0.15407	-1.0438	10	0.48119	T	0.1	-22.5769	10.4558	0.44550	0.0719:0.1358:0.7923:0.0	.	408	Q0VF96	CGNL1_HUMAN	N	408	ENSP00000281282:S408N	ENSP00000281282:S408N	S	+	2	0	CGNL1	55518712	0.073000	0.21202	0.097000	0.21041	0.709000	0.40893	1.664000	0.37439	1.460000	0.47911	0.655000	0.94253	AGT		PASS	0.552	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		12	100	12	100	---	---	---	---
SPG21	51324	broad.mit.edu	37	15	65273355	65273355	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:65273355C>A	ENST00000204566.2	-	3	367	c.72G>T	c.(70-72)gtG>gtT	p.V24V	SPG21_ENST00000416889.2_Silent_p.V24V|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000433215.2_Silent_p.V24V	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	24					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.V24V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CATCATCATCCACAATAATCT	0.408																																						uc002aod.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(70-72)GTG>GTT		spastic paraplegia 21 isoform a							74.0	69.0	71.0					15																	65273355		2202	4299	6501	SO:0001819	synonymous_variant	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65273355C>A	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.72G>T	15.37:g.65273355C>A						SPG21_uc002aoe.2_Silent_p.V24V|SPG21_uc010bhb.2_Silent_p.V24V|SPG21_uc010bhc.2_5'UTR	p.V24V	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN			3	165	-			24					B4DW44|Q6ZMB6	Silent	SNP	ENST00000204566.2	37	c.72G>T	CCDS10198.1																																																																																				PASS	0.408	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		3	46	3	46	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68661615	68661615	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:68661615C>A	ENST00000315757.7	-	3	258	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L	ITGA11_ENST00000423218.2_Missense_Mutation_p.V58L	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	58					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.V58L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGGGCGCCCACGACCAGCCTG	0.562																																						uc002ari.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(172-174)GTG>TTG		integrin, alpha 11 precursor	Tirofiban(DB00775)						86.0	86.0	86.0					15																	68661615		1946	4148	6094	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68661615C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.172G>T	15.37:g.68661615C>A	ENSP00000327290:p.Val58Leu					ITGA11_uc010bib.2_Missense_Mutation_p.V58L	p.V58L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			3	259	-			58			FG-GAP 1.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.172G>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301205	0.81136	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.75260	-0.92;-0.92	4.96	4.04	0.47022	.	0.136511	0.49305	D	0.000155	D	0.88481	0.6448	M	0.93241	3.395	0.46185	D	0.998913	D;D	0.89917	0.994;1.0	P;D	0.87578	0.901;0.998	D	0.90070	0.4162	10	0.87932	D	0	.	11.3713	0.49702	0.0:0.9102:0.0:0.0898	.	58;58	A8K8T0;Q9UKX5	.;ITA11_HUMAN	L	58	ENSP00000327290:V58L;ENSP00000403392:V58L	ENSP00000327290:V58L	V	-	1	0	ITGA11	66448669	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.734000	0.62043	1.086000	0.41228	0.561000	0.74099	GTG		PASS	0.562	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		13	20	13	20	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69320642	69320642	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:69320642C>A	ENST00000388866.3	+	3	303	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	NOX5_ENST00000455873.3_Missense_Mutation_p.L81M|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.L88M|NOX5_ENST00000260364.5_Missense_Mutation_p.L70M|NOX5_ENST00000448182.3_Missense_Mutation_p.L70M	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	88	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.L70M(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCACTGACCCTGCTCATCCA	0.557																																						uc002ars.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(262-264)CTG>ATG		NADPH oxidase, EF-hand calcium binding domain 5							149.0	130.0	136.0					15																	69320642		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69320642C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.262C>A	15.37:g.69320642C>A	ENSP00000373518:p.Leu88Met					NOX5_uc002arp.1_Missense_Mutation_p.L70M|NOX5_uc002arq.1_Missense_Mutation_p.L70M|NOX5_uc010bid.1_Missense_Mutation_p.L81M|NOX5_uc002arr.1_Missense_Mutation_p.L88M|NOX5_uc010bie.1_Translation_Start_Site	p.L88M	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			3	282	+			88			Cytoplasmic (Potential).|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.|EF-hand 2.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.262C>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577656	0.45902	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T;T	0.69306	-0.39;-0.39;1.44;-0.39	3.66	3.66	0.41972	EF-hand-like domain (1);	0.000000	0.64402	D	0.000005	T	0.75125	0.3807	L	0.50993	1.605	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.98	T	0.73372	-0.4003	10	0.31617	T	0.26	-7.2445	13.9371	0.64032	0.0:1.0:0.0:0.0	.	81;88;88	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	M	81;70;88;88	ENSP00000416828:L81M;ENSP00000410887:L70M;ENSP00000373518:L88M;ENSP00000432440:L88M	ENSP00000373518:L88M	L	+	1	2	NOX5	67107696	1.000000	0.71417	0.921000	0.36526	0.144000	0.21451	4.519000	0.60517	1.595000	0.50050	0.491000	0.48974	CTG		PASS	0.557	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		64	62	64	62	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80762560	80762560	+	Splice_Site	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:80762560G>T	ENST00000303329.4	+	4	361	c.196G>T	c.(196-198)Gag>Tag	p.E66*	ARNT2_ENST00000533983.1_Splice_Site_p.E55*|ARNT2_ENST00000527771.1_Splice_Site_p.E55*	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	66	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E66*(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTGGAAAGAGAGAATCATAG	0.463																																						uc002bfr.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(196-198)GAG>TAG		aryl hydrocarbon receptor nuclear translocator							50.0	47.0	48.0					15																	80762560		2203	4300	6503	SO:0001630	splice_region_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80762560G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.195-1G>T	15.37:g.80762560G>T						ARNT2_uc002bfq.2_Nonsense_Mutation_p.E66*|ARNT2_uc010unm.1_Nonsense_Mutation_p.E55*|ARNT2_uc002bfs.2_Nonsense_Mutation_p.E55*	p.E66*	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		4	362	+			66			Basic motif.		B4DIS7|O15024|Q8IYC2	Nonsense_Mutation	SNP	ENST00000303329.4	37	c.196G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	39	7.720382	0.98453	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9143	0.92499	0.0:0.0:1.0:0.0	.	.	.	.	X	55;66;66	.	ENSP00000307479:E66X	E	+	1	0	ARNT2	78549615	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.186000	0.94906	2.703000	0.92315	0.650000	0.86243	GAG		PASS	0.463	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		Nonsense_Mutation	5	8	5	8	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88799374	88799374	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr15:88799374G>C	ENST00000360948.2	-	2	172	c.11C>G	c.(10-12)tCt>tGt	p.S4C	NTRK3_ENST00000558676.1_Missense_Mutation_p.S4C|NTRK3_ENST00000355254.2_Missense_Mutation_p.S4C|NTRK3_ENST00000317501.3_Missense_Mutation_p.S4C|NTRK3_ENST00000557856.1_Missense_Mutation_p.S4C|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000540489.2_Missense_Mutation_p.S4C|NTRK3_ENST00000394480.2_Missense_Mutation_p.S4C|NTRK3_ENST00000357724.2_Missense_Mutation_p.S4C	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	4					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S4C(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGGCAAAGAGAGACATCCAT	0.572			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(10-12)TCT>TGT		neurotrophic tyrosine kinase, receptor, type 3							152.0	130.0	137.0					15																	88799374		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88799374G>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.11C>G	15.37:g.88799374G>C	ENSP00000354207:p.Ser4Cys	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.S4C|NTRK3_uc002bmf.1_Missense_Mutation_p.S4C|NTRK3_uc010bnh.1_Missense_Mutation_p.S4C|NTRK3_uc002bmg.2_Missense_Mutation_p.S4C	p.S4C	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		2	173	-			4					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.11C>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	g	14.89	2.671540	0.47781	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000540489;ENST00000317501	T;T;T;T;T;T	0.74421	-0.84;-0.79;-0.79;-0.84;-0.02;-0.02	3.59	3.59	0.41128	.	.	.	.	.	T	0.63498	0.2516	N	0.08118	0	0.27663	N	0.947022	P;P;D;D;P	0.69078	0.704;0.704;0.997;0.972;0.704	B;B;P;P;B	0.52881	0.043;0.043;0.712;0.634;0.271	T	0.56269	-0.8007	9	0.62326	D	0.03	.	8.3336	0.32202	0.1151:0.0:0.8849:0.0	.	4;4;4;4;4	E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	C	4	ENSP00000377990:S4C;ENSP00000354207:S4C;ENSP00000350356:S4C;ENSP00000347397:S4C;ENSP00000444673:S4C;ENSP00000318328:S4C	ENSP00000318328:S4C	S	-	2	0	NTRK3	86600378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.142000	0.50601	1.728000	0.51552	0.450000	0.29827	TCT		PASS	0.572	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				7	21	7	21	---	---	---	---
UQCRC2	7385	broad.mit.edu	37	16	21968570	21968570	+	Silent	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:21968570C>G	ENST00000268379.4	+	2	812	c.48C>G	c.(46-48)ctC>ctG	p.L16L	UQCRC2_ENST00000561553.1_Silent_p.L16L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	16					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L16L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TTTATTCCCTCAAAGTTGCCC	0.458																																					Colon(123;450 1645 12841 25393 45623)	uc002djx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(46-48)CTC>CTG		ubiquinol-cytochrome c reductase core protein II							83.0	84.0	84.0					16																	21968570		2198	4300	6498	SO:0001819	synonymous_variant	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21968570C>G	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.48C>G	16.37:g.21968570C>G						UQCRC2_uc002djy.2_Silent_p.L16L|UQCRC2_uc010bxa.2_RNA	p.L16L	NM_003366	NP_003357	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	2	184	+			16					B3KSN4|Q9BQ05	Silent	SNP	ENST00000268379.4	37	c.48C>G	CCDS10601.1																																																																																				PASS	0.458	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		5	26	5	26	---	---	---	---
CACNG3	10368	broad.mit.edu	37	16	24358077	24358077	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:24358077G>C	ENST00000005284.3	+	2	1436	c.234G>C	c.(232-234)aaG>aaC	p.K78N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	78					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.K78N(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCGTGTGCAAGAAAATCGATC	0.577																																						uc002dmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)AAG>AAC		voltage-dependent calcium channel gamma-3							81.0	77.0	78.0					16																	24358077		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358077G>C	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.234G>C	16.37:g.24358077G>C	ENSP00000005284:p.Lys78Asn						p.K78N	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	2	1434	+			78						Missense_Mutation	SNP	ENST00000005284.3	37	c.234G>C	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174295	0.57692	.	.	ENSG00000006116	ENST00000005284	D	0.90133	-2.62	5.61	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.93344	0.7878	L	0.59436	1.845	0.52501	D	0.999953	D	0.71674	0.998	D	0.72625	0.978	D	0.91784	0.5438	10	0.25751	T	0.34	-16.3225	14.6805	0.69015	0.0709:0.0:0.9291:0.0	.	78	O60359	CCG3_HUMAN	N	78	ENSP00000005284:K78N	ENSP00000005284:K78N	K	+	3	2	CACNG3	24265578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.021000	0.49651	1.514000	0.48869	-0.150000	0.13652	AAG		PASS	0.577	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		21	33	21	33	---	---	---	---
XPO6	23214	broad.mit.edu	37	16	28123164	28123164	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:28123164G>A	ENST00000304658.5	-	17	2815	c.2315C>T	c.(2314-2316)cCa>cTa	p.P772L	XPO6_ENST00000565698.1_Missense_Mutation_p.P758L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	772					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.P772L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTTTCTCTGTGGGGCAACAGC	0.567																																						uc002dpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2314-2316)CCA>CTA		exportin 6							77.0	80.0	79.0					16																	28123164		2097	4213	6310	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28123164G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2315C>T	16.37:g.28123164G>A	ENSP00000302790:p.Pro772Leu					XPO6_uc002dpb.1_Missense_Mutation_p.P758L|XPO6_uc010vcp.1_Missense_Mutation_p.P772L	p.P772L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			17	2816	-			772					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2315C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943365	0.53079	.	.	ENSG00000169180	ENST00000304658	T	0.41758	0.99	5.77	5.77	0.91146	Armadillo-type fold (1);	0.218505	0.48286	N	0.000185	T	0.37293	0.0998	L	0.43152	1.355	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.06405	0.001;0.002	T	0.10567	-1.0624	10	0.20046	T	0.44	-0.3245	17.4866	0.87691	0.0:0.0:1.0:0.0	.	772;772	B7ZM10;Q96QU8	.;XPO6_HUMAN	L	772	ENSP00000302790:P772L	ENSP00000302790:P772L	P	-	2	0	XPO6	28030665	0.999000	0.42202	0.748000	0.31131	0.989000	0.77384	4.515000	0.60489	2.745000	0.94114	0.650000	0.86243	CCA		PASS	0.567	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		17	21	17	21	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28511049	28511049	+	IGR	SNP	G	G	T	rs373848919		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:28511049G>T	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.R219R			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R219R(1)|p.R219W(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGCAACTCCCGCACGGCCCGA	0.667																																						uc002dqc.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)		0						c.(655-657)CGG>AGG		interleukin 27 precursor							32.0	32.0	32.0					16																	28511049		2196	4298	6494	SO:0001628	intergenic_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28511049G>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511049G>T						uc010vct.1_Intron	p.R219R	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			5	678	-			219					H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37	c.655C>A																																																																																					PASS	0.667	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		3	15	3	15	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31388586	31388586	+	Splice_Site	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:31388586G>T	ENST00000268296.4	+	23	2910	c.2789G>T	c.(2788-2790)aGc>aTc	p.S930I	ITGAX_ENST00000562522.1_Splice_Site_p.S930I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	930					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.S930I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGGTTAGCAGGTCAGCAGGT	0.498																																						uc002ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2788-2790)AGC>ATC		integrin alpha X precursor							92.0	96.0	95.0					16																	31388586		2197	4300	6497	SO:0001630	splice_region_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31388586G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2789+1G>T	16.37:g.31388586G>T						ITGAX_uc002ebt.2_Missense_Mutation_p.S930I	p.S930I	NM_000887	NP_000878	P20702	ITAX_HUMAN			23	2856	+			930			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2789G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405875	0.25378	.	.	ENSG00000140678	ENST00000268296	T	0.48522	0.81	3.02	3.02	0.34903	Integrin alpha-2 (1);	.	.	.	.	T	0.66197	0.2765	M	0.81112	2.525	0.29666	N	0.842867	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.60801	-0.7191	9	0.66056	D	0.02	.	8.1996	0.31417	0.0:0.2486:0.7514:0.0	.	930;115	P20702;Q8TES5	ITAX_HUMAN;.	I	930	ENSP00000268296:S930I	ENSP00000268296:S930I	S	+	2	0	ITGAX	31296087	1.000000	0.71417	0.868000	0.34077	0.053000	0.15095	2.680000	0.46918	1.666000	0.50821	0.390000	0.25778	AGC		PASS	0.498	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	Missense_Mutation	29	38	29	38	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31925796	31925796	+	Splice_Site	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:31925796G>T	ENST00000300870.10	+	4	435		c.e4-1		ZNF267_ENST00000394846.3_Splice_Site	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ATATCTTTCAGATGTGTTTTC	0.318																																						uc002ecs.3																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.e4-1		zinc finger protein 267							44.0	47.0	46.0					16																	31925796		2196	4297	6493	SO:0001630	splice_region_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925796G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.227-1G>T	16.37:g.31925796G>T							p.D76_splice	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	436	+								A0JNZ9|Q8NE41|Q9NRJ0	Splice_Site	SNP	ENST00000300870.10	37	c.227_splice	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.764833	0.31228	.	.	ENSG00000185947	ENST00000300870	.	.	.	1.13	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6948	0.28587	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF267	31833297	0.980000	0.34600	0.318000	0.25279	0.640000	0.38277	0.976000	0.29462	0.555000	0.29079	0.305000	0.20034	.		PASS	0.318	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	Intron	10	33	10	33	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47622821	47622821	+	Silent	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:47622821A>T	ENST00000323584.5	+	10	900	c.876A>T	c.(874-876)acA>acT	p.T292T	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Silent_p.T292T|PHKB_ENST00000455779.1_Silent_p.T285T|PHKB_ENST00000566044.1_Silent_p.T285T	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	292					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.T292T(2)|p.T285T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCCAGAATACAGATGCTGCCC	0.443																																						uc002eev.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(874-876)ACA>ACT		phosphorylase kinase, beta isoform a							86.0	78.0	80.0					16																	47622821		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47622821A>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.876A>T	16.37:g.47622821A>T						PHKB_uc002eeu.3_Silent_p.T285T	p.T292T	NM_000293	NP_000284	Q93100	KPBB_HUMAN			10	928	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	292					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.876A>T	CCDS10729.1																																																																																				PASS	0.443	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			24	32	24	32	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55523690	55523690	+	Silent	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:55523690A>T	ENST00000219070.4	+	7	1643	c.1134A>T	c.(1132-1134)acA>acT	p.T378T	MMP2_ENST00000543485.1_Silent_p.T302T|MMP2_ENST00000570308.1_Silent_p.T302T|MMP2_ENST00000437642.2_Silent_p.T328T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	378	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.T378T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GTGCGACCACAGCCAACTACG	0.582																																						uc002ehz.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1132-1134)ACA>ACT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						108.0	89.0	95.0					16																	55523690		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523690A>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1134A>T	16.37:g.55523690A>T						MMP2_uc010vhd.1_Silent_p.T302T|MMP2_uc010ccc.2_Silent_p.T328T	p.T378T	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1445	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	378			Fibronectin type-II 3.|Collagen-binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1134A>T	CCDS10752.1																																																																																				PASS	0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			15	37	15	37	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56926012	56926012	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:56926012C>G	ENST00000563236.1	+	20	2411	c.2386C>G	c.(2386-2388)Cca>Gca	p.P796A	SLC12A3_ENST00000262502.5_Missense_Mutation_p.P795A|SLC12A3_ENST00000438926.2_Missense_Mutation_p.P796A|SLC12A3_ENST00000566786.1_Missense_Mutation_p.P795A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	796					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.P796A(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)	CGTGTTTGACCCAGCGGAGGA	0.587																																						uc010ccm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2386-2388)CCA>GCA		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						134.0	126.0	129.0					16																	56926012		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56926012C>G		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.2386C>G	16.37:g.56926012C>G	ENSP00000456149:p.Pro796Ala					SLC12A3_uc002ekd.3_Missense_Mutation_p.P796A|SLC12A3_uc010ccn.2_Missense_Mutation_p.P795A	p.P796A	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			20	2415	+			796			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2386C>G	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	7.268	0.606621	0.14002	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.0	5.0	0.66597	.	0.361310	0.28865	N	0.013897	T	0.21307	0.0513	N	0.08118	0	0.25590	N	0.986701	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.10268	-1.0637	9	0.10902	T	0.67	.	12.2925	0.54827	0.0:0.8155:0.1845:0.0	.	795;796;796	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	A	795;796	.	ENSP00000262502:P796A	P	+	1	0	SLC12A3	55483513	0.969000	0.33509	0.996000	0.52242	0.792000	0.44763	1.815000	0.38981	2.496000	0.84212	0.655000	0.94253	CCA		PASS	0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			34	49	34	49	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61859003	61859003	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:61859003C>A	ENST00000577390.1	-	5	1702	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	CDH8_ENST00000577730.1_Missense_Mutation_p.G250C|CDH8_ENST00000299345.6_Missense_Mutation_p.G250C|CDH8_ENST00000584337.1_Missense_Mutation_p.G250C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	250	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.G250C(2)		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)		GAGTGTCCACCCATATCTTTG	0.448																																						uc002eog.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)|breast(1)	9						c.(748-750)GGT>TGT		cadherin 8, type 2 preproprotein							135.0	120.0	125.0					16																	61859003		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61859003C>A	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.748G>T	16.37:g.61859003C>A	ENSP00000462701:p.Gly250Cys					CDH8_uc002eoh.2_Missense_Mutation_p.G19C	p.G250C	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	1000	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	250			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.748G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172423	0.94807	.	.	ENSG00000150394	ENST00000299345	T	0.65916	-0.18	6.02	6.02	0.97574	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83462	0.0054	10	0.62326	D	0.03	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	66;250	Q3LID3;P55286	.;CADH8_HUMAN	C	250	ENSP00000299345:G250C	ENSP00000299345:G250C	G	-	1	0	CDH8	60416504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.857000	0.98124	0.650000	0.86243	GGT		PASS	0.448	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		17	40	17	40	---	---	---	---
