#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
ACOT7	11332	broad.mit.edu	37	1	6341204	6341204	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:6341204C>T	ENST00000377855.2	-	8	1148	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S	ACOT7_ENST00000377845.3_Silent_p.S304S|ACOT7_ENST00000377842.3_Silent_p.S283S|ACOT7_ENST00000545482.1_Silent_p.S219S|ACOT7_ENST00000608083.1_Silent_p.S292S|ACOT7_ENST00000361521.4_Silent_p.S324S	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	334					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.S324S(1)|p.S283S(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CCTGGCTCAGCGACACGTAGG	0.647											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(74;673 1226 4974 11850 13190)	uc001ams.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1000-1002)TCG>TCA		acyl-CoA thioesterase 7 isoform hBACHb							57.0	50.0	53.0					1																	6341204		2203	4300	6503	SO:0001819	synonymous_variant	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6341204C>T	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.1002G>A	1.37:g.6341204C>T			OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	ACOT7_uc010nzq.1_Silent_p.S219S|ACOT7_uc001amt.2_Silent_p.S324S|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.S283S|ACOT7_uc001amr.2_Silent_p.S304S	p.S334S	NM_181864	NP_863654	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	8	1159	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	334					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Silent	SNP	ENST00000377855.2	37	c.1002G>A	CCDS65.1																																																																																				PASS	0.647	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		3	22	3	22	---	---	---	---
CELA2A	63036	broad.mit.edu	37	1	15788058	15788058	+	Silent	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:15788058C>G	ENST00000359621.4	+	3	157	c.132C>G	c.(130-132)gtC>gtG	p.V44V		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)	p.V44V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTCCCCAGGTCTCCCTGCAGT	0.597																																						uc001awk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(130-132)GTC>GTG		elastase 2A preproprotein							98.0	86.0	90.0					1																	15788058		2203	4300	6503	SO:0001819	synonymous_variant	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15788058C>G		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.132C>G	1.37:g.15788058C>G							p.V44V	NM_033440	NP_254275	P08217	CEL2A_HUMAN			3	158	+			44			Peptidase S1.		B2R5I4|Q14243	Silent	SNP	ENST00000359621.4	37	c.132C>G	CCDS157.1																																																																																				PASS	0.597	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		9	45	9	45	---	---	---	---
CLCNKA	1187	broad.mit.edu	37	1	16358208	16358208	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:16358208C>A	ENST00000331433.4	+	16	1645	c.1626C>A	c.(1624-1626)tcC>tcA	p.S542S	CLCNKA_ENST00000439316.2_Silent_p.S499S|CLCNKA_ENST00000420078.1_Silent_p.S542S|CLCNKA_ENST00000375692.1_Silent_p.S542S|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	542					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.S542S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTGCAGCTCCCACCATGTGA	0.622																																						uc001axu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1624-1626)TCC>TCA		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						86.0	70.0	76.0					1																	16358208		2203	4300	6503	SO:0001819	synonymous_variant	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16358208C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1626C>A	1.37:g.16358208C>A						CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.S542S|CLCNKA_uc010obw.1_Silent_p.S499S|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_Silent_p.S278S	p.S542S	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1706	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	542					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.1626C>A	CCDS167.1																																																																																				PASS	0.622	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			9	22	9	22	---	---	---	---
PADI4	23569	broad.mit.edu	37	1	17660457	17660457	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:17660457G>T	ENST00000375448.4	+	3	319	c.293G>T	c.(292-294)gGa>gTa	p.G98V	PADI4_ENST00000375453.1_Missense_Mutation_p.G98V|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	98					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.G98V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCATACTACGGACCCAAGACT	0.527																																						uc001baj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(292-294)GGA>GTA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						107.0	90.0	96.0					1																	17660457		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17660457G>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.293G>T	1.37:g.17660457G>T	ENSP00000364597:p.Gly98Val					PADI4_uc009vpc.2_Missense_Mutation_p.G98V	p.G98V	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	3	321	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	98					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.293G>T	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	14.98	2.697660	0.48307	.	.	ENSG00000159339	ENST00000375453;ENST00000358829;ENST00000375448	T;T	0.09723	2.95;2.95	4.62	3.64	0.41730	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.482933	0.19894	N	0.103665	T	0.27278	0.0669	M	0.79123	2.44	0.21325	N	0.999724	D;D	0.52996	0.957;0.957	P;P	0.58721	0.844;0.844	T	0.02269	-1.1185	10	0.62326	D	0.03	-4.6003	11.2218	0.48860	0.0:0.1863:0.8137:0.0	.	98;98	A8K392;Q9UM07	.;PADI4_HUMAN	V	98	ENSP00000364602:G98V;ENSP00000364597:G98V	ENSP00000351690:G98V	G	+	2	0	PADI4	17533044	0.138000	0.22547	0.009000	0.14445	0.060000	0.15804	2.224000	0.42945	2.273000	0.75805	0.557000	0.71058	GGA		PASS	0.527	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		7	27	7	27	---	---	---	---
PAX7	5081	broad.mit.edu	37	1	19062446	19062446	+	Missense_Mutation	SNP	G	G	T	rs200915274		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:19062446G>T	ENST00000375375.3	+	8	2074	c.1476G>T	c.(1474-1476)atG>atT	p.M492I	PAX7_ENST00000400661.3_Missense_Mutation_p.M490I|PAX7_ENST00000420770.2_Intron	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	492					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)	p.M492I(1)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCTTGTTTATGGAGAGctaca	0.552			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	1	Substitution - Missense(1)		lung(1)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(1474-1476)ATG>ATT		paired box 7 isoform 1							34.0	32.0	33.0					1																	19062446		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19062446G>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1476G>T	1.37:g.19062446G>T	ENSP00000364524:p.Met492Ile					PAX7_uc001baz.2_Missense_Mutation_p.M490I|PAX7_uc010oct.1_Intron	p.M492I	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	8	2074	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	492					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1476G>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472585	0.26423	.	.	ENSG00000009709	ENST00000375375;ENST00000400661	D;D	0.94613	-3.47;-3.47	4.1	0.0135	0.14096	.	646.187000	0.00166	N	0.000000	D	0.87196	0.6117	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77807	-0.2450	10	0.41790	T	0.15	.	6.1449	0.20280	0.617:0.0:0.383:0.0	.	490;492	P23759-2;P23759	.;PAX7_HUMAN	I	492;490	ENSP00000364524:M492I;ENSP00000383502:M490I	ENSP00000364524:M492I	M	+	3	0	PAX7	18935033	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-0.673000	0.05239	-0.043000	0.13513	-0.672000	0.03802	ATG		PASS	0.552	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		4	26	4	26	---	---	---	---
ALDH4A1	8659	broad.mit.edu	37	1	19212005	19212006	+	Missense_Mutation	DNP	GC	GC	AG	rs141755639	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:19212005_19212006GC>AG	ENST00000375341.3	-	5	671_672	c.414_415GC>CT	c.(412-417)ccGCgc>ccCTgc	p.R139C	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.R139C|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.R139C|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.R79C	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	139					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.R139C(4)|p.P138P(2)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCCCTGCGCGGCCCACTCA	0.668																																						uc001bbb.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)		0						c.(415-417)CGC>TGC|c.(412-414)CCG>CCC		aldehyde dehydrogenase 4A1 isoform a precursor	NADH(DB00157)																																			SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19212005G>A|g.chr1:19212006C>G	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.414_415delinsAG	1.37:g.19212005_19212006delinsAG	ENSP00000364490:p.Arg139Cys					ALDH4A1_uc010ocu.1_Missense_Mutation_p.R79C|ALDH4A1_uc001bbc.2_Missense_Mutation_p.R139C|ALDH4A1_uc010ocu.1_Silent_p.P78P|ALDH4A1_uc001bbc.2_Silent_p.P138P	p.R139C|p.P138P	NM_170726	NP_733844	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	691|690	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	139|138					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation|Silent	SNP	ENST00000375341.3	37	c.415C>T|c.414G>C	CCDS188.1																																																																																				PASS	0.668	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			5	8	5	8	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19451160	19451160	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:19451160C>A	ENST00000375254.3	-	65	9490	c.9463G>T	c.(9463-9465)Gcc>Tcc	p.A3155S	UBR4_ENST00000375217.2_Missense_Mutation_p.A3148S|UBR4_ENST00000375226.2_Missense_Mutation_p.A3131S|UBR4_ENST00000375267.2_Missense_Mutation_p.A3155S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3155					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A3155S(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAGTATAGGCCTCAAACACA	0.433																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9463-9465)GCC>TCC		retinoblastoma-associated factor 600							150.0	141.0	144.0					1																	19451160		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19451160C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9463G>T	1.37:g.19451160C>A	ENSP00000364403:p.Ala3155Ser					UBR4_uc001bbk.1_Missense_Mutation_p.A802S	p.A3155S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	65	9467	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3155					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.9463G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449226	0.63178	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.02676	-1.1125	10	0.05436	T	0.98	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	3155	Q5T4S7	UBR4_HUMAN	S	3155;3155;3148;3131;763;1841	ENSP00000364403:A3155S;ENSP00000364416:A3155S;ENSP00000364365:A3148S;ENSP00000364374:A3131S	ENSP00000364365:A3148S	A	-	1	0	UBR4	19323747	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	GCC		PASS	0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	41	4	41	---	---	---	---
CAPZB	832	broad.mit.edu	37	1	19666102	19666102	+	3'UTR	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:19666102C>A	ENST00000375142.1	-	0	900				CAPZB_ENST00000264203.3_Missense_Mutation_p.D248Y|CAPZB_ENST00000433834.1_Missense_Mutation_p.Q276H|CAPZB_ENST00000375144.1_Missense_Mutation_p.Q235H|CAPZB_ENST00000401084.2_Missense_Mutation_p.Q247H	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta						actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q247H(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTGCAAAAGTCTGCACAGACC	0.517																																						uc010ocz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)CAG>CAT		F-actin capping protein beta subunit							176.0	173.0	174.0					1																	19666102		1921	4140	6061	SO:0001624	3_prime_UTR_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19666102C>A	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.*20G>T	1.37:g.19666102C>A						CAPZB_uc001bce.2_Missense_Mutation_p.Q247H|CAPZB_uc009vpk.2_Missense_Mutation_p.D248Y|CAPZB_uc001bcd.2_Missense_Mutation_p.Q235H	p.Q276H	NM_004930	NP_004921	P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	9	1256	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.828G>T	CCDS55579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.107460|4.107460	0.77096|0.77096	.|.	.|.	ENSG00000077549|ENSG00000077549	ENST00000264203|ENST00000401084;ENST00000375144;ENST00000433834;ENST00000375145	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.415810	.|0.28828	.|N	.|0.014012	T|T	0.41328|0.41328	0.1154|0.1154	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|P;B;P	0.45396|0.44309	0.857|0.832;0.001;0.661	P|B;B;B	0.49301|0.40659	0.606|0.336;0.005;0.229	T|T	0.33420|0.33420	-0.9869|-0.9869	8|9	0.15499|0.41790	T|T	0.54|0.15	-17.4635|-17.4635	19.1882|19.1882	0.93653|0.93653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	248|276;247;235	B1AK85|B1AK88;P47756-2;B1AK87	.|.;.;.	Y|H	248|247;235;276;309	.|.	ENSP00000264203:D248Y|ENSP00000364286:Q235H	D|Q	-|-	1|3	0|2	CAPZB|CAPZB	19538689|19538689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	5.163000|5.163000	0.64948|0.64948	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GAC|CAG		PASS	0.517	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			32	132	32	132	---	---	---	---
RHD	6007	broad.mit.edu	37	1	25627436	25627436	+	Splice_Site	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:25627436G>A	ENST00000328664.4	+	4	641		c.e4-1		RHD_ENST00000423253.1_Splice_Site|RHD_ENST00000454452.2_Splice_Site|RHD_ENST00000423810.2_Splice_Site|RHD_ENST00000357542.4_Splice_Site|RHD_ENST00000342055.5_Splice_Site|RHD_ENST00000417538.2_Splice_Site|RHD_ENST00000568195.1_Splice_Site	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen							integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.?(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTTTATTGCAGACAGACTACC	0.537																																						uc001bjz.2																			1	Unknown(1)		lung(1)	breast(1)	1						c.e4-1		Rh blood group D antigen isoform 1							185.0	130.0	150.0					1																	25627436		2118	3752	5870	SO:0001630	splice_region_variant	6007					integral to plasma membrane		g.chr1:25627436G>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.487-1G>A	1.37:g.25627436G>A						RHD_uc010oep.1_Splice_Site_p.T163_splice|RHD_uc001bkc.2_Splice_Site_p.T163_splice|RHD_uc009vrm.2_Intron|RHD_uc001bka.2_Splice_Site_p.T163_splice|RHD_uc001bkb.2_Splice_Site_p.T163_splice|RHD_uc009vrn.2_Splice_Site_p.T163_splice|RHD_uc009vro.2_Splice_Site_p.T163_splice|RHD_uc009vrp.2_Splice_Site_p.T163_splice	p.T163_splice	NM_016124	NP_057208	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	545	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)						Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Splice_Site	SNP	ENST00000328664.4	37	c.487_splice	CCDS262.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134422	0.37630	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8715	0.52523	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHD	25500023	1.000000	0.71417	0.452000	0.26994	0.098000	0.18820	4.917000	0.63369	1.918000	0.55548	0.393000	0.25936	.		PASS	0.537	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124	Intron	13	88	13	88	---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27480681	27480681	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:27480681A>C	ENST00000263980.3	-	1	720	c.145T>G	c.(145-147)Tca>Gca	p.S49A	SLC9A1_ENST00000374086.3_Missense_Mutation_p.S49A|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	49					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.S49A(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGCTCTGAGCTTCGAATG	0.597																																						uc001bnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(145-147)TCA>GCA		solute carrier family 9, isoform A1	Amiloride(DB00594)						103.0	95.0	98.0					1																	27480681		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27480681A>C	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.145T>G	1.37:g.27480681A>C	ENSP00000263980:p.Ser49Ala					SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.S49A	p.S49A	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	1	771	-			49			Extracellular (Potential).		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.145T>G	CCDS295.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094357	0.36952	.	.	ENSG00000090020	ENST00000263980;ENST00000374086;ENST00000374084	T;T	0.63913	0.94;-0.07	4.29	3.14	0.36123	.	0.306920	0.24316	N	0.039586	T	0.42223	0.1193	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28170	-1.0052	10	0.27082	T	0.32	.	7.1827	0.25782	0.7482:0.2518:0.0:0.0	.	49;49	P19634-2;P19634	.;SL9A1_HUMAN	A	49	ENSP00000263980:S49A;ENSP00000363199:S49A	ENSP00000263980:S49A	S	-	1	0	SLC9A1	27353268	0.997000	0.39634	0.997000	0.53966	0.942000	0.58702	2.189000	0.42621	1.812000	0.52913	0.459000	0.35465	TCA		PASS	0.597	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		8	30	8	30	---	---	---	---
SRSF4	6429	broad.mit.edu	37	1	29475183	29475183	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:29475183G>A	ENST00000373795.4	-	6	1458	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	408	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S408S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ACACGGAGCGGGATGGAGATC	0.577																																						uc001bro.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1222-1224)TCC>TCT		splicing factor, arginine/serine-rich 4							153.0	161.0	159.0					1																	29475183		2203	4300	6503	SO:0001819	synonymous_variant	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475183G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1224C>T	1.37:g.29475183G>A						SFRS4_uc010ofy.1_3'UTR	p.S408S	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	6	1597	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	408			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	37	c.1224C>T	CCDS333.1																																																																																				PASS	0.577	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		48	126	48	126	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34123686	34123686	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:34123686C>T	ENST00000373380.1	-	6	1146	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	CSMD2_ENST00000373381.4_Missense_Mutation_p.R1436Q|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1396						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1396Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCACCACTCCGACTCCCATT	0.587																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(4186-4188)CGG>CAG		CUB and Sushi multiple domains 2							102.0	95.0	97.0					1																	34123686		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34123686C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.926G>A	1.37:g.34123686C>T	ENSP00000362478:p.Arg309Gln					CSMD2_uc001bxm.1_Missense_Mutation_p.R1436Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R309Q	p.R1396Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			27	4216	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1396			Extracellular (Potential).|Sushi 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4187G>A		.	.	.	.	.	.	.	.	.	.	c	36	5.766060	0.96914	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.24723	1.84;1.84	5.94	5.94	0.96194	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.991	P;D;P	0.69142	0.833;0.962;0.817	T	0.53136	-0.8481	10	0.41790	T	0.15	.	19.348	0.94373	0.0:1.0:0.0:0.0	.	309;1396;1436	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1436;309	ENSP00000362479:R1436Q;ENSP00000362478:R309Q	ENSP00000241312:R1396Q	R	-	2	0	CSMD2	33896273	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	7.815000	0.86186	2.813000	0.96785	0.558000	0.71614	CGG		PASS	0.587	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		21	54	21	54	---	---	---	---
GJB5	2709	broad.mit.edu	37	1	35223426	35223426	+	Silent	SNP	C	C	T	rs149592496	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:35223426C>T	ENST00000338513.1	+	2	668	c.495C>T	c.(493-495)caC>caT	p.H165H	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	165					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.H165H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCAAGTGCCACGCAGATCCAT	0.512													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22273	0.0		0.0	False		,,,				2504	0.001					uc001bxu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(493-495)CAC>CAT		gap junction protein, beta 5, 31.1kDa		C		3,4403	6.2+/-15.9	0,3,2200	105.0	91.0	96.0		495	-5.8	0.0	1	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	GJB5	NM_005268.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		165/274	35223426	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223426C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.495C>T	1.37:g.35223426C>T						GJB4_uc001bxv.1_5'Flank	p.H165H	NM_005268	NP_005259	O95377	CXB5_HUMAN			2	595	+		Myeloproliferative disorder(586;0.0393)	165			Extracellular (Potential).		Q9UPA3	Silent	SNP	ENST00000338513.1	37	c.495C>T	CCDS382.1																																																																																				PASS	0.512	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		18	50	18	50	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39823534	39823534	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:39823534C>G	ENST00000372915.3	+	44	12014	c.11927C>G	c.(11926-11928)gCa>gGa	p.A3976G	MACF1_ENST00000539005.1_Missense_Mutation_p.A1909G|MACF1_ENST00000545844.1_Missense_Mutation_p.A1909G|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.A1909G|MACF1_ENST00000361689.2_Missense_Mutation_p.A1909G|MACF1_ENST00000289893.4_Missense_Mutation_p.A2411G|MACF1_ENST00000564288.1_Missense_Mutation_p.A3971G|MACF1_ENST00000567887.1_Missense_Mutation_p.A4008G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3976					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.A2411G(1)|p.A1909G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAAGGATGCAACAGAAAGA	0.433																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7231-7233)GCA>GGA		microfilament and actin filament cross-linker							65.0	60.0	62.0					1																	39823534		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39823534C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11927C>G	1.37:g.39823534C>G	ENSP00000362006:p.Ala3976Gly					MACF1_uc010ois.1_Missense_Mutation_p.A1909G|MACF1_uc001cda.1_Missense_Mutation_p.A1817G|MACF1_uc001cdc.1_Missense_Mutation_p.A996G|MACF1_uc001cdb.1_Missense_Mutation_p.A996G	p.A2411G	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	7363	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3976					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7232C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.531060|4.531060	0.85706|0.85706	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32;1.32;1.32|.	6.07|6.07	5.16|5.16	0.70880|0.70880	.|.	0.093025|.	0.47093|.	D|.	0.000257|.	T|T	0.75664|0.75664	0.3880|0.3880	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.995|.	D;D;D;D|.	0.85130|.	0.997;0.994;0.986;0.958|.	T|T	0.76906|0.76906	-0.2786|-0.2786	10|5	0.72032|.	D|.	0.01|.	.|.	15.5565|15.5565	0.76200|0.76200	0.0:0.9341:0.0:0.0659|0.0:0.9341:0.0:0.0659	.|.	3976;1909;1909;1874|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	G|W	1909;3976;1909;1909;1909;2411|1042	ENSP00000439537:A1909G;ENSP00000362006:A3976G;ENSP00000354573:A1909G;ENSP00000313438:A1909G;ENSP00000444364:A1909G;ENSP00000289893:A2411G|.	ENSP00000289893:A2411G|.	A|C	+|+	2|3	0|2	MACF1|MACF1	39596121|39596121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	7.412000|7.412000	0.80091|0.80091	1.579000|1.579000	0.49836|0.49836	-0.150000|-0.150000	0.13652|0.13652	GCA|TGC		PASS	0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	9	10	9	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43897158	43897158	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:43897158G>T	ENST00000562955.1	+	34	4881	c.4881G>T	c.(4879-4881)acG>acT	p.T1627T	SZT2_ENST00000372442.1_Silent_p.T785T	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1684					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.T785T(2)|p.T1627T(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ATTTGGCCACGCCCCACAGAC	0.463																																						uc001cjk.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(2353-2355)ACG>ACT		hypothetical protein LOC23334							118.0	120.0	119.0					1																	43897158		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43897158G>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4881G>T	1.37:g.43897158G>T							p.T785T	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			20	2817	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1684					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.2355G>T	CCDS30694.2																																																																																				PASS	0.463	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		13	101	13	101	---	---	---	---
TMEM53	79639	broad.mit.edu	37	1	45120240	45120240	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:45120240G>A	ENST00000372237.3	-	3	988	c.825C>T	c.(823-825)gtC>gtT	p.V275V	TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Silent_p.V245V	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	275						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V275V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CTCAGCAGCGGACGCAGTTGC	0.542																																						uc001cmc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(823-825)GTC>GTT		transmembrane protein 53							85.0	94.0	91.0					1																	45120240		2203	4300	6503	SO:0001819	synonymous_variant	79639					integral to membrane		g.chr1:45120240G>A		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.825C>T	1.37:g.45120240G>A						TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.V202V|TMEM53_uc009vxh.1_Silent_p.V158V|TMEM53_uc010ola.1_Silent_p.V158V	p.V275V	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN			3	861	-	Acute lymphoblastic leukemia(166;0.155)		275					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Silent	SNP	ENST00000372237.3	37	c.825C>T	CCDS511.1																																																																																				PASS	0.542	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		5	55	5	55	---	---	---	---
FOXE3	2301	broad.mit.edu	37	1	47882444	47882444	+	Missense_Mutation	SNP	G	G	A	rs367943249		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:47882444G>A	ENST00000335071.2	+	1	701	c.457G>A	c.(457-459)Gac>Aac	p.D153N		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	153					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D153Y(1)|p.D153N(1)		lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCGGCCGCAGACATGTTCGA	0.721																																						uc001crk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(457-459)GAC>AAC		forkhead box E3							28.0	31.0	30.0					1																	47882444		2201	4298	6499	SO:0001583	missense	2301				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding	g.chr1:47882444G>A	AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.457G>A	1.37:g.47882444G>A	ENSP00000334472:p.Asp153Asn						p.D153N	NM_012186	NP_036318	Q13461	FOXE3_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	701	+			153			Fork-head.		Q5SVY9|Q9NQV9	Missense_Mutation	SNP	ENST00000335071.2	37	c.457G>A	CCDS550.1	.	.	.	.	.	.	.	.	.	.	g	17.24	3.338541	0.60963	.	.	ENSG00000186790	ENST00000335071	D	0.95412	-3.7	3.45	3.45	0.39498	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.39407	U	0.001374	D	0.94434	0.8209	N	0.17838	0.53	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.92033	0.5635	10	0.16420	T	0.52	.	15.087	0.72162	0.0:0.0:1.0:0.0	.	153	Q13461	FOXE3_HUMAN	N	153	ENSP00000334472:D153N	ENSP00000334472:D153N	D	+	1	0	FOXE3	47655031	1.000000	0.71417	0.994000	0.49952	0.438000	0.31896	3.189000	0.50965	1.749000	0.51849	0.454000	0.30748	GAC		PASS	0.721	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021836.1	NM_012186		8	37	8	37	---	---	---	---
GLIS1	148979	broad.mit.edu	37	1	53986384	53986384	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:53986384T>C	ENST00000312233.2	-	6	1690	c.1124A>G	c.(1123-1125)cAg>cGg	p.Q375R		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.Q375R(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GTGGAGCTGCTGCAGGACCAG	0.672																																						uc001cvr.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1123-1125)CAG>CGG		GLIS family zinc finger 1							29.0	29.0	29.0					1																	53986384		2200	4298	6498	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53986384T>C	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1124A>G	1.37:g.53986384T>C	ENSP00000309653:p.Gln375Arg						p.Q375R	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			6	1691	-			375						Missense_Mutation	SNP	ENST00000312233.2	37	c.1124A>G	CCDS582.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684928	0.68157	.	.	ENSG00000174332	ENST00000312233	T	0.12255	2.7	4.89	1.06	0.20224	.	0.139161	0.32301	N	0.006288	T	0.11367	0.0277	L	0.36672	1.1	0.44660	D	0.997648	B	0.25955	0.138	B	0.34452	0.183	T	0.10683	-1.0619	10	0.56958	D	0.05	.	6.5004	0.22166	0.0:0.0812:0.2969:0.6218	.	375	Q8NBF1	GLIS1_HUMAN	R	375	ENSP00000309653:Q375R	ENSP00000309653:Q375R	Q	-	2	0	GLIS1	53758972	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.016000	0.49607	0.790000	0.33803	0.459000	0.35465	CAG		PASS	0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		3	9	3	9	---	---	---	---
C8A	731	broad.mit.edu	37	1	57383237	57383238	+	Splice_Site	DNP	GG	GG	TT			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:57383237_57383238GG>TT	ENST00000361249.3	+	11	1699_1700	c.1603_1604GG>TT	c.(1603-1605)GGa>TTa	p.G535L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	535					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.?(2)|p.G535V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTCCTCTGCAGGAGCCAAAGCA	0.554																																						uc001cyo.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e11-1|c.(1603-1605)GGA>GTA		complement component 8, alpha polypeptide																																				SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383237G>T|g.chr1:57383238G>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	Exception_encountered	1.37:g.57383237_57383238delinsTT							p.G535_splice|p.G535V	NM_000562	NP_000553	P07357	CO8A_HUMAN			11	1736	+			|535					A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site|Missense_Mutation	SNP	ENST00000361249.3	37	c.1604_splice|c.1604G>T	CCDS606.1																																																																																				PASS	0.554	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Missense_Mutation	14	23|25	14	23	---	---	---	---
JUN	3725	broad.mit.edu	37	1	59248409	59248409	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:59248409C>G	ENST00000371222.2	-	1	1376	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	112					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E112Q(1)|p.E112K(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	ACGAAGCCCTCGGCGAAGCCC	0.672			A		sarcoma																																	uc001cze.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		2	Substitution - Missense(2)		lung(2)		0						c.(334-336)GAG>CAG		jun oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						52.0	56.0	55.0					1																	59248409		2197	4294	6491	SO:0001583	missense	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248409C>G	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.334G>C	1.37:g.59248409C>G	ENSP00000360266:p.Glu112Gln					uc001czf.2_5'Flank|uc010oop.1_5'Flank	p.E112Q	NM_002228	NP_002219	P05412	JUN_HUMAN			1	1377	-	all_cancers(7;8.55e-07)		112					Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	c.334G>C	CCDS610.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641822	0.87859	.	.	ENSG00000177606	ENST00000371222	T	0.35973	1.28	4.16	4.16	0.48862	Jun-like transcription factor (1);	0.000000	0.64402	U	0.000001	T	0.56601	0.1996	L	0.56396	1.775	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.62110	-0.6923	10	0.72032	D	0.01	-3.6967	16.6844	0.85301	0.0:1.0:0.0:0.0	.	112	P05412	JUN_HUMAN	Q	112	ENSP00000360266:E112Q	ENSP00000360266:E112Q	E	-	1	0	JUN	59020997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.139000	0.66308	0.561000	0.74099	GAG		PASS	0.672	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		19	66	19	66	---	---	---	---
ATG4C	84938	broad.mit.edu	37	1	63329799	63329799	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:63329799G>C	ENST00000317868.4	+	11	1553	c.1346G>C	c.(1345-1347)aGa>aCa	p.R449T	ATG4C_ENST00000371120.3_Missense_Mutation_p.R449T	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	449					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.R449T(2)|p.R449I(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CAATTAAAAAGATTTAGCACG	0.313																																						uc001dat.2																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(1)	1						c.(1345-1347)AGA>ACA		APG4 autophagy 4 homolog C isoform 8							52.0	56.0	55.0					1																	63329799		2198	4292	6490	SO:0001583	missense	84938				autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	g.chr1:63329799G>C	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1346G>C	1.37:g.63329799G>C	ENSP00000322159:p.Arg449Thr					ATG4C_uc001dau.2_Missense_Mutation_p.R449T	p.R449T	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN			11	1508	+			449					A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	c.1346G>C	CCDS623.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451692	0.63290	.	.	ENSG00000125703	ENST00000317868;ENST00000371120	.	.	.	5.22	4.29	0.51040	.	0.106741	0.64402	D	0.000009	T	0.53142	0.1778	M	0.71581	2.175	0.37409	D	0.913172	P	0.47910	0.902	P	0.51135	0.66	T	0.54925	-0.8220	9	0.22109	T	0.4	-23.8665	14.8806	0.70531	0.0:0.0:0.8552:0.1448	.	449	Q96DT6	ATG4C_HUMAN	T	449	.	ENSP00000322159:R449T	R	+	2	0	ATG4C	63102387	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.109000	0.64615	1.148000	0.42385	0.585000	0.79938	AGA		PASS	0.313	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		13	35	13	35	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65855081	65855081	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:65855081A>G	ENST00000395325.3	+	10	1322	c.1165A>G	c.(1165-1167)Agc>Ggc	p.S389G	DNAJC6_ENST00000263441.7_Missense_Mutation_p.S376G|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S446G	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	389					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.S389G(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TGTCAATCCCAGCATCCTCTT	0.443																																						uc001dcd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1165-1167)AGC>GGC		DnaJ (Hsp40) homolog, subfamily C, member 6							144.0	125.0	131.0					1																	65855081		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855081A>G	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1165A>G	1.37:g.65855081A>G	ENSP00000378735:p.Ser389Gly					DNAJC6_uc001dcc.1_Missense_Mutation_p.S420G|DNAJC6_uc010opc.1_Missense_Mutation_p.S376G|DNAJC6_uc001dce.1_Missense_Mutation_p.S446G	p.S389G	NM_014787	NP_055602	O75061	AUXI_HUMAN			10	1329	+			389					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.1165A>G	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263247	0.59431	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.92965	-3.14;-3.14;-3.14	5.46	5.46	0.80206	.	0.166837	0.64402	D	0.000004	T	0.78059	0.4224	L	0.36672	1.1	0.40558	D	0.98118	B;P;P	0.38565	0.437;0.507;0.637	B;B;B	0.27715	0.072;0.033;0.082	T	0.79152	-0.1921	10	0.23891	T	0.37	.	12.0034	0.53243	0.8709:0.0:0.0:0.1291	.	446;389;376	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	G	376;389;446	ENSP00000263441:S376G;ENSP00000378735:S389G;ENSP00000360108:S446G	ENSP00000263441:S376G	S	+	1	0	DNAJC6	65627669	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.744000	0.68664	2.291000	0.77112	0.533000	0.62120	AGC		PASS	0.443	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			16	39	16	39	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70291484	70291484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:70291484G>T	ENST00000035383.5	+	3	391	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.E126*|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.E159*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	121						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.E159*(1)|p.E121*(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACAATTATTGAAGCCAGTGT	0.274																																						uc001dep.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(361-363)GAA>TAA		leucine rich repeat containing 7							79.0	78.0	79.0					1																	70291484		2203	4283	6486	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70291484G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.361G>T	1.37:g.70291484G>T	ENSP00000035383:p.Glu121*					LRRC7_uc001deo.1_Nonsense_Mutation_p.E159*|LRRC7_uc009wbg.2_5'UTR	p.E121*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			3	391	+			121			LRR 5.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.361G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	38	6.766122	0.97821	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.1861	0.89793	0.0:0.0:1.0:0.0	.	.	.	.	X	126;159;121;121	.	ENSP00000035383:E121X	E	+	1	0	LRRC7	70064072	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.616000	0.88540	0.655000	0.94253	GAA		PASS	0.274	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		4	44	4	44	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70493891	70493891	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:70493891C>G	ENST00000035383.5	+	16	1748	c.1718C>G	c.(1717-1719)cCa>cGa	p.P573R	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.P578R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	573						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P573R(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACTCCTTACCCAGAGGATTTA	0.348																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1717-1719)CCA>CGA		leucine rich repeat containing 7							74.0	79.0	78.0					1																	70493891		2203	4299	6502	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70493891C>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1718C>G	1.37:g.70493891C>G	ENSP00000035383:p.Pro573Arg					LRRC7_uc009wbg.2_Intron	p.P573R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			16	1748	+			573					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1718C>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463579	0.84425	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.18016	2.24;2.24	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.25865	0.0630	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01081	-1.1458	10	0.54805	T	0.06	.	19.3434	0.94355	0.0:1.0:0.0:0.0	.	573	Q96NW7	LRRC7_HUMAN	R	578;573;396	ENSP00000309245:P578R;ENSP00000035383:P573R	ENSP00000035383:P573R	P	+	2	0	LRRC7	70266479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.241000	0.78201	2.812000	0.96745	0.557000	0.71058	CCA		PASS	0.348	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		12	50	12	50	---	---	---	---