CES3	23491	broad.mit.edu	37	16	66998388	66998388	+	Missense_Mutation	SNP	C	C	A	rs201442270		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:66998388C>A	ENST00000303334.4	+	5	760	c.689C>A	c.(688-690)gCc>gAc	p.A230D	CES3_ENST00000394037.1_Missense_Mutation_p.A230D|RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000543856.1_5'Flank	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	230						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.A230D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGTGGATCTGCCGGTGGGAGC	0.592																																						uc002eqt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(688-690)GCC>GAC		carboxylesterase 3 precursor							98.0	101.0	100.0					16																	66998388		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66998388C>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.689C>A	16.37:g.66998388C>A	ENSP00000304782:p.Ala230Asp					CES3_uc010cdz.2_Missense_Mutation_p.A230D|CES3_uc010cea.2_RNA|CES3_uc010viw.1_5'Flank	p.A230D	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	5	762	+		Ovarian(137;0.0563)	230					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.689C>A	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774203	0.69992	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.78924	-1.22;-1.22	4.13	2.11	0.27256	Carboxylesterase, type B (1);	0.179987	0.27172	N	0.020587	D	0.91026	0.7177	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89725	0.3922	10	0.87932	D	0	.	8.171	0.31254	0.0:0.7502:0.1592:0.0906	.	230	Q6UWW8	EST3_HUMAN	D	230	ENSP00000304782:A230D;ENSP00000377602:A230D	ENSP00000304782:A230D	A	+	2	0	CES3	65555889	0.958000	0.32768	0.001000	0.08648	0.013000	0.08279	3.050000	0.49877	0.460000	0.27045	0.655000	0.94253	GCC		PASS	0.592	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		4	18	4	18	---	---	---	---
ATP6V0D1	9114	broad.mit.edu	37	16	67487556	67487556	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:67487556G>C	ENST00000290949.3	-	2	343	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	ATP6V0D1_ENST00000602876.1_5'UTR|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.L65V	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	65					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.L65V(1)		large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GACACCGTCAGAGGTGATGCC	0.542																																						uc002ete.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)CTG>GTG		ATPase, H+ transporting, lysosomal, V0 subunit							164.0	129.0	140.0					16																	67487556		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67487556G>C	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.193C>G	16.37:g.67487556G>C	ENSP00000290949:p.Leu65Val					ATP6V0D1_uc010vjo.1_Missense_Mutation_p.L65V|ATP6V0D1_uc010vjn.1_5'UTR	p.L65V	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	2	293	-		Ovarian(137;0.0563)	65					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.193C>G	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690917	0.48097	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.30448	1.53;1.53	5.62	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.52933	0.1765	M	0.72353	2.195	0.80722	D	1	D;D	0.61697	0.99;0.979	D;D	0.72982	0.979;0.973	T	0.53954	-0.8365	10	0.46703	T	0.11	-12.2156	13.4196	0.60989	0.0765:0.0:0.9235:0.0	.	65;65	F5GYQ1;P61421	.;VA0D1_HUMAN	V	65	ENSP00000290949:L65V;ENSP00000441282:L65V	ENSP00000290949:L65V	L	-	1	2	ATP6V0D1	66045057	1.000000	0.71417	0.954000	0.39281	0.016000	0.09150	6.632000	0.74281	1.367000	0.46095	0.563000	0.77884	CTG		PASS	0.542	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		14	48	14	48	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68844241	68844241	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:68844241C>T	ENST00000261769.5	+	6	1020	c.829C>T	c.(829-831)Cca>Tca	p.P277S	CDH1_ENST00000422392.2_Missense_Mutation_p.P277S|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	277	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (found in gastric carcinoma cell lines). {ECO:0000269|PubMed:8127895}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.G274_P277del(3)|p.P277S(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGGTGCTCTTCCAGGTATATC	0.448			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		8	Unknown(4)|Deletion - In frame(3)|Substitution - Missense(1)	p.G274_P277del(2)|p.?(2)	breast(4)|stomach(3)|lung(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(829-831)CCA>TCA		cadherin 1, type 1 preproprotein							93.0	93.0	93.0					16																	68844241		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68844241C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.829C>T	16.37:g.68844241C>T	ENSP00000261769:p.Pro277Ser					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.P277S	p.P277S	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	6	953	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	277		Missing (found in gastric carcinoma cell lines).	Cadherin 2.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.829C>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979952	0.74360	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.50813	0.73;0.73	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000156	T	0.66771	0.2823	M	0.64404	1.975	0.34038	D	0.654644	P;D	0.89917	0.925;1.0	P;D	0.79108	0.621;0.992	T	0.75803	-0.3189	10	0.59425	D	0.04	.	17.5624	0.87910	0.0:1.0:0.0:0.0	.	277;277	Q9UII8;P12830	.;CADH1_HUMAN	S	277	ENSP00000261769:P277S;ENSP00000414946:P277S	ENSP00000261769:P277S	P	+	1	0	CDH1	67401742	0.976000	0.34144	0.997000	0.53966	0.949000	0.60115	2.407000	0.44565	2.510000	0.84645	0.557000	0.71058	CCA		PASS	0.448	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		13	87	13	87	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70170101	70170101	+	Silent	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:70170101T>A	ENST00000288050.4	+	10	1959	c.1002T>A	c.(1000-1002)ccT>ccA	p.P334P	PDPR_ENST00000568530.1_Silent_p.P334P|PDPR_ENST00000398122.3_Silent_p.P234P|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	334					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.P334P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GCTCAGAGCCTCTGTTGAGTT	0.443																																						uc002eyf.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1000-1002)CCT>CCA		pyruvate dehydrogenase phosphatase regulatory							29.0	30.0	30.0					16																	70170101		1835	4064	5899	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70170101T>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1002T>A	16.37:g.70170101T>A						CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.P234P|PDPR_uc002eyg.1_Silent_p.P62P	p.P334P	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	10	1959	+			334					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.1002T>A	CCDS45520.1																																																																																				PASS	0.443	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		4	9	4	9	---	---	---	---
KARS	3735	broad.mit.edu	37	16	75665710	75665710	+	Missense_Mutation	SNP	C	C	G	rs527981017		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:75665710C>G	ENST00000302445.3	-	8	998	c.959G>C	c.(958-960)cGc>cCc	p.R320P	KARS_ENST00000319410.5_Missense_Mutation_p.R348P|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	320					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.R348P(1)|p.R320P(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CCGGAACTGGCGTCCAATTTC	0.458																																						uc002feq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(958-960)CGC>CCC		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						207.0	189.0	195.0					16																	75665710		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665710C>G	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.959G>C	16.37:g.75665710C>G	ENSP00000303043:p.Arg320Pro					KARS_uc002fer.2_Missense_Mutation_p.R348P|KARS_uc002fes.2_Missense_Mutation_p.R164P	p.R320P	NM_005548	NP_005539	Q15046	SYK_HUMAN			8	1007	-			320					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.959G>C	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203346	0.95033	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.83673	-1.75;-1.75	6.03	6.03	0.97812	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.92691	0.6166	10	0.87932	D	0	-17.1251	19.1349	0.93424	0.0:1.0:0.0:0.0	.	348;320	Q15046-2;Q15046	.;SYK_HUMAN	P	348;320	ENSP00000325448:R348P;ENSP00000303043:R320P	ENSP00000303043:R320P	R	-	2	0	KARS	74223211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	CGC		PASS	0.458	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		28	110	28	110	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77375636	77375636	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:77375636G>C	ENST00000282849.5	-	11	2093	c.1675C>G	c.(1675-1677)Ccc>Gcc	p.P559A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	559	Disintegrin.				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.P559A(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						TCTGCTGCGGGCATAAACTTG	0.413																																						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.(1675-1677)CCC>GCC		ADAM metallopeptidase with thrombospondin type 1							85.0	80.0	82.0					16																	77375636		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77375636G>C	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.1675C>G	16.37:g.77375636G>C	ENSP00000282849:p.Pro559Ala					ADAMTS18_uc010chc.1_Missense_Mutation_p.P147A|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P255A	p.P559A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			11	2094	-			559			Disintegrin.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1675C>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658884	0.88154	.	.	ENSG00000140873	ENST00000282849	T	0.07444	3.19	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	0.965;1.0	P;D	0.83275	0.747;0.996	T	0.00208	-1.1918	10	0.54805	T	0.06	.	18.6781	0.91535	0.0:0.0:1.0:0.0	.	559;559	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	A	559	ENSP00000282849:P559A	ENSP00000282849:P559A	P	-	1	0	ADAMTS18	75933137	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.214000	0.95140	2.760000	0.94817	0.655000	0.94253	CCC		PASS	0.413	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			11	34	11	34	---	---	---	---
VAT1L	57687	broad.mit.edu	37	16	77850859	77850859	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr16:77850859T>C	ENST00000302536.2	+	2	428	c.275T>C	c.(274-276)aTt>aCt	p.I92T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	92							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.I92T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CAAGGGAATATTGACAACCCT	0.448																																						uc002ffg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(274-276)ATT>ACT		vesicle amine transport protein 1 homolog (T.							134.0	123.0	127.0					16																	77850859		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77850859T>C	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.275T>C	16.37:g.77850859T>C	ENSP00000303129:p.Ile92Thr						p.I92T	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			2	372	+			92					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.275T>C	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097326	0.76870	.	.	ENSG00000171724	ENST00000302536	T	0.42900	0.96	5.63	5.63	0.86233	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.21448	0.665	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.55835	-0.8078	10	0.72032	D	0.01	-9.006	15.5101	0.75772	0.0:0.0:0.0:1.0	.	92	Q9HCJ6	VAT1L_HUMAN	T	92	ENSP00000303129:I92T	ENSP00000303129:I92T	I	+	2	0	VAT1L	76408360	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.698000	0.84413	2.149000	0.67028	0.260000	0.18958	ATT		PASS	0.448	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		14	30	14	30	---	---	---	---
FAM57A	79850	broad.mit.edu	37	17	641263	641263	+	Silent	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:641263C>G	ENST00000308278.8	+	3	620	c.384C>G	c.(382-384)ctC>ctG	p.L128L	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Silent_p.L128L	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	128	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L128L(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CGGTCATTCTCTTTGTCCTTG	0.507																																						uc002frp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)CTC>CTG		family with sequence similarity 57, member A							107.0	91.0	97.0					17																	641263		2203	4300	6503	SO:0001819	synonymous_variant	79850					integral to membrane|plasma membrane		g.chr17:641263C>G	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.384C>G	17.37:g.641263C>G						FAM57A_uc002frq.2_Silent_p.L128L|FAM57A_uc002frr.2_Silent_p.L38L	p.L128L	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	425	+			128			TLC.|Helical; (Potential).		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	ENST00000308278.8	37	c.384C>G	CCDS10996.1																																																																																				PASS	0.507	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		12	47	12	47	---	---	---	---
OR1G1	8390	broad.mit.edu	37	17	3030217	3030217	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:3030217C>G	ENST00000328890.2	-	1	658	c.629G>C	c.(628-630)tGt>tCt	p.C210S		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	210					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.C210S(1)		kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GCAAAGCACACAAATGAGTCC	0.507																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)TGT>TCT		olfactory receptor, family 1, subfamily G,							102.0	100.0	101.0					17																	3030217		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030217C>G	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.629G>C	17.37:g.3030217C>G	ENSP00000331545:p.Cys210Ser						p.C210S	NM_003555	NP_003546	P47890	OR1G1_HUMAN			1	629	-			210			Helical; Name=5; (Potential).		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.629G>C	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	C	4.616	0.114433	0.08831	.	.	ENSG00000183024	ENST00000328890	T	0.36157	1.27	4.53	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16854	0.0405	N	0.03999	-0.3	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.26780	-1.0093	9	0.52906	T	0.07	.	9.6106	0.39661	0.0:0.2947:0.5388:0.1665	.	210	P47890	OR1G1_HUMAN	S	210	ENSP00000331545:C210S	ENSP00000331545:C210S	C	-	2	0	OR1G1	2976967	.	.	0.000000	0.03702	0.064000	0.16182	.	.	-0.028000	0.13850	0.523000	0.50628	TGT		PASS	0.507	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			6	33	6	33	---	---	---	---
DLG4	1742	broad.mit.edu	37	17	7100162	7100162	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:7100162C>G	ENST00000399506.2	-	9	1188	c.997G>C	c.(997-999)Ggt>Cgt	p.G333R	DLG4_ENST00000399510.2_Missense_Mutation_p.G376R|DLG4_ENST00000302955.6_Missense_Mutation_p.G330R			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	333	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.G376R(1)|p.G330R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	ATGCCTTCACCGTCCTCGCCA	0.642																																						uc002get.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1126-1128)GGT>CGT		post-synaptic density protein 95 isoform 1							30.0	36.0	34.0					17																	7100162		2115	4253	6368	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7100162C>G	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.997G>C	17.37:g.7100162C>G	ENSP00000382425:p.Gly333Arg					DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.G273R|DLG4_uc010cly.2_Missense_Mutation_p.G330R|DLG4_uc010vto.1_Missense_Mutation_p.G373R	p.G376R	NM_001365	NP_001356	P78352	DLG4_HUMAN			11	2327	-			333			PDZ 3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1126G>C		.	.	.	.	.	.	.	.	.	.	C	27.8	4.867428	0.91511	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.27256	1.68;1.68;1.68	5.28	5.28	0.74379	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.38401	0.1039	N	0.21545	0.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;1.0	T	0.27020	-1.0086	9	0.62326	D	0.03	.	16.4332	0.83860	0.0:1.0:0.0:0.0	.	373;333;330;376	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	R	333;330;376;376;273;376	ENSP00000382425:G333R;ENSP00000307471:G330R;ENSP00000382428:G376R	ENSP00000293813:G376R	G	-	1	0	DLG4	7040886	1.000000	0.71417	0.959000	0.39883	0.954000	0.61252	7.487000	0.81328	2.455000	0.83008	0.655000	0.94253	GGT		PASS	0.642	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		6	7	6	7	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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.(526-528)TGC>TAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>T	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	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.C176Y|TP53_uc002gih.2_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.1_Missense_Mutation_p.C137Y	p.C176Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.527G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		PASS	0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	17	16	17	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7802420	7802420	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:7802420G>T	ENST00000330494.7	+	14	2393	c.2243G>T	c.(2242-2244)cGc>cTc	p.R748L	CHD3_ENST00000380358.4_Missense_Mutation_p.R807L|CHD3_ENST00000358181.4_Missense_Mutation_p.R748L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	748	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R748L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AACTGGCTACGCTTCTCCTGG	0.522																																						uc002gje.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2242-2244)CGC>CTC		chromodomain helicase DNA binding protein 3							131.0	123.0	126.0					17																	7802420		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7802420G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2243G>T	17.37:g.7802420G>T	ENSP00000332628:p.Arg748Leu					CHD3_uc002gjd.2_Missense_Mutation_p.R807L|CHD3_uc002gjf.2_Missense_Mutation_p.R748L	p.R748L	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			14	2393	+		Prostate(122;0.202)	748			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2243G>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806646	0.70682	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91295	-2.82;-2.82;-2.82	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.46442	D	0.000293	D	0.90648	0.7067	N	0.05441	-0.05	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.85130	0.992;0.995;0.997	D	0.92718	0.6189	10	0.62326	D	0.03	-15.2565	19.6995	0.96047	0.0:0.0:1.0:0.0	.	748;748;807	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	L	807;748;748	ENSP00000369716:R807L;ENSP00000350907:R748L;ENSP00000332628:R748L	ENSP00000332628:R748L	R	+	2	0	CHD3	7743145	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.920000	0.87521	2.744000	0.94065	0.561000	0.74099	CGC		PASS	0.522	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		44	41	44	41	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10323421	10323421	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:10323421C>A	ENST00000403437.2	-	3	218	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	42					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.V42L(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGCTCCGCCACAAAGACAGAT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(124-126)GTG>TTG		myosin, heavy chain 8, skeletal muscle,							270.0	261.0	264.0					17																	10323421		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10323421C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.124G>T	17.37:g.10323421C>A	ENSP00000384330:p.Val42Leu					uc002gml.1_Intron	p.V42L	NM_002472	NP_002463	P13535	MYH8_HUMAN			3	219	-			42			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.124G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971068	0.74246	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88741	-2.42	4.59	4.59	0.56863	Myosin, N-terminal, SH3-like (1);	0.000000	0.37577	U	0.002029	D	0.92535	0.7629	M	0.92604	3.325	0.49130	D	0.999759	B	0.17268	0.021	B	0.29176	0.099	D	0.92113	0.5697	10	0.87932	D	0	.	17.5857	0.87981	0.0:1.0:0.0:0.0	.	42	P13535	MYH8_HUMAN	L	42	ENSP00000384330:V42L	ENSP00000252173:V42L	V	-	1	0	MYH8	10264146	1.000000	0.71417	0.957000	0.39632	0.981000	0.71138	4.754000	0.62191	2.395000	0.81488	0.467000	0.42956	GTG		PASS	0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		9	203	9	203	---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21204287	21204287	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:21204287C>G	ENST00000342679.4	+	5	630	c.381C>G	c.(379-381)taC>taG	p.Y127*	MAP2K3_ENST00000316920.6_Nonsense_Mutation_p.Y98*|MAP2K3_ENST00000361818.5_Nonsense_Mutation_p.Y98*	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.Y131*(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCACCTTCTACGGGGCACTAT	0.587																																						uc002gys.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(379-381)TAC>TAG		mitogen-activated protein kinase kinase 3							188.0	161.0	170.0					17																	21204287		2203	4300	6503	SO:0001587	stop_gained	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21204287C>G	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.381C>G	17.37:g.21204287C>G	ENSP00000345083:p.Tyr127*					MAP2K3_uc002gyt.2_Nonsense_Mutation_p.Y98*|MAP2K3_uc002gyu.2_Nonsense_Mutation_p.Y98*	p.Y127*	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	646	+			127			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Nonsense_Mutation	SNP	ENST00000342679.4	37	c.381C>G	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	C	6.741	0.505426	0.12822	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	.	.	.	4.9	-9.5	0.00584	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3091	18.3987	0.90509	0.0:0.261:0.0:0.739	.	.	.	.	X	127;98;98;98;131	.	ENSP00000319139:Y131X	Y	+	3	2	MAP2K3	21144880	0.000000	0.05858	0.677000	0.29947	0.175000	0.22909	-2.765000	0.00783	-1.869000	0.01141	-1.804000	0.00617	TAC		PASS	0.587	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		33	47	33	47	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26114756	26114756	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:26114756G>T	ENST00000313735.6	-	5	648	c.415C>A	c.(415-417)Ctt>Att	p.L139I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	139					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.L139I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TGAGGTAGAAGCTCATCTGGA	0.517																																						uc002gzu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(415-417)CTT>ATT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						156.0	160.0	159.0					17																	26114756		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26114756G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.415C>A	17.37:g.26114756G>T	ENSP00000327251:p.Leu139Ile					NOS2_uc010crh.1_Missense_Mutation_p.L139I|NOS2_uc010wab.1_Missense_Mutation_p.L139I	p.L139I	NM_000625	NP_000616	P35228	NOS2_HUMAN			5	679	-			139					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.415C>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191123	0.78902	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.27890	1.64	5.64	5.64	0.86602	Nitric oxide synthase, oxygenase domain (3);	0.084150	0.51477	D	0.000097	T	0.40297	0.1111	L	0.46567	1.45	0.47214	D	0.999353	B;B	0.30439	0.279;0.113	B;B	0.42653	0.394;0.316	T	0.12016	-1.0564	10	0.35671	T	0.21	.	18.6964	0.91603	0.0:0.0:1.0:0.0	.	