PTGER3	5733	broad.mit.edu	37	1	71478136	71478136	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:71478136G>A	ENST00000306666.5	-	2	1139	c.929C>T	c.(928-930)aCa>aTa	p.T310I	PTGER3_ENST00000370932.2_Missense_Mutation_p.T310I|PTGER3_ENST00000354608.5_Missense_Mutation_p.T310I|PTGER3_ENST00000370924.4_Missense_Mutation_p.T310I|PTGER3_ENST00000460330.1_Missense_Mutation_p.T310I|PTGER3_ENST00000356595.4_Missense_Mutation_p.T310I|PTGER3_ENST00000370931.3_Missense_Mutation_p.T310I|PTGER3_ENST00000414819.1_Missense_Mutation_p.T310I|PTGER3_ENST00000351052.5_Missense_Mutation_p.T310I	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	310					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.T310I(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTCAACTGATGTCTGATTGAA	0.393																																						uc001dfg.1																			5	Substitution - Missense(5)		lung(5)	pancreas(1)|lung(1)|skin(1)	3						c.(928-930)ACA>ATA		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						108.0	102.0	104.0					1																	71478136		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71478136G>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.929C>T	1.37:g.71478136G>A	ENSP00000302313:p.Thr310Ile					PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.T310I|PTGER3_uc001dfl.1_Missense_Mutation_p.T310I|PTGER3_uc009wbm.1_Missense_Mutation_p.T310I|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.T310I|PTGER3_uc009wbn.1_Missense_Mutation_p.T310I|PTGER3_uc009wbo.2_Missense_Mutation_p.T310I|PTGER3_uc001dfo.2_Missense_Mutation_p.T310I|PTGER3_uc001dfp.1_Missense_Mutation_p.T310I|PTGER3_uc001dfq.2_Missense_Mutation_p.T310I	p.T310I	NM_198714	NP_942007	P43115	PE2R3_HUMAN			2	1160	-			310			Extracellular (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.929C>T	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810092	0.32053	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.65	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.313747	0.33792	N	0.004557	T	0.48804	0.1520	L	0.42245	1.32	0.33946	D	0.643898	B;B;B;B;B;B;B;B	0.31026	0.197;0.19;0.164;0.304;0.304;0.259;0.259;0.19	B;B;B;B;B;B;B;B	0.33196	0.11;0.113;0.098;0.159;0.11;0.069;0.098;0.113	T	0.50693	-0.8798	10	0.33940	T	0.23	-5.8685	13.3574	0.60635	0.0778:0.0:0.9222:0.0	.	310;310;310;310;310;310;310;310	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	I	310	ENSP00000359969:T310I;ENSP00000359970:T310I;ENSP00000280208:T310I;ENSP00000418073:T310I;ENSP00000346624:T310I;ENSP00000349003:T310I;ENSP00000401423:T310I;ENSP00000302313:T310I;ENSP00000359962:T310I	ENSP00000302313:T310I	T	-	2	0	PTGER3	71250724	1.000000	0.71417	0.959000	0.39883	0.775000	0.43874	3.900000	0.56295	1.365000	0.46057	0.491000	0.48974	ACA		PASS	0.393	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		7	37	7	37	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74832986	74832986	+	Silent	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:74832986A>G	ENST00000370899.3	+	14	1564	c.1527A>G	c.(1525-1527)caA>caG	p.Q509Q	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Silent_p.Q509Q|FPGT-TNNI3K_ENST00000557284.2_Silent_p.Q522Q|TNNI3K_ENST00000370891.2_Silent_p.Q509Q|TNNI3K_ENST00000326637.3_Silent_p.Q408Q	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.Q408Q(1)									AGAGACCACAAGATGAATTGC	0.348																																						uc001dgf.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1222-1224)CAA>CAG		TNNI3 interacting kinase isoform b							151.0	161.0	157.0					1																	74832986		2203	4299	6502	SO:0001819	synonymous_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74832986A>G			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1527A>G	1.37:g.74832986A>G						TNNI3K_uc001dgc.1_Silent_p.Q509Q|TNNI3K_uc001dgd.2_Silent_p.Q509Q|TNNI3K_uc001dge.1_Silent_p.Q509Q	p.Q408Q	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			12	1275	+			408			ANK 10.			Silent	SNP	ENST00000370899.3	37	c.1224A>G																																																																																					PASS	0.348	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			16	78	16	78	---	---	---	---
RABGGTB	5876	broad.mit.edu	37	1	76254853	76254853	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:76254853A>T	ENST00000319942.3	+	3	192	c.121A>T	c.(121-123)Atg>Ttg	p.M41L	SNORD45C_ENST00000383893.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|SNORD45B_ENST00000364617.1_RNA|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000370826.3_Missense_Mutation_p.M41L|RABGGTB_ENST00000535300.1_De_novo_Start_InFrame	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	41					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.M41L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GGAATACTGTATGTCTGAGTA	0.353																																						uc001dgy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)ATG>TTG		RAB geranylgeranyltransferase, beta subunit							119.0	118.0	118.0					1																	76254853		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76254853A>T	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.121A>T	1.37:g.76254853A>T	ENSP00000317473:p.Met41Leu					RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_5'UTR|SNORD45B_uc009wbv.1_5'Flank	p.M41L	NM_004582	NP_004573	P53611	PGTB2_HUMAN			3	192	+			41			PFTB 1.		Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.121A>T	CCDS669.1	.	.	.	.	.	.	.	.	.	.	A	9.013	0.983091	0.18889	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	T;T	0.39229	1.09;1.09	4.92	4.92	0.64577	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.045125	0.85682	D	0.000000	T	0.09949	0.0244	N	0.13327	0.33	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11616	-1.0580	10	0.02654	T	1	-10.0084	14.5499	0.68059	1.0:0.0:0.0:0.0	.	41	P53611	PGTB2_HUMAN	L	41	ENSP00000317473:M41L;ENSP00000359862:M41L	ENSP00000317473:M41L	M	+	1	0	RABGGTB	76027441	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	5.306000	0.65756	1.838000	0.53458	0.533000	0.62120	ATG		PASS	0.353	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		11	65	11	65	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76280782	76280782	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:76280782T>A	ENST00000263187.3	+	5	880	c.776T>A	c.(775-777)aTa>aAa	p.I259K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	259					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.I259K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAGTTATGCATAGCAGAATTC	0.299								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(775-777)ATA>AAA	MMR	mutS homolog 4							88.0	91.0	90.0					1																	76280782		2203	4299	6502	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76280782T>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.776T>A	1.37:g.76280782T>A	ENSP00000263187:p.Ile259Lys						p.I259K	NM_002440	NP_002431	O15457	MSH4_HUMAN			5	817	+			259					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.776T>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.343425	0.41498	.	.	ENSG00000057468	ENST00000263187	D	0.86769	-2.17	5.23	2.89	0.33648	DNA mismatch repair protein MutS, connector (2);	0.376140	0.32444	N	0.006086	T	0.62405	0.2425	N	0.22421	0.69	0.41607	D	0.988887	B	0.13594	0.008	B	0.20577	0.03	T	0.56105	-0.8034	10	0.17832	T	0.49	-32.8564	9.3135	0.37919	0.0:0.218:0.0:0.782	.	259	O15457	MSH4_HUMAN	K	259	ENSP00000263187:I259K	ENSP00000263187:I259K	I	+	2	0	MSH4	76053370	0.837000	0.29446	0.998000	0.56505	0.994000	0.84299	0.487000	0.22356	0.963000	0.38082	0.533000	0.62120	ATA		PASS	0.299	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		11	57	11	57	---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78099011	78099011	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:78099011G>C	ENST00000370801.3	-	5	504	c.29C>G	c.(28-30)aCa>aGa	p.T10R	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	10					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T10R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGTTGATCTTGTAACACGAGT	0.403																																						uc001dhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(28-30)ACA>AGA		zinc finger, ZZ-type containing 3							51.0	52.0	52.0					1																	78099011		2202	4300	6502	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78099011G>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.29C>G	1.37:g.78099011G>C	ENSP00000359837:p.Thr10Arg					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.T10R|ZZZ3_uc001dhp.2_Missense_Mutation_p.T10R	p.T10R	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	505	-			10					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.29C>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399000	0.62177	.	.	ENSG00000036549	ENST00000370801;ENST00000433749;ENST00000414381	.	.	.	5.57	4.66	0.58398	.	0.053834	0.64402	D	0.000001	T	0.67211	0.2869	L	0.59436	1.845	0.80722	D	1	D;P;D	0.67145	0.996;0.938;0.963	D;P;P	0.63957	0.92;0.58;0.76	T	0.73110	-0.4086	9	0.87932	D	0	.	14.8104	0.69992	0.0692:0.0:0.9308:0.0	.	10;10;10	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	R	10	.	ENSP00000359837:T10R	T	-	2	0	ZZZ3	77871599	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.476000	0.97823	1.501000	0.48654	-0.145000	0.13849	ACA		PASS	0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		27	67	27	67	---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79101166	79101166	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:79101166A>T	ENST00000370751.5	+	5	1047	c.868A>T	c.(868-870)Aga>Tga	p.R290*	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Nonsense_Mutation_p.R32*	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	290					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.R251*(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TATGCCAGACAGATATCAGGT	0.383																																						uc010oro.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(868-870)AGA>TGA		interferon-induced protein 44-like							126.0	123.0	124.0					1																	79101166		2203	4300	6503	SO:0001587	stop_gained	10964					cytoplasm		g.chr1:79101166A>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.868A>T	1.37:g.79101166A>T	ENSP00000359787:p.Arg290*					IFI44L_uc010orp.1_Nonsense_Mutation_p.R27*|IFI44L_uc010orq.1_Nonsense_Mutation_p.R27*	p.R290*	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			5	1047	+			290					Q86TE1|Q96B64|Q99984	Nonsense_Mutation	SNP	ENST00000370751.5	37	c.868A>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	A	36	5.640756	0.96693	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	.	.	.	4.54	3.3	0.37823	.	0.222050	0.35495	N	0.003166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2894	9.0519	0.36380	0.8149:0.185:0.0:0.0	.	.	.	.	X	290;32	.	ENSP00000342833:R32X	R	+	1	2	IFI44L	78873754	0.282000	0.24268	0.999000	0.59377	0.341000	0.28922	0.524000	0.22940	1.985000	0.57927	0.416000	0.27883	AGA		PASS	0.383	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		9	63	9	63	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79402025	79402025	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:79402025A>T	ENST00000370742.3	-	7	895	c.832T>A	c.(832-834)Tac>Aac	p.Y278N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	278					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Y278N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATATTTATGTAGTCTCCATCC	0.264																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(832-834)TAC>AAC		EGF, latrophilin and seven transmembrane domain							87.0	91.0	90.0					1																	79402025		1788	4012	5800	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79402025A>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.832T>A	1.37:g.79402025A>T	ENSP00000359778:p.Tyr278Asn						p.Y278N	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	7	988	-			278			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.832T>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	4.217	0.039103	0.08148	.	.	ENSG00000162618	ENST00000370742	T	0.08984	3.03	5.86	3.47	0.39725	Domain of unknown function DUF3497 (1);	0.442315	0.27544	N	0.018889	T	0.02267	0.0070	L	0.43152	1.355	0.34734	D	0.730085	B	0.02656	0.0	B	0.09377	0.004	T	0.36089	-0.9762	9	.	.	.	.	5.7273	0.18020	0.6559:0.0:0.071:0.2731	.	278	Q9HBW9	ELTD1_HUMAN	N	278	ENSP00000359778:Y278N	.	Y	-	1	0	ELTD1	79174613	0.998000	0.40836	0.982000	0.44146	0.005000	0.04900	1.402000	0.34600	1.000000	0.39049	0.533000	0.62120	TAC		PASS	0.264	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		11	90	11	90	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86590959	86590959	+	Missense_Mutation	SNP	G	G	T	rs116613844	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:86590959G>T	ENST00000370571.2	-	3	1426	c.1060C>A	c.(1060-1062)Cat>Aat	p.H354N	COL24A1_ENST00000436319.1_Missense_Mutation_p.H354N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	354					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.H354N(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGATGCGATGAGTGGTCACT	0.408																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1060-1062)CAT>AAT		collagen, type XXIV, alpha 1 precursor							141.0	125.0	130.0					1																	86590959		1940	4138	6078	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590959G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1060C>A	1.37:g.86590959G>T	ENSP00000359603:p.His354Asn					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.H354N	p.H354N	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1102	-			354					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1060C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.144212	0.01728	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.17370	2.28;2.28	5.14	4.23	0.50019	.	1.013950	0.07935	N	0.978194	T	0.04363	0.0120	N	0.24115	0.695	0.09310	N	1	B;B	0.21905	0.062;0.01	B;B	0.24269	0.052;0.004	T	0.41945	-0.9480	10	0.13853	T	0.58	.	12.5874	0.56424	0.081:0.0:0.919:0.0	.	354;354	F8WDM8;Q17RW2	.;COOA1_HUMAN	N	354	ENSP00000359603:H354N;ENSP00000392531:H354N	ENSP00000359603:H354N	H	-	1	0	COL24A1	86363547	0.591000	0.26824	0.022000	0.16811	0.026000	0.11368	1.921000	0.40035	1.149000	0.42402	0.563000	0.77884	CAT		PASS	0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		9	67	9	67	---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89449001	89449001	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:89449001A>T	ENST00000321792.5	-	2	936	c.509T>A	c.(508-510)cTa>cAa	p.L170Q	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.L170Q	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	170					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L170Q(1)									GCTGCGAACTAGTCCTGAAGG	0.517																																						uc009wcx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)CTA>CAA		RNA binding motif protein, X-linked-like 1							158.0	162.0	160.0					1																	89449001		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89449001A>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.509T>A	1.37:g.89449001A>T	ENSP00000318415:p.Leu170Gln					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.L170Q	p.L170Q	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1225	-			170						Missense_Mutation	SNP	ENST00000321792.5	37	c.509T>A	CCDS716.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689019	0.48097	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.74421	-0.84;-0.84	1.59	0.295	0.15752	.	0.069143	0.64402	U	0.000016	T	0.19287	0.0463	N	0.02539	-0.55	0.25474	N	0.987796	B	0.06786	0.001	B	0.06405	0.002	T	0.37641	-0.9697	10	0.18276	T	0.48	-17.5049	5.9091	0.19018	0.2001:0.0:0.7999:0.0	.	170	Q96E39	RBMXL_HUMAN	Q	170	ENSP00000318415:L170Q;ENSP00000446099:L170Q	ENSP00000318415:L170Q	L	-	2	0	RBMXL1	89221589	1.000000	0.71417	0.917000	0.36280	0.864000	0.49448	3.074000	0.50065	-0.006000	0.14370	-0.760000	0.03462	CTA		PASS	0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		47	150	47	150	---	---	---	---
GBP6	163351	broad.mit.edu	37	1	89834177	89834177	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:89834177G>T	ENST00000370456.4	+	2	160	c.67G>T	c.(67-69)Gtg>Ttg	p.V23L	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	23	GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V23L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GCAGCTATTGGTGAACCAGCA	0.478																																						uc001dnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(67-69)GTG>TTG		guanylate binding protein family, member 6							140.0	132.0	135.0					1																	89834177		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89834177G>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.67G>T	1.37:g.89834177G>T	ENSP00000359485:p.Val23Leu					GBP6_uc010ost.1_Intron	p.V23L	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	2	341	+		Lung NSC(277;0.0908)	23					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.67G>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649086	0.47362	.	.	ENSG00000183347	ENST00000544311;ENST00000370456	T	0.73363	-0.74	4.46	3.47	0.39725	Guanylate-binding protein, N-terminal (1);	0.080431	0.48767	D	0.000165	T	0.56307	0.1976	L	0.55834	1.745	0.80722	D	1	B	0.32620	0.378	B	0.37550	0.253	T	0.64914	-0.6295	10	0.59425	D	0.04	-18.2808	5.4949	0.16797	0.1099:0.2066:0.6835:0.0	.	23	Q6ZN66	GBP6_HUMAN	L	23	ENSP00000359485:V23L	ENSP00000359485:V23L	V	+	1	0	GBP6	89606765	0.998000	0.40836	0.724000	0.30704	0.021000	0.10359	2.882000	0.48546	2.029000	0.59856	0.491000	0.48974	GTG		PASS	0.478	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		8	58	8	58	---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94668516	94668516	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:94668516C>A	ENST00000260526.6	-	10	1094	c.912G>T	c.(910-912)agG>agT	p.R304S	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.R304S	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	304					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.R304S(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTATTTCTTTCCTTTGTTTTT	0.308																																						uc001dqj.3																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(910-912)AGG>AGT		PTPL1-associated RhoGAP 1							103.0	114.0	110.0					1																	94668516		2202	4297	6499	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94668516C>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.912G>T	1.37:g.94668516C>A	ENSP00000260526:p.Arg304Ser					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.R304S	p.R304S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	10	1281	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	304			Potential.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.912G>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663529	0.67700	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.53206	0.63;0.63	6.1	2.21	0.28008	.	0.000000	0.43110	D	0.000614	T	0.61652	0.2364	M	0.89095	3.005	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.67554	-0.5641	10	0.87932	D	0	-20.7029	10.5104	0.44857	0.0:0.7426:0.0:0.2574	.	304;304	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	S	304	ENSP00000260526:R304S;ENSP00000359237:R304S	ENSP00000260526:R304S	R	-	3	2	ARHGAP29	94441104	0.973000	0.33851	1.000000	0.80357	0.993000	0.82548	0.140000	0.16056	0.167000	0.19631	-0.142000	0.14014	AGG		PASS	0.308	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		8	65	8	65	---	---	---	---
LRIF1	55791	broad.mit.edu	37	1	111494390	111494390	+	Silent	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:111494390T>A	ENST00000369763.4	-	2	1506	c.1116A>T	c.(1114-1116)acA>acT	p.T372T	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.T372T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GCAGAACATCTGTCCCCTTTT	0.408																																						uc001eaa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1114-1116)ACA>ACT		receptor-interacting factor 1 isoform 1							147.0	150.0	149.0					1																	111494390		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494390T>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1116A>T	1.37:g.111494390T>A						C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.T372T	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	1372	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	372					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1116A>T	CCDS30800.1																																																																																				PASS	0.408	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		23	145	23	145	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115399895	115399895	+	Splice_Site	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:115399895A>T	ENST00000369522.3	+	4	476	c.236A>T	c.(235-237)cAg>cTg	p.Q79L	SYCP1_ENST00000369518.1_Splice_Site_p.Q79L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	79	Asp/Glu-rich (acidic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.Q79L(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGCTTGAGCAGGTCAGTTAA	0.328																																						uc001efr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(235-237)CAG>CTG		synaptonemal complex protein 1							46.0	46.0	46.0					1																	115399895		2203	4296	6499	SO:0001630	splice_region_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115399895A>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.237+1A>T	1.37:g.115399895A>T						SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.Q79L|SYCP1_uc009wgw.2_Missense_Mutation_p.Q79L	p.Q79L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	445	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	79			Asp/Glu-rich (acidic).		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.236A>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830344	0.50845	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.54071	0.59;0.59;0.59	5.14	5.14	0.70334	.	0.202531	0.43260	D	0.000595	T	0.33614	0.0869	L	0.44542	1.39	0.80722	D	1	B;B	0.27286	0.174;0.174	B;B	0.32211	0.142;0.142	T	0.41893	-0.9483	10	0.72032	D	0.01	-1.1871	11.6475	0.51269	1.0:0.0:0.0:0.0	.	79;79	B7ZLS9;Q15431	.;SYCP1_HUMAN	L	79	ENSP00000358535:Q79L;ENSP00000410011:Q79L;ENSP00000358531:Q79L	ENSP00000358531:Q79L	Q	+	2	0	SYCP1	115201418	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.483000	0.60264	2.056000	0.61249	0.528000	0.53228	CAG		PASS	0.328	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	Missense_Mutation	6	21	6	21	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115537564	115537564	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:115537564G>C	ENST00000369522.3	+	32	3095	c.2855G>C	c.(2854-2856)cGg>cCg	p.R952P	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.R952P	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	952					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.R952Q(1)|p.R952P(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAAATGCGGGAGGACCGT	0.333																																						uc001efr.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2854-2856)CGG>CCG		synaptonemal complex protein 1							64.0	70.0	68.0					1																	115537564		2203	4299	6502	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115537564G>C	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2855G>C	1.37:g.115537564G>C	ENSP00000358535:p.Arg952Pro					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R952P|SYCP1_uc009wgw.2_Missense_Mutation_p.R927P	p.R952P	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	3064	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	952					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2855G>C	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	6.579	0.475164	0.12521	.	.	ENSG00000198765	ENST00000369522;ENST00000369518	T;T	0.50813	0.73;0.73	4.89	-4.82	0.03171	.	0.548707	0.17277	N	0.180141	T	0.19287	0.0463	L	0.53249	1.67	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.38308	-0.9667	10	0.87932	D	0	2.5077	10.3325	0.43831	0.253:0.125:0.6219:0.0	.	952;952	B7ZLS9;Q15431	.;SYCP1_HUMAN	P	952	ENSP00000358535:R952P;ENSP00000358531:R952P	ENSP00000358531:R952P	R	+	2	0	SYCP1	115339087	0.000000	0.05858	0.001000	0.08648	0.155000	0.21991	-0.042000	0.12063	-1.005000	0.03417	-0.391000	0.06502	CGG		PASS	0.333	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		15	32	15	32	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117150580	117150580	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:117150580G>T	ENST00000369486.3	-	5	1971	c.1206C>A	c.(1204-1206)atC>atA	p.I402I	IGSF3_ENST00000318837.6_Silent_p.I402I|IGSF3_ENST00000369483.1_Silent_p.I402I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	402	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.I402I(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAGGACTATGATGGGGATGT	0.502																																						uc001egr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1204-1206)ATC>ATA		immunoglobulin superfamily, member 3 isoform 2							101.0	110.0	107.0					1																	117150580		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150580G>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1206C>A	1.37:g.117150580G>T						IGSF3_uc001egq.1_Silent_p.I402I|IGSF3_uc001egs.1_Silent_p.I75I	p.I402I	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1911	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	402			Ig-like C2-type 4.|Extracellular (Potential).		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.1206C>A	CCDS30813.1																																																																																				PASS	0.502	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		4	66	4	66	---	---	---	---
PTGFRN	5738	broad.mit.edu	37	1	117527364	117527364	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:117527364G>T	ENST00000393203.2	+	8	2377	c.2230G>T	c.(2230-2232)Gtg>Ttg	p.V744L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	744	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V744L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAAGGCTCCTGTGCTCCTGTC	0.572																																						uc001egv.1																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(2230-2232)GTG>TTG		prostaglandin F2 receptor negative regulator							230.0	178.0	195.0					1																	117527364		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117527364G>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2230G>T	1.37:g.117527364G>T	ENSP00000376899:p.Val744Leu						p.V744L	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	8	2367	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	744			Ig-like C2-type 6.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2230G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622767	0.46840	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.54675	0.56	5.59	1.55	0.23275	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.485095	0.21505	N	0.073476	T	0.18257	0.0438	L	0.59436	1.845	0.25458	N	0.987942	B	0.24258	0.1	B	0.23419	0.046	T	0.38542	-0.9656	10	0.02654	T	1	-17.935	8.964	0.35865	0.3164:0.0:0.6836:0.0	.	744	Q9P2B2	FPRP_HUMAN	L	744;603	ENSP00000376899:V744L	ENSP00000376899:V744L	V	+	1	0	PTGFRN	117328887	0.384000	0.25164	0.708000	0.30435	0.992000	0.81027	0.540000	0.23191	0.293000	0.22520	0.561000	0.74099	GTG		PASS	0.572	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		15	31	15	31	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	118035780	118035780	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:118035780G>T	ENST00000356554.3	+	9	1915	c.1180G>T	c.(1180-1182)Gtc>Ttc	p.V394F		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	394					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.V394F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCATACATCTGTCGGTGGCCT	0.363																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)GTC>TTC		mannosidase, alpha, class 1A, member 2							103.0	98.0	99.0					1																	118035780		2203	4300	6503	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:118035780G>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1180G>T	1.37:g.118035780G>T	ENSP00000348959:p.Val394Phe					MAN1A2_uc009whg.1_Missense_Mutation_p.V184F	p.V394F	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	9	1901	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	394			Lumenal (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.1180G>T	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567739	0.45798	.	.	ENSG00000198162	ENST00000356554;ENST00000369450	T	0.73258	-0.73	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.33485	1.01	0.80722	D	1	B;B	0.31893	0.345;0.105	B;B	0.25759	0.063;0.061	T	0.51718	-0.8670	10	0.37606	T	0.19	-26.2349	16.3553	0.83233	0.0:0.0:1.0:0.0	.	158;394	A6NLR2;O60476	.;MA1A2_HUMAN	F	394;158	ENSP00000348959:V394F	ENSP00000348959:V394F	V	+	1	0	MAN1A2	117837303	1.000000	0.71417	0.999000	0.59377	0.201000	0.24016	5.241000	0.65384	2.456000	0.83038	0.655000	0.94253	GTC		PASS	0.363	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		11	23	11	23	---	---	---	---
NBPF15	284565	broad.mit.edu	37	1	148753320	148753320	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:148753320C>T	ENST00000417839.1	+	12	1527	c.1337C>T	c.(1336-1338)aCt>aTt	p.T446I		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		446	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.T446I(2)		breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					TGTTATTCGACTCCTTCAGAT	0.473																																						uc010pba.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1336-1338)ACT>ATT		hypothetical protein LOC728936							1.0	1.0	1.0					1																	148753320		548	611	1159	SO:0001583	missense	728936							g.chr1:148753320C>T																												ENST00000417839.1:c.1337C>T	1.37:g.148753320C>T	ENSP00000395369:p.Thr446Ile					NBPF16_uc009wkt.1_Missense_Mutation_p.T226I	p.T446I	NM_001102663	NP_001096133					12	1528	+	all_hematologic(923;0.032)							A8MPT6	Missense_Mutation	SNP	ENST00000417839.1	37	c.1337C>T	CCDS41384.1	.	.	.	.	.	.	.	.	.	.	c	7.852	0.724198	0.15439	.	.	ENSG00000203827	ENST00000417839;ENST00000254372	T	0.18338	2.22	0.109	0.109	0.14578	DUF1220 (2);	.	.	.	.	T	0.27063	0.0663	M	0.87547	2.89	0.09310	N	1	D;B	0.69078	0.997;0.427	D;B	0.79108	0.992;0.344	T	0.03000	-1.1084	8	0.72032	D	0.01	.	.	.	.	.	446;256	Q5SXJ2;B4DRP3	NBPFG_HUMAN;.	I	446	ENSP00000395369:T446I	ENSP00000254372:T446I	T	+	2	0	NBPF16	147019944	0.047000	0.20315	0.019000	0.16419	0.019000	0.09904	0.962000	0.29280	0.181000	0.19994	0.184000	0.17185	ACT		PASS	0.473	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1			3	44	3	44	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152275921	152275921	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:152275921C>T	ENST00000368799.1	-	3	11476	c.11441G>A	c.(11440-11442)cGt>cAt	p.R3814H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3814	Ser-rich.		R -> C (in dbSNP:rs2184953).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R3814H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTTCTCT	0.577									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11440-11442)CGT>CAT		filaggrin							377.0	368.0	371.0					1																	152275921		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275921C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11441G>A	1.37:g.152275921C>T	ENSP00000357789:p.Arg3814His						p.R3814H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11477	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3814			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11441G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.179	1.023218	0.19433	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.47	0.363	0.16118	.	.	.	.	.	T	0.01454	0.0047	L	0.31207	0.915	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.53027	-0.8496	9	0.35671	T	0.21	.	8.2839	0.31917	0.0:0.5204:0.4796:0.0	.	3814	P20930	FILA_HUMAN	H	3814	ENSP00000357789:R3814H	ENSP00000357789:R3814H	R	-	2	0	FLG	150542545	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.512000	0.00446	-0.036000	0.13669	-0.369000	0.07265	CGT		PASS	0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		50	355	50	355	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732892	152732892	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:152732892G>T	ENST00000606109.1	+	1	856	c.828G>T	c.(826-828)gaG>gaT	p.E276D	KPRP_ENST00000368773.1_Missense_Mutation_p.E276D			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	276	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E276D(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACGTTTTGAGCCCTGCTCCA	0.592																																						uc001fal.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(826-828)GAG>GAT		keratinocyte proline-rich protein							39.0	46.0	43.0					1																	152732892		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732892G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.828G>T	1.37:g.152732892G>T	ENSP00000475216:p.Glu276Asp						p.E276D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	886	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		276			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.828G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596410	0.28445	.	.	ENSG00000203786	ENST00000368773	T	0.12774	2.65	5.39	4.47	0.54385	.	0.648626	0.13638	N	0.373179	T	0.05777	0.0151	L	0.34521	1.04	0.09310	N	1	P	0.46512	0.879	B	0.42827	0.399	T	0.16988	-1.0384	10	0.87932	D	0	-0.3689	10.8483	0.46754	0.0895:0.0:0.9105:0.0	.	276	Q5T749	KPRP_HUMAN	D	276	ENSP00000357762:E276D	ENSP00000357762:E276D	E	+	3	2	KPRP	150999516	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	0.529000	0.23019	1.389000	0.46526	0.561000	0.74099	GAG		PASS	0.592	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		7	36	7	36	---	---	---	---
SNAPIN	23557	broad.mit.edu	37	1	153631258	153631258	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:153631258G>T	ENST00000368685.5	+	1	129	c.39G>T	c.(37-39)ggG>ggT	p.G13G	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	13					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)	p.G13G(1)		lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGGGGGCAGGGACCCCGGTGG	0.716																																						uc001fcq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)GGG>GGT		SNAP-associated protein							7.0	9.0	8.0					1																	153631258		1992	3959	5951	SO:0001819	synonymous_variant	23557				intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	g.chr1:153631258G>T	AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17145	protein-coding gene	gene with protein product	"""snapin"", ""SNAP-25-binding protein"", ""biogenesis of lysosomal organelles complex-1, subunit 7"""	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.39G>T	1.37:g.153631258G>T							p.G13G	NM_012437	NP_036569	O95295	SNAPN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	114	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		13					D3DV56|Q5SXU8	Silent	SNP	ENST00000368685.5	37	c.39G>T	CCDS1049.1																																																																																				PASS	0.716	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		3	6	3	6	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155735075	155735075	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:155735075G>A	ENST00000368331.1	-	21	4237	c.4189C>T	c.(4189-4191)Cct>Tct	p.P1397S	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.P1397S|GON4L_ENST00000271883.5_Missense_Mutation_p.P1397S|GON4L_ENST00000437809.1_Missense_Mutation_p.P1397S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1397					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P1397S(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTTCATCAGGGGGCTCTTGA	0.488																																						uc001flz.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(4189-4191)CCT>TCT		gon-4-like isoform a							86.0	81.0	83.0					1																	155735075		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735075G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4189C>T	1.37:g.155735075G>A	ENSP00000357315:p.Pro1397Ser					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.P1397S|GON4L_uc009wrh.1_Missense_Mutation_p.P1397S|GON4L_uc001fma.1_Missense_Mutation_p.P1397S|GON4L_uc001fmb.3_Missense_Mutation_p.P593S|GON4L_uc001fmc.2_Missense_Mutation_p.P1397S|GON4L_uc001fmd.3_Missense_Mutation_p.P1397S|GON4L_uc009wri.2_Missense_Mutation_p.P983S	p.P1397S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			21	4286	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1397					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4189C>T		.	.	.	.	.	.	.	.	.	.	G	10.71	1.426165	0.25726	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.11930	2.95;2.95;2.95;2.73	4.64	-0.915	0.10494	.	0.669254	0.13548	N	0.379685	T	0.02807	0.0084	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.15719	0.005;0.014;0.008;0.013	B;B;B;B	0.14578	0.003;0.004;0.005;0.011	T	0.43782	-0.9370	10	0.30854	T	0.27	.	6.6908	0.23169	0.0678:0.3497:0.4623:0.1202	.	1397;593;1397;1397	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	S	1397	ENSP00000396117:P1397S;ENSP00000357315:P1397S;ENSP00000271883:P1397S;ENSP00000354322:P1397S	ENSP00000271883:P1397S	P	-	1	0	GON4L	154001699	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	-1.088000	0.03379	-0.333000	0.08476	0.650000	0.86243	CCT		PASS	0.488	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		12	80	12	80	---	---	---	---