139;139	F8WEM3;P35228	.;NOS2_HUMAN	I	139	ENSP00000327251:L139I	ENSP00000305638:L139I	L	-	1	0	NOS2	23138883	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.179000	0.58290	2.676000	0.91093	0.557000	0.71058	CTT		PASS	0.517	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		15	70	15	70	---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30677214	30677214	+	5'UTR	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:30677214G>T	ENST00000321233.6	+	0	64				ZNF207_ENST00000577908.1_5'UTR|ZNF207_ENST00000341711.6_5'UTR|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_5'UTR|ZNF207_ENST00000394670.4_5'UTR|RP11-227G15.3_ENST00000581915.1_RNA|MIR632_ENST00000385193.1_RNA	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207						attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGACGTGGTGGTAGCCGTTGG	0.577																																						hsa-mir-632|MI0003647																			0					0															183.0	175.0	177.0					17																	30677214		1568	3582	5150	SO:0001623	5_prime_UTR_variant	693217							g.chr17:30677214G>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.-91G>T	17.37:g.30677214G>T						ZNF207_uc002hhj.3_5'UTR|ZNF207_uc002hhh.3_5'UTR|ZNF207_uc002hhi.3_5'UTR|ZNF207_uc010csz.2_5'UTR|ZNF207_uc002hhk.1_5'UTR										+								A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	RNA	SNP	ENST00000321233.6	37	c.87G>T	CCDS11271.1																																																																																				PASS	0.577	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			55	75	55	75	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487034	35487034	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:35487034G>T	ENST00000394406.2	-	46	5869	c.5679C>A	c.(5677-5679)ttC>ttA	p.F1893L	ACACA_ENST00000335166.5_Missense_Mutation_p.F1815L|ACACA_ENST00000360679.3_Missense_Mutation_p.F1835L|ACACA_ENST00000361253.5_Missense_Mutation_p.F19L|ACACA_ENST00000353139.5_Missense_Mutation_p.F1930L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1893	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.F1835L(1)|p.F1930L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCAGGACAGTGAAAACCCCTT	0.547																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(5677-5679)TTC>TTA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						189.0	160.0	170.0					17																	35487034		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35487034G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5679C>A	17.37:g.35487034G>T	ENSP00000377928:p.Phe1893Leu					ACACA_uc002hnk.2_Missense_Mutation_p.F1815L|ACACA_uc002hnl.2_Missense_Mutation_p.F1835L|ACACA_uc002hnn.2_Missense_Mutation_p.F1893L|ACACA_uc002hno.2_Missense_Mutation_p.F1930L|ACACA_uc010cuy.2_Missense_Mutation_p.F538L|ACACA_uc010wdc.1_Missense_Mutation_p.F19L	p.F1893L	NM_198836	NP_942133	Q13085	ACACA_HUMAN			46	5870	-		Breast(25;0.00157)|Ovarian(249;0.15)	1893			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.5679C>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496524	0.26861	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36	5.83	2.44	0.29823	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.218177	0.49916	D	0.000140	D	0.86239	0.5885	N	0.01109	-1.01	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.80841	-0.1202	10	0.15499	T	0.54	-15.0906	9.3699	0.38248	0.1487:0.1246:0.7267:0.0	.	592;1930;1893;1835	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	L	1930;1835;1893;1917;1815;592;19	ENSP00000344789:F1930L;ENSP00000353898:F1835L;ENSP00000377928:F1893L;ENSP00000335323:F1815L;ENSP00000354565:F19L	ENSP00000335323:F1815L	F	-	3	2	ACACA	32561147	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.774000	0.55341	1.477000	0.48234	0.655000	0.94253	TTC		PASS	0.547	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		24	87	24	87	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35913322	35913322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:35913322G>A	ENST00000339208.6	-	14	2643	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*	SYNRG_ENST00000394378.2_Nonsense_Mutation_p.Q757*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.Q835*|SYNRG_ENST00000591288.1_Nonsense_Mutation_p.Q674*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.Q756*|SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.Q757*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.Q757*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	835					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.Q835*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGTCAAACTGAACAGAGAGT	0.473																																						uc002hoa.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2503-2505)CAG>TAG		synergin, gamma isoform 1							139.0	123.0	128.0					17																	35913322		2203	4300	6503	SO:0001587	stop_gained	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913322G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2503C>T	17.37:g.35913322G>A	ENSP00000343610:p.Gln835*					SYNRG_uc010wde.1_Nonsense_Mutation_p.Q757*|SYNRG_uc010wdf.1_Nonsense_Mutation_p.Q757*|SYNRG_uc002hoc.2_Nonsense_Mutation_p.Q756*|SYNRG_uc002hoe.2_Nonsense_Mutation_p.Q757*|SYNRG_uc002hod.2_Nonsense_Mutation_p.Q757*|SYNRG_uc010wdg.1_Nonsense_Mutation_p.Q674*|SYNRG_uc002hob.2_Nonsense_Mutation_p.Q835*|SYNRG_uc002hof.2_Nonsense_Mutation_p.Q547*|SYNRG_uc010cvd.1_Nonsense_Mutation_p.Q635*	p.Q835*	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			14	2586	-			835					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Nonsense_Mutation	SNP	ENST00000339208.6	37	c.2503C>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	39	7.356859	0.98235	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.5185	19.5705	0.95413	0.0:0.0:1.0:0.0	.	.	.	.	X	835;674;835;757;757	.	ENSP00000343610:Q674X	Q	-	1	0	SYNRG	32987435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.473	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		16	74	16	74	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46629778	46629778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:46629778G>T	ENST00000470495.1	-	1	1506	c.59C>A	c.(58-60)tCg>tAg	p.S20*	HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Nonsense_Mutation_p.S20*|HOXB3_ENST00000476342.1_Nonsense_Mutation_p.S20*|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Nonsense_Mutation_p.S20*|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	20					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S20*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCCAGGGTACGAGGAATAGCC	0.637																																						uc002inn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(58-60)TCG>TAG		homeobox B3							42.0	49.0	46.0					17																	46629778		2203	4300	6503	SO:0001587	stop_gained	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629778G>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.59C>A	17.37:g.46629778G>T	ENSP00000417207:p.Ser20*					HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Nonsense_Mutation_p.S20*|HOXB3_uc010dbg.2_Nonsense_Mutation_p.S20*|HOXB3_uc002ino.2_Nonsense_Mutation_p.S20*|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Intron	p.S20*	NM_002146	NP_002137	P14651	HXB3_HUMAN			1	459	-			20					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Nonsense_Mutation	SNP	ENST00000470495.1	37	c.59C>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769260	0.31320	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	.	.	.	3.38	2.4	0.29515	.	0.328747	0.28665	U	0.014557	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	8.093	0.30811	0.0:0.0:0.7595:0.2405	.	.	.	.	X	20	.	ENSP00000308252:S20X	S	-	2	0	HOXB3	43984777	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	2.379000	0.44318	0.985000	0.38656	-0.310000	0.09108	TCG		PASS	0.637	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			10	20	10	20	---	---	---	---
HOXB13	10481	broad.mit.edu	37	17	46805521	46805521	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:46805521G>T	ENST00000290295.7	-	1	1019	c.435C>A	c.(433-435)gaC>gaA	p.D145E	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	145					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.D145E(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCACAGACACGTCCAGGTAAC	0.607																																						uc002ioa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)GAC>GAA		homeobox B13							92.0	95.0	94.0					17																	46805521		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805521G>T	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.435C>A	17.37:g.46805521G>T	ENSP00000290295:p.Asp145Glu						p.D145E	NM_006361	NP_006352	Q92826	HXB13_HUMAN			1	591	-			145					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.435C>A	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129855	0.56721	.	.	ENSG00000159184	ENST00000290295	D	0.92446	-3.04	4.69	1.21	0.21127	.	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	M	0.75264	2.295	0.42581	D	0.993216	D	0.89917	1.0	D	0.81914	0.995	D	0.92647	0.6129	10	0.72032	D	0.01	.	8.0978	0.30840	0.6442:0.0:0.3558:0.0	.	145	Q92826	HXB13_HUMAN	E	145	ENSP00000290295:D145E	ENSP00000290295:D145E	D	-	3	2	HOXB13	44160520	0.755000	0.28372	1.000000	0.80357	0.954000	0.61252	-0.063000	0.11655	0.334000	0.23590	-0.379000	0.06801	GAC		PASS	0.607	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		35	75	35	75	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902221	51902221	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:51902221C>A	ENST00000268919.4	+	1	1983	c.1827C>A	c.(1825-1827)acC>acA	p.T609T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	609					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T609T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAAGGATACCACAATTTCAG	0.423																																						uc002iua.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(1825-1827)ACC>ACA		kinesin family member 2B							165.0	154.0	158.0					17																	51902221		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902221C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1827C>A	17.37:g.51902221C>A						uc010wna.1_RNA	p.T609T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1983	+			609					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1827C>A	CCDS32685.1																																																																																				PASS	0.423	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		7	51	7	51	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902243	51902243	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:51902243A>G	ENST00000268919.4	+	1	2005	c.1849A>G	c.(1849-1851)Agc>Ggc	p.S617G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	617					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S617G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAGGGATCTAGCCAATGGCT	0.433																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1849-1851)AGC>GGC		kinesin family member 2B							165.0	154.0	158.0					17																	51902243		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902243A>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1849A>G	17.37:g.51902243A>G	ENSP00000268919:p.Ser617Gly					uc010wna.1_RNA	p.S617G	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	2005	+			617					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1849A>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.506274	0.00992	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73575	-0.76	5.51	-7.58	0.01313	.	1.200890	0.06279	N	0.697109	T	0.53786	0.1818	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39210	-0.9625	10	0.21540	T	0.41	.	10.5328	0.44986	0.1696:0.4235:0.4069:0.0	.	617	Q8N4N8	KIF2B_HUMAN	G	617;505	ENSP00000268919:S617G	ENSP00000268919:S617G	S	+	1	0	KIF2B	49257242	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.185000	0.16958	-1.579000	0.01646	-0.316000	0.08728	AGC		PASS	0.433	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		21	32	21	32	---	---	---	---
CBX2	84733	broad.mit.edu	37	17	77757695	77757695	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr17:77757695G>T	ENST00000310942.4	+	5	557	c.453G>T	c.(451-453)gtG>gtT	p.V151V		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	151					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V151V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGATCCTGGTGGCCAAACCCG	0.622																																						uc002jxc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)GTG>GTT		chromobox homolog 2 isoform 1							47.0	47.0	47.0					17																	77757695		2200	4299	6499	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77757695G>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.453G>T	17.37:g.77757695G>T							p.V151V	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	495	+			151					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.453G>T	CCDS32757.1																																																																																				PASS	0.622	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		10	20	10	20	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6978311	6978311	+	Missense_Mutation	SNP	G	G	A	rs369357135		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:6978311G>A	ENST00000389658.3	-	43	6167	c.6074C>T	c.(6073-6075)aCg>aTg	p.T2025M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2025	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.T2025M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTCCCTCAGCGTGCTCACCGC	0.537																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6073-6075)ACG>ATG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110.0	100.0	104.0					18																	6978311		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6978311G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6074C>T	18.37:g.6978311G>A	ENSP00000374309:p.Thr2025Met					LAMA1_uc010wzj.1_Missense_Mutation_p.T1501M	p.T2025M	NM_005559	NP_005550	P25391	LAMA1_HUMAN			43	6168	-		Colorectal(10;0.172)	2025			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6074C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546684	0.45383	.	.	ENSG00000101680	ENST00000389658	T	0.47869	0.83	5.3	3.48	0.39840	Laminin II (1);	0.259409	0.35870	N	0.002930	T	0.56187	0.1968	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.63597	0.916	T	0.46610	-0.9179	10	0.52906	T	0.07	.	4.5844	0.12275	0.1452:0.1692:0.5725:0.1132	.	2025	P25391	LAMA1_HUMAN	M	2025	ENSP00000374309:T2025M	ENSP00000374309:T2025M	T	-	2	0	LAMA1	6968311	0.050000	0.20438	0.024000	0.17045	0.014000	0.08584	1.478000	0.35442	1.389000	0.46526	0.650000	0.86243	ACG		PASS	0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		15	34	15	34	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13059268	13059268	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:13059268G>A	ENST00000325971.8	+	19	4250	c.2657G>A	c.(2656-2658)aGc>aAc	p.S886N	CEP192_ENST00000430049.2_Missense_Mutation_p.S1007N|CEP192_ENST00000506447.1_Missense_Mutation_p.S1482N			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	886					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S1482N(1)|p.S886N(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTTTGGCCAGCACCGTCACT	0.458																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(4444-4446)AGC>AAC		centrosomal protein 192kDa							151.0	139.0	143.0					18																	13059268		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13059268G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2657G>A	18.37:g.13059268G>A	ENSP00000317156:p.Ser886Asn					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1007N|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.S1223N	p.S1482N	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			21	4525	+			1482					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4445G>A		.	.	.	.	.	.	.	.	.	.	G	11.99	1.804647	0.31961	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.79554	-1.28;-1.28;-1.28	5.08	2.11	0.27256	.	0.328436	0.36268	N	0.002692	D	0.85066	0.5612	M	0.66939	2.045	0.09310	N	1	B;D;P	0.76494	0.063;0.999;0.891	B;D;B	0.68483	0.067;0.958;0.412	T	0.74627	-0.3602	10	0.66056	D	0.02	-2.7343	7.38	0.26849	0.1571:0.3167:0.5261:0.0	.	1007;1482;886	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	N	1482;886;886;1007	ENSP00000427550:S1482N;ENSP00000317156:S886N;ENSP00000389190:S1007N	ENSP00000317156:S886N	S	+	2	0	CEP192	13049268	0.704000	0.27836	0.527000	0.27925	0.058000	0.15608	1.596000	0.36718	0.653000	0.30826	0.591000	0.81541	AGC		PASS	0.458	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		17	57	17	57	---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33271056	33271056	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:33271056G>A	ENST00000269195.5	+	7	1162	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	GALNT1_ENST00000537549.1_Silent_p.T293T	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	353					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T353T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CACCTTACACGTTTCCAGGAG	0.403																																						uc010dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1057-1059)ACG>ACA		polypeptide N-acetylgalactosaminyltransferase 1							175.0	170.0	172.0					18																	33271056		2203	4299	6502	SO:0001819	synonymous_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33271056G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1059G>A	18.37:g.33271056G>A						GALNT1_uc002kyz.3_Silent_p.T293T|GALNT1_uc002kzb.2_Silent_p.T353T	p.T353T	NM_020474	NP_065207	Q10472	GALT1_HUMAN			8	1112	+			353			Lumenal (Potential).		Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.1059G>A	CCDS11915.1																																																																																				PASS	0.403	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		46	57	46	57	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50976950	50976950	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:50976950G>C	ENST00000442544.2	+	23	3926	c.3310G>C	c.(3310-3312)Gtc>Ctc	p.V1104L	DCC_ENST00000581580.1_Missense_Mutation_p.V739L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1104					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.V1104L(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)		GATCATTGTGGTCACCGTTGG	0.527																																						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.(3310-3312)GTC>CTC		netrin receptor DCC precursor							136.0	109.0	118.0					18																	50976950		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.chr18:50976950G>C	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.3310G>C	18.37:g.50976950G>C	ENSP00000389140:p.Val1104Leu					DCC_uc010dpf.1_Missense_Mutation_p.V739L	p.V1104L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3897	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1104			Helical; (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3310G>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408123	0.42715	.	.	ENSG00000187323	ENST00000442544	T	0.58652	0.32	5.67	3.9	0.45041	.	0.079141	0.49916	D	0.000133	T	0.66237	0.2769	L	0.61218	1.895	0.40185	D	0.977338	D	0.56035	0.974	P	0.57911	0.829	T	0.64655	-0.6356	10	0.34782	T	0.22	-3.5087	11.4658	0.50239	0.1484:0.0:0.8516:0.0	.	1104	P43146	DCC_HUMAN	L	1104	ENSP00000389140:V1104L	ENSP00000389140:V1104L	V	+	1	0	DCC	49230948	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.314000	0.78988	0.767000	0.33267	0.650000	0.86243	GTC		PASS	0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		16	17	16	17	---	---	---	---
VPS4B	9525	broad.mit.edu	37	18	61071041	61071041	+	Missense_Mutation	SNP	C	C	A	rs373315578		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:61071041C>A	ENST00000238497.5	-	5	586	c.383G>T	c.(382-384)cGa>cTa	p.R128L	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	128					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.R128L(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CACATTTGGTCGTTCTATAAC	0.348																																						uc002lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(382-384)CGA>CTA		vacuolar protein sorting factor 4B							71.0	64.0	67.0					18																	61071041		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61071041C>A	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.383G>T	18.37:g.61071041C>A	ENSP00000238497:p.Arg128Leu					VPS4B_uc010dpx.2_Missense_Mutation_p.R128L|VPS4B_uc010dpy.2_Missense_Mutation_p.R10L|VPS4B_uc010dpz.1_Missense_Mutation_p.R10L	p.R128L	NM_004869	NP_004860	O75351	VPS4B_HUMAN			5	643	-			128					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.383G>T	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233531	0.58886	.	.	ENSG00000119541	ENST00000238497	D	0.93712	-3.27	5.69	5.69	0.88448	.	0.137128	0.52532	D	0.000068	D	0.87641	0.6228	N	0.21194	0.64	0.80722	D	1	B;B;B	0.20164	0.042;0.042;0.028	B;B;B	0.15484	0.013;0.013;0.013	D	0.83848	0.0261	10	0.87932	D	0	-12.3543	11.1833	0.48642	0.0:0.8584:0.0:0.1416	.	128;128;128	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	L	128	ENSP00000238497:R128L	ENSP00000238497:R128L	R	-	2	0	VPS4B	59222021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.935000	0.56560	2.699000	0.92147	0.650000	0.86243	CGA		PASS	0.348	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		7	21	7	21	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67813010	67813010	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:67813010C>T	ENST00000255674.6	-	18	2605	c.2319G>A	c.(2317-2319)tcG>tcA	p.S773S	RTTN_ENST00000437017.1_Silent_p.S773S|RTTN_ENST00000454359.1_Silent_p.S773S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	773					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S773S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTAATGCTAGCGAACGGACCC	0.383																																						uc002lkp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(2317-2319)TCG>TCA		rotatin							103.0	96.0	98.0					18																	67813010		1842	4092	5934	SO:0001819	synonymous_variant	25914						binding	g.chr18:67813010C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2319G>A	18.37:g.67813010C>T						RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	p.S773S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			18	2387	-		Esophageal squamous(42;0.129)	773					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.2319G>A	CCDS42443.1																																																																																				PASS	0.383	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		16	41	16	41	---	---	---	---
FBXO15	201456	broad.mit.edu	37	18	71740710	71740710	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:71740710C>A	ENST00000419743.2	-	10	1598	c.1519G>T	c.(1519-1521)Ggg>Tgg	p.G507W	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Missense_Mutation_p.G431W	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	507						SCF ubiquitin ligase complex (GO:0019005)		p.G431W(1)|p.G507W(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TATTCAGTCCCAAACCAATGG	0.363																																						uc002lle.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1291-1293)GGG>TGG		F-box protein 15 isoform 1							139.0	137.0	138.0					18																	71740710		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71740710C>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1519G>T	18.37:g.71740710C>A	ENSP00000393154:p.Gly507Trp					FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.G507W	p.G431W	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1627	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	431					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.1291G>T	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.065027	0.76187	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.44083	0.93;0.93	5.77	5.77	0.91146	.	0.105848	0.64402	D	0.000006	T	0.66005	0.2746	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66834	-0.5823	10	0.87932	D	0	-23.5538	19.9969	0.97387	0.0:1.0:0.0:0.0	.	507;431	B3KST3;Q8NCQ5	.;FBX15_HUMAN	W	431;507	ENSP00000269500:G431W;ENSP00000393154:G507W	ENSP00000269500:G431W	G	-	1	0	FBXO15	69891690	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.600000	0.67599	2.740000	0.93945	0.558000	0.71614	GGG		PASS	0.363	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		37	59	37	59	---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77211765	77211765	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr18:77211765G>T	ENST00000427363.2	+	6	1852	c.1852G>T	c.(1852-1854)Ggc>Tgc	p.G618C	NFATC1_ENST00000329101.4_Missense_Mutation_p.G605C|NFATC1_ENST00000318065.5_Missense_Mutation_p.G605C|NFATC1_ENST00000545796.1_Missense_Mutation_p.G146C|NFATC1_ENST00000586434.1_Missense_Mutation_p.G605C|NFATC1_ENST00000592223.1_Missense_Mutation_p.G605C|NFATC1_ENST00000253506.5_Missense_Mutation_p.G618C|NFATC1_ENST00000397790.2_Missense_Mutation_p.G146C|NFATC1_ENST00000587635.1_Silent_p.L589L|NFATC1_ENST00000542384.1_Missense_Mutation_p.G618C|NFATC1_ENST00000591814.1_Missense_Mutation_p.G618C			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	618					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G605C(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GGTCCTGTCTGGCCACAACTT	0.612																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1852-1854)GGC>TGC		nuclear factor of activated T-cells, cytosolic							104.0	100.0	101.0					18																	77211765		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77211765G>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1852G>T	18.37:g.77211765G>T	ENSP00000389377:p.Gly618Cys					NFATC1_uc002lnc.1_Missense_Mutation_p.G618C|NFATC1_uc010xff.1_Silent_p.L589L|NFATC1_uc002lnd.2_Missense_Mutation_p.G618C|NFATC1_uc002lne.2_Missense_Mutation_p.G146C|NFATC1_uc010xfh.1_Missense_Mutation_p.G618C|NFATC1_uc010xfi.1_Missense_Mutation_p.G605C|NFATC1_uc010xfj.1_Missense_Mutation_p.G146C|NFATC1_uc002lnf.2_Missense_Mutation_p.G605C|NFATC1_uc002lng.2_Missense_Mutation_p.G605C|NFATC1_uc010xfk.1_Missense_Mutation_p.G605C	p.G618C	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	6	2305	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	618					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1852G>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.141105	0.77775	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	4.65	4.65	0.58169	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.106321	0.64402	D	0.000004	D	0.98896	0.9626	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99869	1.1093	10	0.87932	D	0	-41.0939	17.5278	0.87805	0.0:0.0:1.0:0.0	.	605;605;618;618;605;618	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.	C	618;618;146;618;605;146;605;582	ENSP00000253506:G618C;ENSP00000380892:G146C;ENSP00000442435:G618C;ENSP00000327850:G605C;ENSP00000439992:G146C	ENSP00000253506:G618C	G	+	1	0	NFATC1	75312753	1.000000	0.71417	0.910000	0.35882	0.721000	0.41392	9.389000	0.97243	2.130000	0.65690	0.563000	0.77884	GGC		PASS	0.612	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		14	30	14	30	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1008638	1008638	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:1008638C>A	ENST00000234389.3	+	7	2507	c.2488C>A	c.(2488-2490)Cac>Aac	p.H830N		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	830					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.H830N(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAGCATCTACCACTTCGCGGG	0.667																																						uc002lqo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2488-2490)CAC>AAC		glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						46.0	41.0	43.0					19																	1008638		2203	4299	6502	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1008638C>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2488C>A	19.37:g.1008638C>A	ENSP00000234389:p.His830Asn					uc002lqp.1_RNA	p.H830N	NM_138690	NP_619635	O60391	NMD3B_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)	7	2488	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	830			Extracellular (Potential).		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.2488C>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135998	0.37728	.	.	ENSG00000116032	ENST00000234389	T	0.48522	0.81	3.78	3.78	0.43462	Ionotropic glutamate receptor (1);	0.000000	0.85682	U	0.000000	T	0.47303	0.1438	N	0.17901	0.54	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.36504	-0.9745	10	0.02654	T	1	.	14.2074	0.65744	0.0:1.0:0.0:0.0	.	830	O60391	NMD3B_HUMAN	N	830	ENSP00000234389:H830N	ENSP00000234389:H830N	H	+	1	0	GRIN3B	959638	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	5.470000	0.66756	1.661000	0.50771	0.462000	0.41574	CAC		PASS	0.667	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			17	15	17	15	---	---	---	---
PCSK4	54760	broad.mit.edu	37	19	1483315	1483315	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:1483315G>A	ENST00000300954.5	-	12	1600	c.1539C>T	c.(1537-1539)ccC>ccT	p.P513P	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4									p.P513P(1)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GCGTGCCCATGGGGCTGGTGA	0.687																																						uc002ltb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1537-1539)CCC>CCT		proprotein convertase subtilisin/kexin type 4							16.0	17.0	16.0					19																	1483315		2200	4289	6489	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1483315G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1539C>T	19.37:g.1483315G>A						PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Silent_p.P325P	p.P513P	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1601	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	513						Silent	SNP	ENST00000300954.5	37	c.1539C>T	CCDS12069.2																																																																																				PASS	0.687	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		9	8	9	8	---	---	---	---
ZNF554	115196	broad.mit.edu	37	19	2834379	2834379	+	Silent	SNP	C	C	T	rs202167387	byFrequency	TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:2834379C>T	ENST00000317243.5	+	5	1344	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	382					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.C382C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		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)		CCTACGGGTGCGGTGAGTGCG	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19448	0.0		0.0	False		,,,				2504	0.0					uc002lwm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1144-1146)TGC>TGT		zinc finger protein 554							42.0	47.0	45.0					19																	2834379		2185	4289	6474	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834379C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1146C>T	19.37:g.2834379C>T						ZNF554_uc002lwl.2_Silent_p.C331C	p.C382C	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1344	+		Hepatocellular(1079;0.137)	382			C2H2-type 4.		Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.1146C>T	CCDS42462.1																																																																																				PASS	0.542	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		12	27	12	27	---	---	---	---
TIMM44	10469	broad.mit.edu	37	19	7997724	7997724	+	Splice_Site	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:7997724C>G	ENST00000270538.3	-	8	1131		c.e8+1		TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.?(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GACTCACTCACCCAGCAAGTC	0.637																																						uc002miz.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8+1		translocase of inner mitochondrial membrane 44							81.0	79.0	80.0					19																	7997724		2203	4300	6503	SO:0001630	splice_region_variant	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7997724C>G	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.862+1G>C	19.37:g.7997724C>G						TIMM44_uc002mja.2_Splice_Site_p.G28_splice|TIMM44_uc010dvx.1_Splice_Site	p.G288_splice	NM_006351	NP_006342	O43615	TIM44_HUMAN			8	864	-								A8K0R9|D6W664|Q8N193	Splice_Site	SNP	ENST00000270538.3	37	c.862_splice	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482439	0.84747	.	.	ENSG00000104980	ENST00000270538	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0111	0.80404	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIMM44	7903724	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.194000	0.77789	2.448000	0.82819	0.655000	0.94253	.		PASS	0.637	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3		Intron	11	43	11	43	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9000454	9000454	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:9000454G>T	ENST00000397910.4	-	54	40733	c.40530C>A	c.(40528-40530)gtC>gtA	p.V13510V	MUC16_ENST00000380951.5_Silent_p.V151V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13512	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V195V(1)|p.V13510V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCCTGAAGGACTCTCTCCG	0.488																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40528-40530)GTC>GTA		mucin 16							172.0	148.0	156.0					19																	9000454		2005	4169	6174	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000454G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40530C>A	19.37:g.9000454G>T						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.V327V|MUC16_uc010xki.1_RNA	p.V13510V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			54	40734	-			13512			SEA 10.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40530C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.134	-0.398524	0.04865	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.9	-1.21	0.09524	.	.	.	.	.	T	0.19765	0.0475	.	.	.	.	.	.	.	.	.	.	.	.	T	0.27123	-1.0083	3	.	.	.	-4.1913	1.1232	0.01729	0.146:0.2256:0.3986:0.2298	.	.	.	.	Y	350	.	.	S	-	2	0	MUC16	8861454	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.369000	0.20416	0.084000	0.17077	0.305000	0.20034	TCC		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	23	15	23	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9006411	9006411	+	Splice_Site	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:9006411G>A	ENST00000397910.4	-	45	39810	c.39607C>T	c.(39607-39609)Ctc>Ttc	p.L13203F	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13205	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L13203F(1)|p.L355F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGCTTGAGCTGTTGGGGA	0.577																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39607-39609)CTC>TTC		mucin 16							87.0	73.0	78.0					19																	9006411		2029	4188	6217	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006411G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39607-1C>T	19.37:g.9006411G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.L20F|MUC16_uc010xki.1_Intron	p.L13203F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			45	39811	-			13205			SEA 8.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39607C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	12.87	2.066741	0.36470	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.67171	-0.25	2.82	1.74	0.24563	SEA (1);	.	.	.	.	T	0.77572	0.4150	M	0.79475	2.455	.	.	.	D;D	0.76494	0.999;0.96	D;D	0.70487	0.969;0.943	T	0.80120	-0.1515	8	0.87932	D	0	-20.0756	7.0405	0.25017	0.0:0.0:0.7294:0.2706	.	20848;13203	Q8WXI7;B5ME49	MUC16_HUMAN;.	F	13203;334	ENSP00000381008:L13203F	ENSP00000381008:L13203F	L	-	1	0	MUC16	8867411	1.000000	0.71417	0.404000	0.26397	0.007000	0.05969	2.551000	0.45820	0.728000	0.32382	-0.556000	0.04195	CTC		PASS	0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	8	19	8	19	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065064	9065064	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:9065064G>T	ENST00000397910.4	-	3	22585	c.22382C>A	c.(22381-22383)aCc>aAc	p.T7461N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7463	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7461N(2)|p.T3094N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTCAGAGGTGGCCAGTAT	0.483																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22381-22383)ACC>AAC		mucin 16							175.0	160.0	165.0					19																	9065064		1950	4148	6098	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065064G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22382C>A	19.37:g.9065064G>T	ENSP00000381008:p.Thr7461Asn						p.T7461N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22586	-			7463			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22382C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.867	0.161214	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.26660	1.72	2.86	-3.94	0.04130	.	.	.	.	.	T	0.15782	0.0380	L	0.32530	0.975	.	.	.	B	0.29716	0.255	B	0.32533	0.147	T	0.33497	-0.9866	8	0.87932	D	0	.	2.6423	0.04974	0.3516:0.0:0.2973:0.3511	.	7461	B5ME49	.	N	7461	ENSP00000381008:T7461N	ENSP00000381008:T7461N	T	-	2	0	MUC16	8926064	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.598000	0.24074	-0.738000	0.04817	-0.232000	0.12228	ACC		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	37	28	37	---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9325318	9325318	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:9325318G>T	ENST00000308682.2	-	1	224	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACAAAGGACAGGTTGGAGAGG	0.552																																						uc002mla.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(196-198)CTG>ATG		olfactory receptor, family 7, subfamily D,							81.0	75.0	77.0					19																	9325318		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325318G>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.196C>A	19.37:g.9325318G>T	ENSP00000310488:p.Leu66Met						p.L66M	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	196	-			66			Helical; Name=2; (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.196C>A	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264735	0.40095	.	.	ENSG00000174667	ENST00000308682	T	0.00590	6.36	4.0	-3.63	0.04529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000324	T	0.02929	0.0087	H	0.95982	3.75	0.30718	N	0.748502	D	0.89917	1.0	D	0.97110	1.0	T	0.02821	-1.1106	10	0.72032	D	0.01	.	5.9518	0.19250	0.3913:0.0:0.4844:0.1243	.	66	Q8NG98	OR7D4_HUMAN	M	66	ENSP00000310488:L66M	ENSP00000310488:L66M	L	-	1	2	OR7D4	9186318	0.106000	0.21978	0.966000	0.40874	0.386000	0.30323	-0.230000	0.09083	-0.438000	0.07232	0.436000	0.28706	CTG		PASS	0.552	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			16	38	16	38	---	---	---	---
CALR	811	broad.mit.edu	37	19	13049502	13049502	+	Silent	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:13049502A>G	ENST00000316448.5	+	1	82	c.9A>G	c.(7-9)ctA>ctG	p.L3L		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	3					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.L3L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CCATGCTGCTATCCGTGCCGC	0.711											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mvu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7-9)CTA>CTG		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						11.0	12.0	12.0					19																	13049502		2193	4282	6475	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13049502A>G	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.9A>G	19.37:g.13049502A>G			OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	684		p.L3L	NM_004343	NP_004334	P27797	CALR_HUMAN			1	89	+			3					Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.9A>G	CCDS12288.1																																																																																				PASS	0.711	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		3	6	3	6	---	---	---	---
IL27RA	9466	broad.mit.edu	37	19	14159970	14159970	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:14159970C>T	ENST00000263379.2	+	10	1371	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	416	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.P416S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTCCCCAGCACCCCTAGTGGG	0.642											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1246-1248)CCC>TCC		class I cytokine receptor precursor							47.0	51.0	49.0					19																	14159970		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14159970C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1246C>T	19.37:g.14159970C>T	ENSP00000263379:p.Pro416Ser		OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	693		p.P416S	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			10	1669	+			416			Extracellular (Potential).|Fibronectin type-III 3.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.1246C>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283041	0.59867	.	.	ENSG00000104998	ENST00000263379	T	0.54479	0.57	4.38	4.38	0.52667	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000377	T	0.59662	0.2210	L	0.29908	0.895	0.26925	N	0.966593	D	0.89917	1.0	D	0.87578	0.998	T	0.53781	-0.8390	10	0.87932	D	0	.	12.3086	0.54915	0.0:1.0:0.0:0.0	.	416	Q6UWB1	I27RA_HUMAN	S	416	ENSP00000263379:P416S	ENSP00000263379:P416S	P	+	1	0	IL27RA	14020970	0.641000	0.27251	0.120000	0.21714	0.056000	0.15407	3.652000	0.54439	2.270000	0.75569	0.448000	0.29417	CCC		PASS	0.642	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		27	23	27	23	---	---	---	---
OR10H5	284433	broad.mit.edu	37	19	15905094	15905094	+	Missense_Mutation	SNP	C	C	G	rs370337382		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:15905094C>G	ENST00000308940.8	+	1	334	c.236C>G	c.(235-237)cCg>cGg	p.P79R		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GCCATCATCCCGCGCATGCTG	0.617																																						uc010xos.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)CCG>CGG		olfactory receptor, family 10, subfamily H,							129.0	106.0	113.0					19																	15905094		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905094C>G	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.236C>G	19.37:g.15905094C>G	ENSP00000310704:p.Pro79Arg						p.P79R	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	236	+			79			Extracellular (Potential).		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.236C>G	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.625030	0.46840	.	.	ENSG00000172519	ENST00000308940	T	0.25749	1.78	3.47	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.49474	0.1559	H	0.98295	4.195	0.31720	N	0.638388	P	0.45902	0.868	P	0.45037	0.467	T	0.68157	-0.5483	10	0.87932	D	0	.	9.9732	0.41768	0.2044:0.7956:0.0:0.0	.	79	Q8NGA6	O10H5_HUMAN	R	79	ENSP00000310704:P79R	ENSP00000310704:P79R	P	+	2	0	OR10H5	15766094	0.999000	0.42202	0.639000	0.29394	0.873000	0.50193	5.297000	0.65704	0.547000	0.28938	0.585000	0.79938	CCG		PASS	0.617	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			34	27	34	27	---	---	---	---
LRRC25	126364	broad.mit.edu	37	19	18507777	18507777	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:18507777A>T	ENST00000339007.3	-	0	650				LRRC25_ENST00000595840.1_De_novo_Start_OutOfFrame	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CCCCCATTCAAGCAACCTACG	0.612																																						uc002niw.2																			0					0						c.(-5--1)GCTTG>GCATG		leucine rich repeat containing 25 precursor							24.0	23.0	24.0					19																	18507777		2203	4296	6499			126364					integral to membrane		g.chr19:18507777A>T	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.-4T>A	19.37:g.18507777A>T						LRRC25_uc002nix.2_Translation_Start_Site		NM_145256	NP_660299	Q8N386	LRC25_HUMAN			1	639	-								Q6IQ00|Q8N9A5	Translation_Start_Site	SNP	ENST00000339007.3	37	c.-3T>A	CCDS12377.1																																																																																				PASS	0.612	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		10	12	10	12	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364156	22364156	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:22364156G>T	ENST00000397121.2	-	3	680	c.363C>A	c.(361-363)gtC>gtA	p.V121V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	121					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.V121V(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)				ATTTATGAAAGACGTTTGCAT	0.333																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)GTC>GTA		zinc finger protein 676							142.0	133.0	136.0					19																	22364156		1991	4194	6185	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364156G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.363C>A	19.37:g.22364156G>T							p.V121V	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	681	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	121					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.363C>A	CCDS42539.1																																																																																				PASS	0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		41	49	41	49	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30500150	30500150	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:30500150G>T	ENST00000542441.2	+	8	1222	c.925G>T	c.(925-927)Gac>Tac	p.D309Y	URI1_ENST00000312051.6_Missense_Mutation_p.D269Y|URI1_ENST00000392271.1_Missense_Mutation_p.D233Y|URI1_ENST00000360605.4_Missense_Mutation_p.D291Y			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	309	Poly-Asp.				cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.D309Y(1)									tgatgacgacgacgacgacaa	0.403																																						uc002nsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(925-927)GAC>TAC		RPB5-mediating protein isoform a							108.0	87.0	94.0					19																	30500150		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30500150G>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.925G>T	19.37:g.30500150G>T	ENSP00000442436:p.Asp309Tyr					C19orf2_uc002nsq.2_Missense_Mutation_p.D291Y|C19orf2_uc002nss.2_Missense_Mutation_p.D269Y|C19orf2_uc002nst.2_Missense_Mutation_p.D233Y	p.D309Y	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	8	955	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	309			Poly-Asp.		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.925G>T	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904095	0.72754	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.34667	1.35;1.35;1.35	5.03	5.03	0.67393	.	1.212120	0.06375	N	0.714177	T	0.50069	0.1594	L	0.29908	0.895	0.46849	D	0.999226	D;D;D	0.69078	0.997;0.994;0.997	D;P;P	0.64776	0.929;0.85;0.85	T	0.18999	-1.0319	10	0.51188	T	0.08	-1.2038	14.0633	0.64812	0.0:0.0:1.0:0.0	.	269;309;306	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	Y	307;233;309;269	ENSP00000376097:D233Y;ENSP00000442436:D309Y;ENSP00000312530:D269Y	ENSP00000312530:D269Y	D	+	1	0	C19orf2	35191990	0.003000	0.15002	0.480000	0.27341	0.012000	0.07955	1.085000	0.30840	2.791000	0.96007	0.491000	0.48974	GAC		PASS	0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		15	20	15	20	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935706	30935706	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:30935706G>T	ENST00000355537.3	+	2	1384	c.1237G>T	c.(1237-1239)Gtg>Ttg	p.V413L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	413					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.V413L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGTGCCTGTGCCCATGGG	0.627																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1237-1239)GTG>TTG		zinc finger protein 536							42.0	43.0	43.0					19																	30935706		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935706G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1237G>T	19.37:g.30935706G>T	ENSP00000347730:p.Val413Leu					ZNF536_uc010edd.1_Missense_Mutation_p.V413L	p.V413L	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1375	+	Esophageal squamous(110;0.0834)		413					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1237G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	5.674	0.308984	0.10733	.	.	ENSG00000198597	ENST00000355537	T	0.08720	3.06	5.44	5.44	0.79542	.	0.254467	0.38778	N	0.001578	T	0.08846	0.0219	L	0.29908	0.895	0.37787	D	0.927239	B;B	0.20368	0.044;0.044	B;B	0.19148	0.024;0.024	T	0.29181	-1.0020	10	0.25106	T	0.35	-9.4504	19.25	0.93921	0.0:0.0:1.0:0.0	.	413;413	A7E228;O15090	.;ZN536_HUMAN	L	413	ENSP00000347730:V413L	ENSP00000347730:V413L	V	+	1	0	ZNF536	35627546	1.000000	0.71417	0.901000	0.35422	0.975000	0.68041	4.380000	0.59581	2.535000	0.85469	0.591000	0.81541	GTG		PASS	0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		20	30	20	30	---	---	---	---