OR10K1	391109	broad.mit.edu	37	1	158436059	158436059	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:158436059G>T	ENST00000289451.2	+	1	788	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, 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.K236N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAAGATACAAGACCTTCTCCA	0.453																																						uc010pij.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)AAG>AAT		olfactory receptor, family 10, subfamily K,							156.0	134.0	142.0					1																	158436059		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436059G>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.708G>T	1.37:g.158436059G>T	ENSP00000289451:p.Lys236Asn						p.K236N	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	708	+	all_hematologic(112;0.0378)		236			Cytoplasmic (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.708G>T	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	13.74	2.325880	0.41197	.	.	ENSG00000173285	ENST00000289451	T	0.00374	7.72	4.24	-4.13	0.03904	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000729	T	0.00440	0.0014	M	0.91717	3.235	0.24542	N	0.994068	D	0.76494	0.999	D	0.69654	0.965	T	0.04065	-1.0980	10	0.87932	D	0	.	12.0951	0.53750	0.7682:0.0:0.2318:0.0	.	236	Q8NGX5	O10K1_HUMAN	N	236	ENSP00000289451:K236N	ENSP00000289451:K236N	K	+	3	2	OR10K1	156702683	0.287000	0.24315	0.307000	0.25127	0.472000	0.32918	-0.311000	0.08124	-0.781000	0.04548	0.557000	0.71058	AAG		PASS	0.453	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			10	50	10	50	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158648278	158648278	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:158648278A>G	ENST00000368147.4	-	6	905	c.725T>C	c.(724-726)gTg>gCg	p.V242A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	242					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V242A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCAGCATTCACCTCATTTTG	0.428																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(724-726)GTG>GCG		spectrin, alpha, erythrocytic 1							81.0	76.0	78.0					1																	158648278		1879	4108	5987	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648278A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.725T>C	1.37:g.158648278A>G	ENSP00000357129:p.Val242Ala						p.V242A	NM_003126	NP_003117	P02549	SPTA1_HUMAN			6	924	-	all_hematologic(112;0.0378)		242			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.725T>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496347	0.64186	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54866	0.55;0.55	4.66	4.66	0.58398	.	0.000000	0.29676	N	0.011481	T	0.67822	0.2934	M	0.84846	2.72	0.46874	D	0.999232	D	0.60160	0.987	D	0.68765	0.96	T	0.74659	-0.3591	10	0.87932	D	0	.	13.3542	0.60619	1.0:0.0:0.0:0.0	.	242	P02549	SPTA1_HUMAN	A	242	ENSP00000357130:V242A;ENSP00000357129:V242A	ENSP00000357129:V242A	V	-	2	0	SPTA1	156914902	1.000000	0.71417	0.819000	0.32651	0.251000	0.25915	8.035000	0.88872	2.080000	0.62538	0.528000	0.53228	GTG		PASS	0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	46	6	46	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158815668	158815668	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:158815668G>T	ENST00000368141.4	+	5	1123	c.862G>T	c.(862-864)Gac>Tac	p.D288Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	288	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D288Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATCTGTGTCTGACTTTAATCA	0.343																																						uc001fsz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(862-864)GAC>TAC		myeloid cell nuclear differentiation antigen							67.0	70.0	69.0					1																	158815668		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815668G>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.862G>T	1.37:g.158815668G>T	ENSP00000357123:p.Asp288Tyr						p.D288Y	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	1062	+	all_hematologic(112;0.0378)		288			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.862G>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589590	0.46214	.	.	ENSG00000163563	ENST00000368141	T	0.17370	2.28	4.28	2.38	0.29361	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.381500	0.19064	N	0.123684	T	0.08133	0.0203	L	0.43152	1.355	0.09310	N	1	D	0.56287	0.975	P	0.48334	0.574	T	0.09552	-1.0669	10	0.87932	D	0	-12.4386	6.8181	0.23843	0.2155:0.0:0.7845:0.0	.	288	P41218	MNDA_HUMAN	Y	288	ENSP00000357123:D288Y	ENSP00000357123:D288Y	D	+	1	0	MNDA	157082292	0.001000	0.12720	0.004000	0.12327	0.287000	0.27160	0.218000	0.17622	0.534000	0.28695	0.655000	0.94253	GAC		PASS	0.343	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		11	72	11	72	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165322360	165322360	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:165322360G>A	ENST00000342310.3	-	3	598	c.216C>T	c.(214-216)acC>acT	p.T72T	LMX1A_ENST00000294816.2_Silent_p.T72T|LMX1A_ENST00000367893.4_Silent_p.T72T	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	72	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.T72T(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGTAGAAGCAGGTGGTCTCCA	0.607																																						uc001gcy.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(214-216)ACC>ACT		LIM homeobox transcription factor 1, alpha							90.0	90.0	90.0					1																	165322360		2203	4300	6503	SO:0001819	synonymous_variant	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165322360G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.216C>T	1.37:g.165322360G>A						LMX1A_uc001gcz.1_Silent_p.T72T	p.T72T	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			2	437	-	all_hematologic(923;0.248)		72			LIM zinc-binding 1.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	c.216C>T	CCDS1247.1																																																																																				PASS	0.607	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		20	39	20	39	---	---	---	---
LRRC52	440699	broad.mit.edu	37	1	165513549	165513549	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:165513549G>T	ENST00000294818.1	+	1	306	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	6					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G6C(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTTGCTTCAGGCCCTGGCCC	0.557																																						uc001gde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)GGC>TGC		leucine rich repeat containing 52 precursor							114.0	107.0	109.0					1																	165513549		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165513549G>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.16G>T	1.37:g.165513549G>T	ENSP00000294818:p.Gly6Cys					LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.G6C	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			1	72	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		6					A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.16G>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650670	0.47362	.	.	ENSG00000162763	ENST00000294818	T	0.68025	-0.3	4.26	2.41	0.29592	.	0.860365	0.10639	N	0.651247	T	0.41834	0.1176	L	0.29908	0.895	0.30721	N	0.7482690000000001	D	0.55800	0.973	P	0.46975	0.533	T	0.20706	-1.0267	9	0.72032	D	0.01	.	6.9859	0.24727	0.2037:0.0:0.7963:0.0	.	6	Q8N7C0	LRC52_HUMAN	C	6	ENSP00000294818:G6C	ENSP00000294818:G6C	G	+	1	0	LRRC52	163780173	0.998000	0.40836	0.999000	0.59377	0.982000	0.71751	1.117000	0.31234	0.773000	0.33404	-0.230000	0.12252	GGC		PASS	0.557	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		11	74	11	74	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097464	167097464	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:167097464C>A	ENST00000361200.2	+	6	3262	c.3096C>A	c.(3094-3096)tcC>tcA	p.S1032S	DUSP27_ENST00000271385.5_Silent_p.S1032S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.S1032S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1032	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S1032S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCAAGTTCCCGAGAGGAGA	0.572																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3094-3096)TCC>TCA		dual specificity phosphatase 27							40.0	44.0	42.0					1																	167097464		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097464C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3096C>A	1.37:g.167097464C>A							p.S1032S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3096	+			1032			Ser-rich.		A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.3096C>A	CCDS30932.1																																																																																				PASS	0.572	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		11	31	11	31	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173569255	173569255	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:173569255C>A	ENST00000367714.3	-	3	651		c.e3+1		RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)						sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.?(1)									ACATACAGTACCTCAACAGAA	0.353																																						uc001giz.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e3+1		solute carrier family 9, member 11							74.0	69.0	71.0					1																	173569255		2203	4300	6503	SO:0001630	splice_region_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173569255C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.228+1G>T	1.37:g.173569255C>A						SLC9A11_uc010pmq.1_Intron	p.E76_splice	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			3	651	-								Q86UF3	Splice_Site	SNP	ENST00000367714.3	37	c.228_splice	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694931	0.48202	.	.	ENSG00000162753	ENST00000367714	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1055	0.72319	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A11	171835878	1.000000	0.71417	0.998000	0.56505	0.522000	0.34438	3.085000	0.50151	2.851000	0.98039	0.596000	0.82720	.		PASS	0.353	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	Intron	7	29	7	29	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176838113	176838113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:176838113C>A	ENST00000367654.3	-	22	3749	c.3538G>T	c.(3538-3540)Gag>Tag	p.E1180*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E1172*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E1172*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E1172*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1180					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E1172*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTGCTGCTCCTTCCCACTA	0.438																																						uc001glc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3514-3516)GAG>TAG		astrotactin isoform 1							144.0	130.0	135.0					1																	176838113		2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838113C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3538G>T	1.37:g.176838113C>A	ENSP00000356626:p.Glu1180*					ASTN1_uc001glb.1_Nonsense_Mutation_p.E1172*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E1172*	p.E1172*	NM_004319	NP_004310	O14525	ASTN1_HUMAN			22	3726	-			1180					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.3514G>T		.	.	.	.	.	.	.	.	.	.	C	40	8.444929	0.98815	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.8833	19.4429	0.94831	0.0:1.0:0.0:0.0	.	.	.	.	X	1172;1172;1180;1172;1172	.	ENSP00000354536:E1172X	E	-	1	0	ASTN1	175104736	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.679000	0.84048	2.698000	0.92095	0.655000	0.94253	GAG		PASS	0.438	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	41	6	41	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177249890	177249890	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:177249890G>T	ENST00000361539.4	+	8	1890	c.1578G>T	c.(1576-1578)gaG>gaT	p.E526D	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	526					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)	extracellular region (GO:0005576)		p.E526D(1)									GCCGCATTGAGGTACACTCCA	0.547																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1576-1578)GAG>GAT		family with sequence similarity 5, member B							44.0	39.0	41.0					1																	177249890		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249890G>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1578G>T	1.37:g.177249890G>T	ENSP00000354481:p.Glu526Asp					FAM5B_uc001glg.2_Missense_Mutation_p.E421D	p.E526D	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1890	+			526					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1578G>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498601	0.44455	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.42131	0.98	5.36	3.46	0.39613	.	0.104181	0.64402	D	0.000004	T	0.60327	0.2260	M	0.74881	2.28	0.52099	D	0.999949	D;D	0.76494	0.999;0.993	D;D	0.81914	0.995;0.967	T	0.61549	-0.7040	10	0.49607	T	0.09	-21.7833	10.1955	0.43051	0.2202:0.0:0.7798:0.0	.	421;526	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	D	279;526	ENSP00000354481:E526D	ENSP00000354481:E526D	E	+	3	2	FAM5B	175516513	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.135000	0.42112	1.258000	0.44101	0.313000	0.20887	GAG		PASS	0.547	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		4	18	4	18	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250164	177250164	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:177250164G>C	ENST00000361539.4	+	8	2164	c.1852G>C	c.(1852-1854)Gtg>Ctg	p.V618L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	618					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)	extracellular region (GO:0005576)		p.V618L(1)									AAGGACTAACGTGGATGCAGC	0.517																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1852-1854)GTG>CTG		family with sequence similarity 5, member B							74.0	71.0	72.0					1																	177250164		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250164G>C		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1852G>C	1.37:g.177250164G>C	ENSP00000354481:p.Val618Leu					FAM5B_uc001glg.2_Missense_Mutation_p.V513L	p.V618L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2164	+			618					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1852G>C	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	3.210	-0.161908	0.06502	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.11821	2.74	5.25	5.25	0.73442	.	0.157198	0.45126	D	0.000395	T	0.03827	0.0108	N	0.00729	-1.24	0.49915	D	0.99983	B;B	0.12630	0.006;0.001	B;B	0.17098	0.017;0.002	T	0.33189	-0.9878	10	0.02654	T	1	-18.4293	14.105	0.65083	0.0:0.1507:0.8493:0.0	.	513;618	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	L	371;618	ENSP00000354481:V618L	ENSP00000354481:V618L	V	+	1	0	FAM5B	175516787	0.996000	0.38824	0.990000	0.47175	0.974000	0.67602	2.688000	0.46984	2.443000	0.82685	0.313000	0.20887	GTG		PASS	0.517	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	19	5	19	---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180366651	180366651	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:180366651C>A	ENST00000367595.3	-	6	1350	c.663G>T	c.(661-663)caG>caT	p.Q221H	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	221						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.Q221H(1)	ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						TCACTCTTACCTGACAGTTAA	0.363																																						uc001gog.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)CAG>CAT		acyl-coenzyme A binding domain containing 6							149.0	155.0	153.0					1																	180366651		2203	4300	6503	SO:0001630	splice_region_variant	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180366651C>A	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.663+1G>T	1.37:g.180366651C>A							p.Q221H	NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN			6	1284	-			221						Missense_Mutation	SNP	ENST00000367595.3	37	c.663G>T	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379428	0.82682	.	.	ENSG00000135847	ENST00000367595	T	0.65732	-0.17	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.052402	0.85682	D	0.000000	T	0.76154	0.3948	M	0.64567	1.98	0.80722	D	1	D	0.67145	0.996	D	0.66979	0.948	T	0.74659	-0.3591	9	.	.	.	-8.7568	17.5335	0.87820	0.0:1.0:0.0:0.0	.	221	Q9BR61	ACBD6_HUMAN	H	221	ENSP00000356567:Q221H	.	Q	-	3	2	ACBD6	178633274	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.743000	0.74848	2.686000	0.91538	0.467000	0.42956	CAG		PASS	0.363	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	Missense_Mutation	17	137	17	137	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181727124	181727124	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:181727124C>A	ENST00000367573.2	+	31	4371	c.4371C>A	c.(4369-4371)acC>acA	p.T1457T	CACNA1E_ENST00000367570.1_Silent_p.T1457T|CACNA1E_ENST00000357570.5_Silent_p.T1408T|CACNA1E_ENST00000526775.1_Silent_p.T1438T|CACNA1E_ENST00000360108.3_Silent_p.T1438T|CACNA1E_ENST00000358338.5_Silent_p.T1389T|CACNA1E_ENST00000367567.4_Silent_p.T1064T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1457					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.T1457T(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACCTCTCACCCGCTACATGC	0.522																																						uc001gow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4369-4371)ACC>ACA		calcium channel, voltage-dependent, R type,							146.0	151.0	149.0					1																	181727124		2138	4236	6374	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727124C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4371C>A	1.37:g.181727124C>A						CACNA1E_uc009wxs.2_Silent_p.T1345T|CACNA1E_uc001gox.1_Silent_p.T683T|CACNA1E_uc009wxt.2_Silent_p.T683T	p.T1457T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			31	4536	+			1457			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4371C>A	CCDS55664.1																																																																																				PASS	0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	57	6	57	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186076015	186076015	+	Splice_Site	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:186076015G>A	ENST00000271588.4	+	70	10999		c.e70-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGTTTTGTAGGTGGAGGATA	0.333																																						uc001grq.1																			1	Unknown(1)		lung(1)	ovary(22)|skin(1)	23						c.e70-1		hemicentin 1 precursor							176.0	175.0	175.0					1																	186076015		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186076015G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10771-1G>A	1.37:g.186076015G>A							p.V3591_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			70	11000	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.10771_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644692	0.87859	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8346	0.92157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184342638	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	8.911000	0.92721	2.525000	0.85131	0.484000	0.47621	.		PASS	0.333	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	12	70	12	70	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186329965	186329965	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:186329965T>A	ENST00000367478.4	-	10	1327	c.1031A>T	c.(1030-1032)gAg>gTg	p.E344V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	344					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E344V(1)|p.E345V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCCTATTTTCTCAAGCATTTC	0.348			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(1030-1032)GAG>GTG		nuclear pore complex-associated protein TPR							149.0	135.0	140.0					1																	186329965		1847	4081	5928	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329965T>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1031A>T	1.37:g.186329965T>A	ENSP00000356448:p.Glu344Val					TPR_uc010pop.1_Missense_Mutation_p.E420V	p.E344V	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	10	1328	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	344			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1031A>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699564	0.88830	.	.	ENSG00000047410	ENST00000367478	T	0.30981	1.51	5.59	5.59	0.84812	.	0.046872	0.85682	D	0.000000	T	0.52322	0.1727	M	0.71581	2.175	0.54753	D	0.999989	D;D	0.76494	0.982;0.999	P;D	0.63488	0.793;0.915	T	0.52555	-0.8560	10	0.45353	T	0.12	.	14.9522	0.71083	0.0:0.0:0.0:1.0	.	344;344	Q15624;P12270	.;TPR_HUMAN	V	344	ENSP00000356448:E344V	ENSP00000356448:E344V	E	-	2	0	TPR	184596588	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.552000	0.67281	2.123000	0.65237	0.533000	0.62120	GAG		PASS	0.348	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		7	35	7	35	---	---	---	---
B3GALT2	8707	broad.mit.edu	37	1	193149618	193149618	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:193149618G>C	ENST00000367434.4	-	2	1830	c.1075C>G	c.(1075-1077)Ccc>Gcc	p.P359A	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	359					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.P359A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AACTCATTGGGAGGGGGTACA	0.413																																						uc001gtc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)CCC>GCC		UDP-Gal:betaGlcNAc beta							86.0	88.0	87.0					1																	193149618		2203	4300	6503	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193149618G>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1075C>G	1.37:g.193149618G>C	ENSP00000356404:p.Pro359Ala					CDC73_uc001gtb.2_Intron	p.P359A	NM_003783	NP_003774	O43825	B3GT2_HUMAN			2	1790	-			359			Lumenal (Potential).		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.1075C>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356084	0.41700	.	.	ENSG00000162630	ENST00000367434	D	0.88509	-2.39	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	L	0.50993	1.605	0.80722	D	1	P	0.34724	0.465	B	0.37480	0.251	D	0.85453	0.1162	10	0.29301	T	0.29	.	18.9204	0.92523	0.0:0.0:1.0:0.0	.	359	O43825	B3GT2_HUMAN	A	359	ENSP00000356404:P359A	ENSP00000356404:P359A	P	-	1	0	B3GALT2	191416241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.530000	0.73816	2.459000	0.83118	0.555000	0.69702	CCC		PASS	0.413	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		6	41	6	41	---	---	---	---
LMOD1	25802	broad.mit.edu	37	1	201915297	201915297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:201915297G>A	ENST00000367288.4	-	1	418	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	58					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.Q58*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCGTGGACTGTTTCTCCGTC	0.572																																						uc001gxb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(172-174)CAG>TAG		leiomodin 1 (smooth muscle)							101.0	107.0	105.0					1																	201915297		2010	4179	6189	SO:0001587	stop_gained	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201915297G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.172C>T	1.37:g.201915297G>A	ENSP00000356257:p.Gln58*					LMOD1_uc010ppu.1_Nonsense_Mutation_p.Q58*	p.Q58*	NM_012134	NP_036266	P29536	LMOD1_HUMAN			1	420	-			58					B1APV6|C4AMB1|Q68EN2	Nonsense_Mutation	SNP	ENST00000367288.4	37	c.172C>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	39	7.627859	0.98399	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	.	.	.	5.93	5.02	0.67125	.	0.665201	0.12378	N	0.474129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-11.7592	8.9131	0.35565	0.079:0.1483:0.7728:0.0	.	.	.	.	X	58	.	ENSP00000356257:Q58X	Q	-	1	0	LMOD1	200181920	0.000000	0.05858	0.218000	0.23776	0.990000	0.78478	0.195000	0.17155	1.510000	0.48803	0.561000	0.74099	CAG		PASS	0.572	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			13	48	13	48	---	---	---	---
OPTC	26254	broad.mit.edu	37	1	203472827	203472827	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:203472827C>A	ENST00000367222.2	+	7	1094	c.978C>A	c.(976-978)ctC>ctA	p.L326L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	326					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.L326L(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCTCGGCTCCCCATCGGCC	0.617																																						uc001gzu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(976-978)CTC>CTA		opticin precursor							70.0	67.0	68.0					1																	203472827		2203	4298	6501	SO:0001819	synonymous_variant	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472827C>A	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.978C>A	1.37:g.203472827C>A							p.L326L	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	1094	+			326					Q5T2G4	Silent	SNP	ENST00000367222.2	37	c.978C>A	CCDS1439.1																																																																																				PASS	0.617	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		6	21	6	21	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205039104	205039104	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:205039104G>T	ENST00000331830.4	+	18	2630	c.2346G>T	c.(2344-2346)acG>acT	p.T782T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	782	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.T782T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCCCTACACGCCCTTTGAGG	0.662																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2344-2346)ACG>ACT		contactin 2 precursor							49.0	54.0	52.0					1																	205039104		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039104G>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2346G>T	1.37:g.205039104G>T						CNTN2_uc001hbq.1_Silent_p.T673T|CNTN2_uc001hbs.2_Silent_p.T570T	p.T782T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2615	+	all_cancers(21;0.144)|Breast(84;0.0437)		782			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2346G>T	CCDS1449.1																																																																																				PASS	0.662	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		8	42	8	42	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207741317	207741317	+	Silent	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:207741317C>G	ENST00000367049.4	+	25	4101	c.4101C>G	c.(4099-4101)acC>acG	p.T1367T	CR1_ENST00000367053.1_Silent_p.T917T|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.T917T|CR1_ENST00000367051.1_Silent_p.T917T|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	917	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.T1367T(1)|p.T922T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGAGAGCACCATCCGCTGCA	0.537																																						uc001hfy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2749-2751)ACC>ACG		complement receptor 1 isoform F precursor							89.0	107.0	102.0					1																	207741317		1817	4086	5903	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741317C>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4101C>G	1.37:g.207741317C>G						CR1_uc009xcl.1_Silent_p.T467T|CR1_uc001hfx.2_Silent_p.T1367T|CR1_uc009xck.1_Silent_p.T467T	p.T917T	NM_000573	NP_000564	P17927	CR1_HUMAN			17	2891	+			917			Extracellular (Potential).|Sushi 14.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.2751C>G	CCDS44308.1																																																																																				PASS	0.537	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		13	73	13	73	---	---	---	---
HSD11B1	3290	broad.mit.edu	37	1	209880159	209880159	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:209880159C>T	ENST00000367028.2	+	4	494	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	HSD11B1_ENST00000261465.1_Missense_Mutation_p.L109F|HSD11B1_ENST00000367027.3_Missense_Mutation_p.L109F|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	109					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)	p.L109F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AGCAGGAAAGCTCATGGGTGA	0.527																																						uc001hhj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(325-327)CTC>TTC		11-beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)						161.0	145.0	151.0					1																	209880159		2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding	g.chr1:209880159C>T	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.325C>T	1.37:g.209880159C>T	ENSP00000355995:p.Leu109Phe					HSD11B1_uc001hhk.2_Missense_Mutation_p.L109F	p.L109F	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	4	432	+			109			Lumenal (Potential).		B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.325C>T	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228850	0.39399	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.87571	-2.27;-2.27;-2.27	5.16	4.24	0.50183	NAD(P)-binding domain (1);	0.415062	0.26738	N	0.022753	T	0.80889	0.4710	L	0.35341	1.055	0.43214	D	0.995081	P	0.50066	0.931	P	0.48270	0.572	T	0.75912	-0.3150	10	0.10111	T	0.7	.	8.3806	0.32468	0.2793:0.6456:0.0:0.0752	.	109	P28845	DHI1_HUMAN	F	109	ENSP00000355995:L109F;ENSP00000261465:L109F;ENSP00000355994:L109F	ENSP00000261465:L109F	L	+	1	0	HSD11B1	207946782	0.083000	0.21467	0.937000	0.37676	0.849000	0.48306	0.286000	0.18902	1.471000	0.48121	0.563000	0.77884	CTC		PASS	0.527	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		16	87	16	87	---	---	---	---
TRAF3IP3	80342	broad.mit.edu	37	1	209948944	209948944	+	Splice_Site	SNP	C	C	A	rs113331659		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:209948944C>A	ENST00000367024.1	+	11	1432	c.916C>A	c.(916-918)Cga>Aga	p.R306R	TRAF3IP3_ENST00000367025.3_Splice_Site_p.R306R|TRAF3IP3_ENST00000477431.1_Splice_Site_p.R42R|TRAF3IP3_ENST00000400959.3_Splice_Site_p.R286R|TRAF3IP3_ENST00000367023.1_Splice_Site_p.R42R|TRAF3IP3_ENST00000010338.4_Splice_Site_p.R286R|TRAF3IP3_ENST00000367026.3_Splice_Site_p.R286R			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	306						integral component of membrane (GO:0016021)		p.R286R(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCTCCCTCAGCGATCCCTGGC	0.617																																						uc001hho.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(916-918)CGA>AGA		TRAF3-interacting JNK-activating modulator							64.0	69.0	67.0					1																	209948944		2203	4300	6503	SO:0001630	splice_region_variant	80342					integral to membrane	protein binding	g.chr1:209948944C>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.916-1C>A	1.37:g.209948944C>A						TRAF3IP3_uc001hhl.2_Silent_p.R286R|TRAF3IP3_uc001hhm.1_Silent_p.R306R|TRAF3IP3_uc001hhn.2_Silent_p.R286R|TRAF3IP3_uc009xcr.2_Silent_p.R306R	p.R306R	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	11	1206	+			306			Cytoplasmic (Potential).|Potential.		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.916C>A	CCDS1490.2																																																																																				PASS	0.617	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		Silent	8	39	8	39	---	---	---	---
ATF3	467	broad.mit.edu	37	1	212788546	212788546	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:212788546G>A	ENST00000341491.4	+	2	448	c.183G>A	c.(181-183)gcG>gcA	p.A61A	ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366985.1_Silent_p.A4A|ATF3_ENST00000366987.2_Silent_p.A61A|ATF3_ENST00000336937.4_Silent_p.A32A|ATF3_ENST00000366983.1_Silent_p.A61A|RN7SL512P_ENST00000578962.1_RNA	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	61					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A61A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	TGTCCTCTGCGCTGGAATCAG	0.527																																						uc001hjf.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(181-183)GCG>GCA		activating transcription factor 3 isoform 1							72.0	68.0	69.0					1																	212788546		2203	4300	6503	SO:0001819	synonymous_variant	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212788546G>A	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.183G>A	1.37:g.212788546G>A						ATF3_uc001hjj.2_Silent_p.A61A|ATF3_uc009xdg.1_Intron|ATF3_uc001hjh.2_Silent_p.A61A|ATF3_uc001hji.2_Silent_p.A61A|ATF3_uc010ptg.1_RNA	p.A61A	NM_001030287	NP_001025458	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	2	316	+			61					Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Silent	SNP	ENST00000341491.4	37	c.183G>A	CCDS1506.1																																																																																				PASS	0.527	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		6	26	6	26	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170585	214170585	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:214170585G>T	ENST00000366958.4	+	2	1315	c.707G>T	c.(706-708)cGc>cTc	p.R236L	PROX1_ENST00000498508.2_Missense_Mutation_p.R236L|PROX1_ENST00000261454.4_Missense_Mutation_p.R236L|PROX1_ENST00000435016.1_Missense_Mutation_p.R236L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	236					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R236L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGAGAGGAGCGCCGACAGCTG	0.498																																						uc001hkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(706-708)CGC>CTC		prospero homeobox 1							38.0	41.0	40.0					1																	214170585		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170585G>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.707G>T	1.37:g.214170585G>T	ENSP00000355925:p.Arg236Leu					PROX1_uc001hkg.1_Missense_Mutation_p.R236L	p.R236L	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	979	+			236					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.707G>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010434	0.75046	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.39860	0.1094	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	P	0.60068	0.868	T	0.00915	-1.1516	10	0.38643	T	0.18	-3.9671	19.9472	0.97186	0.0:0.0:1.0:0.0	.	236	Q92786	PROX1_HUMAN	L	236	ENSP00000420283:R236L;ENSP00000355925:R236L;ENSP00000400694:R236L;ENSP00000261454:R236L	ENSP00000261454:R236L	R	+	2	0	PROX1	212237208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGC		PASS	0.498	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		4	27	4	27	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215844535	215844535	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:215844535G>T	ENST00000307340.3	-	64	14298	c.13912C>A	c.(13912-13914)Cca>Aca	p.P4638T	USH2A_ENST00000366943.2_Missense_Mutation_p.P4638T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4638	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P4638T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCAGATGTGGAGGGGGTTGC	0.483										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13912-13914)CCA>ACA		usherin isoform B							108.0	107.0	107.0					1																	215844535		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844535G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13912C>A	1.37:g.215844535G>T	ENSP00000305941:p.Pro4638Thr	HNSCC(13;0.011)					p.P4638T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14299	-			4638			Fibronectin type-III 32.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13912C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458220	0.43634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.21	4.3	0.51218	Fibronectin, type III (2);	0.000000	0.41194	U	0.000933	T	0.64549	0.2608	M	0.80616	2.505	0.58432	D	0.999997	D	0.64830	0.994	P	0.57720	0.826	T	0.68002	-0.5524	10	0.42905	T	0.14	.	14.1071	0.65099	0.0727:0.0:0.9273:0.0	.	4638	O75445	USH2A_HUMAN	T	4638	ENSP00000305941:P4638T;ENSP00000355910:P4638T	ENSP00000305941:P4638T	P	-	1	0	USH2A	213911158	1.000000	0.71417	0.034000	0.17996	0.003000	0.03518	9.319000	0.96338	1.325000	0.45301	-0.145000	0.13849	CCA		PASS	0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	59	11	59	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216462640	216462640	+	Silent	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:216462640A>T	ENST00000307340.3	-	11	2339	c.1953T>A	c.(1951-1953)ggT>ggA	p.G651G	USH2A_ENST00000366943.2_Silent_p.G651G|USH2A_ENST00000366942.3_Silent_p.G651G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	651	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G651G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAGAATGCTACCATTTCTAG	0.403										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1951-1953)GGT>GGA		usherin isoform B							150.0	133.0	138.0					1																	216462640		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216462640A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1953T>A	1.37:g.216462640A>T		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.G651G	p.G651G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	11	2340	-			651			Extracellular (Potential).|Laminin EGF-like 3.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.1953T>A	CCDS31025.1																																																																																				PASS	0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	52	12	52	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216741400	216741400	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:216741400G>T	ENST00000408911.3	-	4	783	c.630C>A	c.(628-630)taC>taA	p.Y210*	ESRRG_ENST00000493748.1_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.Y215*|ESRRG_ENST00000391890.3_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.Y148*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.Y187*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.Y187*	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	210					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Y210*(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCTGCGCTTGTACTTCTGCC	0.512																																						uc001hkw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(628-630)TAC>TAA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						175.0	147.0	157.0					1																	216741400		2203	4300	6503	SO:0001587	stop_gained	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216741400G>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.630C>A	1.37:g.216741400G>T	ENSP00000386171:p.Tyr210*					ESRRG_uc001hky.1_Nonsense_Mutation_p.Y187*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.Y148*|ESRRG_uc010puc.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hla.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.Y187*|ESRRG_uc010pud.1_Nonsense_Mutation_p.Y18*|ESRRG_uc001hlc.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hld.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.Y215*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hle.1_Nonsense_Mutation_p.Y187*	p.Y210*	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	4	796	-			210					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	ENST00000408911.3	37	c.630C>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	41	9.054883	0.99050	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	.	.	.	5.5	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	13.3143	0.60399	0.0807:0.0:0.9193:0.0	.	.	.	.	X	187;187;215;210;187;187;187;187;187;187;148;187;187;187;187	.	ENSP00000346386:Y187X	Y	-	3	2	ESRRG	214808023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.761000	0.68801	1.225000	0.43566	-0.355000	0.07637	TAC		PASS	0.512	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		7	51	7	51	---	---	---	---