FXYD1	5348	broad.mit.edu	37	19	35632052	35632052	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:35632052G>T	ENST00000588081.1	+	3	169	c.111G>T	c.(109-111)caG>caT	p.Q37H	FXYD1_ENST00000588715.1_Missense_Mutation_p.Q37H|FXYD1_ENST00000351325.4_Missense_Mutation_p.Q37H|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000455515.2_Missense_Mutation_p.Q37H|FXYD7_ENST00000270310.2_5'Flank|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000588607.1_Missense_Mutation_p.Q37H|FXYD7_ENST00000586063.1_5'Flank|FXYD7_ENST00000588265.1_5'Flank|FXYD1_ENST00000589209.1_Missense_Mutation_p.Q37H			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	37					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.Q37H(1)		lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTCCCTGCAGATCGGAGGCC	0.612																																						uc002nyc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CAG>CAT		phospholemman precursor							93.0	72.0	79.0					19																	35632052		2203	4300	6503	SO:0001583	missense	5348				muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35632052G>T		CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"""phospholemman"""	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.111G>T	19.37:g.35632052G>T	ENSP00000467727:p.Gln37His					LGI4_uc002nxy.1_Intron|FXYD1_uc002nyb.1_RNA|FXYD1_uc002nyd.2_Missense_Mutation_p.Q37H|FXYD7_uc010xsp.1_5'Flank|FXYD7_uc002nye.1_5'Flank|FXYD7_uc002nyf.1_5'Flank	p.Q37H	NM_021902	NP_068702	O00168	PLM_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		4	182	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		37			Helical; (Potential).		A8K196	Missense_Mutation	SNP	ENST00000588081.1	37	c.111G>T	CCDS12445.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288928	0.40494	.	.	ENSG00000221857	ENST00000351325;ENST00000455515	T;T	0.67345	-0.26;-0.26	4.48	0.923	0.19413	.	0.397067	0.18679	N	0.134215	T	0.62877	0.2464	.	.	.	0.24615	N	0.993709	P	0.40731	0.728	P	0.46110	0.504	T	0.56697	-0.7936	9	0.87932	D	0	-8.6303	6.3873	0.21568	0.1025:0.3597:0.5378:0.0	.	37	O00168	PLM_HUMAN	H	37	ENSP00000343314:Q37H;ENSP00000393611:Q37H	ENSP00000343314:Q37H	Q	+	3	2	FXYD1	40323892	1.000000	0.71417	0.986000	0.45419	0.334000	0.28698	0.825000	0.27393	0.078000	0.16900	-0.510000	0.04470	CAG		PASS	0.612	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902		9	30	9	30	---	---	---	---
ZNF540	163255	broad.mit.edu	37	19	38103481	38103481	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:38103481A>T	ENST00000592533.1	+	5	1632	c.1300A>T	c.(1300-1302)Act>Tct	p.T434S	ZNF540_ENST00000589117.1_Missense_Mutation_p.T402S|ZNF540_ENST00000316433.4_Missense_Mutation_p.T434S|ZNF540_ENST00000343599.5_Missense_Mutation_p.T434S	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	434					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.T434S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGAATTCATACTGGAGAGAA	0.398																																						uc002ogq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1300-1302)ACT>TCT		zinc finger protein 540							83.0	82.0	82.0					19																	38103481		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38103481A>T	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1300A>T	19.37:g.38103481A>T	ENSP00000466274:p.Thr434Ser					ZNF540_uc002ogu.2_Missense_Mutation_p.T434S|ZNF540_uc010efq.2_Missense_Mutation_p.T402S	p.T434S	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1632	+			434					A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1300A>T	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801157	0.70567	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.24151	1.87	2.39	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23532	0.0569	L	0.33293	1	0.26482	N	0.975083	P;P	0.36162	0.485;0.54	B;B	0.41813	0.252;0.367	T	0.15723	-1.0427	9	0.52906	T	0.07	.	9.4104	0.38489	1.0:0.0:0.0:0.0	.	402;434	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	S	434;402	ENSP00000324598:T434S	ENSP00000324598:T434S	T	+	1	0	ZNF540	42795321	0.000000	0.05858	0.437000	0.26809	0.945000	0.59286	1.049000	0.30392	1.081000	0.41110	0.254000	0.18369	ACT		PASS	0.398	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		20	58	20	58	---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38189147	38189147	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:38189147C>A	ENST00000355202.4	-	5	2480	c.1885G>T	c.(1885-1887)Gcc>Tcc	p.A629S	ZNF607_ENST00000395835.3_Missense_Mutation_p.A628S|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	629					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.A629S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGATATGAGGCACAGTGAAAT	0.368																																						uc002ohc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1885-1887)GCC>TCC		zinc finger protein 607							95.0	87.0	90.0					19																	38189147		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189147C>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1885G>T	19.37:g.38189147C>A	ENSP00000347338:p.Ala629Ser					ZNF607_uc002ohb.1_Missense_Mutation_p.A628S	p.A629S	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2481	-			629			C2H2-type 18.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1885G>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.271650	0.00257	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.14144	2.53;2.53	1.76	-2.21	0.06973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02929	0.0087	N	0.02192	-0.645	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40059	-0.9583	9	0.02654	T	1	.	0.0884	0.00038	0.3427:0.2093:0.1696:0.2784	.	629;628	Q96SK3;F5H141	ZN607_HUMAN;.	S	629;628	ENSP00000347338:A629S;ENSP00000438015:A628S	ENSP00000347338:A629S	A	-	1	0	ZNF607	42880987	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.542000	0.06091	-0.352000	0.08237	-0.475000	0.04921	GCC		PASS	0.368	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		29	65	29	65	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				PASS	0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	12	6	12	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581570	40581570	+	Missense_Mutation	SNP	C	C	T	rs143775764		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:40581570C>T	ENST00000595687.2	-	6	988	c.779G>A	c.(778-780)cGt>cAt	p.R260H	ZNF780A_ENST00000340963.5_Missense_Mutation_p.R260H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R261H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R261H|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R226H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	260					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.R226H(1)|p.R261H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTTTGAGCTACGATTAAAGGA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		22896	0.0		0.001	False		,,,				2504	0.0					uc002omy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(778-780)CGT>CAT		zinc finger protein 780A isoform b		C	HIS/ARG,HIS/ARG,HIS/ARG,	0,4406		0,0,2203	160.0	163.0	162.0		779,782,779,	0.6	0.0	19	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron	ZNF780A	NM_001010880.2,NM_001142577.1,NM_001142578.1,NM_001142579.1	29,29,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,	260/642,261/643,260/642,	40581570	1,13005	2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581570C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.779G>A	19.37:g.40581570C>T	ENSP00000472189:p.Arg260His					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.R260H|ZNF780A_uc010xvh.1_Missense_Mutation_p.R261H	p.R260H	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1004	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		260			C2H2-type 4.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.779G>A	CCDS33026.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.164	1.019401	0.19355	0.0	1.16E-4	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.15718	2.4;2.4	1.73	0.651	0.17817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	L	0.48642	1.525	0.09310	N	1	D;D	0.71674	0.995;0.998	P;P	0.56278	0.626;0.795	T	0.17440	-1.0369	9	0.25106	T	0.35	.	3.3613	0.07188	0.0:0.5543:0.0:0.4457	.	261;260	E9PB48;O75290	.;Z780A_HUMAN	H	260;261;260	ENSP00000400997:R261H;ENSP00000341507:R260H	ENSP00000341507:R260H	R	-	2	0	ZNF780A	45273410	0.000000	0.05858	0.013000	0.15412	0.322000	0.28314	-1.376000	0.02561	0.934000	0.37316	0.305000	0.20034	CGT		PASS	0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		47	123	47	123	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42485656	42485656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:42485656G>A	ENST00000302102.5	-	11	1585	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	ATP1A3_ENST00000545399.1_Nonsense_Mutation_p.Q492*|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.Q490*|ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.Q449*	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	479					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.Q479*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CAGAGTACCTGGTATTTGTTG	0.512																																						uc002osg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1435-1437)CAG>TAG		Na+/K+ -ATPase alpha 3 subunit							98.0	89.0	92.0					19																	42485656		2203	4300	6503	SO:0001587	stop_gained	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42485656G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1435C>T	19.37:g.42485656G>A	ENSP00000302397:p.Gln479*					ATP1A3_uc010xwf.1_Nonsense_Mutation_p.Q490*|ATP1A3_uc010xwg.1_Nonsense_Mutation_p.Q449*|ATP1A3_uc010xwh.1_Nonsense_Mutation_p.Q492*|ATP1A3_uc002osh.2_Nonsense_Mutation_p.Q479*	p.Q479*	NM_152296	NP_689509	P13637	AT1A3_HUMAN			11	1589	-			479			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Nonsense_Mutation	SNP	ENST00000302102.5	37	c.1435C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	38	6.648685	0.97734	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	.	.	.	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4531	0.67399	0.0:0.0:1.0:0.0	.	.	.	.	X	479;479;492;449;223;490	.	ENSP00000302397:Q479X	Q	-	1	0	ATP1A3	47177496	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.567000	0.98161	2.537000	0.85549	0.561000	0.74099	CAG		PASS	0.512	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		15	40	15	40	---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44777881	44777881	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:44777881T>A	ENST00000391958.2	+	5	1195	c.1068T>A	c.(1066-1068)tgT>tgA	p.C356*	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Nonsense_Mutation_p.C338*|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	356					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.C356*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAACTCCTGTCTTCCCTCTC	0.502																																						uc002oyz.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(1066-1068)TGT>TGA		zinc finger protein 233							109.0	105.0	106.0					19																	44777881		2203	4300	6503	SO:0001587	stop_gained	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777881T>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1068T>A	19.37:g.44777881T>A	ENSP00000375820:p.Cys356*					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Nonsense_Mutation_p.C171*	p.C356*	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1195	+		Prostate(69;0.0435)|all_neural(266;0.226)	356			C2H2-type 3; degenerate.		B2RN78|B2RN79|Q86WL8	Nonsense_Mutation	SNP	ENST00000391958.2	37	c.1068T>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344940	0.41498	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	.	.	.	4.29	-3.97	0.04094	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	1.3373	9.939	0.41570	0.0:0.5963:0.1224:0.2813	.	.	.	.	X	338;356;277	.	ENSP00000280305:C277X	C	+	3	2	ZNF233	49469721	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-4.245000	0.00267	-0.629000	0.05575	0.496000	0.49642	TGT		PASS	0.502	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		7	46	7	46	---	---	---	---
APOC1	341	broad.mit.edu	37	19	45422442	45422442	+	Silent	SNP	A	A	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:45422442A>T	ENST00000588750.1	+	5	532	c.207A>T	c.(205-207)tcA>tcT	p.S69S	APOC1_ENST00000588802.1_Silent_p.S69S|APOC1_ENST00000589781.1_Missense_Mutation_p.Q24L|APOC1_ENST00000592885.1_Nonsense_Mutation_p.R118*|APOC1_ENST00000586638.1_Nonsense_Mutation_p.R81*|APOC1_ENST00000252491.4_Silent_p.S69S			P02654	APOC1_HUMAN	apolipoprotein C-I	69					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)	p.S69S(1)		cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		AGTGGTTTTCAGAGACATTTC	0.532																																						uc002pac.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)TCA>TCT		apolipoprotein C-I precursor							164.0	157.0	159.0					19																	45422442		2203	4300	6503	SO:0001819	synonymous_variant	341				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity	g.chr19:45422442A>T	X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.207A>T	19.37:g.45422442A>T						APOC1_uc002pad.1_Silent_p.S69S|APOC1_uc002pae.1_Silent_p.S69S|APOC1_uc002paf.1_RNA	p.S69S	NM_001645	NP_001636	P02654	APOC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	5	459	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	69					B2R526|Q6IB97	Silent	SNP	ENST00000588750.1	37	c.207A>T	CCDS12648.1																																																																																				PASS	0.532	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1			70	121	70	121	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45567390	45567390	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:45567390C>T	ENST00000221455.3	+	12	1124	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	CLASRP_ENST00000391953.4_Silent_p.A280A|CLASRP_ENST00000544944.2_Silent_p.A342A	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	342					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.A342A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CAGCCGCAGCCGCTGCTGCCG	0.721																																						uc002pak.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1024-1026)GCC>GCT		splicing factor, arginine/serine-rich 16							10.0	13.0	12.0					19																	45567390		1922	3872	5794	SO:0001819	synonymous_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567390C>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1026C>T	19.37:g.45567390C>T						SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.A280A|SFRS16_uc002pam.2_Silent_p.A342A|SFRS16_uc002pan.1_RNA	p.A342A	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	12	1124	+		Ovarian(192;0.0728)|all_neural(266;0.112)	342					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	37	c.1026C>T	CCDS12652.2																																																																																				PASS	0.721	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		3	15	3	15	---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49422505	49422505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:49422505C>T	ENST00000405315.4	+	10	1298	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	NUCB1_ENST00000263273.5_Nonsense_Mutation_p.Q322*|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Nonsense_Mutation_p.Q322*|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	322	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.Q322*(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CGCATCCACTCAGAGGAAGGA	0.607																																						uc002plb.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(964-966)CAG>TAG		nucleobindin 1 precursor							47.0	52.0	50.0					19																	49422505		2203	4300	6503	SO:0001587	stop_gained	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422505C>T	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.964C>T	19.37:g.49422505C>T	ENSP00000385923:p.Gln322*					NUCB1_uc002pla.2_Nonsense_Mutation_p.Q322*|NUCB1_uc002plc.2_Nonsense_Mutation_p.Q322*|NUCB1_uc002pld.2_5'UTR	p.Q322*	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	10	1036	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	322			EF-hand 2.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Nonsense_Mutation	SNP	ENST00000405315.4	37	c.964C>T	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801888	0.50315	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	.	.	.	4.32	4.32	0.51571	.	0.054306	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	11.041	0.47831	0.0:0.8102:0.1898:0.0	.	.	.	.	X	322	.	ENSP00000263273:Q322X	Q	+	1	0	NUCB1	54114317	0.997000	0.39634	0.916000	0.36221	0.079000	0.17450	2.834000	0.48167	2.354000	0.79902	0.591000	0.81541	CAG		PASS	0.607	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		7	37	7	37	---	---	---	---
ALDH16A1	126133	broad.mit.edu	37	19	49962966	49962966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:49962966G>A	ENST00000293350.4	+	4	523	c.360G>A	c.(358-360)tgG>tgA	p.W120*	ALDH16A1_ENST00000433981.2_5'UTR|ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.W120*|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000598015.1_3'UTR	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	120						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.W120*(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGCTGCTGTGGACCCTGGAAT	0.622																																						uc002pnt.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(358-360)TGG>TGA		aldehyde dehydrogenase 16 family, member A1							47.0	50.0	49.0					19																	49962966		2203	4300	6503	SO:0001587	stop_gained	126133						oxidoreductase activity|protein binding	g.chr19:49962966G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.360G>A	19.37:g.49962966G>A	ENSP00000293350:p.Trp120*					ALDH16A1_uc010yar.1_Nonsense_Mutation_p.W120*|ALDH16A1_uc010yas.1_5'UTR|ALDH16A1_uc010yat.1_Intron	p.W120*	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	4	476	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	120					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Nonsense_Mutation	SNP	ENST00000293350.4	37	c.360G>A	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	37	6.326069	0.97476	.	.	ENSG00000161618	ENST00000293350;ENST00000455361	.	.	.	5.32	5.32	0.75619	.	0.228445	0.47455	D	0.000231	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-15.1459	14.9061	0.70721	0.0:0.0:1.0:0.0	.	.	.	.	X	120	.	ENSP00000293350:W120X	W	+	3	0	ALDH16A1	54654778	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.227000	0.51262	2.676000	0.91093	0.460000	0.39030	TGG		PASS	0.622	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		7	40	7	40	---	---	---	---
MED25	81857	broad.mit.edu	37	19	50331706	50331706	+	Splice_Site	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:50331706G>C	ENST00000312865.6	+	4	359	c.306G>C	c.(304-306)aaG>aaC	p.K102N	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	102	Interaction with the Mediator complex.				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.K102N(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)		GCCCCTGCAGGTTCATGGGCG	0.607																																					GBM(51;894 1657 37868)	uc002ppw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(304-306)AAG>AAC		mediator complex subunit 25							84.0	90.0	88.0					19																	50331706		2203	4300	6503	SO:0001630	splice_region_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50331706G>C	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.306-1G>C	19.37:g.50331706G>C						MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'Flank	p.K102N	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	4	359	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	102			Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.306G>C	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637001	0.29157	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.15603	2.41	4.89	4.89	0.63831	.	0.329600	0.32372	N	0.006197	T	0.13243	0.0321	L	0.29908	0.895	0.80722	D	1	B	0.26708	0.157	B	0.31191	0.125	T	0.10451	-1.0629	9	.	.	.	.	11.4311	0.50041	0.0868:0.0:0.9131:0.0	.	102	Q71SY5	MED25_HUMAN	N	102	ENSP00000326767:K102N	.	K	+	3	2	MED25	55023518	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	6.350000	0.73017	2.709000	0.92574	0.655000	0.94253	AAG		PASS	0.607	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973	Missense_Mutation	18	141	18	141	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51140631	51140631	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:51140631G>T	ENST00000338916.4	-	1	671	c.38C>A	c.(37-39)gCa>gAa	p.A13E	SYT3_ENST00000593901.1_Missense_Mutation_p.A13E|SYT3_ENST00000544769.1_Missense_Mutation_p.A13E|SYT3_ENST00000600079.1_Missense_Mutation_p.A13E	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	13					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.A13E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGATGAGTGCCCGCCGGCA	0.617																																						uc002pst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(37-39)GCA>GAA		synaptotagmin III							48.0	45.0	46.0					19																	51140631		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51140631G>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.38C>A	19.37:g.51140631G>T	ENSP00000340914:p.Ala13Glu					SYT3_uc002psv.2_Missense_Mutation_p.A13E|SYT3_uc010ycd.1_Missense_Mutation_p.A13E	p.A13E	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	1	672	-		all_neural(266;0.131)	13			Vesicular (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.38C>A	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433467	0.83776	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.75154	-0.91;-0.91	3.93	3.93	0.45458	.	0.000000	0.52532	U	0.000076	T	0.70710	0.3255	L	0.60455	1.87	0.53688	D	0.999979	P	0.36065	0.535	B	0.34301	0.179	T	0.77135	-0.2699	10	0.87932	D	0	.	15.5917	0.76534	0.0:0.0:1.0:0.0	.	13	Q9BQG1	SYT3_HUMAN	E	13	ENSP00000340914:A13E;ENSP00000438883:A13E	ENSP00000340914:A13E	A	-	2	0	SYT3	55832443	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	6.155000	0.71833	2.128000	0.65567	0.462000	0.41574	GCA		PASS	0.617	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		15	45	15	45	---	---	---	---
VN1R4	317703	broad.mit.edu	37	19	53770079	53770079	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:53770079G>T	ENST00000311170.4	-	1	893	c.840C>A	c.(838-840)ctC>ctA	p.L280L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	280					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L280L(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CAAAGGGGCTGAGAGTTGGGA	0.418										HNSCC(26;0.072)																												uc010ydu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(838-840)CTC>CTA		vomeronasal 1 receptor 4							82.0	75.0	78.0					19																	53770079		2203	4300	6503	SO:0001819	synonymous_variant	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770079G>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.840C>A	19.37:g.53770079G>T		HNSCC(26;0.072)					p.L280L	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	840	-			280			Helical; Name=7; (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	c.840C>A	CCDS33099.1																																																																																				PASS	0.418	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		8	44	8	44	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55144088	55144088	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:55144088C>A	ENST00000396331.1	+	7	1192	c.835C>A	c.(835-837)Cag>Aag	p.Q279K	LILRB1_ENST00000396321.2_Missense_Mutation_p.Q279K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q279K|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q279K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q279K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q279K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q279K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q315K|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q279K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q279K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q279K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	279	Ig-like C2-type 3.				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.Q279K(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)		TGGGCTCTCCCAGGCCAACTT	0.622										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(835-837)CAG>AAG		leukocyte immunoglobulin-like receptor,							61.0	65.0	64.0					19																	55144088		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144088C>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.835C>A	19.37:g.55144088C>A	ENSP00000379622:p.Gln279Lys	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q279K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q279K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q279K|LILRB1_uc010erq.2_Missense_Mutation_p.Q279K|LILRB1_uc010err.2_RNA	p.Q279K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1175	+			279			Ig-like C2-type 3.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.835C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809756	0.31961	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68	2.02	-0.573	0.11742	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.706310	0.03462	N	0.212323	T	0.33235	0.0856	M	0.76574	2.34	0.09310	N	1	P;P;P;D;D	0.71674	0.844;0.931;0.941;0.989;0.998	P;P;P;P;D	0.91635	0.557;0.832;0.823;0.888;0.999	T	0.11767	-1.0574	10	0.42905	T	0.14	.	3.0806	0.06261	0.0:0.5198:0.288:0.1923	.	279;279;279;279;279	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	K	279;279;279;279;279;279;279;279;315;279;279	ENSP00000379614:Q279K;ENSP00000391514:Q279K;ENSP00000409968:Q279K;ENSP00000379622:Q279K;ENSP00000379618:Q279K;ENSP00000315997:Q279K;ENSP00000405243:Q279K;ENSP00000379623:Q279K;ENSP00000395004:Q315K;ENSP00000379610:Q279K;ENSP00000379608:Q279K	ENSP00000315997:Q279K	Q	+	1	0	LILRB1	59835900	0.001000	0.12720	0.002000	0.10522	0.161000	0.22273	-0.223000	0.09177	-0.216000	0.10048	0.184000	0.17185	CAG		PASS	0.622	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			19	15	19	15	---	---	---	---
SBK2	646643	broad.mit.edu	37	19	56042609	56042609	+	Silent	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:56042609G>A	ENST00000413299.1	-	3	394	c.357C>T	c.(355-357)atC>atT	p.I119I	SBK2_ENST00000344158.3_Silent_p.I119I	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I119I(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGGCCGTCACGATGGCTGAGT	0.652																																						uc010ygc.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(355-357)ATC>ATT		SH3-binding domain kinase family, member 2							45.0	52.0	49.0					19																	56042609		2168	4256	6424	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042609G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.357C>T	19.37:g.56042609G>A							p.I119I	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			2	357	-			119			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.357C>T	CCDS42631.1																																																																																				PASS	0.652	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		5	34	5	34	---	---	---	---
ZNF773	374928	broad.mit.edu	37	19	58017855	58017855	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:58017855G>A	ENST00000282292.4	+	4	532	c.392G>A	c.(391-393)aGg>aAg	p.R131K	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.R130K|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	131					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.R131K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAAGAGGGCAGGGTCCCAGTT	0.507																																						uc002qox.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)AGG>AAG		zinc finger protein 773							78.0	81.0	80.0					19																	58017855		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017855G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.392G>A	19.37:g.58017855G>A	ENSP00000282292:p.Arg131Lys					ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.R130K|ZNF773_uc002qoz.2_Intron	p.R131K	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	532	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	131					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.392G>A	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	5.326	0.245397	0.10077	.	.	ENSG00000152439	ENST00000282292	T	0.05319	3.46	0.863	-1.53	0.08611	.	.	.	.	.	T	0.03390	0.0098	N	0.16066	0.365	0.09310	N	1	B;B	0.26195	0.023;0.144	B;B	0.24394	0.029;0.053	T	0.44574	-0.9319	9	0.31617	T	0.26	.	5.7225	0.17995	0.35:0.0:0.65:0.0	.	130;131	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	K	131	ENSP00000282292:R131K	ENSP00000282292:R131K	R	+	2	0	ZNF773	62709667	0.678000	0.27586	0.000000	0.03702	0.293000	0.27360	0.882000	0.28186	-0.642000	0.05480	0.313000	0.20887	AGG		PASS	0.507	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		17	40	17	40	---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58453295	58453295	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:58453295G>T	ENST00000282308.3	-	3	1077	c.881C>A	c.(880-882)cCt>cAt	p.P294H	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	294					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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.P294H(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		ACATTGATGAGGTCTTACTCC	0.398																																					NSCLC(55;1313 1552 8040 11996)	uc002qqu.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(880-882)CCT>CAT		zinc finger protein 256							87.0	84.0	85.0					19																	58453295		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453295G>T	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.881C>A	19.37:g.58453295G>T	ENSP00000282308:p.Pro294His					ZNF256_uc010euj.2_Missense_Mutation_p.P141H	p.P294H	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1116	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	294					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.881C>A	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.378417	0.82682	.	.	ENSG00000152454	ENST00000282308	T	0.29397	1.57	3.03	3.03	0.35002	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57373	0.2049	M	0.87617	2.895	0.28306	N	0.92292	D	0.89917	1.0	D	0.65233	0.933	T	0.54721	-0.8251	9	0.56958	D	0.05	.	13.2278	0.59924	0.0:0.0:1.0:0.0	.	294	Q9Y2P7	ZN256_HUMAN	H	294	ENSP00000282308:P294H	ENSP00000282308:P294H	P	-	2	0	ZNF256	63145107	0.005000	0.15991	0.015000	0.15790	0.985000	0.73830	0.679000	0.25291	1.690000	0.51089	0.460000	0.39030	CCT		PASS	0.398	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			38	85	38	85	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58549348	58549348	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:58549348G>T	ENST00000282326.1	+	3	391	c.144G>T	c.(142-144)gtG>gtT	p.V48V	ZSCAN1_ENST00000601162.1_Silent_p.V48V|ZSCAN1_ENST00000391700.1_Silent_p.V48V	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	48	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.V48V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTACCACGTGGCGAGCGGGC	0.706																																						uc002qrc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(142-144)GTG>GTT		zinc finger and SCAN domain containing 1							14.0	16.0	15.0					19																	58549348		2187	4269	6456	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549348G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.144G>T	19.37:g.58549348G>T						ZSCAN1_uc002qra.1_Silent_p.V48V|ZSCAN1_uc002qrb.1_Silent_p.V48V	p.V48V	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	391	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	48			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.144G>T	CCDS12969.1																																																																																				PASS	0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		4	17	4	17	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961244	1961244	+	Missense_Mutation	SNP	C	C	G	rs376124198		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:1961244C>G	ENST00000217305.2	-	4	715	c.490G>C	c.(490-492)Gct>Cct	p.A164P	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.A164P|PDYN_ENST00000540134.1_Missense_Mutation_p.A164P	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	164					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A164P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCTCAGCGAGATAGAGT	0.597																																						uc010gaj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(490-492)GCT>CCT		beta-neoendorphin-dynorphin preproprotein							107.0	104.0	105.0					20																	1961244		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961244C>G		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.490G>C	20.37:g.1961244C>G	ENSP00000217305:p.Ala164Pro					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.A164P|PDYN_uc010zpt.1_Missense_Mutation_p.A9P	p.A164P	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	732	-			164					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.490G>C	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998282	0.19043	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80738	-1.41;-1.41;-1.41	4.71	-8.27	0.01017	.	2.758650	0.00899	N	0.002322	T	0.58538	0.2129	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51545	-0.8692	10	0.21014	T	0.42	0.0995	8.2662	0.31815	0.0:0.2269:0.3021:0.4711	.	164	P01213	PDYN_HUMAN	P	164	ENSP00000440185:A164P;ENSP00000442259:A164P;ENSP00000217305:A164P	ENSP00000217305:A164P	A	-	1	0	PDYN	1909244	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.574000	0.05868	-1.675000	0.01459	-1.579000	0.00862	GCT		PASS	0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			19	58	19	58	---	---	---	---
ADRA1D	146	broad.mit.edu	37	20	4202246	4202246	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:4202246T>A	ENST00000379453.4	-	2	1759	c.1643A>T	c.(1642-1644)cAc>cTc	p.H548L		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	548				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.H548L(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GGCCACCTCGTGTGGGACGCC	0.682																																						uc002wkr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1642-1644)CAC>CTC		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						25.0	28.0	27.0					20																	4202246		2203	4297	6500	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202246T>A	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1643A>T	20.37:g.4202246T>A	ENSP00000368766:p.His548Leu						p.H548L	NM_000678	NP_000669	P25100	ADA1D_HUMAN			2	1698	-			548	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).		Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1643A>T	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883253	0.33255	.	.	ENSG00000171873	ENST00000379453	T	0.57907	0.37	3.48	0.94	0.19513	.	257.506000	0.00166	U	0.000000	T	0.45438	0.1342	L	0.36672	1.1	0.09310	N	0.999998	B	0.16166	0.016	B	0.12156	0.007	T	0.34279	-0.9835	10	0.62326	D	0.03	.	6.8944	0.24247	0.0:0.2186:0.0:0.7814	.	548	P25100	ADA1D_HUMAN	L	548	ENSP00000368766:H548L	ENSP00000368766:H548L	H	-	2	0	ADRA1D	4150246	0.984000	0.35163	0.003000	0.11579	0.485000	0.33311	1.821000	0.39041	0.030000	0.15379	0.254000	0.18369	CAC		PASS	0.682	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		7	26	7	26	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903358	5903358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:5903358G>T	ENST00000378961.4	+	4	772	c.568G>T	c.(568-570)Gag>Tag	p.E190*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	190						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.E190*(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACACCTTGAAGAGCCAGGAGA	0.483																																						uc002wmg.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(568-570)GAG>TAG		chromogranin B precursor							95.0	97.0	96.0					20																	5903358		2203	4300	6503	SO:0001587	stop_gained	1114					extracellular region	hormone activity	g.chr20:5903358G>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.568G>T	20.37:g.5903358G>T	ENSP00000368244:p.Glu190*					CHGB_uc010zqz.1_5'UTR	p.E190*	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	874	+			190					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	ENST00000378961.4	37	c.568G>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142825	0.77888	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	.	.	.	5.57	3.64	0.41730	.	1.290180	0.04867	N	0.445195	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-6.1174	8.7277	0.34480	0.2344:0.0:0.7656:0.0	.	.	.	.	X	190;170	.	ENSP00000368244:E190X	E	+	1	0	CHGB	5851358	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	0.881000	0.28173	0.721000	0.32231	-0.244000	0.11960	GAG		PASS	0.483	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		7	29	7	29	---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	12989918	12989918	+	Start_Codon_SNP	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:12989918G>T	ENST00000399002.2	+	1	277	c.3G>T	c.(1-3)atG>atT	p.M1I	SPTLC3_ENST00000378194.4_Start_Codon_SNP_p.M1I|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	1					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.M1I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCACACCCATGGCTAACCCTG	0.498																																						uc002wod.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						95.0	92.0	93.0					20																	12989918		2203	4300	6503	SO:0001582	initiator_codon_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:12989918G>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.3G>T	20.37:g.12989918G>T	ENSP00000381968:p.Met1Ile					SPTLC3_uc002wob.1_RNA|SPTLC3_uc002woc.2_Missense_Mutation_p.M1I	p.M1I	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			1	292	+			1					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.3G>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165355	0.57476	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194	D;D	0.95588	-3.75;-2.65	5.59	5.59	0.84812	.	0.108387	0.64402	D	0.000020	D	0.97567	0.9203	.	.	.	0.80722	D	1	P;D	0.71674	0.924;0.998	P;D	0.80764	0.878;0.994	D	0.97855	1.0277	9	0.87932	D	0	-16.4986	15.4499	0.75265	0.0:0.0:1.0:0.0	.	1;1	Q9NUV7;Q9NUV7-2	SPTC3_HUMAN;.	I	1	ENSP00000381968:M1I;ENSP00000367436:M1I	ENSP00000367436:M1I	M	+	3	0	SPTLC3	12937918	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	4.934000	0.63491	2.797000	0.96272	0.563000	0.77884	ATG		PASS	0.498	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	Missense_Mutation	11	37	11	37	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17417378	17417378	+	Silent	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:17417378C>T	ENST00000262545.2	+	8	1050	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PCSK2_ENST00000377899.1_Silent_p.F226F|PCSK2_ENST00000536609.1_Silent_p.F210F	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	245	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.F245F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCAGCCATTCATGACAGACA	0.577																																						uc002wpm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(733-735)TTC>TTT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						86.0	71.0	76.0					20																	17417378		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17417378C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.735C>T	20.37:g.17417378C>T						PCSK2_uc002wpl.2_Silent_p.F226F|PCSK2_uc010zrm.1_Silent_p.F210F	p.F245F	NM_002594	NP_002585	P16519	NEC2_HUMAN			8	1055	+			245			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.735C>T	CCDS13125.1																																																																																				PASS	0.577	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		11	27	11	27	---	---	---	---
SLC24A3	57419	broad.mit.edu	37	20	19677556	19677556	+	Splice_Site	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:19677556G>T	ENST00000328041.6	+	14	1803		c.e14+1		RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3						ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.?(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCCAGACAAGGTGGGACTTCC	0.622																																						uc002wrl.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e14+1		solute carrier family 24							59.0	51.0	53.0					20																	19677556		2203	4300	6503	SO:0001630	splice_region_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19677556G>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1606+1G>T	20.37:g.19677556G>T							p.G536_splice	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			14	1803	+								B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Splice_Site	SNP	ENST00000328041.6	37	c.1606_splice	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539349	0.65085	.	.	ENSG00000185052	ENST00000328041	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6103	0.91283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC24A3	19625556	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	9.837000	0.99465	2.695000	0.91970	0.561000	0.74099	.		PASS	0.622	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	Intron	6	26	6	26	---	---	---	---
PYGB	5834	broad.mit.edu	37	20	25255237	25255237	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:25255237G>T	ENST00000216962.4	+	5	648	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	180					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.A180S(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						GGTAGAGGAGGCCGATGACTG	0.652																																						uc002wup.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(538-540)GCC>TCC		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						59.0	58.0	58.0					20																	25255237		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25255237G>T		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.538G>T	20.37:g.25255237G>T	ENSP00000216962:p.Ala180Ser						p.A180S	NM_002862	NP_002853	P11216	PYGB_HUMAN			5	647	+			180					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.538G>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925093	0.92319	.	.	ENSG00000100994	ENST00000216962	D	0.93189	-3.18	4.07	4.07	0.47477	.	0.056518	0.64402	D	0.000001	D	0.94486	0.8225	M	0.74881	2.28	0.80722	D	1	B	0.24823	0.112	B	0.39660	0.306	D	0.94533	0.7738	10	0.87932	D	0	-15.0268	16.4345	0.83871	0.0:0.0:1.0:0.0	.	180	P11216	PYGB_HUMAN	S	180	ENSP00000216962:A180S	ENSP00000216962:A180S	A	+	1	0	PYGB	25203237	1.000000	0.71417	0.932000	0.37286	0.771000	0.43674	9.476000	0.97823	2.263000	0.75096	0.563000	0.77884	GCC		PASS	0.652	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		8	31	8	31	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31673958	31673958	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:31673958A>C	ENST00000375483.3	+	5	914	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	305						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.K266T(1)									ATCAAAGTCAAGCTGCTGCGA	0.582																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)AAG>ACG		antimicrobial peptide RY2G5 precursor							69.0	58.0	62.0					20																	31673958		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31673958A>C	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.914A>C	20.37:g.31673958A>C	ENSP00000364632:p.Lys305Thr						p.K305T	NM_182519	NP_872325	P59827	LPLC4_HUMAN			5	929	+			305					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.914A>C	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800100	0.31869	.	.	ENSG00000186191	ENST00000375483	T	0.05649	3.41	3.84	0.313	0.15842	.	0.291577	0.28031	N	0.016867	T	0.02970	0.0088	N	0.08118	0	0.33729	D	0.617941	B	0.16396	0.017	B	0.18871	0.023	T	0.29212	-1.0019	10	0.52906	T	0.07	-5.1001	5.8682	0.18789	0.6368:0.0:0.3632:0.0	.	305	P59827	BPIB4_HUMAN	T	305	ENSP00000364632:K305T	ENSP00000364632:K305T	K	+	2	0	BPIFB4	31137619	0.994000	0.37717	0.997000	0.53966	0.934000	0.57294	0.193000	0.17116	-0.141000	0.11374	-0.415000	0.06103	AAG		PASS	0.582	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		23	60	23	60	---	---	---	---
GDF5OS	554250	broad.mit.edu	37	20	34022581	34022581	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:34022581T>A	ENST00000374375.1	+	2	1067	c.625T>A	c.(625-627)Tct>Act	p.S209T	GDF5_ENST00000374369.3_Splice_Site_p.D211V|GDF5_ENST00000374372.1_Splice_Site_p.D211V			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	209						mitochondrion (GO:0005739)		p.S209T(2)|p.D211V(1)		cervix(1)|endometrium(4)|lung(4)	9						ACCTCGGTCATCTAGAGAGAA	0.607																																						uc002xck.1																			3	Substitution - Missense(3)		lung(3)		0						c.(631-633)GAT>GTT		growth differentiation factor 5 preproprotein							95.0	101.0	99.0					20																	34022581		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022581T>A	BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.625T>A	20.37:g.34022581T>A	ENSP00000363495:p.Ser209Thr					GDF5_uc010gfc.1_Missense_Mutation_p.D211V|uc002xcj.2_Missense_Mutation_p.I331N|GDF5_uc010zvc.1_Missense_Mutation_p.D211V	p.D211V	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	951	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		211					A6PVI8	Missense_Mutation	SNP	ENST00000374375.1	37	c.632A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.23|18.23	3.577599|3.577599	0.65878|0.65878	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.62788|.	-0.0;-0.0|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Transforming growth factor-beta, N-terminal (1);|.	0.071085|.	0.52532|.	D|.	0.000073|.	T|T	0.76835|0.76835	0.4043|0.4043	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.79784|.	0.978;0.993|.	T|T	0.81035|0.81035	-0.1115|-0.1115	10|6	0.46703|0.87932	T|D	0.11|0	.|.	14.6194|14.6194	0.68574|0.68574	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	211;211|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	V|T	211|209	ENSP00000363489:D211V;ENSP00000363492:D211V|.	ENSP00000363489:D211V|ENSP00000363495:S209T	D|S	-|+	2|1	0|0	GDF5|GDF5OS	33485995|33485995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.948000|5.948000	0.70249|0.70249	2.033000|2.033000	0.60031|0.60031	0.459000|0.459000	0.35465|0.35465	GAT|TCT		PASS	0.607	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000125987.3			39	84	39	84	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40747043	40747043	+	Splice_Site	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:40747043C>T	ENST00000373187.1	-	21	2981	c.2982G>A	c.(2980-2982)agG>agA	p.R994R	PTPRT_ENST00000356100.2_Splice_Site_p.R1003R|PTPRT_ENST00000373193.3_Splice_Site_p.R997R|PTPRT_ENST00000373201.1_Splice_Site_p.R984R|PTPRT_ENST00000373190.1_Splice_Site_p.R993R|PTPRT_ENST00000373184.1_Splice_Site_p.R984R|PTPRT_ENST00000373198.4_Splice_Site_p.R1013R			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	994	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R1016R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAGGCTTACCCTGCCCACTT	0.537																																						uc002xkg.2																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(2980-2982)AGG>AGA		protein tyrosine phosphatase, receptor type, T							81.0	81.0	81.0					20																	40747043		2042	4210	6252	SO:0001630	splice_region_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40747043C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2982+1G>A	20.37:g.40747043C>T						PTPRT_uc010ggj.2_Silent_p.R1013R|PTPRT_uc010ggi.2_Silent_p.R197R	p.R994R	NM_007050	NP_008981	O14522	PTPRT_HUMAN			21	3166	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	994			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2982G>A	CCDS42874.1																																																																																				PASS	0.537	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		Silent	22	60	22	60	---	---	---	---