SPATA17	128153	broad.mit.edu	37	1	217842374	217842374	+	Splice_Site	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:217842374G>C	ENST00000366933.4	+	4	295		c.e4-1			NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17							cytoplasm (GO:0005737)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTGATTCACAGGTAGCATATT	0.313																																						uc001hlh.1																			1	Unknown(1)		lung(1)	pancreas(1)	1						c.e4-1		spermatogenesis associated 17							137.0	139.0	138.0					1																	217842374		2203	4297	6500	SO:0001630	splice_region_variant	128153					cytoplasm	calmodulin binding	g.chr1:217842374G>C	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.241-1G>C	1.37:g.217842374G>C						SPATA17_uc009xdr.1_Splice_Site|SPATA17_uc001hli.2_Splice_Site_p.V81_splice	p.V81_splice	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	4	267	+								A5D6N2	Splice_Site	SNP	ENST00000366933.4	37	c.241_splice	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385741	0.61956	.	.	ENSG00000162814	ENST00000366933	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPATA17	215908997	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.096000	0.94182	2.793000	0.96121	0.655000	0.94253	.		PASS	0.313	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	Intron	15	79	15	79	---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221912285	221912285	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:221912285C>A	ENST00000366899.3	-	2	1040	c.802G>T	c.(802-804)Gtg>Ttg	p.V268L	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	268	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V268L(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCTTTCAACACCAGAGGTTCT	0.507																																						uc001hmy.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(802-804)GTG>TTG		dual specificity phosphatase 10 isoform a							156.0	162.0	160.0					1																	221912285		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221912285C>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.802G>T	1.37:g.221912285C>A	ENSP00000355866:p.Val268Leu					DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.V268L	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	984	-			268			Rhodanese.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.802G>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241621	0.22711	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.25749	1.78	5.86	4.95	0.65309	Rhodanese-like (5);	0.124578	0.56097	D	0.000039	T	0.15955	0.0384	N	0.16862	0.45	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.05971	-1.0853	10	0.11485	T	0.65	.	14.7233	0.69323	0.0:0.931:0.0:0.069	.	268	Q9Y6W6	DUS10_HUMAN	L	268;213	ENSP00000355866:V268L	ENSP00000355866:V268L	V	-	1	0	DUSP10	219978908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.217000	0.51184	1.489000	0.48450	0.655000	0.94253	GTG		PASS	0.507	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		7	67	7	67	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222700356	222700356	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:222700356G>T	ENST00000343410.6	-	7	1818	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	HHIPL2_ENST00000473144.1_5'Flank	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	587					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.A587D(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGTGCATAGGCACTTGGGTA	0.433																																						uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1759-1761)GCC>GAC		HHIP-like 2 precursor							94.0	79.0	84.0					1																	222700356		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222700356G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1760C>A	1.37:g.222700356G>T	ENSP00000342118:p.Ala587Asp						p.A587D	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	7	1818	-			587					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1760C>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842606	0.71488	.	.	ENSG00000143512	ENST00000343410	T	0.16073	2.37	5.05	5.05	0.67936	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.77820	2.39	0.80722	D	1	D	0.60575	0.988	D	0.67548	0.952	T	0.43261	-0.9402	10	0.56958	D	0.05	-23.3279	18.0043	0.89205	0.0:0.0:1.0:0.0	.	587	Q6UWX4	HIPL2_HUMAN	D	587	ENSP00000342118:A587D	ENSP00000342118:A587D	A	-	2	0	HHIPL2	220766979	1.000000	0.71417	0.943000	0.38184	0.449000	0.32228	8.607000	0.90891	2.309000	0.77851	0.655000	0.94253	GCC		PASS	0.433	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		4	14	4	14	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222715457	222715457	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:222715457C>A	ENST00000343410.6	-	3	1073	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	339					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.G339C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGTTGTCCGCCATTATGGTTT	0.473																																						uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)GGC>TGC		HHIP-like 2 precursor							73.0	67.0	69.0					1																	222715457		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222715457C>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1015G>T	1.37:g.222715457C>A	ENSP00000342118:p.Gly339Cys						p.G339C	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	3	1073	-			339					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1015G>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947506	0.73672	.	.	ENSG00000143512	ENST00000343410	T	0.31247	1.5	5.59	5.59	0.84812	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.097531	0.64402	D	0.000002	T	0.72867	0.3514	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83742	0.0204	10	0.87932	D	0	-8.8777	19.231	0.93841	0.0:1.0:0.0:0.0	.	339	Q6UWX4	HIPL2_HUMAN	C	339	ENSP00000342118:G339C	ENSP00000342118:G339C	G	-	1	0	HHIPL2	220782080	1.000000	0.71417	0.996000	0.52242	0.376000	0.30014	7.363000	0.79516	2.619000	0.88677	0.585000	0.79938	GGC		PASS	0.473	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		5	33	5	33	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223178402	223178402	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:223178402C>T	ENST00000284476.6	+	8	3827	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1221					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.N1221N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AATTTTTCAACAGCCAAGCAA	0.478																																						uc001hnu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3661-3663)AAC>AAT		dispatched A							63.0	67.0	66.0					1																	223178402		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178402C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3663C>T	1.37:g.223178402C>T							p.N1221N	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3810	+			1221					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.3663C>T	CCDS1536.1																																																																																				PASS	0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	52	8	52	---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223989849	223989849	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:223989849G>A	ENST00000343537.7	-	9	1485	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N	TP53BP2_ENST00000391878.2_Silent_p.N269N|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'Flank	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	392					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.N398N(1)|p.N269N(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CAGATCTCATGTTGGGCAGTG	0.493																																						uc010pvb.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)	3						c.(1192-1194)AAC>AAT		tumor protein p53 binding protein, 2 isoform 1							95.0	100.0	98.0					1																	223989849		2203	4300	6503	SO:0001819	synonymous_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223989849G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1194C>T	1.37:g.223989849G>A						TP53BP2_uc001hod.2_Silent_p.N269N|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_Silent_p.N37N	p.N398N	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	9	1486	-			392					B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	c.1194C>T	CCDS44319.1																																																																																				PASS	0.493	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		12	66	12	66	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228469829	228469829	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:228469829A>T	ENST00000422127.1	+	31	8437	c.8393A>T	c.(8392-8394)gAg>gTg	p.E2798V	OBSCN_ENST00000284548.11_Missense_Mutation_p.E2798V|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame|OBSCN_ENST00000570156.2_Missense_Mutation_p.E3227V|OBSCN_ENST00000366707.4_De_novo_Start_OutOfFrame|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1645V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2798	Ig-like 27.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E2798V(1)|p.E2852V(1)|p.E2982V(1)|p.E3081V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGTCCGGGAGGCTGCACCA	0.652																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8392-8394)GAG>GTG		obscurin, cytoskeletal calmodulin and							34.0	40.0	38.0					1																	228469829		2017	4174	6191	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228469829A>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8393A>T	1.37:g.228469829A>T	ENSP00000409493:p.Glu2798Val					OBSCN_uc001hsn.2_Missense_Mutation_p.E2798V|OBSCN_uc001hsp.1_Missense_Mutation_p.E497V|OBSCN_uc001hsq.1_Missense_Mutation_p.E54V	p.E2798V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			31	8437	+		Prostate(94;0.0405)	2798			Ig-like 27.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8393A>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535863	0.27475	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.44083	0.93;0.93;0.93	4.45	3.32	0.38043	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.588127	0.16266	N	0.222011	T	0.50973	0.1647	M	0.75615	2.305	0.41316	D	0.987146	D;B;P	0.61080	0.989;0.435;0.778	P;B;B	0.52710	0.707;0.277;0.433	T	0.46076	-0.9217	10	0.30078	T	0.28	.	8.9714	0.35908	0.8404:0.0:0.1596:0.0	.	2798;2798;2798	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	V	2798;2798;1645;497;204	ENSP00000284548:E2798V;ENSP00000409493:E2798V;ENSP00000352613:E1645V	ENSP00000284548:E2798V	E	+	2	0	OBSCN	226536452	0.971000	0.33674	0.007000	0.13788	0.004000	0.04260	2.541000	0.45735	0.675000	0.31264	0.379000	0.24179	GAG		PASS	0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	9	4	9	---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979363	230979363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:230979363C>A	ENST00000366663.5	-	3	804	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	C1orf198_ENST00000427697.2_Nonsense_Mutation_p.E5*|C1orf198_ENST00000470540.1_Nonsense_Mutation_p.E184*|C1orf198_ENST00000523410.1_Nonsense_Mutation_p.E92*	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	222						cytoplasm (GO:0005737)		p.E222*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AAGACCTTTTCCCCCTTCTCC	0.627																																						uc001hub.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(664-666)GAA>TAA		hypothetical protein LOC84886 isoform 1							83.0	82.0	82.0					1																	230979363		2203	4300	6503	SO:0001587	stop_gained	84886							g.chr1:230979363C>A	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.664G>T	1.37:g.230979363C>A	ENSP00000355623:p.Glu222*					C1orf198_uc009xfh.1_Nonsense_Mutation_p.E92*|C1orf198_uc001huc.1_Nonsense_Mutation_p.E5*|C1orf198_uc001hud.1_Nonsense_Mutation_p.E184*	p.E222*	NM_032800	NP_116189	Q9H425	CA198_HUMAN			3	708	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	222					A8K8R8|B3KTW1|G5EA08	Nonsense_Mutation	SNP	ENST00000366663.5	37	c.664G>T	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864707	0.97043	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000427697;ENST00000523410	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-12.7886	17.4393	0.87561	0.0:1.0:0.0:0.0	.	.	.	.	X	222;184;5;92	.	ENSP00000355623:E222X	E	-	1	0	C1orf198	229045986	1.000000	0.71417	0.891000	0.34965	0.992000	0.81027	7.449000	0.80643	2.100000	0.63781	0.462000	0.41574	GAA		PASS	0.627	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		9	62	9	62	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232575113	232575113	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:232575113T>A	ENST00000366630.1	-	14	4130	c.3772A>T	c.(3772-3774)Atc>Ttc	p.I1258F	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.I332F|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I1258F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1258					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.I1258F(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCCCTTTGATGTAGGTCAGC	0.622																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3772-3774)ATC>TTC		signal-induced proliferation-associated 1 like							62.0	68.0	66.0					1																	232575113		2133	4265	6398	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232575113T>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3772A>T	1.37:g.232575113T>A	ENSP00000355589:p.Ile1258Phe					SIPA1L2_uc001hvf.2_Missense_Mutation_p.I332F	p.I1258F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			13	3930	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1258					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3772A>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955720	0.53293	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.50277	0.75;0.75;0.75	5.39	3.06	0.35304	.	0.256364	0.37178	N	0.002206	T	0.48187	0.1486	M	0.69823	2.125	0.51233	D	0.999917	B;P	0.34639	0.047;0.461	B;B	0.39299	0.022;0.296	T	0.45205	-0.9277	10	0.59425	D	0.04	-13.2419	8.1796	0.31302	0.0:0.0693:0.1352:0.7955	.	1258;332	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	F	1258;1258;332	ENSP00000355589:I1258F;ENSP00000262861:I1258F;ENSP00000309102:I332F	ENSP00000262861:I1258F	I	-	1	0	SIPA1L2	230641736	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	3.035000	0.49759	0.483000	0.27608	0.528000	0.53228	ATC		PASS	0.622	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	32	5	32	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232579347	232579347	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:232579347C>A	ENST00000366630.1	-	11	3796		c.e11+1		SIPA1L2_ENST00000308942.4_Splice_Site|SIPA1L2_ENST00000262861.4_Splice_Site			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.?(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGAACAGTACCCGTCGTAGC	0.527																																						uc001hvg.2																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.e10+1		signal-induced proliferation-associated 1 like							78.0	86.0	84.0					1																	232579347		1913	4128	6041	SO:0001630	splice_region_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232579347C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3437+1G>T	1.37:g.232579347C>A						SIPA1L2_uc001hvf.2_Splice_Site_p.G220_splice	p.G1146_splice	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			10	3595	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)						Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Splice_Site	SNP	ENST00000366630.1	37	c.3437_splice	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191560	0.78902	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1467	0.89659	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIPA1L2	230645970	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.648000	0.74359	2.701000	0.92244	0.650000	0.86243	.		PASS	0.527	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	Intron	4	18	4	18	---	---	---	---
EDARADD	128178	broad.mit.edu	37	1	236645625	236645625	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:236645625G>T	ENST00000334232.4	+	6	491	c.324G>T	c.(322-324)cgG>cgT	p.R108R	EDARADD_ENST00000359362.5_Silent_p.R98R	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	108					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.R108R(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)			GCTTGCTCCGGGCCCCCACCA	0.488																																						uc001hxu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(322-324)CGG>CGT		EDAR-associated death domain isoform A							81.0	78.0	79.0					1																	236645625		2203	4300	6503	SO:0001819	synonymous_variant	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236645625G>T	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.324G>T	1.37:g.236645625G>T						EDARADD_uc001hxv.1_Silent_p.R98R	p.R108R	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	389	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	108					A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Silent	SNP	ENST00000334232.4	37	c.324G>T	CCDS1610.1																																																																																				PASS	0.488	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		9	29	9	29	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237941988	237941988	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:237941988A>G	ENST00000366574.2	+	88	12115	c.11798A>G	c.(11797-11799)cAg>cGg	p.Q3933R	RYR2_ENST00000542537.1_Missense_Mutation_p.Q3917R|RYR2_ENST00000360064.6_Missense_Mutation_p.Q3939R|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3933					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q3931R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGAATCAACAGAGTTTGGCA	0.448																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11797-11799)CAG>CGG		cardiac muscle ryanodine receptor							109.0	106.0	107.0					1																	237941988		1894	4121	6015	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237941988A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11798A>G	1.37:g.237941988A>G	ENSP00000355533:p.Gln3933Arg					RYR2_uc010pya.1_Missense_Mutation_p.Q348R	p.Q3933R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		88	11918	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3933					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11798A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995760	0.74703	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95205	-3.64;-3.64;-3.64	5.46	5.46	0.80206	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	D	0.000013	D	0.96651	0.8907	M	0.69358	2.11	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.80764	0.994;0.953	D	0.97012	0.9737	10	0.62326	D	0.03	-13.86	15.8331	0.78773	1.0:0.0:0.0:0.0	.	907;3933	B4DGV4;Q92736	.;RYR2_HUMAN	R	3933;3939;3917;907	ENSP00000355533:Q3933R;ENSP00000353174:Q3939R;ENSP00000443798:Q3917R	ENSP00000353174:Q3939R	Q	+	2	0	RYR2	236008611	1.000000	0.71417	0.994000	0.49952	0.434000	0.31775	9.287000	0.95975	2.192000	0.70111	0.460000	0.39030	CAG		PASS	0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	21	5	21	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947713	237947713	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:237947713C>G	ENST00000366574.2	+	90	13018	c.12701C>G	c.(12700-12702)gCt>gGt	p.A4234G	RYR2_ENST00000542537.1_Missense_Mutation_p.A4218G|RYR2_ENST00000360064.6_Missense_Mutation_p.A4240G|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4234					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A4232G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGAGGATGGCTTTCTTCTCC	0.552																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12700-12702)GCT>GGT		cardiac muscle ryanodine receptor							58.0	65.0	62.0					1																	237947713		1973	4154	6127	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947713C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12701C>G	1.37:g.237947713C>G	ENSP00000355533:p.Ala4234Gly					RYR2_uc010pya.1_Missense_Mutation_p.A649G	p.A4234G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12821	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4234			Helical; Name=M3; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12701C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449317	0.01080	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96651	-4.08;-4.04;-4.07	5.11	3.22	0.36961	.	0.165878	0.37761	N	0.001953	D	0.88672	0.6500	N	0.10707	0.03	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80894	-0.1178	10	0.15066	T	0.55	.	10.6759	0.45785	0.0:0.2741:0.5888:0.1372	.	1208;4234	B4DGV4;Q92736	.;RYR2_HUMAN	G	4234;4240;4218;1208	ENSP00000355533:A4234G;ENSP00000353174:A4240G;ENSP00000443798:A4218G	ENSP00000353174:A4240G	A	+	2	0	RYR2	236014336	1.000000	0.71417	0.356000	0.25785	0.021000	0.10359	4.310000	0.59141	0.724000	0.32296	-0.147000	0.13772	GCT		PASS	0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	11	4	11	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240978064	240978064	+	Missense_Mutation	SNP	T	T	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:240978064T>G	ENST00000407727.1	-	11	796	c.797A>C	c.(796-798)cAa>cCa	p.Q266P	RGS7_ENST00000366562.4_Missense_Mutation_p.Q266P|RGS7_ENST00000348120.2_Missense_Mutation_p.Q213P|RGS7_ENST00000366565.1_Missense_Mutation_p.Q266P|RGS7_ENST00000401882.1_Missense_Mutation_p.Q213P|RGS7_ENST00000366564.1_Missense_Mutation_p.Q266P|RGS7_ENST00000331110.7_Missense_Mutation_p.Q240P|RGS7_ENST00000366563.1_Missense_Mutation_p.Q266P|RGS7_ENST00000446183.2_Missense_Mutation_p.Q182P			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	266	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.Q266P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAACTGTATTTGCCAATATTT	0.318																																						uc001hyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(796-798)CAA>CCA		regulator of G-protein signaling 7							103.0	109.0	107.0					1																	240978064		2203	4297	6500	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240978064T>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.797A>C	1.37:g.240978064T>G	ENSP00000384428:p.Gln266Pro					RGS7_uc010pyh.1_Missense_Mutation_p.Q240P|RGS7_uc010pyj.1_Missense_Mutation_p.Q182P|RGS7_uc001hyu.2_Missense_Mutation_p.Q266P|RGS7_uc009xgn.1_Missense_Mutation_p.Q213P|RGS7_uc001hyw.2_Missense_Mutation_p.Q266P|RGS7_uc001hyt.2_Missense_Mutation_p.Q98P	p.Q266P	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		12	1127	-		all_cancers(173;0.0131)	266			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.797A>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.214395	0.79352	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	6.06	6.06	0.98353	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.56199	1.76	0.58432	D	0.999999	P;P;P;P;P;P;P	0.45212	0.62;0.853;0.823;0.566;0.823;0.82;0.853	P;P;P;B;P;P;P	0.50617	0.53;0.646;0.513;0.395;0.513;0.477;0.646	T	0.11275	-1.0594	10	0.66056	D	0.02	-11.342	15.7905	0.78357	0.0:0.0:0.0:1.0	.	182;240;213;266;266;266;266	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	P	240;266;266;266;97;213;182;266;266;213	ENSP00000331485:Q240P;ENSP00000355523:Q266P;ENSP00000355522:Q266P;ENSP00000355521:Q266P;ENSP00000404399:Q97P;ENSP00000341242:Q213P;ENSP00000390138:Q182P;ENSP00000355520:Q266P;ENSP00000384428:Q266P;ENSP00000385508:Q213P	ENSP00000331485:Q240P	Q	-	2	0	RGS7	239044687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	CAA		PASS	0.318	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		11	71	11	71	---	---	---	---
OPN3	23596	broad.mit.edu	37	1	241753539	241753539	+	IGR	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:241753539G>A	ENST00000366554.2	-	0	2620				KMO_ENST00000366559.4_Missense_Mutation_p.V412M|KMO_ENST00000366557.4_Missense_Mutation_p.V378M|KMO_ENST00000366558.3_Missense_Mutation_p.V399M	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.V412M(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCATGAGGCTGTGCAGCGTTG	0.318																																						uc009xgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1234-1236)GTG>ATG		kynurenine 3-monooxygenase							112.0	114.0	113.0					1																	241753539		2203	4300	6503	SO:0001628	intergenic_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241753539G>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241753539G>A						KMO_uc001hyy.2_Missense_Mutation_p.V399M|KMO_uc009xgo.1_Missense_Mutation_p.V412M	p.V412M	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		14	1299	+	Ovarian(103;0.103)|all_lung(81;0.23)		412					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.1234G>A	CCDS31072.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.346|6.346	0.431976|0.431976	0.12045|0.12045	.|.	.|.	ENSG00000117009|ENSG00000117009	ENST00000366555|ENST00000366559;ENST00000366558;ENST00000366557	.|T;T;T	.|0.51817	.|0.82;0.86;0.69	5.47|5.47	0.263|0.263	0.15602|0.15602	.|.	.|0.194274	.|0.44483	.|D	.|0.000459	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.41124|0.41124	1.26|1.26	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.35401	.|0.366;0.366;0.499	.|B;B;B	.|0.35312	.|0.073;0.073;0.2	T|T	0.03423|0.03423	-1.1038|-1.1038	5|10	.|0.40728	.|T	.|0.16	.|.	6.8427|6.8427	0.23971|0.23971	0.1592:0.4164:0.4243:0.0|0.1592:0.4164:0.4243:0.0	.|.	.|412;412;399	.|O15229;A8K693;O15229-2	.|KMO_HUMAN;.;.	Y|M	97|412;399;378	.|ENSP00000355517:V412M;ENSP00000355516:V399M;ENSP00000355515:V378M	.|ENSP00000355515:V378M	C|V	+|+	2|1	0|0	KMO|KMO	239820162|239820162	0.113000|0.113000	0.22115|0.22115	0.274000|0.274000	0.24659|0.24659	0.040000|0.040000	0.13550|0.13550	0.377000|0.377000	0.20552|0.20552	-0.200000|-0.200000	0.10300|0.10300	-0.136000|-0.136000	0.14681|0.14681	TGT|GTG		PASS	0.318	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		12	69	12	69	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248031145	248031145	+	Splice_Site	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:248031145A>T	ENST00000366481.3	+	4	795		c.e4-1		OR2W3_ENST00000537741.1_5'Flank	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58							intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCCTTTTCAGGGTGTGAGA	0.463																																						uc001ido.2																			1	Unknown(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.e4-2		tripartite motif-containing 58							121.0	116.0	118.0					1																	248031145		2203	4300	6503	SO:0001630	splice_region_variant	25893					intracellular	zinc ion binding	g.chr1:248031145A>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.748-1A>T	1.37:g.248031145A>T						OR2W3_uc001idp.1_5'Flank	p.G250_splice	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		4	796	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)						Q6B0H9	Splice_Site	SNP	ENST00000366481.3	37	c.748_splice	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	9.858	1.195524	0.22037	.	.	ENSG00000162722	ENST00000366481	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3955	0.49838	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM58	246097768	0.998000	0.40836	0.907000	0.35723	0.188000	0.23474	2.996000	0.49449	2.115000	0.64714	0.460000	0.39030	.		PASS	0.463	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	Intron	7	29	7	29	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436853	248436853	+	Missense_Mutation	SNP	C	C	A	rs370178953		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:248436853C>A	ENST00000318021.2	-	1	285	c.264G>T	c.(262-264)aaG>aaT	p.K88N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K88N(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GGGAGATGGCCTTACTTCCGG	0.567																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(262-264)AAG>AAT		olfactory receptor, family 2, subfamily T,		C	ASN/LYS	1,4405		0,1,2202	92.0	83.0	86.0		264	-0.6	0.0	1		86	0,8594		0,0,4297	no	missense	OR2T33	NM_001004695.1	94	0,1,6499	AA,AC,CC		0.0,0.0227,0.0077	benign	88/321	248436853	1,12999	2203	4297	6500	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436853C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.264G>T	1.37:g.248436853C>A	ENSP00000324687:p.Lys88Asn						p.K88N	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	264	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		88			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.264G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.391	-0.923250	0.02377	2.27E-4	0.0	ENSG00000177212	ENST00000318021	T	0.38240	1.15	2.7	-0.614	0.11590	GPCR, rhodopsin-like superfamily (1);	0.211367	0.23107	U	0.051852	T	0.24470	0.0593	L	0.45744	1.44	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.12630	-1.0540	10	0.34782	T	0.22	.	5.0083	0.14298	0.0:0.4778:0.3327:0.1896	.	88	Q8NG76	O2T33_HUMAN	N	88	ENSP00000324687:K88N	ENSP00000324687:K88N	K	-	3	2	OR2T33	246503476	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.735000	0.00802	0.122000	0.18314	0.494000	0.49563	AAG		PASS	0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		16	83	16	83	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685066	248685066	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:248685066T>C	ENST00000343414.4	+	1	151	c.119T>C	c.(118-120)cTg>cCg	p.L40P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L40P(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGAGCCTTCTGGGGAACACT	0.463																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(118-120)CTG>CCG		olfactory receptor, family 2, subfamily G,							155.0	137.0	143.0					1																	248685066		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685066T>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.119T>C	1.37:g.248685066T>C	ENSP00000341291:p.Leu40Pro						p.L40P	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	119	+	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)	all_cancers(173;0.0156)	40			Helical; Name=1; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.119T>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	9.867	1.197842	0.22037	.	.	ENSG00000188558	ENST00000343414	T	0.00625	6.14	3.83	3.83	0.44106	.	0.404642	0.17624	U	0.167630	T	0.02571	0.0078	M	0.89904	3.07	0.09310	N	0.999996	D	0.56035	0.974	P	0.50896	0.653	T	0.16364	-1.0405	10	0.87932	D	0	.	11.7146	0.51645	0.0:0.0:0.0:1.0	.	40	Q5TZ20	OR2G6_HUMAN	P	40	ENSP00000341291:L40P	ENSP00000341291:L40P	L	+	2	0	OR2G6	246751689	0.000000	0.05858	0.309000	0.25155	0.161000	0.22273	0.481000	0.22260	1.598000	0.50083	0.329000	0.21502	CTG		PASS	0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		9	52	9	52	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211704	249211704	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr1:249211704G>T	ENST00000329291.5	+	3	1068	c.921G>T	c.(919-921)gtG>gtT	p.V307V	PGBD2_ENST00000355360.4_Silent_p.V56V|PGBD2_ENST00000539153.1_Silent_p.V304V	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	307								p.V307V(1)|p.V56V(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTACTTGGTGTGGTTTGAGC	0.542																																						uc001ifh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(919-921)GTG>GTT		hypothetical protein LOC267002 isoform a							85.0	88.0	87.0					1																	249211704		2203	4300	6503	SO:0001819	synonymous_variant	267002							g.chr1:249211704G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.921G>T	1.37:g.249211704G>T						PGBD2_uc001ifg.2_Silent_p.V56V|PGBD2_uc009xhd.2_Silent_p.V304V	p.V307V	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1068	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	307					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.921G>T	CCDS31128.1																																																																																				PASS	0.542	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	57	7	57	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1544421	1544421	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:1544421C>T	ENST00000345913.4	+	16	2765	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	TPO_ENST00000346956.3_Missense_Mutation_p.P848S|TPO_ENST00000349624.3_Missense_Mutation_p.P719S|TPO_ENST00000329066.4_Missense_Mutation_p.P892S|TPO_ENST00000382201.3_Missense_Mutation_p.P835S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.P719S|TPO_ENST00000337415.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	892					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.P892S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGGAACTCCCGAGCTGAG	0.642																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2674-2676)CCC>TCC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						89.0	74.0	79.0					2																	1544421		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1544421C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2674C>T	2.37:g.1544421C>T	ENSP00000318820:p.Pro892Ser					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.P835S|TPO_uc002qwr.2_Missense_Mutation_p.P892S|TPO_uc002qwx.2_Missense_Mutation_p.P835S|TPO_uc010yio.1_Missense_Mutation_p.P719S|TPO_uc010yip.1_Missense_Mutation_p.P848S|TPO_uc002qwy.1_Missense_Mutation_p.P188S|TPO_uc002qwz.2_Intron	p.P892S	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	16	2765	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	892			Cytoplasmic (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2674C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126816	0.20959	.	.	ENSG00000115705	ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	T;T;T;T;T;T;T;T;T	0.68903	-0.16;-0.26;0.09;-0.16;-0.11;0.09;-0.3;0.52;-0.36	1.43	-1.52	0.08637	.	3.512700	0.01393	N	0.013305	T	0.41166	0.1147	N	0.08118	0	0.09310	N	1	B;B;B;B	0.31817	0.206;0.341;0.003;0.0	B;B;B;B	0.28011	0.058;0.085;0.003;0.0	T	0.17592	-1.0364	10	0.34782	T	0.22	-8.6001	1.3844	0.02237	0.3316:0.2675:0.0:0.401	.	848;719;835;892	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	S	892;848;719;892;835;719;777;322;113	ENSP00000318820:P892S;ENSP00000263886:P848S;ENSP00000332044:P719S;ENSP00000329869:P892S;ENSP00000371636:P835S;ENSP00000371633:P719S;ENSP00000405788:P777S;ENSP00000419461:P322S;ENSP00000389659:P113S	ENSP00000329869:P892S	P	+	1	0	TPO	1523428	0.005000	0.15991	0.001000	0.08648	0.009000	0.06853	0.002000	0.13061	-0.434000	0.07275	0.306000	0.20318	CCC		PASS	0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		18	45	18	45	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1680758	1680758	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:1680758C>A	ENST00000252804.4	-	8	839	c.789G>T	c.(787-789)gtG>gtT	p.V263V	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	263	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V263V(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGTGAAGTACACGGTGTTCC	0.552																																						uc002qxa.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(787-789)GTG>GTT		peroxidasin precursor							66.0	74.0	72.0					2																	1680758		2005	4179	6184	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1680758C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.789G>T	2.37:g.1680758C>A						PXDN_uc002qxb.1_Silent_p.V263V|PXDN_uc002qxc.1_Silent_p.V80V	p.V263V	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	8	853	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	263			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.789G>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.625|5.625	0.299953|0.299953	0.10622|0.10622	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|T	.|0.70986	.|-0.53	4.77|4.77	-0.892|-0.892	0.10570|0.10570	.|.	.|0.163510	.|0.40385	.|N	.|0.001117	T|T	0.57344|0.57344	0.2047|0.2047	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|7	.|0.11794	.|T	.|0.64	-23.1098|-23.1098	9.9735|9.9735	0.41768|0.41768	0.2699:0.4149:0.3153:0.0|0.2699:0.4149:0.3153:0.0	.|.	.|.	.|.	.|.	F|L	259|187	.|ENSP00000408701:V187L	.|ENSP00000408701:V187L	C|V	-|-	2|1	0|0	PXDN|PXDN	1659765|1659765	0.814000|0.814000	0.29104|0.29104	0.938000|0.938000	0.37757|0.37757	0.545000|0.545000	0.35147|0.35147	-0.048000|-0.048000	0.11944|0.11944	0.076000|0.076000	0.16826|0.16826	-0.535000|-0.535000	0.04281|0.04281	TGT|GTA		PASS	0.552	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		3	7	3	7	---	---	---	---
HS1BP3	64342	broad.mit.edu	37	2	20838383	20838383	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:20838383T>A	ENST00000304031.3	-	4	461	c.436A>T	c.(436-438)Acc>Tcc	p.T146S	HS1BP3_ENST00000402541.1_Missense_Mutation_p.T146S	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	146							phosphatidylinositol binding (GO:0035091)	p.T146S(1)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTGCTGGTGAGCCCTGCA	0.542																																						uc002rdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)ACC>TCC		HCLS1 binding protein 3							90.0	87.0	88.0					2																	20838383		2203	4300	6503	SO:0001583	missense	64342				cell communication		phosphatidylinositol binding	g.chr2:20838383T>A		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.436A>T	2.37:g.20838383T>A	ENSP00000305193:p.Thr146Ser					HS1BP3_uc002rdx.2_Missense_Mutation_p.T146S	p.T146S	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN			4	477	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		146					B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	ENST00000304031.3	37	c.436A>T	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263495	0.23136	.	.	ENSG00000118960	ENST00000304031;ENST00000402541	T;T	0.68903	-0.36;-0.36	4.59	-8.34	0.00988	Phox homologous domain (1);	1.832880	0.02902	N	0.135518	T	0.40222	0.1108	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.37888	-0.9686	10	0.08599	T	0.76	-0.5756	0.5809	0.00712	0.2974:0.2685:0.1141:0.3201	.	146;146	F6TR53;Q53T59	.;H1BP3_HUMAN	S	146	ENSP00000305193:T146S;ENSP00000384984:T146S	ENSP00000305193:T146S	T	-	1	0	HS1BP3	20701864	0.000000	0.05858	0.000000	0.03702	0.398000	0.30690	-2.689000	0.00832	-1.395000	0.02074	-0.425000	0.05940	ACC		PASS	0.542	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		7	25	7	25	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33567903	33567903	+	Splice_Site	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:33567903A>C	ENST00000404816.2	+	25	4083		c.e25-1		LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCTTTTTTGCAGATATTGATG	0.418																																						uc002ros.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.e25-2		latent transforming growth factor beta binding							171.0	151.0	158.0					2																	33567903		2203	4300	6503	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33567903A>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3731-1A>C	2.37:g.33567903A>C						LTBP1_uc002rot.2_Splice_Site_p.D919_splice|LTBP1_uc002rou.2_Splice_Site_p.D918_splice|LTBP1_uc002rov.2_Splice_Site_p.D865_splice|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	p.D1245_splice	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			25	3734	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)						A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Splice_Site	SNP	ENST00000404816.2	37	c.3734_splice	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078414	0.76528	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000415140	.	.	.	5.91	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8423	0.52361	0.9318:0.0:0.0682:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP1	33421407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.939000	0.92951	1.063000	0.40649	0.455000	0.32223	.		PASS	0.418	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Intron	24	88	24	88	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43625176	43625176	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:43625176C>G	ENST00000405006.4	-	29	4512	c.4161G>C	c.(4159-4161)ttG>ttC	p.L1387F	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.L1068F|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.L1387F	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1387								p.L1387F(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGAGTGTGGACAACAGAGTTC	0.478																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4159-4161)TTG>TTC		thyroid adenoma associated							160.0	162.0	161.0					2																	43625176		2065	4221	6286	SO:0001583	missense	63892						binding	g.chr2:43625176C>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4161G>C	2.37:g.43625176C>G	ENSP00000385995:p.Leu1387Phe					THADA_uc010far.2_Missense_Mutation_p.L582F|THADA_uc002rsx.3_Missense_Mutation_p.L1387F|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.L1096F|THADA_uc010fat.1_Missense_Mutation_p.L534F	p.L1387F	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			29	4513	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1387					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4161G>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.64|11.64	1.700331|1.700331	0.30142|0.30142	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.69435	.|-0.4;-0.4;-0.4	5.17|5.17	4.28|4.28	0.50868|0.50868	.|Armadillo-type fold (1);	.|0.000000	.|0.56097	.|D	.|0.000024	T|T	0.74527|0.74527	0.3728|0.3728	M|M	0.64260|0.64260	1.97|1.97	0.33464|0.33464	D|D	0.58532|0.58532	.|D;D;P;P	.|0.76494	.|0.99;0.999;0.872;0.883	.|D;D;P;P	.|0.71414	.|0.929;0.973;0.519;0.621	T|T	0.76702|0.76702	-0.2862|-0.2862	5|10	.|0.25106	.|T	.|0.35	.|.	9.4775|9.4775	0.38880|0.38880	0.0:0.8341:0.0:0.1659|0.0:0.8341:0.0:0.1659	.|.	.|1066;1314;1068;1387	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	S|F	627|1387;1314;1068;1387	.|ENSP00000386088:L1387F;ENSP00000416048:L1068F;ENSP00000385995:L1387F	.|ENSP00000349464:L1314F	C|L	-|-	2|3	0|2	THADA|THADA	43478680|43478680	0.034000|0.034000	0.19679|0.19679	0.709000|0.709000	0.30452|0.30452	0.016000|0.016000	0.09150|0.09150	0.285000|0.285000	0.18883|0.18883	2.398000|2.398000	0.81561|0.81561	0.650000|0.650000	0.86243|0.86243	TGT|TTG		PASS	0.478	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		11	48	11	48	---	---	---	---
PRKCE	5581	broad.mit.edu	37	2	46386887	46386887	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:46386887G>T	ENST00000306156.3	+	14	2390	c.2063G>T	c.(2062-2064)cGc>cTc	p.R688L		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	688	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.R688L(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TTCAAACCACGCATTGTAAGT	0.572																																						uc002rut.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10						c.(2062-2064)CGC>CTC		protein kinase C, epsilon							146.0	155.0	152.0					2																	46386887		1954	3904	5858	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46386887G>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.2063G>T	2.37:g.46386887G>T	ENSP00000306124:p.Arg688Leu						p.R688L	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		14	2260	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	688			AGC-kinase C-terminal.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.2063G>T	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224689	0.95173	.	.	ENSG00000171132	ENST00000306156	T	0.56103	0.48	5.27	5.27	0.74061	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.72118	2.19	0.80722	D	1	P	0.51240	0.943	P	0.55615	0.78	T	0.69967	-0.5001	10	0.56958	D	0.05	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	688	Q02156	KPCE_HUMAN	L	688	ENSP00000306124:R688L	ENSP00000306124:R688L	R	+	2	0	PRKCE	46240391	1.000000	0.71417	0.920000	0.36463	0.868000	0.49771	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	CGC		PASS	0.572	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			19	48	19	48	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49189950	49189950	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:49189950G>A	ENST00000406846.2	-	10	2129	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	FSHR_ENST00000304421.4_Silent_p.G644G|FSHR_ENST00000541117.1_Silent_p.G406G|FSHR_ENST00000346173.3_Silent_p.G608G	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	670					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.G670G(1)|p.H671N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAGAGCAGTGGCCATTCCTTG	0.438									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(2008-2010)GGC>GGT		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						129.0	122.0	125.0					2																	49189950		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49189950G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.2010C>T	2.37:g.49189950G>A						FSHR_uc002rwx.2_Silent_p.G608G|FSHR_uc010fbn.2_Silent_p.G644G	p.G670G	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2084	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	670			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.2010C>T	CCDS1843.1																																																																																				PASS	0.438	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			13	49	13	49	---	---	---	---
CLHC1	130162	broad.mit.edu	37	2	55436852	55436852	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:55436852C>G	ENST00000401408.1	-	6	960	c.615G>C	c.(613-615)caG>caC	p.Q205H	CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.Q83H|CLHC1_ENST00000407122.1_Missense_Mutation_p.Q205H	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	205								p.Q205H(2)									CAGCCTTCCTCTGAGCTGGCA	0.328																																						uc002ryi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(613-615)CAG>CAC		hypothetical protein LOC130162 isoform 1							76.0	74.0	75.0					2																	55436852		2203	4300	6503	SO:0001583	missense	130162						binding	g.chr2:55436852C>G		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.615G>C	2.37:g.55436852C>G	ENSP00000384869:p.Gln205His					C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.Q83H	p.Q205H	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		6	961	-			205			Potential.		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.615G>C	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517768	0.44763	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.19250	2.16;2.16;2.17	5.21	-1.03	0.10102	.	0.271361	0.29178	N	0.012904	T	0.34483	0.0899	M	0.66939	2.045	0.09310	N	1	D	0.67145	0.996	P	0.61328	0.887	T	0.15838	-1.0423	10	0.66056	D	0.02	-10.6498	9.6761	0.40041	0.0:0.5215:0.0:0.4785	.	205	Q8NHS4	CB063_HUMAN	H	205;205;83	ENSP00000385778:Q205H;ENSP00000384869:Q205H;ENSP00000385512:Q83H	ENSP00000384869:Q205H	Q	-	3	2	C2orf63	55290356	0.042000	0.20092	0.555000	0.28281	0.798000	0.45092	-0.252000	0.08806	-0.211000	0.10124	0.655000	0.94253	CAG		PASS	0.328	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		11	44	11	44	---	---	---	---
FIGLA	344018	broad.mit.edu	37	2	71012642	71012642	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:71012642C>G	ENST00000332372.6	-	3	518	c.514G>C	c.(514-516)Ggg>Cgg	p.G172R		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	172					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)	p.G172R(2)		endometrium(2)|lung(3)	5						GCCCAAGGCCCTTCCTCTTCA	0.488																																						uc002she.1																			2	Substitution - Missense(2)		lung(2)		0						c.(514-516)GGG>CGG		factor in the germline alpha							278.0	281.0	280.0					2																	71012642		2099	4229	6328	SO:0001583	missense	344018				multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding	g.chr2:71012642C>G	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"""Basic helix-loop-helix proteins"""	24669	protein-coding gene	gene with protein product	"""factor in the germline alpha"""	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.514G>C	2.37:g.71012642C>G	ENSP00000333097:p.Gly172Arg						p.G172R	NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN			3	519	-			172						Missense_Mutation	SNP	ENST00000332372.6	37	c.514G>C	CCDS46320.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339469	0.24339	.	.	ENSG00000183733	ENST00000332372	D	0.95918	-3.85	3.89	0.869	0.19096	.	0.405251	0.20670	N	0.087844	D	0.89143	0.6631	L	0.29908	0.895	0.28191	N	0.927772	B	0.24882	0.113	B	0.20767	0.031	T	0.81289	-0.1000	10	0.51188	T	0.08	.	5.475	0.16690	0.0:0.5797:0.0:0.4203	.	172	Q6QHK4	FIGLA_HUMAN	R	172	ENSP00000333097:G172R	ENSP00000333097:G172R	G	-	1	0	FIGLA	70866150	0.998000	0.40836	0.980000	0.43619	0.870000	0.49936	0.409000	0.21082	0.161000	0.19458	0.650000	0.86243	GGG		PASS	0.488	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331214.1	NM_001004311		15	210	15	210	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71797850	71797850	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:71797850C>A	ENST00000258104.3	+	29	3430	c.3153C>A	c.(3151-3153)agC>agA	p.S1051R	DYSF_ENST00000429174.2_Missense_Mutation_p.S1051R|DYSF_ENST00000413539.2_Missense_Mutation_p.S1082R|DYSF_ENST00000394120.2_Missense_Mutation_p.S1052R|DYSF_ENST00000409582.3_Missense_Mutation_p.S1068R|DYSF_ENST00000409762.1_Missense_Mutation_p.S1068R|DYSF_ENST00000409651.1_Missense_Mutation_p.S1083R|DYSF_ENST00000410020.3_Missense_Mutation_p.S1069R|DYSF_ENST00000410041.1_Missense_Mutation_p.S1069R|DYSF_ENST00000409744.1_Missense_Mutation_p.S1038R|DYSF_ENST00000409366.1_Missense_Mutation_p.S1052R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1051	Arg-rich.				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.S1069R(1)|p.S1051R(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						GGGATCTCAGCCAAATGGAAG	0.637																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3151-3153)AGC>AGA		dysferlin isoform 8							97.0	86.0	90.0					2																	71797850		2202	4299	6501	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797850C>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3153C>A	2.37:g.71797850C>A	ENSP00000258104:p.Ser1051Arg					DYSF_uc010feg.2_Missense_Mutation_p.S1082R|DYSF_uc010feh.2_Missense_Mutation_p.S1037R|DYSF_uc002sig.3_Missense_Mutation_p.S1037R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.S1051R|DYSF_uc010fef.2_Missense_Mutation_p.S1068R|DYSF_uc010fei.2_Missense_Mutation_p.S1068R|DYSF_uc010fek.2_Missense_Mutation_p.S1069R|DYSF_uc010fej.2_Missense_Mutation_p.S1038R|DYSF_uc010fel.2_Missense_Mutation_p.S1038R|DYSF_uc010feo.2_Missense_Mutation_p.S1083R|DYSF_uc010fem.2_Missense_Mutation_p.S1052R|DYSF_uc010fen.2_Missense_Mutation_p.S1069R|DYSF_uc002sif.2_Missense_Mutation_p.S1052R	p.S1051R	NM_003494	NP_003485	O75923	DYSF_HUMAN			29	3529	+			1051			Cytoplasmic (Potential).|Arg-rich.		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.3153C>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317978	0.60524	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.65;-1.65;-1.66;-1.66;-1.66;-1.65;-1.65;-1.65;-1.66	5.04	5.04	0.67666	.	0.679458	0.15270	N	0.271275	T	0.73992	0.3658	N	0.14661	0.345	0.37248	D	0.906444	P;P;P;B;B;B;B;B;P;B;P;B;P;B	0.41947	0.766;0.766;0.534;0.321;0.243;0.117;0.243;0.243;0.766;0.442;0.637;0.38;0.534;0.399	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.42030	0.373;0.283;0.283;0.205;0.138;0.138;0.138;0.138;0.283;0.219;0.373;0.283;0.373;0.147	T	0.76841	-0.2810	10	0.34782	T	0.22	-27.2217	15.9059	0.79430	0.0:1.0:0.0:0.0	.	1083;1069;1052;1038;1069;1038;1068;1037;1082;1068;1051;1037;1052;1051	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	1082;1068;1068;1051;1051;1083;1052;1038;1052;1069;1069	ENSP00000407046:S1082R;ENSP00000387137:S1068R;ENSP00000386547:S1068R;ENSP00000398305:S1051R;ENSP00000258104:S1051R;ENSP00000386683:S1083R;ENSP00000377678:S1052R;ENSP00000386285:S1038R;ENSP00000386512:S1052R;ENSP00000386881:S1069R;ENSP00000386617:S1069R	ENSP00000258104:S1051R	S	+	3	2	DYSF	71651358	0.989000	0.36119	1.000000	0.80357	0.988000	0.76386	0.605000	0.24179	2.332000	0.79248	0.655000	0.94253	AGC		PASS	0.637	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	21	7	21	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73676776	73676776	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:73676776A>T	ENST00000264448.6	+	8	3230	c.3119A>T	c.(3118-3120)gAg>gTg	p.E1040V	ALMS1_ENST00000409009.1_Missense_Mutation_p.E998V|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1040V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1040	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E1040V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGAAGACTGAGATACCAGCA	0.468																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(3124-3126)GAG>GTG		Alstrom syndrome 1							133.0	131.0	131.0					2																	73676776		1867	4110	5977	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73676776A>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3119A>T	2.37:g.73676776A>T	ENSP00000264448:p.Glu1040Val					ALMS1_uc002sjf.1_Missense_Mutation_p.E998V|ALMS1_uc002sjg.2_Missense_Mutation_p.E428V|ALMS1_uc002sjh.1_Missense_Mutation_p.E428V	p.E1042V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	3236	+			1040			34 X 47 AA approximate tandem repeat.|11.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3125A>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689505	0.29962	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16324	3.24;3.24;2.35	4.58	-0.382	0.12481	.	0.641780	0.13864	N	0.357455	T	0.10508	0.0257	N	0.19112	0.55	0.09310	N	1	P;P;P	0.39782	0.682;0.496;0.688	B;B;B	0.41088	0.281;0.108;0.347	T	0.28427	-1.0044	10	0.30078	T	0.28	.	7.6139	0.28145	0.4882:0.0:0.5118:0.0	.	1040;998;1040	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	998;1040;1040	ENSP00000386627:E998V;ENSP00000264448:E1040V;ENSP00000366944:E1040V	ENSP00000264448:E1040V	E	+	2	0	ALMS1	73530284	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.122000	0.10627	-0.084000	0.12595	-0.242000	0.12053	GAG		PASS	0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		44	80	44	80	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73800227	73800228	+	Nonsense_Mutation	DNP	GG	GG	TT	rs28730859		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:73800227_73800228GG>TT	ENST00000264448.6	+	16	11331_11332	c.11220_11221GG>TT	c.(11218-11223)gaGGag>gaTTag	p.3740_3741EE>D*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.3698_3699EE>D*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3740					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E3741*(1)|p.E3740_E3741>D*(1)|p.E3740D(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCCCTCAGAGGAGAGTGAGCT	0.391																																						uc002sje.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11224-11226)GAG>GAT|c.(11227-11229)GAG>TAG		Alstrom syndrome 1																																				SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73800227G>T|g.chr2:73800228G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	Exception_encountered	2.37:g.73800227_73800228delinsTT	ENSP00000264448:p.E3740_E3741delinsD*					ALMS1_uc002sjf.1_Missense_Mutation_p.E3698D|ALMS1_uc002sjg.2_Missense_Mutation_p.E3128D|ALMS1_uc002sjh.1_Missense_Mutation_p.E3128D|ALMS1_uc002sjf.1_Nonsense_Mutation_p.E3699*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.E3129*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.E3129*	p.E3742D|p.E3743*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			18	11337|11338	+			3740|3741					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000264448.6	37	c.11226G>T|c.11227G>T	CCDS42697.1																																																																																				PASS	0.391	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		13	41|40	13	40	---	---	---	---
IGKV1D-16	28901	broad.mit.edu	37	2	90139486	90139486	+	RNA	SNP	G	G	A	rs373137298		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:90139486G>A	ENST00000492446.1	+	0	284									immunoglobulin kappa variable 1D-16																		AGGTTCAGCGGCAGTGGATCT	0.493																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.		G		1,3667		0,1,1833	79.0	83.0	81.0			2.1	0.2	2		81	0,8142		0,0,4071	no	intergenic				0,1,5904	AA,AG,GG		0.0,0.0273,0.0085			90139486	1,11809	1834	4071	5905			0							g.chr2:90139486G>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139486G>A														18		+									RNA	SNP	ENST00000492446.1	37	c.2279G>A																																																																																					PASS	0.493	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		41	82	41	82	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96968949	96968949	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:96968949C>A	ENST00000323853.5	-	3	406	c.329G>T	c.(328-330)cGg>cTg	p.R110L	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R110L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	110					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R110L(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATAGGTCTCCCGAGTCTCTTT	0.453																																						uc002svu.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(328-330)CGG>CTG		activating signal cointegrator 1 complex subunit							275.0	281.0	279.0					2																	96968949		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96968949C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.329G>T	2.37:g.96968949C>A	ENSP00000317123:p.Arg110Leu						p.R110L	NM_014014	NP_054733	O75643	U520_HUMAN			3	415	-			110					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.329G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858956	0.91433	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.90145	3.09	0.80722	D	1	P	0.37914	0.611	B	0.36335	0.222	T	0.65713	-0.6101	10	0.87932	D	0	-14.7667	18.9896	0.92786	0.0:1.0:0.0:0.0	.	110	O75643	U520_HUMAN	L	110	ENSP00000317123:R110L;ENSP00000326937:R110L	ENSP00000317123:R110L	R	-	2	0	SNRNP200	96332676	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.416000	0.80143	2.785000	0.95823	0.655000	0.94253	CGG		PASS	0.453	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		101	222	101	222	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98411438	98411438	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:98411438G>A	ENST00000186436.5	-	29	3569	c.3341C>T	c.(3340-3342)cCt>cTt	p.P1114L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1114						integral component of membrane (GO:0016021)		p.P1001L(1)|p.P1114L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTCCCAGTTAGGTCTGGGTAG	0.393																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3340-3342)CCT>CTT		RW1 protein							78.0	76.0	77.0					2																	98411438		1895	4118	6013	SO:0001583	missense	23505					integral to membrane		g.chr2:98411438G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3341C>T	2.37:g.98411438G>A	ENSP00000186436:p.Pro1114Leu						p.P1114L	NM_015348	NP_056163	Q92545	TM131_HUMAN			29	3570	-			1114						Missense_Mutation	SNP	ENST00000186436.5	37	c.3341C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258750	0.95368	.	.	ENSG00000075568	ENST00000186436	T	0.38722	1.12	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65005	-0.6273	10	0.62326	D	0.03	-17.2786	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1114	Q92545	TM131_HUMAN	L	1114	ENSP00000186436:P1114L	ENSP00000186436:P1114L	P	-	2	0	TMEM131	97777870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	CCT		PASS	0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		3	15	3	15	---	---	---	---
RALB	5899	broad.mit.edu	37	2	121050722	121050722	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:121050722C>A	ENST00000272519.5	+	5	777	c.507C>A	c.(505-507)ttC>ttA	p.F169L	RALB_ENST00000420510.1_Missense_Mutation_p.F169L|RALB_ENST00000474855.2_Missense_Mutation_p.F191L|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Missense_Mutation_p.F190L	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	169					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F169L(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CCCAGGTGTTCTTTGACCTAA	0.343																																						uc002tmk.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(505-507)TTC>TTA		v-ral simian leukemia viral oncogene homolog B							63.0	63.0	63.0					2																	121050722		2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121050722C>A		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.507C>A	2.37:g.121050722C>A	ENSP00000272519:p.Phe169Leu					RALB_uc010yys.1_Missense_Mutation_p.F191L|RALB_uc002tml.2_Missense_Mutation_p.F190L|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_RNA	p.F169L	NM_002881	NP_002872	P11234	RALB_HUMAN			5	697	+		Prostate(154;0.122)	169					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.507C>A	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021017	0.75275	.	.	ENSG00000144118	ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.95	3.13	0.36017	Small GTP-binding protein domain (1);	0.113493	0.64402	D	0.000011	D	0.91284	0.7252	H	0.95780	3.72	0.54753	D	0.999987	P;P;P	0.48640	0.734;0.913;0.492	P;P;P	0.56278	0.795;0.669;0.689	D	0.90713	0.4629	10	0.72032	D	0.01	.	9.7617	0.40537	0.0:0.7164:0.0:0.2836	.	191;190;169	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	L	191;169;169;190	ENSP00000438764:F191L;ENSP00000272519:F169L;ENSP00000414224:F169L;ENSP00000384328:F190L	ENSP00000272519:F169L	F	+	3	2	RALB	120767192	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.272000	0.43373	0.383000	0.24910	-0.140000	0.14226	TTC		PASS	0.343	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		9	30	9	30	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130914946	130914946	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:130914946C>A	ENST00000409031.1	-	12	2240	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D	SMPD4_ENST00000453750.1_Missense_Mutation_p.E113D|SMPD4_ENST00000443958.2_Missense_Mutation_p.E28D|SMPD4_ENST00000351288.6_Missense_Mutation_p.E335D|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.E222D|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.E262D|SMPD4_ENST00000452225.2_Missense_Mutation_p.E105D	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	325					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.E364D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCAACACATGCTCCTCAGTAG	0.642																																						uc002tqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)GAG>GAT		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						29.0	28.0	28.0					2																	130914946		2199	4295	6494	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130914946C>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1092G>T	2.37:g.130914946C>A	ENSP00000386531:p.Glu364Asp					SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.E57D|SMPD4_uc010yzy.1_Missense_Mutation_p.E113D|SMPD4_uc010yzz.1_Missense_Mutation_p.E28D|SMPD4_uc002tqr.1_Missense_Mutation_p.E335D|SMPD4_uc002tqs.1_Missense_Mutation_p.E232D|SMPD4_uc002tqt.1_Missense_Mutation_p.E213D|SMPD4_uc010zaa.1_Missense_Mutation_p.E222D|SMPD4_uc010zab.1_Missense_Mutation_p.E262D|SMPD4_uc010zac.1_Missense_Mutation_p.E105D|SMPD4_uc010zad.1_Intron	p.E364D	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			12	1612	-	Colorectal(110;0.1)		325					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1092G>T	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.87|18.87	3.715878|3.715878	0.68844|0.68844	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000451542|ENST00000439886	.|.	.|.	.|.	3.71|3.71	2.79|2.79	0.32731|0.32731	.|.	0.114787|.	0.56097|.	D|.	0.000021|.	T|T	0.58192|0.58192	0.2105|0.2105	L|L	0.49455|0.49455	1.56|1.56	0.45318|0.45318	D|D	0.998317|0.998317	B;B;B;D;B;B;P;P|.	0.54047|.	0.081;0.047;0.022;0.964;0.341;0.295;0.791;0.592|.	B;B;B;P;B;B;B;B|.	0.47102|.	0.065;0.019;0.013;0.537;0.152;0.101;0.333;0.153|.	T|T	0.51576|0.51576	-0.8688|-0.8688	9|5	0.12766|.	T|.	0.61|.	.|.	10.5681|10.5681	0.45184|0.45184	0.0:0.8012:0.1988:0.0|0.0:0.8012:0.1988:0.0	.|.	105;262;222;113;296;325;364;325|.	B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4|.	.;.;.;.;.;NSMA3_HUMAN;.;.|.	D|I	335;364;262;113;28;222;105;112|193	.|.	ENSP00000339721:E222D|.	E|S	-|-	3|2	2|0	SMPD4|SMPD4	130631416|130631416	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.806000|0.806000	0.45545|0.45545	3.778000|3.778000	0.55371|0.55371	0.489000|0.489000	0.27749|0.27749	0.449000|0.449000	0.29647|0.29647	GAG|AGC		PASS	0.642	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		3	5	3	5	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131128159	131128159	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:131128159G>A	ENST00000175756.5	+	9	820	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	PTPN18_ENST00000347849.3_Missense_Mutation_p.C133Y	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	240	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.C240Y(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GGCGTCCTGTGCACCGTGGAT	0.572																																						uc002trc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(718-720)TGC>TAC		protein tyrosine phosphatase, non-receptor type							213.0	162.0	179.0					2																	131128159		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131128159G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.719G>A	2.37:g.131128159G>A	ENSP00000175756:p.Cys240Tyr					PTPN18_uc002trd.2_Missense_Mutation_p.C219Y|PTPN18_uc002trb.2_Missense_Mutation_p.C133Y|PTPN18_uc002tre.2_5'Flank	p.C240Y	NM_014369	NP_055184	Q99952	PTN18_HUMAN			9	820	+	Colorectal(110;0.1)		240			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.719G>A	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784859	0.70222	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;D	0.83914	2.54;-1.78	4.88	4.88	0.63580	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.40222	N	0.001141	D	0.92270	0.7548	M	0.88640	2.97	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.93486	0.6831	10	0.87932	D	0	.	16.3388	0.83075	0.0:0.0:1.0:0.0	.	219;240;133	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	Y	240;133;219	ENSP00000175756:C240Y;ENSP00000310092:C133Y	ENSP00000175756:C240Y	C	+	2	0	PTPN18	130844629	1.000000	0.71417	0.972000	0.41901	0.420000	0.31355	5.149000	0.64863	2.645000	0.89757	0.591000	0.81541	TGC		PASS	0.572	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			17	57	17	57	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136552210	136552210	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:136552210C>A	ENST00000264162.2	-	14	5122		c.e14+1			NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.?(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTGGACTTACCTGTCTGCAT	0.537																																						uc002tuu.1																			1	Unknown(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.e14+1		lactase-phlorizin hydrolase preproprotein							159.0	139.0	146.0					2																	136552210		2203	4300	6503	SO:0001630	splice_region_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136552210C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5111+1G>T	2.37:g.136552210C>A							p.R1704_splice	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	14	5122	-								Q4ZG58	Splice_Site	SNP	ENST00000264162.2	37	c.5111_splice	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417315	0.83449	.	.	ENSG00000115850	ENST00000264162	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9719	0.97287	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LCT	136268680	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.818000	0.86416	2.718000	0.92993	0.650000	0.86243	.		PASS	0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	Intron	18	34	18	34	---	---	---	---
HNMT	3176	broad.mit.edu	37	2	138759758	138759758	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:138759758G>T	ENST00000280097.3	+	4	605	c.423G>T	c.(421-423)atG>atT	p.M141I	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.M141I	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	141					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.M141I(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTATTCATATGATTCAAGTAA	0.279																																						uc002tvc.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(421-423)ATG>ATT		histamine N-methyltransferase isoform 1	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						33.0	34.0	34.0					2																	138759758		2202	4300	6502	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138759758G>T		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.423G>T	2.37:g.138759758G>T	ENSP00000280097:p.Met141Ile					HNMT_uc002tvf.2_Missense_Mutation_p.M141I	p.M141I	NM_006895	NP_008826	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	5	571	+			141					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.423G>T	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940075	0.73557	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.42513	0.97;0.97	5.9	4.97	0.65823	Methyltransferase type 12 (1);	0.037179	0.85682	D	0.000000	T	0.61677	0.2366	M	0.78637	2.42	0.80722	D	1	D	0.61080	0.989	P	0.61477	0.889	T	0.62077	-0.6930	10	0.45353	T	0.12	-5.9319	14.921	0.70838	0.0:0.1422:0.8578:0.0	.	141	P50135	HNMT_HUMAN	I	141	ENSP00000386940:M141I;ENSP00000280097:M141I	ENSP00000280097:M141I	M	+	3	0	HNMT	138476228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.924000	0.63418	2.788000	0.95919	0.650000	0.86243	ATG		PASS	0.279	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			4	20	4	20	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141108547	141108547	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:141108547G>T	ENST00000389484.3	-	77	12682	c.11711C>A	c.(11710-11712)cCa>cAa	p.P3904Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3904					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P3904Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGTTGAATGGATATATAAA	0.294										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11710-11712)CCA>CAA		low density lipoprotein-related protein 1B							101.0	110.0	107.0					2																	141108547		2203	4298	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108547G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11711C>A	2.37:g.141108547G>T	ENSP00000374135:p.Pro3904Gln	TSP Lung(27;0.18)					p.P3904Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12683	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3904			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11711C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.983054|4.983054	0.93044|0.93044	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90844	.|-2.74	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.067595	.|0.64402	.|D	.|0.000012	D|D	0.94729|0.94729	0.8299|0.8299	M|M	0.73217|0.73217	2.22|2.22	0.54753|0.54753	D|D	0.999985|0.999985	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.92008|0.92008	0.5616|0.5616	5|10	.|0.19147	.|T	.|0.46	.|.	19.8575|19.8575	0.96767|0.96767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3904	.|Q9NZR2	.|LRP1B_HUMAN	N|Q	136|3904;3842	.|ENSP00000374135:P3904Q	.|ENSP00000374135:P3904Q	H|P	-|-	1|2	0|0	LRP1B|LRP1B	140825017|140825017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.331000|9.331000	0.96430|0.96430	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	CAT|CCA		PASS	0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	104	20	104	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141459804	141459804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:141459804C>A	ENST00000389484.3	-	39	7179	c.6208G>T	c.(6208-6210)Gag>Tag	p.E2070*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2070					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E2070*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCCAGTCTCAAGGTCGATT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Nonsense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6208-6210)GAG>TAG		low density lipoprotein-related protein 1B							201.0	177.0	186.0					2																	141459804		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459804C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6208G>T	2.37:g.141459804C>A	ENSP00000374135:p.Glu2070*	TSP Lung(27;0.18)					p.E2070*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	39	7180	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2070			Extracellular (Potential).|LDL-receptor class B 22.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.6208G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	53	20.923612	0.99935	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.49	5.49	0.81192	.	0.075055	0.52532	U	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.3684	0.94473	0.0:1.0:0.0:0.0	.	.	.	.	X	2070;2008	.	ENSP00000374135:E2070X	E	-	1	0	LRP1B	141176274	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.973000	0.70456	2.582000	0.87167	0.557000	0.71058	GAG		PASS	0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	71	27	71	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	142012191	142012191	+	Silent	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:142012191T>C	ENST00000389484.3	-	4	1334	c.363A>G	c.(361-363)caA>caG	p.Q121Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	121	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Q121Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTCAGCTGTTGGCAATTGG	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(361-363)CAA>CAG		low density lipoprotein-related protein 1B							120.0	106.0	110.0					2																	142012191		2201	4297	6498	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142012191T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.363A>G	2.37:g.142012191T>C		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.Q121Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	4	1335	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	121			Extracellular (Potential).|EGF-like 1.