NEURL2	140825	broad.mit.edu	37	20	44519371	44519371	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:44519371G>A	ENST00000372518.4	-	1	555	c.260C>T	c.(259-261)gCg>gTg	p.A87V	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	87	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)		p.A87V(1)		large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GGGGTCCAGCGCGGTCAGACC	0.667																																						uc002xqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)GCG>GTG		neuralized-like protein 2							24.0	32.0	30.0					20																	44519371		2201	4296	6497	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519371G>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.260C>T	20.37:g.44519371G>A	ENSP00000361596:p.Ala87Val					CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	p.A87V	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			1	531	-		Myeloproliferative disorder(115;0.0122)	87			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.260C>T	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168190	0.94768	.	.	ENSG00000124257	ENST00000372518	T	0.47869	0.83	4.83	4.83	0.62350	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68727	-0.5332	9	.	.	.	-34.2581	18.1275	0.89590	0.0:0.0:1.0:0.0	.	87	Q9BR09	NEUL2_HUMAN	V	87	ENSP00000361596:A87V	.	A	-	2	0	NEURL2	43952778	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	7.104000	0.77024	2.514000	0.84764	0.561000	0.74099	GCG		PASS	0.667	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			15	18	15	18	---	---	---	---
SLC2A10	81031	broad.mit.edu	37	20	45353939	45353939	+	Silent	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:45353939C>A	ENST00000359271.2	+	2	514	c.264C>A	c.(262-264)ggC>ggA	p.G88G		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	88					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.G88G(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGCTGGCAGGCAGCCTGACCC	0.637																																						uc002xsl.2																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	ovary(1)	1						c.(262-264)GGC>GGA		solute carrier family 2 member 10							38.0	37.0	38.0					20																	45353939		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45353939C>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.264C>A	20.37:g.45353939C>A							p.G88G	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	361	+		Myeloproliferative disorder(115;0.0122)	88			Helical; Name=3; (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.264C>A	CCDS13402.1																																																																																				PASS	0.637	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			7	57	7	57	---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52782348	52782348	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:52782348T>C	ENST00000216862.3	-	5	1058	c.665A>G	c.(664-666)aAg>aGg	p.K222R	CYP24A1_ENST00000395955.3_Missense_Mutation_p.K222R|CYP24A1_ENST00000395954.3_Missense_Mutation_p.K80R	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	222					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.K222R(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCCAAATCTCTTCTCATACAA	0.398																																						uc002xwv.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(664-666)AAG>AGG		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						123.0	111.0	115.0					20																	52782348		2203	4300	6503	SO:0001583	missense	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52782348T>C	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.665A>G	20.37:g.52782348T>C	ENSP00000216862:p.Lys222Arg					CYP24A1_uc002xwu.1_Missense_Mutation_p.K80R|CYP24A1_uc002xww.2_Missense_Mutation_p.K222R	p.K222R	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		5	1063	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		222					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.665A>G	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422992	0.62733	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.69175	-0.38;-0.38;-0.38	5.13	4.03	0.46877	.	0.159749	0.56097	N	0.000037	T	0.66237	0.2769	M	0.77313	2.365	0.45718	D	0.998626	P;B;B	0.36183	0.542;0.12;0.071	B;B;B	0.37422	0.249;0.093;0.035	T	0.65158	-0.6236	10	0.42905	T	0.14	-14.2073	10.1469	0.42769	0.0:0.0789:0.0:0.9211	.	222;222;80	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	R	222;222;80	ENSP00000216862:K222R;ENSP00000379285:K222R;ENSP00000379284:K80R	ENSP00000216862:K222R	K	-	2	0	CYP24A1	52215755	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.855000	0.48333	0.916000	0.36871	0.455000	0.32223	AAG		PASS	0.398	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			31	62	31	62	---	---	---	---
BMP7	655	broad.mit.edu	37	20	55803413	55803413	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:55803413G>T	ENST00000395863.3	-	2	988	c.483C>A	c.(481-483)tcC>tcA	p.S161S	BMP7_ENST00000450594.2_Silent_p.S161S|BMP7_ENST00000395864.3_Silent_p.S161S	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	161					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.S161S(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTGGGATCTTGGAAAGATCAA	0.522																																						uc010gip.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(481-483)TCC>TCA		bone morphogenetic protein 7 precursor							159.0	157.0	158.0					20																	55803413		2203	4300	6503	SO:0001819	synonymous_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55803413G>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.483C>A	20.37:g.55803413G>T						BMP7_uc010giq.1_Silent_p.S161S|BMP7_uc002xyc.2_Silent_p.S161S	p.S161S	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		2	1012	-	all_lung(29;0.0133)|Melanoma(10;0.242)		161					Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	c.483C>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482641	0.26598	.	.	ENSG00000101144	ENST00000433911	.	.	.	5.33	3.35	0.38373	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57207	-0.7851	4	.	.	.	.	10.8074	0.46527	0.0708:0.132:0.7972:0.0	.	.	.	.	K	47	.	.	Q	-	1	0	BMP7	55236820	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	1.882000	0.39648	0.718000	0.32166	0.655000	0.94253	CAA		PASS	0.522	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			68	112	68	112	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62065176	62065176	+	Silent	SNP	G	G	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:62065176G>C	ENST00000359125.2	-	8	1278	c.1104C>G	c.(1102-1104)acC>acG	p.T368T	KCNQ2_ENST00000370224.1_Silent_p.T368T|KCNQ2_ENST00000359689.1_Silent_p.T368T|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Silent_p.T368T|KCNQ2_ENST00000344425.5_Silent_p.T368T|KCNQ2_ENST00000357249.2_Silent_p.T368T|KCNQ2_ENST00000354587.3_Silent_p.T368T|KCNQ2_ENST00000344462.4_Silent_p.T368T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	368					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.T368T(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACATGGGCACGGTGACCGTTC	0.532																																						uc002yey.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1102-1104)ACC>ACG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						127.0	109.0	115.0					20																	62065176		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62065176G>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1104C>G	20.37:g.62065176G>C						KCNQ2_uc002yez.1_Silent_p.T368T|KCNQ2_uc002yfa.1_Silent_p.T368T|KCNQ2_uc002yfb.1_Silent_p.T368T|KCNQ2_uc011aax.1_Silent_p.T368T|KCNQ2_uc002yfc.1_Silent_p.T368T	p.T368T	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		8	1281	-	all_cancers(38;1.24e-11)		368			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.1104C>G	CCDS13520.1																																																																																				PASS	0.532	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		38	57	38	57	---	---	---	---
TNFRSF6B	8771	broad.mit.edu	37	20	62326724	62326724	+	5'Flank	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr20:62326724C>T	ENST00000369996.1	+	0	0				RTEL1_ENST00000318100.4_Silent_p.I1181I|RTEL1_ENST00000370003.1_Silent_p.I426I|RTEL1_ENST00000508582.2_Silent_p.I1205I|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.I1181I|RTEL1_ENST00000370018.3_Silent_p.I1181I|RTEL1_ENST00000360203.5_Silent_p.I1181I	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)	p.I1181I(1)		central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGAGCAAGATCTCGTCCTTCC	0.652																																						uc002yfu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3541-3543)ATC>ATT		regulator of telomere elongation helicase 1							79.0	94.0	89.0					20																	62326724		2201	4288	6489	SO:0001631	upstream_gene_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62326724C>T	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326724C>T	Exception_encountered					RTEL1_uc002yft.1_Silent_p.I1181I|RTEL1_uc011abd.1_Silent_p.I1205I|RTEL1_uc011abe.1_Silent_p.I958I|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.I426I|TNFRSF6B_uc002yfy.2_5'UTR|TNFRSF6B_uc002yfz.2_5'Flank	p.I1181I	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		34	3886	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		1181						Silent	SNP	ENST00000369996.1	37	c.3543C>T	CCDS13532.1																																																																																				PASS	0.652	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			10	189	10	189	---	---	---	---
KRTAP19-6	337973	broad.mit.edu	37	21	31914084	31914084	+	Silent	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr21:31914084A>G	ENST00000334046.5	-	1	99	c.69T>C	c.(67-69)taT>taC	p.Y23Y		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	23						intermediate filament (GO:0005882)		p.Y23Y(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGCCACAGCCATAGCCCAGAC	0.522																																						uc002yok.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(67-69)TAT>TAC		keratin associated protein 19-6							116.0	121.0	119.0					21																	31914084		2203	4300	6503	SO:0001819	synonymous_variant	337973					intermediate filament		g.chr21:31914084A>G	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.69T>C	21.37:g.31914084A>G							p.Y23Y	NM_181612	NP_853643	Q3LI70	KR196_HUMAN			1	98	-			23					Q3LI71	Silent	SNP	ENST00000334046.5	37	c.69T>C	CCDS13598.1																																																																																				PASS	0.522	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			56	43	56	43	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32502633	32502633	+	Splice_Site	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr21:32502633C>A	ENST00000286827.3	-	26	4414	c.3943G>T	c.(3943-3945)Gta>Tta	p.V1315L	TIAM1_ENST00000541036.1_Splice_Site_p.V1255L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1315	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.V1315L(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						TGAGATCCTACCTGCAGAGGA	0.527																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3943-3945)GTA>TTA		T-cell lymphoma invasion and metastasis 1							103.0	100.0	101.0					21																	32502633		2203	4300	6503	SO:0001630	splice_region_variant	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.chr21:32502633C>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.3943-1G>T	21.37:g.32502633C>A						TIAM1_uc011adk.1_Missense_Mutation_p.V1315L|TIAM1_uc011adl.1_Missense_Mutation_p.V1255L	p.V1315L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			26	4415	-			1315			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3943G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766861	0.49574	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.39229	1.09;1.1	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.126747	0.52532	D	0.000078	T	0.28001	0.0690	N	0.08118	0	0.58432	D	0.999997	B;B;B	0.15719	0.014;0.008;0.008	B;B;B	0.11329	0.006;0.003;0.003	T	0.09292	-1.0681	10	0.20519	T	0.43	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1255;1255;1315	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	1315;1255	ENSP00000286827:V1315L;ENSP00000441570:V1255L	ENSP00000286827:V1315L	V	-	1	0	TIAM1	31424504	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	7.465000	0.80898	2.854000	0.98071	0.655000	0.94253	GTA		PASS	0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	Missense_Mutation	41	29	41	29	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33296969	33296969	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr21:33296969A>G	ENST00000270112.2	+	2	811	c.451A>G	c.(451-453)Aag>Gag	p.K151E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K151E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CCTGATGCACAAGATCTATGA	0.562																																						uc002yph.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|skin(1)	2						c.(451-453)AAG>GAG		hormonally upregulated Neu-associated kinase							78.0	81.0	80.0					21																	33296969		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296969A>G	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.451A>G	21.37:g.33296969A>G	ENSP00000270112:p.Lys151Glu						p.K151E	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	811	+			151			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.451A>G	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367295	0.61513	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.65364	-0.15;-0.15	4.73	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.230297	0.38436	N	0.001692	T	0.64768	0.2628	L	0.38175	1.15	0.44611	D	0.997582	D	0.55172	0.97	P	0.54270	0.747	T	0.69150	-0.5221	10	0.72032	D	0.01	-9.7721	14.4026	0.67060	1.0:0.0:0.0:0.0	.	151	P57058	HUNK_HUMAN	E	151;36	ENSP00000270112:K151E;ENSP00000411860:K36E	ENSP00000270112:K151E	K	+	1	0	HUNK	32218840	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.623000	0.46435	1.979000	0.57680	0.455000	0.32223	AAG		PASS	0.562	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		34	38	34	38	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38878446	38878446	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr21:38878446C>T	ENST00000398960.2	+	10	1666	c.1591C>T	c.(1591-1593)Ccg>Tcg	p.P531S	DYRK1A_ENST00000338785.3_Missense_Mutation_p.P531S|DYRK1A_ENST00000451934.1_Missense_Mutation_p.P531S|DYRK1A_ENST00000339659.4_Missense_Mutation_p.P522S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P303S|DYRK1A_ENST00000398956.2_Intron|DYRK1A_ENST00000321219.8_Intron	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	531					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.P531S(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCGGTCGGATCCGACGCACCA	0.537																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1591-1593)CCG>TCG		dual-specificity tyrosine-(Y)-phosphorylation							71.0	62.0	65.0					21																	38878446		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38878446C>T	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1591C>T	21.37:g.38878446C>T	ENSP00000381932:p.Pro531Ser					DYRK1A_uc002ywi.2_Missense_Mutation_p.P531S|DYRK1A_uc002ywj.2_Missense_Mutation_p.P522S|DYRK1A_uc002ywl.2_Intron|DYRK1A_uc002ywm.2_Intron|DYRK1A_uc011aei.1_Missense_Mutation_p.P292S	p.P531S	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			10	1666	+			531					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1591C>T	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499814	0.96355	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000451934;ENST00000398960;ENST00000455387	T;T;T;T;T	0.57752	0.52;0.39;0.52;0.38;0.97	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	N	0.24115	0.695	0.80722	D	1	P;P;B	0.38745	0.512;0.645;0.151	B;B;B	0.41374	0.194;0.355;0.154	T	0.43940	-0.9360	10	0.44086	T	0.13	.	19.6363	0.95735	0.0:1.0:0.0:0.0	.	531;522;531	Q13627;Q13627-2;Q13627-5	DYR1A_HUMAN;.;.	S	531;522;531;531;303	ENSP00000342690:P531S;ENSP00000340373:P522S;ENSP00000416089:P531S;ENSP00000381932:P531S;ENSP00000407854:P303S	ENSP00000342690:P531S	P	+	1	0	DYRK1A	37800316	1.000000	0.71417	0.396000	0.26296	0.984000	0.73092	7.356000	0.79445	2.714000	0.92807	0.650000	0.86243	CCG		PASS	0.537	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		10	24	10	24	---	---	---	---
ISX	91464	broad.mit.edu	37	22	35463099	35463099	+	Missense_Mutation	SNP	C	C	A	rs138420595		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr22:35463099C>A	ENST00000308700.6	+	1	971	c.19C>A	c.(19-21)Cct>Act	p.P7T	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.P7T	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	7					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P7T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TGAGGTGGGCCCTGCTCTCTG	0.602																																						uc003anj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(19-21)CCT>ACT		intestine-specific homeobox		C	THR/PRO	0,4406		0,0,2203	39.0	40.0	39.0		19	2.6	0.2	22	dbSNP_134	39	2,8598	2.2+/-6.3	0,2,4298	no	missense	ISX	NM_001008494.1	38	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	possibly-damaging	7/246	35463099	2,13004	2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463099C>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.19C>A	22.37:g.35463099C>A	ENSP00000311492:p.Pro7Thr					ISX_uc011amg.1_5'UTR	p.P7T	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			1	970	+			7					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.19C>A	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241825	0.39598	0.0	2.33E-4	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.89485	-2.52;-2.52	3.63	2.61	0.31194	.	0.000000	0.38663	N	0.001607	D	0.83252	0.5214	L	0.29908	0.895	0.09310	N	0.999998	D	0.56287	0.975	P	0.48815	0.591	T	0.74234	-0.3731	10	0.40728	T	0.16	.	7.1343	0.25519	0.0:0.8769:0.0:0.1231	.	7	Q2M1V0	ISX_HUMAN	T	7	ENSP00000311492:P7T;ENSP00000386037:P7T	ENSP00000311492:P7T	P	+	1	0	ISX	33793099	0.000000	0.05858	0.179000	0.23059	0.035000	0.12851	-0.006000	0.12833	1.106000	0.41623	0.655000	0.94253	CCT		PASS	0.602	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		6	9	6	9	---	---	---	---
TRMU	55687	broad.mit.edu	37	22	46751480	46751480	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr22:46751480C>T	ENST00000290846.4	+	9	1353	c.1013C>T	c.(1012-1014)gCa>gTa	p.A338V	TRMU_ENST00000381019.3_Missense_Mutation_p.A338V	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	338					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)	p.A338V(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CACCAGATGGCACTAGGTGAC	0.632											OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)GCA>GTA		tRNA 5-methylaminomethyl-2-thiouridylate							50.0	47.0	48.0					22																	46751480		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46751480C>T	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1013C>T	22.37:g.46751480C>T	ENSP00000290846:p.Ala338Val		OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941	TRMU_uc003bhq.2_Missense_Mutation_p.A120V|TRMU_uc003bhs.2_Missense_Mutation_p.A338V|TRMU_uc003bhr.2_Missense_Mutation_p.A224V|TRMU_uc003bht.2_Missense_Mutation_p.A191V|TRMU_uc003bhu.2_Missense_Mutation_p.A120V|TRMU_uc003bhv.2_Missense_Mutation_p.A191V	p.A338V	NM_018006	NP_060476	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	9	1377	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	338					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.1013C>T	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360183	0.95877	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.72505	-0.66;-0.66	5.2	4.17	0.49024	.	0.107613	0.64402	D	0.000005	T	0.79764	0.4502	L	0.58969	1.84	0.80722	D	1	D;D;D;P	0.67145	0.996;0.981;0.969;0.589	D;P;P;B	0.64042	0.921;0.815;0.811;0.216	T	0.81182	-0.1049	10	0.52906	T	0.07	-21.3568	15.2569	0.73593	0.1414:0.8586:0.0:0.0	.	184;184;338;338	O75648-3;O75648-4;O75648-2;O75648	.;.;.;MTU1_HUMAN	V	338	ENSP00000290846:A338V;ENSP00000370407:A338V	ENSP00000290846:A338V	A	+	2	0	TRMU	45130144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.422000	0.59854	1.316000	0.45131	0.563000	0.77884	GCA		PASS	0.632	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		6	27	6	27	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17746085	17746085	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chrX:17746085G>T	ENST00000380060.3	+	6	4134	c.3796G>T	c.(3796-3798)Ggt>Tgt	p.G1266C	NHS_ENST00000398097.3_Missense_Mutation_p.G1110C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1287					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G1110C(1)|p.G1266C(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGATTTGGATGGTAAAATAAT	0.473																																						uc004cxx.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(3796-3798)GGT>TGT		Nance-Horan syndrome protein isoform 1							70.0	70.0	70.0					X																	17746085		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17746085G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3796G>T	X.37:g.17746085G>T	ENSP00000369400:p.Gly1266Cys					NHS_uc011mix.1_Missense_Mutation_p.G1287C|NHS_uc004cxy.2_Missense_Mutation_p.G1110C|NHS_uc004cxz.2_Missense_Mutation_p.G1089C|NHS_uc004cya.2_Missense_Mutation_p.G989C	p.G1266C	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	4134	+	Hepatocellular(33;0.183)		1266					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3796G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313867	0.40996	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.46063	0.89;0.88	5.79	2.02	0.26589	.	0.701606	0.13704	N	0.368577	T	0.33962	0.0881	L	0.40543	1.245	0.09310	N	1	B;B;B;P	0.43885	0.006;0.006;0.006;0.82	B;B;B;B	0.43331	0.01;0.01;0.01;0.416	T	0.14420	-1.0473	10	0.54805	T	0.06	-0.5111	5.5388	0.17026	0.4221:0.0:0.4495:0.1284	.	1287;1108;1110;1266	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	1266;1110;1108	ENSP00000369400:G1266C;ENSP00000381170:G1110C	ENSP00000369397:G1108C	G	+	1	0	NHS	17656006	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	0.279000	0.18771	-0.021000	0.14009	0.544000	0.68410	GGT		PASS	0.473	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		15	22	15	22	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84502614	84502614	+	Silent	SNP	G	G	T			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chrX:84502614G>T	ENST00000373165.3	+	3	342	c.36G>T	c.(34-36)acG>acT	p.T12T	ZNF711_ENST00000276123.3_Silent_p.T12T|ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000360700.4_Silent_p.T12T	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	12					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.T12T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GATTGCACACGCCAGACTCTA	0.328																																						uc004eeo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(34-36)ACG>ACT		zinc finger protein 711							141.0	129.0	133.0					X																	84502614		2203	4300	6503	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84502614G>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.36G>T	X.37:g.84502614G>T						ZNF711_uc004eep.2_Silent_p.T12T|ZNF711_uc004eeq.2_Silent_p.T12T	p.T12T	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			3	383	+			12					B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.36G>T	CCDS35344.1																																																																																				PASS	0.328	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		22	26	22	26	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977058	107977058	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chrX:107977058C>A	ENST00000372129.2	-	1	2593	c.2517G>T	c.(2515-2517)agG>agT	p.R839S	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	839					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R839S(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGTCTAGGCCCCTCCCCAGGA	0.502																																						uc004eoc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(2515-2517)AGG>AGT		insulin receptor substrate 4							170.0	176.0	174.0					X																	107977058		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977058C>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2517G>T	X.37:g.107977058C>A	ENSP00000361202:p.Arg839Ser						p.R839S	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	2550	-			839						Missense_Mutation	SNP	ENST00000372129.2	37	c.2517G>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	4.382	0.070523	0.08436	.	