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.363A>G	CCDS2182.1																																																																																				PASS	0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	39	7	39	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144899453	144899453	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:144899453T>A	ENST00000392869.2	-	5	669	c.517A>T	c.(517-519)Agc>Tgc	p.S173C	GTDC1_ENST00000392867.3_Missense_Mutation_p.S173C|GTDC1_ENST00000241391.5_Missense_Mutation_p.S173C|GTDC1_ENST00000463875.2_Missense_Mutation_p.S44C|GTDC1_ENST00000409298.1_Missense_Mutation_p.S173C|GTDC1_ENST00000542155.1_Missense_Mutation_p.S173C|GTDC1_ENST00000409214.1_Missense_Mutation_p.S173C|GTDC1_ENST00000344850.4_Missense_Mutation_p.S173C	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	173					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.S173C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ACTGACCTGCTCACATCAGGA	0.368																																						uc002tvp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(517-519)AGC>TGC		glycosyltransferase-like domain containing 1							91.0	91.0	91.0					2																	144899453		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144899453T>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.517A>T	2.37:g.144899453T>A	ENSP00000376608:p.Ser173Cys					GTDC1_uc002tvo.2_Missense_Mutation_p.S173C|GTDC1_uc002tvq.2_Missense_Mutation_p.S173C|GTDC1_uc002tvr.2_Missense_Mutation_p.S173C|GTDC1_uc010fnn.2_Missense_Mutation_p.S173C|GTDC1_uc002tvs.2_Missense_Mutation_p.S141C|GTDC1_uc010fno.2_Missense_Mutation_p.S44C|GTDC1_uc002tvt.1_Missense_Mutation_p.S173C	p.S173C	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	6	796	-			173					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.517A>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967321	0.92855	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875;ENST00000437114	T;T;T;T;T;T;T;T;T	0.79940	0.75;0.75;0.72;-1.32;0.75;0.72;0.75;0.72;0.7	6.17	6.17	0.99709	.	0.125089	0.64402	D	0.000001	D	0.87931	0.6302	L	0.58101	1.795	0.54753	D	0.999985	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.994;0.999	D;D;D;P;D	0.70016	0.911;0.965;0.962;0.751;0.967	D	0.88609	0.3155	10	0.72032	D	0.01	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	173;173;173;173;173	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;.;GTDC1_HUMAN;.	C	173;173;173;173;173;173;173;44;173	ENSP00000376608:S173C;ENSP00000386581:S173C;ENSP00000376606:S173C;ENSP00000386691:S173C;ENSP00000438323:S173C;ENSP00000241391:S173C;ENSP00000339750:S173C;ENSP00000437964:S44C;ENSP00000403869:S173C	ENSP00000241391:S173C	S	-	1	0	GTDC1	144615923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.744000	0.62118	2.371000	0.80710	0.533000	0.62120	AGC		PASS	0.368	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		18	58	18	58	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148680584	148680584	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:148680584G>T	ENST00000241416.7	+	9	1756	c.1120G>T	c.(1120-1122)Gct>Tct	p.A374S	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A374S|ACVR2A_ENST00000535787.1_Missense_Mutation_p.A266S	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.A374S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATTAGAGGGTGCTATAAACTT	0.408																																						uc002twg.2																			1	Substitution - Missense(1)		lung(1)	stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(1120-1122)GCT>TCT		activin A receptor, type IIA precursor							190.0	193.0	192.0					2																	148680584		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148680584G>T		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1120G>T	2.37:g.148680584G>T	ENSP00000241416:p.Ala374Ser					ACVR2A_uc010zbn.1_Missense_Mutation_p.A266S|ACVR2A_uc002twh.2_Missense_Mutation_p.A374S	p.A374S	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1389	+			374			Cytoplasmic (Potential).|Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1120G>T	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652643	0.88056	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.93133	-3.17;-3.17;-3.17	5.65	5.65	0.86999	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	0.94112	0.8112	L	0.41632	1.29	0.80722	D	1	P	0.49635	0.926	P	0.56216	0.794	D	0.92833	0.6282	10	0.39692	T	0.17	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	374	P27037	AVR2A_HUMAN	S	374;266;374	ENSP00000241416:A374S;ENSP00000439988:A266S;ENSP00000384338:A374S	ENSP00000241416:A374S	A	+	1	0	ACVR2A	148397054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.629000	0.98417	2.941000	0.99782	0.655000	0.94253	GCT		PASS	0.408	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		38	125	38	125	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160335088	160335088	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:160335088C>T	ENST00000392783.2	-	3	638	c.143G>A	c.(142-144)tGt>tAt	p.C48Y	BAZ2B_ENST00000392782.1_Missense_Mutation_p.C48Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.C48Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C48Y|BAZ2B_ENST00000483316.1_5'UTR	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C48Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTATTCACCACATGGGTTGAT	0.358																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(142-144)TGT>TAT		bromodomain adjacent to zinc finger domain, 2B							131.0	127.0	128.0					2																	160335088		1859	4102	5961	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160335088C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.143G>A	2.37:g.160335088C>T	ENSP00000376534:p.Cys48Tyr					BAZ2B_uc002uap.2_Missense_Mutation_p.C48Y|BAZ2B_uc002uas.1_Missense_Mutation_p.C48Y|BAZ2B_uc002uau.1_Missense_Mutation_p.C48Y|BAZ2B_uc002uat.3_Missense_Mutation_p.C48Y|BAZ2B_uc010fop.1_Missense_Mutation_p.C48Y	p.C48Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			3	495	-			48					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.143G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985124	0.53934	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335;ENST00000541068;ENST00000437839	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.78	5.78	0.91487	.	0.000000	0.33691	U	0.004645	T	0.56156	0.1966	L	0.47716	1.5	0.45867	D	0.998721	D;D;D;D;D	0.71674	0.986;0.997;0.998;0.997;0.995	P;D;D;D;D	0.80764	0.742;0.994;0.984;0.994;0.986	T	0.54423	-0.8296	10	0.87932	D	0	-0.5414	19.1458	0.93467	0.0:1.0:0.0:0.0	.	48;48;48;48;48	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	Y	48	ENSP00000376533:C48Y;ENSP00000376534:C48Y;ENSP00000348087:C48Y;ENSP00000339670:C48Y;ENSP00000441341:C48Y;ENSP00000415613:C48Y	ENSP00000339670:C48Y	C	-	2	0	BAZ2B	160043334	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.220000	0.65267	2.894000	0.99253	0.591000	0.81541	TGT		PASS	0.358	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			38	110	38	110	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168101642	168101642	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:168101642C>A	ENST00000409195.1	+	9	3829	c.3740C>A	c.(3739-3741)cCa>cAa	p.P1247Q	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1025Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1247Q|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1072					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P1247Q(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAACCAACCAATTGATAAG	0.348																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(3739-3741)CCA>CAA		xin actin-binding repeat containing 2 isoform 1							98.0	94.0	95.0					2																	168101642		1830	4081	5911	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101642C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3740C>A	2.37:g.168101642C>A	ENSP00000386840:p.Pro1247Gln					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P1072Q|XIRP2_uc010fpq.2_Missense_Mutation_p.P1025Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.P1247Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3758	+			1072			Xin 20.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3740C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422949	0.43020	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.55760	0.5;0.5;0.5	5.63	5.63	0.86233	.	0.116744	0.64402	D	0.000014	T	0.69940	0.3167	M	0.72894	2.215	0.41256	D	0.986745	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.962	T	0.73007	-0.4118	10	0.87932	D	0	-13.6774	11.8864	0.52604	0.0:0.919:0.0:0.081	.	1072;1072;1025	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	1247;1247;1025	ENSP00000386840:P1247Q;ENSP00000295237:P1247Q;ENSP00000387255:P1025Q	ENSP00000295237:P1247Q	P	+	2	0	XIRP2	167809888	0.021000	0.18746	0.999000	0.59377	0.857000	0.48899	2.477000	0.45180	2.664000	0.90586	0.563000	0.77884	CCA		PASS	0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	35	17	35	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	169993938	169993938	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:169993938G>A	ENST00000263816.3	-	76	13869	c.13584C>T	c.(13582-13584)gcC>gcT	p.A4528A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4528					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A4528A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACTGTCTCTGGCTGAGTACA	0.438																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(13582-13584)GCC>GCT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						197.0	185.0	189.0					2																	169993938		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169993938G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13584C>T	2.37:g.169993938G>A							p.A4528A	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	76	13797	-			4528			Cytoplasmic (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.13584C>T	CCDS2232.1																																																																																				PASS	0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		16	51	16	51	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170127511	170127511	+	Silent	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:170127511A>G	ENST00000263816.3	-	16	2508	c.2223T>C	c.(2221-2223)tcT>tcC	p.S741S	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	741					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S741S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CGACAAAGAAAGAAGGATTCC	0.418																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2221-2223)TCT>TCC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						129.0	115.0	120.0					2																	170127511		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170127511A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2223T>C	2.37:g.170127511A>G						LRP2_uc010zdf.1_Intron	p.S741S	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2436	-			741			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.2223T>C	CCDS2232.1																																																																																				PASS	0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	34	11	34	---	---	---	---
HOXD12	3238	broad.mit.edu	37	2	176964863	176964863	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:176964863C>T	ENST00000406506.2	+	1	406	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	HOXD12_ENST00000404162.2_Missense_Mutation_p.R112C			P35452	HXD12_HUMAN	homeobox D12	112					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.R112C(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCCAGAGGAGCGCGGTCGTAC	0.672																																						uc010zev.1																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)CGC>TGC		homeobox D12							15.0	17.0	17.0					2																	176964863		1894	4115	6009	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964863C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.334C>T	2.37:g.176964863C>T	ENSP00000385586:p.Arg112Cys					HOXD12_uc010zew.1_Missense_Mutation_p.R112C	p.R112C	NM_021193	NP_067016	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	334	+			112					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.334C>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798865	0.31777	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.42900	0.96;0.96	5.22	4.33	0.51752	.	0.519927	0.19604	N	0.110303	T	0.62295	0.2416	M	0.83012	2.62	0.45272	D	0.998271	D;D	0.89917	1.0;0.998	D;P	0.65773	0.938;0.819	T	0.64162	-0.6472	10	0.59425	D	0.04	.	8.7629	0.34685	0.2181:0.6454:0.1365:0.0	.	112;112	B5MCD3;P35452	.;HXD12_HUMAN	C	112	ENSP00000385586:R112C;ENSP00000385132:R112C	ENSP00000385132:R112C	R	+	1	0	HOXD12	176673109	0.982000	0.34865	0.201000	0.23476	0.211000	0.24417	0.832000	0.27490	1.177000	0.42855	0.655000	0.94253	CGC		PASS	0.672	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		6	14	6	14	---	---	---	---
HOXD10	3236	broad.mit.edu	37	2	176981724	176981724	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:176981724C>A	ENST00000249501.4	+	1	418	c.163C>A	c.(163-165)Ccg>Acg	p.P55T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	55					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P55T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGGACTGCTCCCGTCTCTGGC	0.488																																						uc002ukj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(163-165)CCG>ACG		homeobox D10							111.0	110.0	110.0					2																	176981724		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981724C>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.163C>A	2.37:g.176981724C>A	ENSP00000249501:p.Pro55Thr						p.P55T	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	233	+			55					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.163C>A	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187770	0.57909	.	.	ENSG00000128710	ENST00000249501	T	0.47177	0.85	5.84	5.84	0.93424	.	0.047964	0.85682	D	0.000000	T	0.55641	0.1933	M	0.76574	2.34	0.80722	D	1	P	0.51147	0.942	B	0.43194	0.411	T	0.63453	-0.6634	10	0.87932	D	0	.	19.7484	0.96259	0.0:1.0:0.0:0.0	.	55	P28358	HXD10_HUMAN	T	55	ENSP00000249501:P55T	ENSP00000249501:P55T	P	+	1	0	HOXD10	176689970	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.765000	0.68834	2.758000	0.94735	0.655000	0.94253	CCG		PASS	0.488	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			11	46	11	46	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179226430	179226430	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:179226430C>T	ENST00000190611.4	+	13	1551	c.1175C>T	c.(1174-1176)gCa>gTa	p.A392V	OSBPL6_ENST00000315022.2_Missense_Mutation_p.A396V|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A417V|OSBPL6_ENST00000409045.3_Missense_Mutation_p.A361V|OSBPL6_ENST00000357080.4_Missense_Mutation_p.A361V|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A392V|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A392V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	392					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.A392V(1)|p.A417V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTGAAGTCTGCATTTAATAGC	0.438																																						uc002ulx.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1174-1176)GCA>GTA		oxysterol-binding protein-like protein 6 isoform							104.0	98.0	100.0					2																	179226430		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179226430C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1175C>T	2.37:g.179226430C>T	ENSP00000190611:p.Ala392Val					OSBPL6_uc002ulw.2_Missense_Mutation_p.A361V|OSBPL6_uc002uly.2_Missense_Mutation_p.A417V|OSBPL6_uc010zfe.1_Missense_Mutation_p.A361V|OSBPL6_uc002ulz.2_Missense_Mutation_p.A392V|OSBPL6_uc002uma.2_Missense_Mutation_p.A396V	p.A392V	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		13	1553	+			392					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1175C>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303136	0.60195	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.11712	2.75;2.75;3.08;2.83;2.82;2.75;2.76	5.56	5.56	0.83823	.	0.155084	0.56097	D	0.000021	T	0.24928	0.0605	L	0.42487	1.325	0.80722	D	1	B;D;D;D;P;D	0.67145	0.088;0.981;0.996;0.981;0.952;0.99	B;P;D;P;P;P	0.70935	0.079;0.886;0.971;0.886;0.612;0.783	T	0.01834	-1.1264	10	0.15952	T	0.53	-12.5542	19.1402	0.93444	0.0:1.0:0.0:0.0	.	361;396;392;417;392;361	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	V	417;392;361;361;392;392;396	ENSP00000376293:A417V;ENSP00000352713:A392V;ENSP00000349591:A361V;ENSP00000387248:A361V;ENSP00000190611:A392V;ENSP00000386885:A392V;ENSP00000318723:A396V	ENSP00000190611:A392V	A	+	2	0	OSBPL6	178934676	1.000000	0.71417	0.884000	0.34674	0.948000	0.59901	6.262000	0.72514	2.629000	0.89072	0.655000	0.94253	GCA		PASS	0.438	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		21	85	21	85	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179588005	179588005	+	Silent	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:179588005T>A	ENST00000591111.1	-	73	21002	c.20778A>T	c.(20776-20778)ccA>ccT	p.P6926P	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.P5999P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.P7243P			Q8WZ42	TITIN_HUMAN	titin	12514	Ig-like 51.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P5999P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGACTTCCCTGGTTCTACAG	0.388																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17995-17997)CCA>CCT		titin isoform N2-A							101.0	95.0	97.0					2																	179588005		1873	4105	5978	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588005T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20778A>T	2.37:g.179588005T>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P2660P	p.P5999P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		72	18221	-			6926					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.17997A>T																																																																																					PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	26	6	26	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179613192	179613192	+	Intron	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:179613192A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Silent_p.Y4645Y|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron			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)			TTTTTTCTTTATAATGTATTT	0.353																																						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.(13933-13935)TAT>TAC		titin isoform novex-3							80.0	90.0	87.0					2																	179613192		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613192A>G	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+4658T>C	2.37:g.179613192A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.Y4645Y	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14159	-			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.13935T>C																																																																																					PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	141	12	141	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182774642	182774642	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:182774642G>T	ENST00000431877.2	+	9	1609	c.1430G>T	c.(1429-1431)gGa>gTa	p.G477V	SSFA2_ENST00000409001.1_Missense_Mutation_p.G477V|SSFA2_ENST00000409136.1_5'Flank|SSFA2_ENST00000428267.2_Missense_Mutation_p.G324V|SSFA2_ENST00000320370.7_Missense_Mutation_p.G477V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	477						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G477V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGTACGGAGGGAGAAGCTCCT	0.363																																						uc002uoi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1429-1431)GGA>GTA		sperm specific antigen 2 isoform 1							71.0	63.0	65.0					2																	182774642		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182774642G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1430G>T	2.37:g.182774642G>T	ENSP00000388731:p.Gly477Val					SSFA2_uc002uoh.2_Missense_Mutation_p.G477V|SSFA2_uc002uoj.2_Missense_Mutation_p.G477V|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.G324V|SSFA2_uc002uol.2_Missense_Mutation_p.G324V	p.G477V	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		9	1752	+			477					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1430G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355056	0.82243	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.16073	2.61;2.37;2.6;2.61	5.98	5.98	0.97165	.	0.315132	0.32901	N	0.005501	T	0.43853	0.1266	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.06180	-1.0841	10	0.45353	T	0.12	-24.42	18.6367	0.91380	0.0:0.0:1.0:0.0	.	324;477;477;477	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	V	477;477;477;324	ENSP00000388731:G477V;ENSP00000314669:G477V;ENSP00000387319:G477V;ENSP00000409867:G324V	ENSP00000314669:G477V	G	+	2	0	SSFA2	182482887	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.660000	0.61511	2.847000	0.97988	0.591000	0.81541	GGA		PASS	0.363	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		12	31	12	31	---	---	---	---
DUSP19	142679	broad.mit.edu	37	2	183960174	183960174	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:183960174G>C	ENST00000354221.4	+	4	617	c.442G>C	c.(442-444)Gtt>Ctt	p.V148L	AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Missense_Mutation_p.V97L|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	148	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.V148L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AGTGGTTCTTGTTCATTGTAA	0.333																																						uc002upd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(442-444)GTT>CTT		dual specificity phosphatase 19 isoform 1							118.0	124.0	122.0					2																	183960174		2203	4300	6503	SO:0001583	missense	142679				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	g.chr2:183960174G>C	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.442G>C	2.37:g.183960174G>C	ENSP00000346160:p.Val148Leu					DUSP19_uc010frp.2_Missense_Mutation_p.V97L|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_Missense_Mutation_p.L108F	p.V148L	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN			4	817	+			148			Tyrosine-protein phosphatase.		B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	c.442G>C	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144818	0.77888	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	T;T	0.76186	-1.0;-1.0	5.8	4.93	0.64822	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.80422	2.495	0.80722	D	1	P;P	0.44627	0.839;0.632	P;P	0.55667	0.781;0.656	D	0.85090	0.0951	10	0.49607	T	0.09	.	14.9736	0.71251	0.0686:0.0:0.9314:0.0	.	97;148	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	L	97;148	ENSP00000343905:V97L;ENSP00000346160:V148L	ENSP00000343905:V97L	V	+	1	0	DUSP19	183668419	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.039000	0.57325	1.457000	0.47850	0.591000	0.81541	GTT		PASS	0.333	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			28	66	28	66	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202136259	202136259	+	Nonsense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:202136259C>G	ENST00000432109.2	+	4	515	c.326C>G	c.(325-327)tCa>tGa	p.S109*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.S141*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.S109*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.S109*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.S168*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.S109*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S109*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.S109*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	109	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.S141*(4)|p.S168*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TATCAGATTTCAGAAGAAGTG	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1																			6	Substitution - Nonsense(6)		cervix(3)|lung(3)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(325-327)TCA>TGA		caspase 8 isoform B precursor							126.0	126.0	126.0					2																	202136259		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202136259C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.326C>G	2.37:g.202136259C>G	ENSP00000412523:p.Ser109*	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxo.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxp.1_Nonsense_Mutation_p.S141*|CASP8_uc002uxq.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxs.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxt.1_Nonsense_Mutation_p.S168*|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Nonsense_Mutation_p.S6*|CASP8_uc002uxv.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxw.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxy.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxx.1_Nonsense_Mutation_p.S109*|CASP8_uc010ftf.2_Nonsense_Mutation_p.S109*|CASP8_uc010fte.1_Nonsense_Mutation_p.S6*	p.S109*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			4	535	+			109			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.326C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701361	0.30142	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	4.71	2.91	0.33838	.	0.709600	0.13250	N	0.402162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	6.9251	0.24410	0.0:0.7193:0.154:0.1267	.	.	.	.	X	109;109;109;109;109;141;6;109;109;109;168;109;109;109;109	.	ENSP00000264274:S109X	S	+	2	0	CASP8	201844504	0.999000	0.42202	0.995000	0.50966	0.028000	0.11728	2.426000	0.44731	0.586000	0.29626	0.563000	0.77884	TCA		PASS	0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		14	37	14	37	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207170435	207170435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:207170435C>T	ENST00000374423.3	+	5	1569	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	395							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q395*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCAAATTGACCAAGAAGATAA	0.398																																						uc002vbp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(1183-1185)CAA>TAA		zinc finger, DBF-type containing 2							103.0	102.0	102.0					2																	207170435		1874	4113	5987	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207170435C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1183C>T	2.37:g.207170435C>T	ENSP00000363545:p.Gln395*						p.Q395*	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	1433	+			395					Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.1183C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	37	6.201060	0.97371	.	.	ENSG00000204186	ENST00000374423	.	.	.	3.94	0.96	0.19631	.	0.760833	0.10763	N	0.636906	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.7437	0.18108	0.0:0.5008:0.3892:0.11	.	.	.	.	X	395	.	ENSP00000363545:Q395X	Q	+	1	0	ZDBF2	206878680	.	.	0.249000	0.24280	0.269000	0.26545	.	.	0.187000	0.20147	0.555000	0.69702	CAA		PASS	0.398	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		7	32	7	32	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214794706	214794706	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:214794706A>G	ENST00000331683.5	+	12	1332	c.1237A>G	c.(1237-1239)Agt>Ggt	p.S413G	SPAG16_ENST00000374309.3_Missense_Mutation_p.S319G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	413					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.S413G(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCTACTTCAAGTGGTGACAC	0.378																																						uc002veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1237-1239)AGT>GGT		sperm associated antigen 16 isoform 1							108.0	107.0	108.0					2																	214794706		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794706A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1237A>G	2.37:g.214794706A>G	ENSP00000332592:p.Ser413Gly					SPAG16_uc010fuz.1_Missense_Mutation_p.S264G|SPAG16_uc002ver.2_Missense_Mutation_p.S359G|SPAG16_uc010zjk.1_Missense_Mutation_p.S319G	p.S413G	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1329	+		Renal(323;0.00461)	413			WD 2.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1237A>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999635	0.35320	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.70986	-0.53;-0.53	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.312480	0.30177	N	0.010221	T	0.75568	0.3867	L	0.58969	1.84	0.39312	D	0.965097	P;P;B;P	0.48089	0.905;0.884;0.378;0.592	P;P;B;P	0.55667	0.781;0.509;0.439;0.688	T	0.76849	-0.2807	10	0.44086	T	0.13	.	9.7386	0.40404	0.8456:0.0:0.0:0.1544	.	319;264;353;413	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	G	413;319	ENSP00000332592:S413G;ENSP00000363428:S319G	ENSP00000332592:S413G	S	+	1	0	SPAG16	214502951	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.561000	0.53770	2.061000	0.61500	0.533000	0.62120	AGT		PASS	0.378	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		33	86	33	86	---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217279579	217279579	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:217279579A>C	ENST00000357276.4	+	3	482	c.152A>C	c.(151-153)cAa>cCa	p.Q51P	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q51P|AC098820.2_ENST00000457694.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	51					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.Q51P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGGCCAAGCAAGGCCCATCC	0.512									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(151-153)CAA>CCA		SWI/SNF-related matrix-associated							113.0	126.0	122.0					2																	217279579		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279579A>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.152A>C	2.37:g.217279579A>C	ENSP00000349823:p.Gln51Pro					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.Q51P|SMARCAL1_uc010fvg.2_Missense_Mutation_p.Q51P	p.Q51P	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	482	+		Renal(323;0.0458)	51					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.152A>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	A	9.979	1.227510	0.22542	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	4.75	0.532	0.17114	.	0.648561	0.14204	N	0.334484	T	0.17619	0.0423	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.27331	-1.0077	10	0.87932	D	0	-1.3991	12.153	0.54059	0.5047:0.4953:0.0:0.0	.	51	Q9NZC9	SMAL1_HUMAN	P	51	ENSP00000405077:Q51P;ENSP00000349823:Q51P;ENSP00000398969:Q51P;ENSP00000350940:Q51P;ENSP00000402967:Q51P	ENSP00000349823:Q51P	Q	+	2	0	SMARCAL1	216987824	0.647000	0.27304	0.062000	0.19696	0.037000	0.13140	2.040000	0.41203	0.266000	0.21894	-0.460000	0.05396	CAA		PASS	0.512	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			24	77	24	77	---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217279581	217279581	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:217279581G>C	ENST00000357276.4	+	3	484	c.154G>C	c.(154-156)Ggc>Cgc	p.G52R	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.G52R|AC098820.2_ENST00000457694.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	52					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.G52R(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GGCCAAGCAAGGCCCATCCCA	0.512									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(154-156)GGC>CGC		SWI/SNF-related matrix-associated							113.0	126.0	122.0					2																	217279581		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279581G>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.154G>C	2.37:g.217279581G>C	ENSP00000349823:p.Gly52Arg					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.G52R|SMARCAL1_uc010fvg.2_Missense_Mutation_p.G52R	p.G52R	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	484	+		Renal(323;0.0458)	52					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.154G>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827353	0.50739	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.85	-1.35	0.09114	.	1.482590	0.03817	N	0.266849	T	0.21881	0.0527	L	0.32530	0.975	0.09310	N	1	P	0.46706	0.883	B	0.42555	0.391	T	0.32322	-0.9911	10	0.66056	D	0.02	0.0282	6.9492	0.24536	0.4455:0.1152:0.4393:0.0	.	52	Q9NZC9	SMAL1_HUMAN	R	52	ENSP00000405077:G52R;ENSP00000349823:G52R;ENSP00000398969:G52R;ENSP00000350940:G52R;ENSP00000402967:G52R	ENSP00000349823:G52R	G	+	1	0	SMARCAL1	216987826	0.299000	0.24426	0.000000	0.03702	0.032000	0.12392	0.168000	0.16622	-0.208000	0.10171	0.563000	0.77884	GGC		PASS	0.512	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			22	82	22	82	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219890788	219890788	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:219890788C>T	ENST00000341552.5	-	14	2388	c.2305G>A	c.(2305-2307)Ggc>Agc	p.G769S	CCDC108_ENST00000453220.1_Missense_Mutation_p.G769S|CCDC108_ENST00000441968.1_Missense_Mutation_p.G769S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	769						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.G769S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCAAAGCCAGCGAAATAG	0.592																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2305-2307)GGC>AGC		coiled-coil domain containing 108 isoform 1							87.0	78.0	81.0					2																	219890788		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219890788C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2305G>A	2.37:g.219890788C>T	ENSP00000340776:p.Gly769Ser						p.G769S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2389	-		Renal(207;0.0915)	769					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2305G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	8.708	0.911424	0.17833	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05139	3.49;3.49;3.49	4.87	-0.422	0.12329	.	2.060120	0.02337	N	0.074486	T	0.05777	0.0151	L	0.38175	1.15	0.09310	N	1	B	0.24882	0.113	B	0.23716	0.048	T	0.38802	-0.9644	10	0.11794	T	0.64	-0.8237	5.3996	0.16288	0.339:0.4635:0.0:0.1975	.	769	Q6ZU64	CC108_HUMAN	S	769	ENSP00000340776:G769S;ENSP00000413377:G769S;ENSP00000409117:G769S	ENSP00000340776:G769S	G	-	1	0	CCDC108	219599032	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.011000	0.12721	-0.021000	0.14009	0.561000	0.74099	GGC		PASS	0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	51	4	51	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225669970	225669970	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:225669970C>A	ENST00000258390.7	-	36	4071	c.4004G>T	c.(4003-4005)aGg>aTg	p.R1335M	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1329M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1335					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.R1333M(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)		CAGGAGACTCCTGGTTTCTGC	0.363																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4003-4005)AGG>ATG		dedicator of cytokinesis 10							130.0	124.0	126.0					2																	225669970		1841	4083	5924	SO:0001583	missense	55619						GTP binding	g.chr2:225669970C>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.4004G>T	2.37:g.225669970C>A	ENSP00000258390:p.Arg1335Met					DOCK10_uc002vob.2_Missense_Mutation_p.R1329M|DOCK10_uc002voa.2_Translation_Start_Site|DOCK10_uc002voc.2_Missense_Mutation_p.R189M	p.R1335M	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)	36	4243	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1335					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4004G>T	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973832|3.973832	0.74246|0.74246	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.02085	.|4.46;4.46	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.14917	.|0.0360	M|M	0.78637|0.78637	2.42|2.42	0.41888|0.41888	D|D	0.990353|0.990353	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.85130	.|0.997;0.993;0.99	.|T	.|0.00018	.|-1.2367	.|10	.|0.87932	.|D	.|0	.|.	20.2825|20.2825	0.98528|0.98528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1335;189;1329	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	X|M	217|1329;1335	.|ENSP00000386694:R1329M;ENSP00000258390:R1335M	.|ENSP00000258390:R1335M	G|R	-|-	1|2	0|0	DOCK10|DOCK10	225378214|225378214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.230000|7.230000	0.78097|0.78097	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGA|AGG		PASS	0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			31	107	31	107	---	---	---	---
GPR55	9290	broad.mit.edu	37	2	231775562	231775562	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:231775562A>T	ENST00000392040.1	-	2	308	c.116T>A	c.(115-117)cTg>cAg	p.L39Q	GPR55_ENST00000392039.2_Missense_Mutation_p.L39Q|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	39					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.L39Q(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GATGGCCAGCAGGTTGAGGAG	0.552																																						uc002vrg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)CTG>CAG		G protein-coupled receptor 55							96.0	90.0	92.0					2																	231775562		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775562A>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.116T>A	2.37:g.231775562A>T	ENSP00000375894:p.Leu39Gln					GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.L39Q	p.L39Q	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	309	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	39			Helical; Name=1; (Potential).		Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.116T>A	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447180	0.63178	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.45276	0.9;0.9;0.9	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.683109	0.14063	N	0.343902	T	0.54902	0.1887	L	0.60455	1.87	0.33585	D	0.600376	P	0.48911	0.917	P	0.54759	0.76	T	0.66110	-0.6005	10	0.56958	D	0.05	-2.0009	13.3571	0.60633	1.0:0.0:0.0:0.0	.	39	Q9Y2T6	GPR55_HUMAN	Q	39	ENSP00000375894:L39Q;ENSP00000375893:L39Q;ENSP00000412768:L39Q	ENSP00000375893:L39Q	L	-	2	0	GPR55	231483806	0.000000	0.05858	0.990000	0.47175	0.818000	0.46254	0.446000	0.21694	2.043000	0.60533	0.477000	0.44152	CTG		PASS	0.552	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		13	59	13	59	---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233199087	233199087	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:233199087G>A	ENST00000409307.1	+	17	2167	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	DIS3L2_ENST00000325385.7_Missense_Mutation_p.E723K|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2									p.E723K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGGCTATAGGGAGCGACTAGA	0.652																																						uc010fxz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2167-2169)GAG>AAG		DIS3 mitotic control homolog (S.							54.0	59.0	58.0					2																	233199087		1987	4159	6146	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233199087G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2167G>A	2.37:g.233199087G>A	ENSP00000386799:p.Glu723Lys					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	p.E723K	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	18	2443	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	723						Missense_Mutation	SNP	ENST00000409307.1	37	c.2167G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	g	11.75	1.731506	0.30684	.	.	ENSG00000144535	ENST00000325385;ENST00000409307;ENST00000424049	T;T;T	0.40756	1.02;1.02;1.02	3.93	0.821	0.18799	.	0.767146	0.11555	U	0.552419	T	0.23886	0.0578	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.17433	0.018	T	0.27739	-1.0065	10	0.08381	T	0.77	-3.7162	1.6388	0.02748	0.159:0.352:0.3096:0.1795	.	723	Q8IYB7	DI3L2_HUMAN	K	723;723;358	ENSP00000315569:E723K;ENSP00000386799:E723K;ENSP00000415419:E358K	ENSP00000315569:E723K	E	+	1	0	DIS3L2	232907331	0.000000	0.05858	0.021000	0.16686	0.017000	0.09413	0.079000	0.14782	0.216000	0.20781	0.449000	0.29647	GAG		PASS	0.652	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		4	17	4	17	---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233406092	233406092	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr2:233406092G>A	ENST00000389494.3	+	5	380	c.359G>A	c.(358-360)gGt>gAt	p.G120D	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	120					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.G120D(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	AGCGTGGACGGTGTCTTCGAG	0.637																																						uc002vsx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)GGT>GAT		cholinergic receptor, nicotinic, gamma							218.0	174.0	189.0					2																	233406092		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233406092G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.359G>A	2.37:g.233406092G>A	ENSP00000374145:p.Gly120Asp					CHRNG_uc010fyd.2_Missense_Mutation_p.G120D|CHRNG_uc010fye.1_Intron	p.G120D	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	5	380	+		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)	120			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.359G>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020374	0.93462	.	.	ENSG00000196811	ENST00000389494;ENST00000541596	T	0.79940	-1.32	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89515	0.3774	10	0.66056	D	0.02	.	18.6433	0.91402	0.0:0.0:1.0:0.0	.	120	P07510	ACHG_HUMAN	D	120	ENSP00000374145:G120D	ENSP00000374145:G120D	G	+	2	0	CHRNG	233114336	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.976000	0.88070	2.419000	0.82065	0.462000	0.41574	GGT		PASS	0.637	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		25	76	25	76	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	432795	432795	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:432795G>T	ENST00000256509.2	+	22	3386	c.2744G>T	c.(2743-2745)gGa>gTa	p.G915V	CHL1_ENST00000397491.2_Missense_Mutation_p.G899V	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.G915V(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)		AACTCTAAAGGAGCTGGTCCT	0.388																																						uc003bou.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2695-2697)GGA>GTA		cell adhesion molecule with homology to L1CAM							88.0	94.0	92.0					3																	432795		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432795G>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.2744G>T	3.37:g.432795G>T	ENSP00000256509:p.Gly915Val					CHL1_uc003bot.2_Missense_Mutation_p.G915V|CHL1_uc003bow.1_Missense_Mutation_p.G899V|CHL1_uc011asi.1_Missense_Mutation_p.G915V	p.G899V	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	2967	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	899			Fibronectin type-III 3.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2696G>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762481|4.762481	0.89932|0.89932	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|T;T	.|0.64260	.|-0.09;-0.09	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.84092	.|0.5396	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.997;0.997;1.0	.|D	.|0.86599	.|0.1865	.|10	.|0.87932	.|D	.|0	.|.	19.9244|19.9244	0.97099|0.97099	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|899;899;915	.|B3KX75;O00533;O00533-2	.|.;CHL1_HUMAN;.	X|V	102|915;899	.|ENSP00000256509:G915V;ENSP00000380628:G899V	.|ENSP00000256509:G915V	E|G	+|+	1|2	0|0	CHL1|CHL1	407795|407795	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.990000|0.990000	0.78478|0.78478	8.960000|8.960000	0.93117|0.93117	2.712000|2.712000	0.92718|0.92718	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		27	19	27	19	---	---	---	---
FBLN2	2199	broad.mit.edu	37	3	13659585	13659585	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:13659585C>T	ENST00000295760.7	+	6	1808	c.1739C>T	c.(1738-1740)gCa>gTa	p.A580V	FBLN2_ENST00000535798.1_Missense_Mutation_p.A606V|FBLN2_ENST00000404922.3_Missense_Mutation_p.A580V|FBLN2_ENST00000492059.1_Missense_Mutation_p.A580V	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	580					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A580V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTTTCAGAGGCAGAGATGGCG	0.607																																						uc011avb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1738-1740)GCA>GTA		fibulin 2 isoform b precursor							76.0	85.0	82.0					3																	13659585		1975	4161	6136	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659585C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1739C>T	3.37:g.13659585C>T	ENSP00000295760:p.Ala580Val					FBLN2_uc011auz.1_Missense_Mutation_p.A606V|FBLN2_uc011ava.1_Missense_Mutation_p.A580V|FBLN2_uc011avc.1_Missense_Mutation_p.A580V	p.A580V	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		6	1864	+			580					B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1739C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	c	9.560	1.118131	0.20877	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79141	-1.24;-1.2;-1.15;-1.2	4.73	0.578	0.17391	.	1.263970	0.05203	N	0.505374	T	0.59542	0.2201	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.003;0.004;0.004	T	0.40156	-0.9578	10	0.20519	T	0.43	.	5.502	0.16834	0.0:0.5022:0.2537:0.2442	.	580;580;606	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	V	606;580;580;580	ENSP00000445705:A606V;ENSP00000384169:A580V;ENSP00000295760:A580V;ENSP00000420042:A580V	ENSP00000295760:A580V	A	+	2	0	FBLN2	13634586	0.000000	0.05858	0.013000	0.15412	0.577000	0.36160	-0.456000	0.06754	0.072000	0.16694	0.639000	0.83563	GCA		PASS	0.607	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		44	59	44	59	---	---	---	---
TMEM43	79188	broad.mit.edu	37	3	14174420	14174420	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:14174420G>T	ENST00000306077.4	+	6	751	c.497G>T	c.(496-498)gGc>gTc	p.G166V	RP11-434D12.1_ENST00000608606.1_5'Flank	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	166					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G166V(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CGAGAGATTGGCCACAAAAAC	0.522																																						uc003byk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)GGC>GTC		transmembrane protein 43							85.0	90.0	88.0					3																	14174420		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14174420G>T	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.497G>T	3.37:g.14174420G>T	ENSP00000303992:p.Gly166Val					TMEM43_uc003byl.1_Missense_Mutation_p.G46V	p.G166V	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN			6	751	+			166			Lumenal (Potential).		Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.497G>T	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123888	0.77436	.	.	ENSG00000170876	ENST00000306077	T	0.51071	0.72	5.25	4.37	0.52481	.	0.111041	0.64402	D	0.000010	T	0.65739	0.2720	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.72982	0.885;0.979	T	0.68051	-0.5511	10	0.66056	D	0.02	-28.3599	9.4361	0.38639	0.0761:0.1435:0.7804:0.0	.	96;166	Q8TEP9;Q9BTV4	.;TMM43_HUMAN	V	166	ENSP00000303992:G166V	ENSP00000303992:G166V	G	+	2	0	TMEM43	14149421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.513000	0.81739	1.185000	0.42971	0.591000	0.81541	GGC		PASS	0.522	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		23	13	23	13	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18427920	18427920	+	Missense_Mutation	SNP	T	T	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:18427920T>G	ENST00000338745.6	-	8	3124	c.1390A>C	c.(1390-1392)Atc>Ctc	p.I464L	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.I464L|SATB1_ENST00000454909.2_Missense_Mutation_p.I464L	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	464					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I464L(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGTGCTGATGAGGGGGGCA	0.507																																						uc003cbh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1390-1392)ATC>CTC		special AT-rich sequence binding protein 1							157.0	169.0	165.0					3																	18427920		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18427920T>G		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1390A>C	3.37:g.18427920T>G	ENSP00000341024:p.Ile464Leu					SATB1_uc003cbi.2_Missense_Mutation_p.I464L|SATB1_uc003cbj.2_Missense_Mutation_p.I464L	p.I464L	NM_002971	NP_002962	Q01826	SATB1_HUMAN			8	3125	-			464					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.1390A>C	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	8.332	0.826695	0.16749	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.44881	0.91;0.91;0.91	6.17	3.77	0.43336	.	0.129075	0.64402	N	0.000001	T	0.29524	0.0736	N	0.19112	0.55	0.80722	D	1	P;B	0.36599	0.56;0.007	B;B	0.41440	0.357;0.004	T	0.03576	-1.1023	10	0.24483	T	0.36	-10.4875	9.0408	0.36316	0.0:0.065:0.1301:0.8049	.	464;464	Q01826-2;Q01826	.;SATB1_HUMAN	L	464	ENSP00000341024:I464L;ENSP00000399708:I464L;ENSP00000399518:I464L	ENSP00000341024:I464L	I	-	1	0	SATB1	18402924	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	4.264000	0.58859	0.549000	0.28973	0.533000	0.62120	ATC		PASS	0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		17	105	17	105	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554491	19554491	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:19554491C>A	ENST00000328405.2	+	13	2375	c.2109C>A	c.(2107-2109)aaC>aaA	p.N703K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	703					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.N703K(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAACATCAACAAGCGACTCC	0.468																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2107-2109)AAC>AAA		potassium voltage-gated channel, subfamily H,							42.0	40.0	41.0					3																	19554491		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554491C>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2109C>A	3.37:g.19554491C>A	ENSP00000328813:p.Asn703Lys					KCNH8_uc010hex.1_Missense_Mutation_p.N164K	p.N703K	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			13	2304	+			703			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2109C>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	2.860	-0.236450	0.05944	.	.	ENSG00000183960	ENST00000328405	D	0.98362	-4.89	5.44	-1.17	0.09648	.	0.504521	0.13808	N	0.361303	D	0.92782	0.7705	N	0.04018	-0.295	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77688	-0.2494	9	.	.	.	.	17.4349	0.87548	0.0929:0.2095:0.6976:0.0	.	703	Q96L42	KCNH8_HUMAN	K	703	ENSP00000328813:N703K	.	N	+	3	2	KCNH8	19529495	0.968000	0.33430	0.973000	0.42090	0.984000	0.73092	-0.053000	0.11846	-0.615000	0.05679	0.585000	0.79938	AAC		PASS	0.468	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		11	16	11	16	---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713504	30713504	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:30713504A>G	ENST00000295754.5	+	4	1211	c.829A>G	c.(829-831)Aag>Gag	p.K277E	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K302E	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|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)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.K277E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGTGGCAGTCAAGATCTTTCC	0.493																																						uc003ceo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(829-831)AAG>GAG		transforming growth factor, beta receptor II							146.0	138.0	140.0					3																	30713504		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713504A>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.829A>G	3.37:g.30713504A>G	ENSP00000295754:p.Lys277Glu					TGFBR2_uc003cen.2_Missense_Mutation_p.K302E	p.K277E	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1211	+			277	K->R: Abolishes kinase activity, TGF-beta signaling and interaction with DAXX.		Protein kinase.|Cytoplasmic (Potential).	ATP (By similarity).	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.829A>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522414	0.85600	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.99080	-5.4;-5.4	5.26	5.26	0.73747	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	0.99498	0.9821	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98158	1.0445	10	0.87932	D	0	.	15.1776	0.72927	1.0:0.0:0.0:0.0	.	277;302	P37173;D2JYI1	TGFR2_HUMAN;.	E	277;302	ENSP00000295754:K277E;ENSP00000351905:K302E	ENSP00000295754:K277E	K	+	1	0	TGFBR2	30688508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.335000	0.96500	1.971000	0.57363	0.533000	0.62120	AAG		PASS	0.493	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			25	31	25	31	---	---	---	---
CCR4	1233	broad.mit.edu	37	3	32995297	32995297	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:32995297T>A	ENST00000330953.5	+	2	551	c.383T>A	c.(382-384)gTc>gAc	p.V128D		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	128					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.V128D(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATATTCTTTGTCATGCTCATG	0.483																																						uc003cfg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(382-384)GTC>GAC		chemokine (C-C motif) receptor 4							280.0	276.0	277.0					3																	32995297		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995297T>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.383T>A	3.37:g.32995297T>A	ENSP00000332659:p.Val128Asp						p.V128D	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	551	+			128			Helical; Name=3; (Potential).		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.383T>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629363	0.46944	.	.	ENSG00000183813	ENST00000330953	T	0.73258	-0.73	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.304287	0.28067	N	0.016727	T	0.69477	0.3115	L	0.56199	1.76	0.58432	D	0.999999	P	0.37612	0.602	B	0.38156	0.266	T	0.73062	-0.4101	10	0.87932	D	0	.	16.0852	0.81042	0.0:0.0:0.0:1.0	.	128	P51679	CCR4_HUMAN	D	128	ENSP00000332659:V128D	ENSP00000332659:V128D	V	+	2	0	CCR4	32970301	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	GTC		PASS	0.483	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			77	90	77	90	---	---	---	---
EXOG	9941	broad.mit.edu	37	3	38537942	38537942	+	Silent	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:38537942T>A	ENST00000287675.5	+	1	180	c.84T>A	c.(82-84)gcT>gcA	p.A28A	EXOG_ENST00000422077.2_Silent_p.A28A|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	28					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A28A(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TAGTGGGCGCTGCGGGAGCTG	0.657											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cih.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(82-84)GCT>GCA		endo/exonuclease (5'-3'), endonuclease G-like							43.0	44.0	44.0					3																	38537942		2203	4300	6503	SO:0001819	synonymous_variant	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38537942T>A	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.84T>A	3.37:g.38537942T>A			OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Silent_p.A28A|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR	p.A28A	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN			1	180	+			28					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Silent	SNP	ENST00000287675.5	37	c.84T>A	CCDS2680.1																																																																																				PASS	0.657	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		10	22	10	22	---	---	---	---
MYRIP	25924	broad.mit.edu	37	3	40231921	40231921	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:40231921C>T	ENST00000302541.6	+	10	1974	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.P544P|MYRIP_ENST00000444716.1_Silent_p.P544P|MYRIP_ENST00000539167.1_Silent_p.P357P|MYRIP_ENST00000396217.3_Silent_p.P455P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	544	Actin-binding.|Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.P544P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CATCTTCCCCCAGCGCCCAGC	0.602																																						uc003cka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1630-1632)CCC>CCT		myosin VIIA and Rab interacting protein							36.0	37.0	37.0					3																	40231921		2203	4296	6499	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231921C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1632C>T	3.37:g.40231921C>T						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.P544P|MYRIP_uc010hhw.2_Silent_p.P455P|MYRIP_uc011ayz.1_Silent_p.P357P|uc003ckb.2_Intron	p.P544P	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1767	+			544			Myosin-binding.|Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1632C>T	CCDS2689.1																																																																																				PASS	0.602	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		3	35	3	35	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48677267	48677267	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:48677267C>G	ENST00000164024.4	-	34	10031	c.9751G>C	c.(9751-9753)Gcc>Ccc	p.A3251P	CELSR3_ENST00000544264.1_Missense_Mutation_p.A3256P	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3251					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A3251P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGAAAGAGGCAAGGATGGAG	0.602																																						uc003cul.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(9751-9753)GCC>CCC		cadherin EGF LAG seven-pass G-type receptor 3							202.0	212.0	208.0					3																	48677267		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677267C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9751G>C	3.37:g.48677267C>G	ENSP00000164024:p.Ala3251Pro					CELSR3_uc003cuf.1_Missense_Mutation_p.A3349P|CELSR3_uc010hkf.2_Missense_Mutation_p.A541P|CELSR3_uc010hkg.2_Missense_Mutation_p.A1234P	p.A3251P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	10032	-			3251			Cytoplasmic (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9751G>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308542	0.81247	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.75477	-0.94;-0.94	5.31	5.31	0.75309	.	.	.	.	.	T	0.81908	0.4922	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.83697	0.0180	9	0.72032	D	0.01	.	18.9727	0.92721	0.0:1.0:0.0:0.0	.	3256;3251;3349	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	P	3251;3256	ENSP00000164024:A3251P;ENSP00000445694:A3256P	ENSP00000164024:A3251P	A	-	1	0	CELSR3	48652271	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	6.814000	0.75236	2.473000	0.83533	0.561000	0.74099	GCC		PASS	0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		48	57	48	57	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49736430	49736430	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:49736430G>A	ENST00000327697.6	+	10	800	c.656G>A	c.(655-657)gGc>gAc	p.G219D	RNF123_ENST00000432042.1_Missense_Mutation_p.G73D	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	219	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G219D(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTATCACTGGGCACTGCCTTT	0.582																																						uc003cxh.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(655-657)GGC>GAC		ring finger protein 123							101.0	95.0	97.0					3																	49736430		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49736430G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.656G>A	3.37:g.49736430G>A	ENSP00000328287:p.Gly219Asp					RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	p.G219D	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	10	742	+			219			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.656G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890262	0.91889	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.67345	-0.26;-0.26	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89546	0.3796	10	0.72032	D	0.01	-29.1116	17.8045	0.88598	0.0:0.0:1.0:0.0	.	219	Q5XPI4	RN123_HUMAN	D	219;219;73	ENSP00000328287:G219D;ENSP00000392443:G73D	ENSP00000328287:G219D	G	+	2	0	RNF123	49711434	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.110000	0.94302	2.447000	0.82792	0.561000	0.74099	GGC		PASS	0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		43	54	43	54	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52557073	52557073	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:52557073G>C	ENST00000321725.6	+	63	7019	c.6943G>C	c.(6943-6945)Ggt>Cgt	p.G2315R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2315					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G2315R(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGCTTCGTGGGTGACGGGAT	0.602																																						uc003dej.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(6943-6945)GGT>CGT		stabilin 1 precursor							90.0	92.0	92.0					3																	52557073		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557073G>C	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6943G>C	3.37:g.52557073G>C	ENSP00000312946:p.Gly2315Arg					STAB1_uc003dek.1_Missense_Mutation_p.G330R|STAB1_uc003del.2_Missense_Mutation_p.G202R	p.G2315R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	63	7017	+			2315			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6943G>C	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427960	0.83667	.	.	ENSG00000010327	ENST00000321725	D	0.92149	-2.98	5.74	5.74	0.90152	FAS1 domain (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96371	0.8816	M	0.80982	2.52	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96431	0.9319	10	0.87932	D	0	.	19.5294	0.95222	0.0:0.0:1.0:0.0	.	202;2315	B3KSK0;Q9NY15	.;STAB1_HUMAN	R	2315	ENSP00000312946:G2315R	ENSP00000312946:G2315R	G	+	1	0	STAB1	52532113	1.000000	0.71417	0.999000	0.59377	0.593000	0.36681	5.871000	0.69628	2.712000	0.92718	0.561000	0.74099	GGT		PASS	0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		21	43	21	43	---	---	---	---
DCP1A	55802	broad.mit.edu	37	3	53324879	53324879	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:53324879T>A	ENST00000607628.1	-	8	1500	c.1391A>T	c.(1390-1392)cAg>cTg	p.Q464L	RN7SL821P_ENST00000579907.1_RNA|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000606822.1_Missense_Mutation_p.Q426L|DCP1A_ENST00000294241.6_Missense_Mutation_p.Q464L|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	464					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)	p.Q464L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTGGTTCTGCTGCATAGACTG	0.363																																						uc003dgs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)CAG>CTG		DCP1 decapping enzyme homolog A							51.0	52.0	51.0					3																	53324879		1824	4082	5906	SO:0001583	missense	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53324879T>A	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1391A>T	3.37:g.53324879T>A	ENSP00000475920:p.Gln464Leu					DCP1A_uc003dgt.3_RNA	p.Q464L	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	8	1484	-			464					B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37	c.1391A>T																																																																																					PASS	0.363	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		3	5	3	5	---	---	---	---
LRTM1	57408	broad.mit.edu	37	3	54952882	54952882	+	Missense_Mutation	SNP	G	G	T	rs200962085		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:54952882G>T	ENST00000273286.5	-	3	804	c.642C>A	c.(640-642)gaC>gaA	p.D214E	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.D138E|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	214	LRRCT.					integral component of membrane (GO:0016021)		p.D214E(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCTTCCAGGTGTCTGGTGATT	0.502																																						uc003dhl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)GAC>GAA		leucine-rich repeats and transmembrane domains 1							52.0	48.0	49.0					3																	54952882		2203	4299	6502	SO:0001583	missense	57408					integral to membrane		g.chr3:54952882G>T	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.642C>A	3.37:g.54952882G>T	ENSP00000273286:p.Asp214Glu					CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	p.D214E	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	3	776	-			214			Extracellular (Potential).|LRRCT.		Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.642C>A	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	G	0.487	-0.877193	0.02550	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.89746	4.38;-2.56	6.07	1.57	0.23409	Cysteine-rich flanking region, C-terminal (1);	0.277376	0.41823	N	0.000804	T	0.65647	0.2711	N	0.04148	-0.265	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.55179	-0.8181	10	0.02654	T	1	.	1.9334	0.03331	0.1707:0.1103:0.3799:0.339	.	214	Q9HBL6	LRTM1_HUMAN	E	214;138	ENSP00000273286:D214E;ENSP00000419772:D138E	ENSP00000273286:D214E	D	-	3	2	LRTM1	54927922	0.014000	0.17966	0.554000	0.28268	0.737000	0.42083	0.143000	0.16115	0.278000	0.22164	0.655000	0.94253	GAC		PASS	0.502	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		13	16	13	16	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74315693	74315693	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:74315693C>A	ENST00000263665.6	-	21	2952	c.2925G>T	c.(2923-2925)aaG>aaT	p.K975N	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	975	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K975N(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGTTGTGGCCTTGACTTCAA	0.398																																						uc003dpm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2923-2925)AAG>AAT		contactin 3 precursor							330.0	303.0	312.0					3																	74315693		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315693C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2925G>T	3.37:g.74315693C>A	ENSP00000263665:p.Lys975Asn						p.K975N	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	21	3005	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	975			Fibronectin type-III 4.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2925G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421011	0.62622	.	.	ENSG00000113805	ENST00000263665	T	0.51325	0.71	5.41	3.63	0.41609	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.110447	0.64402	D	0.000008	T	0.63920	0.2552	M	0.78049	2.395	0.49798	D	0.999822	P	0.49862	0.929	D	0.66847	0.947	T	0.63005	-0.6733	10	0.62326	D	0.03	.	7.0105	0.24859	0.0:0.6206:0.0:0.3794	.	975	Q9P232	CNTN3_HUMAN	N	975	ENSP00000263665:K975N	ENSP00000263665:K975N	K	-	3	2	CNTN3	74398383	0.996000	0.38824	0.972000	0.41901	0.984000	0.73092	0.381000	0.20619	0.662000	0.31006	-0.145000	0.13849	AAG		PASS	0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		20	165	20	165	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97869025	97869025	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:97869025C>A	ENST00000437310.1	+	1	856	c.796C>A	c.(796-798)Cag>Aag	p.Q266K	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q266K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCATCCCCACAGGCTGATGA	0.433																																						uc003dsg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(796-798)CAG>AAG		olfactory receptor, family 5, subfamily H,							58.0	54.0	55.0					3																	97869025		2203	4299	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97869025C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.796C>A	3.37:g.97869025C>A	ENSP00000401706:p.Gln266Lys						p.Q266K	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	796	+			266			Extracellular (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.796C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.649174	0.00109	.	.	ENSG00000236032	ENST00000437310	T	0.00058	8.79	2.49	0.382	0.16234	GPCR, rhodopsin-like superfamily (1);	1.309920	0.05340	N	0.529863	T	0.00144	0.0004	L	0.31120	0.905	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.18116	-1.0347	10	0.46703	T	0.11	.	4.0737	0.09894	0.2341:0.6133:0.0:0.1526	.	266	A6NHG9	O5H14_HUMAN	K	266	ENSP00000401706:Q266K	ENSP00000401706:Q266K	Q	+	1	0	OR5H14	99351715	0.004000	0.15560	0.050000	0.19076	0.214000	0.24535	0.322000	0.19576	0.292000	0.22492	0.195000	0.17529	CAG		PASS	0.433	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			14	16	14	16	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108163597	108163597	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:108163597C>T	ENST00000273353.3	-	23	2661	c.2605G>A	c.(2605-2607)Gca>Aca	p.A869T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	869						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A869T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGTAATTGTGCACACTCTTCC	0.433																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(2605-2607)GCA>ACA		myosin, heavy polypeptide 15							140.0	133.0	135.0					3																	108163597		1961	4161	6122	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108163597C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2605G>A	3.37:g.108163597C>T	ENSP00000273353:p.Ala869Thr						p.A869T	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			23	2662	-			869			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2605G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	4.056	0.008061	0.07912	.	.	ENSG00000144821	ENST00000273353	D	0.82893	-1.66	4.9	-1.53	0.08611	.	.	.	.	.	T	0.64294	0.2585	N	0.21508	0.67	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.45614	-0.9249	9	0.25106	T	0.35	.	0.6272	0.00788	0.1898:0.2478:0.2078:0.3546	.	869	Q9Y2K3	MYH15_HUMAN	T	869	ENSP00000273353:A869T	ENSP00000273353:A869T	A	-	1	0	MYH15	109646287	0.000000	0.05858	0.004000	0.12327	0.406000	0.30931	-0.010000	0.12743	-0.610000	0.05716	0.650000	0.86243	GCA		PASS	0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		10	79	10	79	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112357103	112357103	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:112357103C>T	ENST00000206423.3	-	2	2603	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	CCDC80_ENST00000439685.2_Silent_p.K550K|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	550	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.K550K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						tcttttttttcttctccttct	0.413																																						uc003dzf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1648-1650)AAG>AAA		steroid-sensitive protein 1 precursor							101.0	86.0	91.0					3																	112357103		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112357103C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1650G>A	3.37:g.112357103C>T						CCDC80_uc011bhv.1_Silent_p.K550K|CCDC80_uc003dzg.2_Silent_p.K550K|CCDC80_uc003dzh.1_Silent_p.K550K	p.K550K	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	1868	-			550			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.1650G>A	CCDS2968.1																																																																																				PASS	0.413	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		6	27	6	27	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113098376	113098376	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:113098376C>T	ENST00000295868.2	-	17	2237	c.2075G>A	c.(2074-2076)aGg>aAg	p.R692K	WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_Missense_Mutation_p.R692K	NM_018338.3	NP_060808.2												p.R692K(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTGTCTCTCCCTCTTTTCAAT	0.353																																						uc003eae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2074-2076)AGG>AAG		WD repeat domain 52 isoform 2							89.0	89.0	89.0					3																	113098376		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113098376C>T																												ENST00000295868.2:c.2075G>A	3.37:g.113098376C>T	ENSP00000295868:p.Arg692Lys						p.R692K	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			17	2121	-			692			Glu-rich.			Missense_Mutation	SNP	ENST00000295868.2	37	c.2075G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702782	0.30232	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.44482	2.81;0.92	5.42	5.42	0.78866	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.53626	0.1808	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.32079	-0.9920	9	0.08599	T	0.76	.	19.0064	0.92852	0.0:1.0:0.0:0.0	.	692	Q96MT7	WDR52_HUMAN	K	692	ENSP00000377428:R692K;ENSP00000295868:R692K	ENSP00000295868:R692K	R	-	2	0	WDR52	114581066	1.000000	0.71417	0.994000	0.49952	0.517000	0.34286	3.449000	0.52950	2.826000	0.97356	0.563000	0.77884	AGG		PASS	0.353	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			8	74	8	74	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119886044	119886044	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:119886044C>A	ENST00000464295.1	-	10	2725	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	GPR156_ENST00000461057.1_Silent_p.R756R|GPR156_ENST00000315843.3_Silent_p.R760R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.R760R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CACAGTAGGGCCGGTGGCAGC	0.567																																						uc011bjf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2278-2280)CGG>CGT		G protein-coupled receptor 156							95.0	108.0	104.0					3																	119886044		2203	4300	6503	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886044C>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2280G>T	3.37:g.119886044C>A						GPR156_uc011bjg.1_Silent_p.R756R	p.R760R	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	2280	-			760			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.2280G>T	CCDS2997.1																																																																																				PASS	0.567	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		37	101	37	101	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120976075	120976075	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:120976075C>T	ENST00000273666.6	+	17	1998	c.1727C>T	c.(1726-1728)cCg>cTg	p.P576L	STXBP5L_ENST00000492541.1_Missense_Mutation_p.P576L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P576L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P576L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P576L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	576					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P576L(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACAAGTCCTCCGTTTCCAGAT	0.388																																						uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(1726-1728)CCG>CTG		syntaxin binding protein 5-like							121.0	118.0	119.0					3																	120976075		1845	4086	5931	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976075C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1727C>T	3.37:g.120976075C>T	ENSP00000273666:p.Pro576Leu					STXBP5L_uc011bji.1_Missense_Mutation_p.P576L	p.P576L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	1867	+			576			WD 9.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1727C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152341	0.57259	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.38560	1.85;1.86;1.64;1.13;1.64;1.87	5.49	5.49	0.81192	WD40 repeat-like-containing domain (1);	0.258368	0.39475	N	0.001354	T	0.32315	0.0825	L	0.50333	1.59	0.58432	D	0.999998	P;P	0.45986	0.783;0.87	B;B	0.24974	0.057;0.057	T	0.36212	-0.9757	10	0.52906	T	0.07	-15.969	16.0667	0.80887	0.1345:0.8655:0.0:0.0	.	576;576	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	L	576	ENSP00000273666:P576L;ENSP00000420019:P576L;ENSP00000419627:P576L;ENSP00000420287:P576L;ENSP00000420666:P576L;ENSP00000420167:P576L	ENSP00000273666:P576L	P	+	2	0	STXBP5L	122458765	0.995000	0.38212	0.992000	0.48379	0.963000	0.63663	3.269000	0.51592	2.732000	0.93576	0.585000	0.79938	CCG		PASS	0.388	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	82	17	82	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122259607	122259607	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:122259607A>T	ENST00000360356.2	-	8	1809	c.1582T>A	c.