.	ENSG00000133124	ENST00000372129	T	0.19806	2.12	5.18	2.23	0.28157	.	0.763028	0.12384	N	0.473637	T	0.06735	0.0172	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37572	-0.9700	10	0.02654	T	1	-0.1824	8.5165	0.33248	0.317:0.4574:0.2256:0.0	.	839	O14654	IRS4_HUMAN	S	839	ENSP00000361202:R839S	ENSP00000361202:R839S	R	-	3	2	IRS4	107863714	0.010000	0.17322	0.094000	0.20943	0.988000	0.76386	0.414000	0.21164	0.523000	0.28482	0.600000	0.82982	AGG		PASS	0.502	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		71	69	71	69	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694517	109694517	+	Silent	SNP	C	C	G			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chrX:109694517C>G	ENST00000465301.2	+	3	918	c.672C>G	c.(670-672)ccC>ccG	p.P224P	RGAG1_ENST00000540313.1_Silent_p.P224P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	224								p.P224P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGCCAGCTCCCAGCTCTGAGG	0.478																																						uc004eor.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(670-672)CCC>CCG		retrotransposon gag domain containing 1							109.0	101.0	104.0					X																	109694517		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694517C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.672C>G	X.37:g.109694517C>G						RGAG1_uc011msr.1_Silent_p.P224P	p.P224P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	918	+			224					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.672C>G	CCDS14552.1																																																																																				PASS	0.478	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		19	23	19	23	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694617	109694617	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chrX:109694617C>A	ENST00000465301.2	+	3	1018	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	RGAG1_ENST00000540313.1_Missense_Mutation_p.L258M	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	258								p.L258M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATATCTTCGCTGCTAATGTC	0.483																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(772-774)CTG>ATG		retrotransposon gag domain containing 1							132.0	118.0	122.0					X																	109694617		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694617C>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.772C>A	X.37:g.109694617C>A	ENSP00000419786:p.Leu258Met					RGAG1_uc011msr.1_Missense_Mutation_p.L258M	p.L258M	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1018	+			258					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.772C>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673375	0.29693	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.61980	0.06;0.06	3.91	1.21	0.21127	.	0.000000	0.28996	N	0.013475	T	0.59582	0.2204	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50466	-0.8825	9	.	.	.	-8.3739	7.2583	0.26189	0.0:0.6752:0.0:0.3248	.	258	Q8NET4	RGAG1_HUMAN	M	258	ENSP00000419786:L258M;ENSP00000441452:L258M	.	L	+	1	2	RGAG1	109581273	0.761000	0.28439	0.185000	0.23176	0.756000	0.42949	-0.028000	0.12350	0.118000	0.18165	-0.881000	0.02953	CTG		PASS	0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		22	24	22	24	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78422308	78422324	+	Frame_Shift_Del	DEL	GTGGCTGTGCTTGCTGT	GTGGCTGTGCTTGCTGT	-			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:78422308_78422324delGTGGCTGTGCTTGCTGT	ENST00000370768.2	-	17	1719_1735	c.1638_1654delACAGCAAGCACAGCCAC	c.(1636-1656)caacagcaagcacagccaccafs	p.QQQAQPP546fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.QQQAQPP546fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QQQAQPP567fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	546	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.Q548*(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGCTGGTGGTGGCTGTGCTTGCTGTTGATAATAGT	0.433			"""F, N"""		oligodendroglioma																																	uc001dii.2				Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	central_nervous_system(2)|lung(1)	3						c.(1636-1656)CAACAGCAAGCACAGCCACCAfs		far upstream element-binding protein																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422308_78422324delGTGGCTGTGCTTGCTGT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1638_1654delACAGCAAGCACAGCCAC	1.37:g.78422308_78422324delGTGGCTGTGCTTGCTGT	ENSP00000359804:p.Gln546fs					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Frame_Shift_Del_p.Q567fs	p.Q546fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			17	1727_1743	-			546_552			Pro-rich.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1638_1654delACAGCAAGCACAGCCAC	CCDS683.1																																																																																					0.433	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		62	30	62	30	---	---	---	---
EDARADD	128178	broad.mit.edu	37	1	236645688	236645688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr1:236645688delG	ENST00000334232.4	+	6	554	c.387delG	c.(385-387)ctgfs	p.L129fs	EDARADD_ENST00000359362.5_Frame_Shift_Del_p.L119fs	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	129	Death.				cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)		p.L129L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGATAAAGCTGGATCCGTGTC	0.502																																						uc001hxu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)CTGfs		EDAR-associated death domain isoform A							98.0	94.0	95.0					1																	236645688		2203	4300	6503	SO:0001589	frameshift_variant	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236645688delG	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.387delG	1.37:g.236645688delG	ENSP00000335076:p.Leu129fs					EDARADD_uc001hxv.1_Frame_Shift_Del_p.L119fs	p.L129fs	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	452	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	129			Death.		A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Frame_Shift_Del	DEL	ENST00000334232.4	37	c.387delG	CCDS1610.1																																																																																					0.502	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		40	35	40	35	---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156484938	156484939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr5:156484938_156484939insC	ENST00000339252.3	-	1	548_549	c.16_17insG	c.(16-18)gtcfs	p.V6fs	HAVCR1_ENST00000544197.1_Frame_Shift_Ins_p.V6fs|HAVCR1_ENST00000523175.1_Frame_Shift_Ins_p.V6fs|HAVCR1_ENST00000522693.1_Frame_Shift_Ins_p.V6fs|HAVCR1_ENST00000425854.1_Frame_Shift_Ins_p.V6fs	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTTAAGATGACCACTTGAGGA	0.515																																						uc010jij.1																			0				ovary(1)|skin(1)	2						c.(16-18)GTCfs		hepatitis A virus cellular receptor 1																																				SO:0001589	frameshift_variant	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156484938_156484939insC	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.17dupG	5.37:g.156484940_156484940dupC	ENSP00000344844:p.Val6fs					HAVCR1_uc003lwi.2_Frame_Shift_Ins_p.V6fs|HAVCR1_uc011ddm.1_Frame_Shift_Ins_p.V6fs	p.V6fs	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	201_202	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	6					O43656	Frame_Shift_Ins	INS	ENST00000339252.3	37	c.16_17insG	CCDS43392.1																																																																																					0.515	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			25	12	25	12	---	---	---	---
SEPHS1	22929	broad.mit.edu	37	10	13378352	13378352	+	Splice_Site	DEL	T	T	-			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:13378352delT	ENST00000327347.5	-	4	673		c.e4-2		SEPHS1_ENST00000537130.1_Splice_Site|SEPHS1_ENST00000545675.1_Splice_Site|SEPHS1_ENST00000494329.1_5'Flank|SEPHS1_ENST00000378614.4_Splice_Site	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1						cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TATCCTGCCCTGGGAAGAGAG	0.507																																						uc001imk.2																			0				skin(1)	1						c.e4-1		selenophosphate synthetase 1							63.0	51.0	55.0					10																	13378352		2203	4300	6503	SO:0001630	splice_region_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13378352delT	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.298-2A>-	10.37:g.13378352delT						SEPHS1_uc001imh.2_Frame_Shift_Del_p.Q23fs|SEPHS1_uc010qbs.1_Splice_Site_p.G52_splice|SEPHS1_uc001imi.2_Splice_Site_p.G100_splice|SEPHS1_uc001imj.2_Splice_Site_p.G100_splice|SEPHS1_uc010qbt.1_Splice_Site_p.G33_splice|SEPHS1_uc009xje.2_Splice_Site_p.G100_splice	p.G100_splice	NM_012247	NP_036379	P49903	SPS1_HUMAN			4	657	-								B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Splice_Site	DEL	ENST00000327347.5	37	c.298_splice	CCDS7098.1																																																																																					0.507	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247	Intron	19	12	19	12	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18276475	18276475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr10:18276475delC	ENST00000377369.2	+	7	1437	c.1164delC	c.(1162-1164)gtcfs	p.V388fs	SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.V254fs|SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.V388fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.V388fs	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	388					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGCGCTGGTCCTTTTCCATA	0.547																																						uc001ipo.2																			0				ovary(1)|breast(1)	2						c.(1162-1164)GTCfs		solute carrier family 39 (zinc transporter),							156.0	123.0	135.0					10																	18276475		2203	4300	6503	SO:0001589	frameshift_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276475delC		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1164delC	10.37:g.18276475delC	ENSP00000366586:p.Val388fs					SLC39A12_uc001ipn.2_Frame_Shift_Del_p.V388fs|SLC39A12_uc001ipp.2_Frame_Shift_Del_p.V388fs|SLC39A12_uc010qck.1_Frame_Shift_Del_p.V254fs	p.V388fs	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			7	1437	+			388			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Frame_Shift_Del	DEL	ENST00000377369.2	37	c.1164delC	CCDS44362.1																																																																																					0.547	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		60	33	60	33	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110725	55110726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:55110725_55110726insA	ENST00000314721.2	+	1	99_100	c.49_50insA	c.(49-51)caafs	p.Q17fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGGCCTCACTCAAGATCCTGAT	0.406																																						uc010rie.1																			0				large_intestine(2)|pancreas(1)	3						c.(49-51)CAAfs		olfactory receptor, family 4, subfamily A,																																				SO:0001589	frameshift_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110725_55110726insA	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.51dupA	11.37:g.55110727_55110727dupA	ENSP00000325128:p.Gln17fs						p.Q17fs	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	49_50	+			17			Extracellular (Potential).		Q6IFL3	Frame_Shift_Ins	INS	ENST00000314721.2	37	c.49_50insA	CCDS31499.1																																																																																					0.406	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		23	26	23	26	---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61488164	61488165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:61488164_61488165insC	ENST00000257215.5	+	3	225_226	c.109_110insC	c.(109-111)tccfs	p.S37fs		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	37					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGTGATCCTGTCCGTGGTGCTC	0.639																																						uc001nsa.2																			0				ovary(2)|central_nervous_system(1)	3						c.(109-111)TCCfs		neural stem cell-derived dendrite regulator																																				SO:0001589	frameshift_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61488164_61488165insC	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.111dupC	11.37:g.61488166_61488166dupC	ENSP00000257215:p.Ser37fs						p.S37fs	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	3	220_221	+			37			Helical; (Potential).		A7E233|Q6WQJ0	Frame_Shift_Ins	INS	ENST00000257215.5	37	c.109_110insC	CCDS31578.1																																																																																					0.639	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		22	17	22	17	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113860388	113860388	+	Frame_Shift_Del	DEL	C	C	-			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr11:113860388delC	ENST00000504030.2	+	9	1785	c.1340delC	c.(1339-1341)tccfs	p.S447fs	HTR3A_ENST00000355556.2_Frame_Shift_Del_p.S485fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.S479fs|HTR3A_ENST00000299961.5_Frame_Shift_Del_p.S432fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.S453fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.S191fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	447	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGCGTGGGCTCCGTGCTGGAC	0.602																																						uc010rxb.1																			0					0						c.(1453-1455)TCCfs		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						80.0	73.0	76.0					11																	113860388		2201	4296	6497	SO:0001589	frameshift_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860388delC	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1340delC	11.37:g.113860388delC	ENSP00000424189:p.Ser447fs					HTR3A_uc010rxa.1_Frame_Shift_Del_p.S453fs|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Frame_Shift_Del_p.S432fs	p.S485fs	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1687	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	447			HA-stretch.|Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Frame_Shift_Del	DEL	ENST00000504030.2	37	c.1454delC																																																																																						0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		28	29	28	29	---	---	---	---
TXNRD1	7296	broad.mit.edu	37	12	104709579	104709580	+	Frame_Shift_Ins	INS	-	-	G	rs374273996	byFrequency	TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr12:104709579_104709580insG	ENST00000529546.1	+	4	296_297	c.71_72insG	c.(70-75)gtgggtfs	p.VG24fs	TXNRD1_ENST00000429002.2_Frame_Shift_Ins_p.VG212fs|TXNRD1_ENST00000354940.6_Frame_Shift_Ins_p.VG62fs|TXNRD1_ENST00000526950.1_Frame_Shift_Ins_p.VG131fs|TXNRD1_ENST00000397736.2_Frame_Shift_Ins_p.VG106fs|TXNRD1_ENST00000542918.1_Frame_Shift_Ins_p.VG112fs|TXNRD1_ENST00000540716.1_Frame_Shift_Ins_p.VG24fs|TXNRD1_ENST00000526390.1_Frame_Shift_Ins_p.VG106fs|TXNRD1_ENST00000526691.1_Frame_Shift_Ins_p.VG114fs|TXNRD1_ENST00000503506.2_Frame_Shift_Ins_p.VG62fs|TXNRD1_ENST00000524698.1_Frame_Shift_Ins_p.VG62fs|TXNRD1_ENST00000388854.3_Frame_Shift_Ins_p.VG114fs|TXNRD1_ENST00000378070.4_Frame_Shift_Ins_p.VG161fs|TXNRD1_ENST00000427956.1_Frame_Shift_Ins_p.VG177fs|TXNRD1_ENST00000525566.1_Frame_Shift_Ins_p.VG212fs			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	212					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGTGTGAATGTGGGTTGCATAC	0.406																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1																			0					0						c.(634-636)GTGfs		thioredoxin reductase 1 isoform 3																																				SO:0001589	frameshift_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104709579_104709580insG		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.74dupG	12.37:g.104709582_104709582dupG	ENSP00000434919:p.Val24fs					TXNRD1_uc010swl.1_Frame_Shift_Ins_p.V62fs|TXNRD1_uc010swm.1_Frame_Shift_Ins_p.V114fs|TXNRD1_uc010swn.1_Frame_Shift_Ins_p.V62fs|TXNRD1_uc010swo.1_Frame_Shift_Ins_p.V62fs|TXNRD1_uc010swp.1_Frame_Shift_Ins_p.V24fs|TXNRD1_uc010swq.1_Frame_Shift_Ins_p.V112fs|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Frame_Shift_Ins_p.V128fs	p.V212fs	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			7	657_658	+			212					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Frame_Shift_Ins	INS	ENST00000529546.1	37	c.635_636insG	CCDS58274.1																																																																																					0.406	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		12	16	12	16	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1207064	1207065	+	Frame_Shift_Ins	INS	-	-	C			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:1207064_1207065insC	ENST00000326873.7	+	1	1325_1326	c.152_153insC	c.(151-156)atggggfs	p.M51fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.		Missing (in PJS). {ECO:0000269|PubMed:9837816}.		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTACCTGATGGGGGACCTGC	0.604		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		26	Whole gene deletion(20)|Deletion - Frameshift(2)|Unknown(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(19)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1)	cervix(15)|lung(6)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(151-153)ATGfs		serine/threonine protein kinase 11																																				SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1207064_1207065insC	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		Exception_encountered	19.37:g.1207064_1207065insC	ENSP00000324856:p.Met51fs	TSP Lung(3;<1E-08)					p.M51fs	NM_000455	NP_000446	Q15831	STK11_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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1267_1268	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	51			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Ins	INS	ENST00000326873.7	37	c.152_153insC	CCDS45896.1																																																																																					0.604	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		18	13	18	13	---	---	---	---
LPAR2	9170	broad.mit.edu	37	19	19737866	19737867	+	Frame_Shift_Del	DEL	CG	CG	-	rs148440416		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:19737866_19737867delCG	ENST00000542587.1	-	5	1129_1130	c.227_228delCG	c.(226-228)gcgfs	p.A77fs	LPAR2_ENST00000407877.3_Frame_Shift_Del_p.A77fs|LPAR2_ENST00000586703.1_Frame_Shift_Del_p.A77fs|LPAR2_ENST00000589311.1_5'Flank			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	77					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGAGGTCAGCCGCGGCCAGATT	0.634																																						uc002nnb.3																			0				ovary(1)|breast(1)	2						c.(226-228)GCGfs		lysophosphatidic acid receptor 2																																				SO:0001589	frameshift_variant	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737866_19737867delCG	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.227_228delCG	19.37:g.19737868_19737869delCG	ENSP00000443256:p.Ala77fs					LPAR2_uc002nna.3_Frame_Shift_Del_p.A76fs|LPAR2_uc002nnc.3_Frame_Shift_Del_p.A76fs	p.A76fs	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN			2	366_367	-			76			Helical; Name=2; (Potential).		O00543|O43431	Frame_Shift_Del	DEL	ENST00000542587.1	37	c.227_228delCG	CCDS12407.1																																																																																					0.634	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		15	8	15	8	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55110733	55110733	+	Frame_Shift_Del	DEL	A	A	-	rs138750900		TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr19:55110733delA	ENST00000251372.3	+	8	1476	c.1294delA	c.(1294-1296)aagfs	p.K432fs	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Frame_Shift_Del_p.K232fs|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	432					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCACAAAACAAGTCCGATTC	0.498																																						uc002qgh.1																			0				skin(2)|ovary(1)	3						c.(1294-1296)AAGfs		leukocyte immunoglobulin-like receptor,							108.0	87.0	94.0					19																	55110733		2203	4300	6503	SO:0001589	frameshift_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55110733delA	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1294delA	19.37:g.55110733delA	ENSP00000251372:p.Lys432fs					LILRA1_uc010yfh.1_Frame_Shift_Del_p.K432fs	p.K432fs	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	8	1476	+			432			Extracellular (Potential).		O75018|Q3MJA6	Frame_Shift_Del	DEL	ENST00000251372.3	37	c.1294delA	CCDS12901.1																																																																																					0.498	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		6	8	6	8	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38470389	38470390	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chr22:38470389_38470390delGC	ENST00000404072.3	+	12	1257_1258	c.910_911delGC	c.(910-912)gcgfs	p.A304fs	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Frame_Shift_Del_p.A304fs	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	304	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCGCCAGGAGGCGCGCGCCCGC	0.688																																						uc003auq.2																			0					0						c.(910-912)GCGfs		protein interacting with C kinase 1																																				SO:0001589	frameshift_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38470389_38470390delGC	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.910_911delGC	22.37:g.38470395_38470396delGC	ENSP00000385205:p.Ala304fs					PICK1_uc003aur.2_Frame_Shift_Del_p.A304fs|PICK1_uc003aus.2_Frame_Shift_Del_p.A304fs|PICK1_uc003aut.2_Frame_Shift_Del_p.A304fs	p.A304fs	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			12	1300_1301	+	Melanoma(58;0.045)		304			AH.		B3KS52|O95906	Frame_Shift_Del	DEL	ENST00000404072.3	37	c.910_911delGC	CCDS13965.1																																																																																					0.688	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		16	10	16	10	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11200215	11200215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-21-5787-01A-01D-1632-08	TCGA-21-5787-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8	0a0a8afb-1b2e-4f01-97a6-725caa618c5d	g.chrX:11200215delG	ENST00000337414.4	-	6	2169	c.1297delC	c.(1297-1299)cgafs	p.R433fs	ARHGAP6_ENST00000534860.1_Frame_Shift_Del_p.R258fs|ARHGAP6_ENST00000413512.3_Frame_Shift_Del_p.R242fs|ARHGAP6_ENST00000380736.1_Frame_Shift_Del_p.R230fs|ARHGAP6_ENST00000380732.3_Frame_Shift_Del_p.R465fs|ARHGAP6_ENST00000380718.1_Frame_Shift_Del_p.R433fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Del_p.R230fs|ARHGAP6_ENST00000491514.1_5'Flank	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	433	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTCCAACTCGGAATATCCCC	0.373																																						uc004cup.1																			0				urinary_tract(1)|lung(1)	2						c.(1297-1299)CGAfs		Rho GTPase activating protein 6 isoform 1							173.0	167.0	169.0					X																	11200215		2203	4300	6503	SO:0001589	frameshift_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11200215delG	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1297delC	X.37:g.11200215delG	ENSP00000338967:p.Arg433fs					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Frame_Shift_Del_p.R433fs|ARHGAP6_uc004cum.1_Frame_Shift_Del_p.R230fs|ARHGAP6_uc004cun.1_Frame_Shift_Del_p.R253fs|ARHGAP6_uc010neb.1_Frame_Shift_Del_p.R255fs|ARHGAP6_uc011mif.1_Frame_Shift_Del_p.R230fs	p.R433fs	NM_013427	NP_038286	O43182	RHG06_HUMAN			6	2170	-			433			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Frame_Shift_Del	DEL	ENST00000337414.4	37	c.1297delC	CCDS14140.1																																																																																					0.373	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		64	48	64	48	---	---	---	---