(1582-1584)Tat>Aat	p.Y528N	PARP9_ENST00000471785.1_Missense_Mutation_p.Y493N|PARP9_ENST00000462315.1_Missense_Mutation_p.Y493N|PARP9_ENST00000492382.1_Missense_Mutation_p.Y73N|PARP9_ENST00000477522.2_Missense_Mutation_p.Y493N	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	528			Y -> C (in dbSNP:rs9851180). {ECO:0000269|PubMed:11110709, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Y528N(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGGGCCTCATACATCTCTTCC	0.453																																						uc010hri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(1582-1584)TAT>AAT		poly (ADP-ribose) polymerase family, member 9							139.0	139.0	139.0					3																	122259607		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259607A>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1582T>A	3.37:g.122259607A>T	ENSP00000353512:p.Tyr528Asn					PARP9_uc003eff.3_Missense_Mutation_p.Y493N|PARP9_uc011bjs.1_Missense_Mutation_p.Y493N|PARP9_uc003efg.2_Missense_Mutation_p.Y73N|PARP9_uc003efi.2_Missense_Mutation_p.Y493N|PARP9_uc003efh.2_Missense_Mutation_p.Y528N|PARP9_uc003efj.2_Missense_Mutation_p.Y493N	p.Y528N	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1727	-			528					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1582T>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	A	6.366	0.435557	0.12104	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.15834	3.39;3.05;3.25;3.25;2.39	4.83	-9.66	0.00534	.	2.264100	0.01312	N	0.010677	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B;B;B	0.15141	0.006;0.005;0.012;0.002	B;B;B;B	0.09377	0.001;0.004;0.002;0.001	T	0.24905	-1.0147	10	0.17369	T	0.5	.	2.2672	0.04082	0.1696:0.2059:0.4029:0.2215	.	493;528;73;493	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	N	528;73;493;493;451;493	ENSP00000353512:Y528N;ENSP00000417664:Y73N;ENSP00000419506:Y493N;ENSP00000419001:Y493N;ENSP00000418894:Y493N	ENSP00000353512:Y528N	Y	-	1	0	PARP9	123742297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-1.980000	0.00990	-1.044000	0.02363	TAT		PASS	0.453	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		40	91	40	91	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125822661	125822661	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:125822661C>A	ENST00000393434.2	-	23	3031	c.2682G>T	c.(2680-2682)cgG>cgT	p.R894R	SLC41A3_ENST00000508835.1_5'Flank|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.R793R|ALDH1L1_ENST00000472186.1_Silent_p.R894R|ALDH1L1_ENST00000273450.3_Silent_p.R904R|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	894	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.R894R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTGTCTTGACCCGCAGGTACT	0.587																																						uc003eim.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2680-2682)CGG>CGT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						60.0	54.0	56.0					3																	125822661		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125822661C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2682G>T	3.37:g.125822661C>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.R793R|SLC41A3_uc011bkh.1_5'Flank	p.R894R	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	23	2872	-			894			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2682G>T	CCDS3034.1																																																																																				PASS	0.587	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		6	17	6	17	---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127823761	127823761	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:127823761C>A	ENST00000322623.5	-	4	467	c.368G>T	c.(367-369)cGa>cTa	p.R123L	RUVBL1_ENST00000464873.1_Missense_Mutation_p.R63L|RUVBL1_ENST00000417360.1_Missense_Mutation_p.R123L	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	123					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.R123L(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTCCTTTATTCGCAGCCCTGG	0.488																																						uc003ekh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(367-369)CGA>CTA		RuvB-like 1							129.0	126.0	127.0					3																	127823761		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127823761C>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.368G>T	3.37:g.127823761C>A	ENSP00000318297:p.Arg123Leu					RUVBL1_uc003ekf.2_Missense_Mutation_p.R63L|RUVBL1_uc010hss.2_Missense_Mutation_p.R123L	p.R123L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	4	472	-			123					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.368G>T	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368950	0.95900	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360	T;T;T	0.70282	-0.41;-0.47;-0.02	5.62	5.62	0.85841	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.91768	3.24	0.80722	D	1	D;P;D	0.69078	0.969;0.951;0.997	P;P;D	0.67231	0.721;0.596;0.95	D	0.89721	0.3919	10	0.72032	D	0.01	-22.6945	19.6678	0.95900	0.0:1.0:0.0:0.0	.	123;123;63	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	L	63;123;123	ENSP00000420738:R63L;ENSP00000318297:R123L;ENSP00000393755:R123L	ENSP00000318297:R123L	R	-	2	0	RUVBL1	129306451	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.731000	0.84895	2.659000	0.90383	0.585000	0.79938	CGA		PASS	0.488	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			18	42	18	42	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129278510	129278510	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:129278510C>A	ENST00000324093.4	-	32	5428	c.5250G>T	c.(5248-5250)aaG>aaT	p.K1750N	PLXND1_ENST00000504689.1_5'Flank|PLXND1_ENST00000393239.1_Missense_Mutation_p.K1750N	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1750					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.K1750N(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGATTCCCCTCTTCTCAGCCT	0.587																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(5248-5250)AAG>AAT		plexin D1 precursor							118.0	123.0	121.0					3																	129278510		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129278510C>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5250G>T	3.37:g.129278510C>A	ENSP00000317128:p.Lys1750Asn					PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.K418N	p.K1750N	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			32	5350	-			1750			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.5250G>T	CCDS33854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.23|18.23	3.577156|3.577156	0.65878|0.65878	.|.	.|.	ENSG00000004399|ENSG00000004399	ENST00000506979|ENST00000324093;ENST00000393239	.|T;T	.|0.12465	.|2.68;2.68	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.113047	.|0.56097	.|D	.|0.000022	.|T	.|0.31827	.|0.0809	L|L	0.60904|0.60904	1.88|1.88	0.52501|0.52501	D|D	0.999959|0.999959	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.995;0.999	.|T	.|0.02037	.|-1.1225	.|10	.|0.87932	.|D	.|0	.|.	11.3792|11.3792	0.49746|0.49746	0.0:0.8677:0.0:0.1323|0.0:0.8677:0.0:0.1323	.|.	.|345;1750	.|B4DRU3;Q9Y4D7	.|.;PLXD1_HUMAN	X|N	94|1750	.|ENSP00000317128:K1750N;ENSP00000376931:K1750N	.|ENSP00000317128:K1750N	E|K	-|-	1|3	0|2	PLXND1|PLXND1	130761200|130761200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.688000|0.688000	0.25422|0.25422	2.292000|2.292000	0.77174|0.77174	0.563000|0.563000	0.77884|0.77884	GAG|AAG		PASS	0.587	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		10	89	10	89	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129389433	129389433	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:129389433A>T	ENST00000393238.3	-	4	1591	c.1251T>A	c.(1249-1251)taT>taA	p.Y417*	TMCC1_ENST00000432054.2_Nonsense_Mutation_p.Y93*|TMCC1_ENST00000426664.2_Nonsense_Mutation_p.Y303*|TMCC1_ENST00000329333.5_Nonsense_Mutation_p.Y238*	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	417						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Y417*(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTTCACTACCATATTTTGGGC	0.498																																						uc003emz.3																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(1249-1251)TAT>TAA		transmembrane and coiled-coil domain family 1							102.0	96.0	98.0					3																	129389433		2203	4300	6503	SO:0001587	stop_gained	23023					integral to membrane		g.chr3:129389433A>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1251T>A	3.37:g.129389433A>T	ENSP00000376930:p.Tyr417*					TMCC1_uc003emy.3_Nonsense_Mutation_p.Y93*|TMCC1_uc011blc.1_Nonsense_Mutation_p.Y238*|TMCC1_uc010htg.2_Nonsense_Mutation_p.Y303*	p.Y417*	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			5	1752	-			417					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Nonsense_Mutation	SNP	ENST00000393238.3	37	c.1251T>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047036	0.75846	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	.	.	.	5.21	2.75	0.32379	.	0.053056	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1963	9.7044	0.40207	0.8559:0.0:0.1441:0.0	.	.	.	.	X	93;417;303;238	.	ENSP00000327349:Y238X	Y	-	3	2	TMCC1	130872123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.434000	0.34958	0.357000	0.24183	0.482000	0.46254	TAT		PASS	0.498	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	35	9	35	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098958	133098958	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:133098958G>C	ENST00000321871.6	+	4	613	c.403G>C	c.(403-405)Ggg>Cgg	p.G135R	TMEM108_ENST00000515826.1_Missense_Mutation_p.G135R|TMEM108_ENST00000393130.3_Missense_Mutation_p.G135R|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	135	Pro-rich.					integral component of membrane (GO:0016021)		p.G135R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGCCCTCGAGGGCAGGCTGC	0.706																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(403-405)GGG>CGG		transmembrane protein 108 precursor							27.0	29.0	28.0					3																	133098958		2203	4294	6497	SO:0001583	missense	66000					integral to membrane		g.chr3:133098958G>C	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.403G>C	3.37:g.133098958G>C	ENSP00000324651:p.Gly135Arg					TMEM108_uc003epi.2_Missense_Mutation_p.G135R|TMEM108_uc003epj.1_Missense_Mutation_p.G135R|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.G86R	p.G135R	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	677	+			135			Pro-rich.|Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.403G>C	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	8.533	0.871447	0.17322	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	3.32	3.32	0.38043	.	0.000000	0.37178	N	0.002214	T	0.74030	0.3663	L	0.57536	1.79	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.983	T	0.61744	-0.7000	10	0.62326	D	0.03	-11.9424	6.5934	0.22659	0.1285:0.0:0.8715:0.0	.	135;135	E9PB58;Q6UXF1	.;TM108_HUMAN	R	135;135;86;86;135;135;135	ENSP00000324651:G135R;ENSP00000376838:G135R;ENSP00000422072:G86R;ENSP00000427447:G86R;ENSP00000426301:G135R;ENSP00000423338:G135R;ENSP00000421486:G135R	ENSP00000324651:G135R	G	+	1	0	TMEM108	134581648	0.190000	0.23276	0.034000	0.17996	0.002000	0.02628	1.674000	0.37544	2.153000	0.67306	0.462000	0.41574	GGG		PASS	0.706	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		4	24	4	24	---	---	---	---
TF	7018	broad.mit.edu	37	3	133478161	133478161	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:133478161C>A	ENST00000402696.3	+	9	1676	c.1191C>A	c.(1189-1191)atC>atA	p.I397I	TF_ENST00000264998.3_Silent_p.I270I	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	397	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.I397I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AAGACTGCATCGCCAAGATCA	0.547																																						uc003epu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1189-1191)ATC>ATA		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						166.0	152.0	157.0					3																	133478161		2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133478161C>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1191C>A	3.37:g.133478161C>A						TF_uc011blt.1_Silent_p.I270I|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.I397I	p.I397I	NM_001063	NP_001054	P02787	TRFE_HUMAN			14	2919	+			397			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1191C>A	CCDS3080.1																																																																																				PASS	0.547	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		20	39	20	39	---	---	---	---
RBP1	5947	broad.mit.edu	37	3	139258355	139258355	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:139258355C>A	ENST00000483943.2	-	1	206	c.206G>T	c.(205-207)gGg>gTg	p.G69V	RBP1_ENST00000492918.1_Missense_Mutation_p.G69V|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.G69V	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	7					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.G69V(2)|p.G7V(1)		endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CTTCCAGTACCCAGTGAAGTC	0.672																																						uc003eti.2																			3	Substitution - Missense(3)		lung(3)		0						c.(205-207)GGG>GTG		retinol binding protein 1, cellular isoform a	Vitamin A(DB00162)						41.0	30.0	34.0					3																	139258355		2203	4300	6503	SO:0001583	missense	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139258355C>A		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.206G>T	3.37:g.139258355C>A	ENSP00000424813:p.Gly69Val					RBP1_uc011bmx.1_Missense_Mutation_p.G69V|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.G69V	p.G69V	NM_002899	NP_002890	P09455	RET1_HUMAN			1	317	-			7					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	c.206G>T	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140400	0.94560	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.58940	0.3;0.3;0.3	5.28	5.28	0.74379	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.86724	0.1944	10	0.87932	D	0	.	17.9012	0.88904	0.0:1.0:0.0:0.0	.	69;69;7	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	V	69	ENSP00000232219:G69V;ENSP00000424813:G69V;ENSP00000429166:G69V	ENSP00000232219:G69V	G	-	2	0	RBP1	140741045	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.795000	0.75140	2.470000	0.83445	0.655000	0.94253	GGG		PASS	0.672	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		6	11	6	11	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140397179	140397179	+	Missense_Mutation	SNP	C	C	A	rs377609285		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:140397179C>A	ENST00000286349.3	+	1	299	c.108C>A	c.(106-108)aaC>aaA	p.N36K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	36	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.N36K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGAGCGGAACTGCACCTGCT	0.527																																						uc003eto.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(106-108)AAC>AAA		tripartite motif-containing 42		C	LYS/ASN	1,4405	2.1+/-5.4	0,1,2202	285.0	241.0	256.0		108	2.8	1.0	3		256	0,8600		0,0,4300	no	missense	TRIM42	NM_152616.4	94	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	36/724	140397179	1,13005	2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397179C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.108C>A	3.37:g.140397179C>A	ENSP00000286349:p.Asn36Lys						p.N36K	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	299	+			36			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.108C>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195811	0.58126	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.41758	0.99	5.53	2.78	0.32641	.	0.510672	0.19682	N	0.108486	T	0.28200	0.0696	N	0.19112	0.55	0.31852	N	0.622115	D	0.56968	0.978	B	0.44224	0.444	T	0.35500	-0.9786	10	0.72032	D	0.01	-6.8321	8.0263	0.30438	0.0:0.7399:0.0:0.2601	.	36	Q8IWZ5	TRI42_HUMAN	K	36	ENSP00000286349:N36K	ENSP00000286349:N36K	N	+	3	2	TRIM42	141879869	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.138000	0.16016	0.718000	0.32166	-0.251000	0.11542	AAC		PASS	0.527	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		43	109	43	109	---	---	---	---
PCOLCE2	26577	broad.mit.edu	37	3	142557696	142557696	+	Missense_Mutation	SNP	C	C	A	rs138409602		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:142557696C>A	ENST00000295992.3	-	5	932	c.626G>T	c.(625-627)cGa>cTa	p.R209L	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R209L	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	209	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.R209L(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						ATAATCATATCGGCAGTAGTT	0.378																																						uc003evd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(625-627)CGA>CTA		procollagen C-endopeptidase enhancer 2							147.0	134.0	138.0					3																	142557696		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142557696C>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.626G>T	3.37:g.142557696C>A	ENSP00000295992:p.Arg209Leu						p.R209L	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			5	822	-			209			CUB 2.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.626G>T	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153997	0.78114	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.27402	1.67;1.67	5.77	4.9	0.64082	CUB (5);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.64170	1.965	0.58432	D	0.999997	D	0.76494	0.999	D	0.79108	0.992	T	0.56444	-0.7978	10	0.72032	D	0.01	-7.6536	14.7823	0.69776	0.0:0.9306:0.0:0.0694	.	209	Q9UKZ9	PCOC2_HUMAN	L	209	ENSP00000295992:R209L;ENSP00000419842:R209L	ENSP00000295992:R209L	R	-	2	0	PCOLCE2	144040386	1.000000	0.71417	0.957000	0.39632	0.998000	0.95712	7.487000	0.81328	1.446000	0.47643	0.591000	0.81541	CGA		PASS	0.378	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		12	45	12	45	---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681553	142681553	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:142681553T>A	ENST00000340634.3	-	1	625	c.626A>T	c.(625-627)tAc>tTc	p.Y209F	RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	209						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Y209F(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGGGCGCGGTAGGCGGCGAT	0.652																																						uc003evg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)TAC>TTC		progestin and adipoQ receptor family member IX							38.0	37.0	37.0					3																	142681553		2203	4299	6502	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681553T>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.626A>T	3.37:g.142681553T>A	ENSP00000341564:p.Tyr209Phe					PAQR9_uc003evf.1_5'Flank	p.Y209F	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	626	-			209			Helical; (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.626A>T	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	T	7.785	0.710372	0.15239	.	.	ENSG00000188582	ENST00000340634	T	0.34072	1.38	4.9	4.9	0.64082	.	0.156336	0.44902	D	0.000411	T	0.19485	0.0468	N	0.10733	0.035	0.42321	D	0.992259	B	0.20988	0.05	B	0.18871	0.023	T	0.08351	-1.0726	10	0.12766	T	0.61	-35.6841	14.8568	0.70344	0.0:0.0:0.0:1.0	.	209	Q6ZVX9	PAQR9_HUMAN	F	209	ENSP00000341564:Y209F	ENSP00000341564:Y209F	Y	-	2	0	PAQR9	144164243	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	1.856000	0.39389	1.963000	0.57068	0.459000	0.35465	TAC		PASS	0.652	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		4	15	4	15	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150834175	150834175	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:150834175C>A	ENST00000474524.1	+	2	188	c.150C>A	c.(148-150)gcC>gcA	p.A50A	MED12L_ENST00000422248.2_Silent_p.A50A|MED12L_ENST00000273432.4_Silent_p.A50A|MED12L_ENST00000309237.4_Silent_p.A50A	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	50						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A50A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCAGCCAGCCTTCACTGGAG	0.378																																						uc003eyp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(148-150)GCC>GCA		mediator of RNA polymerase II transcription,							115.0	109.0	112.0					3																	150834175		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150834175C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.150C>A	3.37:g.150834175C>A						MED12L_uc011bnz.1_Silent_p.A50A|MED12L_uc003eym.1_Silent_p.A50A|MED12L_uc003eyn.2_Silent_p.A50A|MED12L_uc003eyo.2_Silent_p.A50A	p.A50A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		2	188	+			50					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.150C>A	CCDS33876.1																																																																																				PASS	0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	16	7	16	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151164737	151164737	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:151164737C>A	ENST00000282466.3	-	4	3031	c.3032G>T	c.(3031-3033)gGg>gTg	p.G1011V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1011					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.G1011V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCTGCCTCCCAAAGCGTCT	0.498																																						uc011bod.1																			2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3031-3033)GGG>GTG		immunoglobulin superfamily, member 10 precursor							72.0	74.0	73.0					3																	151164737		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164737C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3032G>T	3.37:g.151164737C>A	ENSP00000282466:p.Gly1011Val						p.G1011V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3032	-			1011					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3032G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979557	0.34942	.	.	ENSG00000152580	ENST00000282466	D	0.88975	-2.45	5.46	3.61	0.41365	.	0.000000	0.47852	D	0.000219	D	0.86468	0.5940	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.86786	0.1982	10	0.66056	D	0.02	.	10.7032	0.45939	0.0:0.796:0.1325:0.0715	.	1011	Q6WRI0	IGS10_HUMAN	V	1011	ENSP00000282466:G1011V	ENSP00000282466:G1011V	G	-	2	0	IGSF10	152647427	0.948000	0.32251	0.580000	0.28601	0.021000	0.10359	2.085000	0.41634	0.630000	0.30394	0.591000	0.81541	GGG		PASS	0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		23	55	23	55	---	---	---	---
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605586	159605586	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:159605586G>C	ENST00000460298.1	+	5	1207	c.966G>C	c.(964-966)aaG>aaC	p.K322N	SCHIP1_ENST00000482804.1_Missense_Mutation_p.K135N|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.K130N|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.K438N|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.K349N|SCHIP1_ENST00000445224.2_Missense_Mutation_p.K119N|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.K362N|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.K411N					IQCJ-SCHIP1 readthrough									p.K362N(1)|p.K438N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CAAGGCAAAAGAAATTGCAAG	0.453																																						uc003fcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1084-1086)AAG>AAC		schwannomin interacting protein 1							123.0	128.0	126.0					3																	159605586		2203	4300	6503	SO:0001583	missense	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159605586G>C		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.966G>C	3.37:g.159605586G>C	ENSP00000417305:p.Lys322Asn					SCHIP1_uc003fcq.1_Missense_Mutation_p.K438N|SCHIP1_uc003fcr.1_Missense_Mutation_p.K351N|SCHIP1_uc003fct.1_Missense_Mutation_p.K349N|SCHIP1_uc010hvz.1_Missense_Mutation_p.K322N|SCHIP1_uc003fcu.1_Missense_Mutation_p.K119N|SCHIP1_uc003fcv.1_Missense_Mutation_p.K135N	p.K362N	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	1152	+			362						Missense_Mutation	SNP	ENST00000460298.1	37	c.1086G>C		.	.	.	.	.	.	.	.	.	.	G	17.87	3.496137	0.64186	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.3	5.3	0.74995	.	0.042224	0.85682	D	0.000000	T	0.59115	0.2170	L	0.34521	1.04	0.54753	D	0.999989	D;P;B;D;D;D	0.76494	0.999;0.761;0.358;0.996;0.997;0.992	D;B;B;P;D;P	0.66847	0.947;0.321;0.073;0.856;0.911;0.856	T	0.58572	-0.7613	10	0.48119	T	0.1	.	19.3285	0.94273	0.0:0.0:1.0:0.0	.	322;135;119;349;362;438	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	N	411;438;362;349;130;322;119;135	ENSP00000418692:K411N;ENSP00000420182:K438N;ENSP00000337239:K362N;ENSP00000400942:K349N;ENSP00000436076:K130N;ENSP00000417305:K322N;ENSP00000404860:K119N;ENSP00000419230:K135N	ENSP00000337239:K362N	K	+	3	2	SCHIP1;IQCJ-SCHIP1	161088280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.282000	0.95840	2.636000	0.89361	0.655000	0.94253	AAG		PASS	0.453	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		12	89	12	89	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168825717	168825717	+	Silent	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:168825717A>G	ENST00000472280.1	-	9	2308	c.2040T>C	c.(2038-2040)acT>acC	p.T680T	MECOM_ENST00000433243.2_Silent_p.T680T|MECOM_ENST00000392736.3_Silent_p.T679T|MECOM_ENST00000464456.1_Intron|MECOM_ENST00000460814.1_Intron|MECOM_ENST00000494292.1_Intron|MECOM_ENST00000264674.3_Silent_p.T744T|MECOM_ENST00000468789.1_Silent_p.T679T			Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T679T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AACTTACCCAAGTTCTCTGAT	0.308																																						uc003ffi.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2035-2037)ACT>ACC		MDS1 and EVI1 complex locus isoform b							49.0	54.0	52.0					3																	168825717		2202	4299	6501	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168825717A>G	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000472280.1:c.2040T>C	3.37:g.168825717A>G						MECOM_uc010hwk.1_Intron|MECOM_uc003ffj.3_Silent_p.T744T|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Silent_p.T679T|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Silent_p.T867T|MECOM_uc011bpk.1_Silent_p.T669T|MECOM_uc010hwn.2_Intron	p.T679T	NM_005241	NP_005232	Q03112	EVI1_HUMAN			9	2306	-			679					Q13466|Q6FH90	Silent	SNP	ENST00000472280.1	37	c.2037T>C																																																																																					PASS	0.308	MECOM-019	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351553.1	NM_005241, NM_004991		9	36	9	36	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173525560	173525560	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:173525560G>A	ENST00000457714.1	+	4	1013	c.584G>A	c.(583-585)aGt>aAt	p.S195N	NLGN1_ENST00000545397.1_Missense_Mutation_p.S195N|NLGN1_ENST00000361589.4_Missense_Mutation_p.S195N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S235N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	212					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.S195N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATGATGGAAGTGTCTTGGCA	0.428																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(583-585)AGT>AAT		neuroligin 1							171.0	165.0	167.0					3																	173525560		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525560G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.584G>A	3.37:g.173525560G>A	ENSP00000392500:p.Ser195Asn					NLGN1_uc010hww.1_Missense_Mutation_p.S235N|NLGN1_uc003fip.1_Missense_Mutation_p.S195N	p.S195N	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1007	+	Ovarian(172;0.0025)		212			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.584G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012908	0.93346	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81706	0.4879	M	0.76002	2.32	0.80722	D	1	D;D	0.63880	0.993;0.986	D;P	0.65987	0.94;0.814	D	0.83425	0.0035	10	0.72032	D	0.01	.	19.2403	0.93879	0.0:0.0:1.0:0.0	.	235;195	D2X2H5;Q8N2Q7-2	.;.	N	195;195;235;195;235	ENSP00000392500:S195N;ENSP00000354541:S195N;ENSP00000410374:S235N;ENSP00000441108:S195N;ENSP00000385750:S235N	ENSP00000354541:S195N	S	+	2	0	NLGN1	175008254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.555000	0.86185	0.557000	0.71058	AGT		PASS	0.428	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		13	48	13	48	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178919142	178919142	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:178919142G>A	ENST00000263967.3	+	4	784	c.627G>A	c.(625-627)ctG>ctA	p.L209L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	209	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.L209L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGTATACTCTGAAAATCAACC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - coding silent(2)		lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(625-627)CTG>CTA		phosphoinositide-3-kinase, catalytic, alpha							151.0	138.0	142.0					3																	178919142		1849	4114	5963	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178919142G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.627G>A	3.37:g.178919142G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.L209L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		4	784	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		209			PI3K-RBD.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.627G>A	CCDS43171.1																																																																																				PASS	0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	74	40	74	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179076790	179076790	+	Splice_Site	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:179076790G>T	ENST00000471841.1	+	4	537	c.411G>T	c.(409-411)aaG>aaT	p.K137N	MFN1_ENST00000280653.7_Splice_Site_p.K137N|MFN1_ENST00000263969.5_Splice_Site_p.K137N	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	137	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K137N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGAGTGTGAAGGTATGATCTT	0.343																																						uc003fjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(409-411)AAG>AAT		mitofusin 1							109.0	103.0	105.0					3																	179076790		2203	4300	6503	SO:0001630	splice_region_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076790G>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.411+1G>T	3.37:g.179076790G>T						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.K165N	p.K137N	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	537	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		137			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.411G>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175752	0.78564	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.70227	0.936;0.968	D	0.97025	0.9746	10	0.37606	T	0.19	-21.9982	20.5632	0.99335	0.0:0.0:1.0:0.0	.	165;137	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	N	137	ENSP00000420617:K137N;ENSP00000280653:K137N;ENSP00000419134:K137N;ENSP00000263969:K137N	ENSP00000263969:K137N	K	+	3	2	MFN1	180559484	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.575000	0.82447	2.937000	0.99478	0.650000	0.86243	AAG		PASS	0.343	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	Missense_Mutation	10	32	10	32	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184076563	184076563	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:184076563C>A	ENST00000265593.4	-	3	430	c.259G>T	c.(259-261)Gtt>Ttt	p.V87F	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.V87F|CLCN2_ENST00000475279.1_5'Flank|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000434054.2_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.V87F|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	87					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.V87F(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TCTTCACCAACCCTGGATACT	0.557																																						uc003foi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)GTT>TTT		chloride channel 2	Lubiprostone(DB01046)						108.0	84.0	92.0					3																	184076563		2202	4299	6501	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184076563C>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.259G>T	3.37:g.184076563C>A	ENSP00000265593:p.Val87Phe					CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.V87F|CLCN2_uc011brl.1_Missense_Mutation_p.V87F|CLCN2_uc011brm.1_Intron|CLCN2_uc011brn.1_Missense_Mutation_p.V87F|POLR2H_uc003foj.1_5'Flank	p.V87F	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	383	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		87			Cytoplasmic (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.259G>T	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	17.08	3.296991	0.60086	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000457512	D;D;D	0.93019	-3.15;-3.15;-3.15	4.23	4.23	0.50019	Chloride channel, core (2);	0.000000	0.64402	D	0.000001	D	0.93180	0.7828	L	0.52266	1.64	0.80722	D	1	B;D;D;D	0.63880	0.017;0.987;0.993;0.987	B;P;P;P	0.59889	0.017;0.736;0.865;0.736	D	0.91895	0.5527	10	0.48119	T	0.1	-18.7277	6.7179	0.23314	0.1788:0.728:0.0:0.0932	.	87;87;87;87	B4DYE3;E9PCD2;P51788-3;P51788	.;.;.;CLCN2_HUMAN	F	87	ENSP00000265593:V87F;ENSP00000345056:V87F;ENSP00000391928:V87F	ENSP00000265593:V87F	V	-	1	0	CLCN2	185559257	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.187000	0.50950	2.208000	0.71279	0.462000	0.41574	GTT		PASS	0.557	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			3	9	3	9	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910839	184910839	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:184910839T>A	ENST00000231887.3	-	7	1422	c.1347A>T	c.(1345-1347)caA>caT	p.Q449H	EHHADH_ENST00000456310.1_Missense_Mutation_p.Q353H|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	449	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.Q449H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GGGAAGAGTATTGGCTGGGAA	0.428																																						uc003fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1345-1347)CAA>CAT		enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)						95.0	98.0	97.0					3																	184910839		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910839T>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1347A>T	3.37:g.184910839T>A	ENSP00000231887:p.Gln449His					EHHADH_uc011brs.1_Missense_Mutation_p.Q353H	p.Q449H	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1374	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		449			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1347A>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.655862	0.29425	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.76839	-1.05;-1.05	5.91	-3.01	0.05463	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	1.673000	0.03049	N	0.154345	T	0.70020	0.3176	L	0.39514	1.22	0.09310	N	1	P	0.36909	0.573	B	0.41691	0.364	T	0.60021	-0.7344	10	0.46703	T	0.11	0.0967	3.9104	0.09201	0.1775:0.2464:0.4552:0.1209	.	449	Q08426	ECHP_HUMAN	H	449;449;353	ENSP00000231887:Q449H;ENSP00000387746:Q353H	ENSP00000231887:Q449H	Q	-	3	2	EHHADH	186393533	0.000000	0.05858	0.003000	0.11579	0.858000	0.48976	-2.045000	0.01410	-0.073000	0.12842	0.533000	0.62120	CAA		PASS	0.428	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			19	45	19	45	---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192078223	192078223	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr3:192078223C>A	ENST00000454309.2	-	2	1129	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Missense_Mutation_p.D40Y|FGF12_ENST00000445105.2_Missense_Mutation_p.D40Y|FGF12_ENST00000264730.3_Missense_Mutation_p.D40Y	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	102					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.D102Y(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTACTGTAGTCGCTGTTTTCG	0.433																																						uc003fsx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(304-306)GAC>TAC		fibroblast growth factor 12 isoform 1							174.0	143.0	154.0					3																	192078223		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192078223C>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.304G>T	3.37:g.192078223C>A	ENSP00000413496:p.Asp102Tyr					FGF12_uc003fsy.2_Missense_Mutation_p.D40Y	p.D102Y	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	2	1130	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	102					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.304G>T	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668318	0.67814	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000448795;ENST00000418610	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	L	0.41824	1.3	0.58432	D	0.999998	D;D	0.57257	0.979;0.971	P;P	0.57468	0.727;0.821	D	0.84951	0.0871	10	0.59425	D	0.04	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	40;102	P61328-2;P61328	.;FGF12_HUMAN	Y	40;40;40;102;40;16;40	ENSP00000264730:D40Y;ENSP00000393686:D40Y;ENSP00000413496:D102Y;ENSP00000397635:D40Y;ENSP00000412904:D16Y;ENSP00000395517:D40Y	ENSP00000264730:D40Y	D	-	1	0	FGF12	193560917	0.955000	0.32602	0.988000	0.46212	0.981000	0.71138	2.160000	0.42348	2.613000	0.88420	0.591000	0.81541	GAC		PASS	0.433	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		15	20	15	20	---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6826361	6826361	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:6826361G>A	ENST00000307659.5	+	3	636	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V61I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	61							ATP binding (GO:0005524)	p.V61I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CACTCGGTATGTCCTCAGTCT	0.433																																						uc003gjr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(181-183)GTC>ATC		hypothetical protein LOC9778							128.0	132.0	130.0					4																	6826361		1977	4164	6141	SO:0001583	missense	9778						ATP binding	g.chr4:6826361G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.181G>A	4.37:g.6826361G>A	ENSP00000303928:p.Val61Ile					KIAA0232_uc003gjq.3_Missense_Mutation_p.V61I	p.V61I	NM_014743	NP_055558	Q92628	K0232_HUMAN			3	644	+			61					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.181G>A	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157862	0.78114	.	.	ENSG00000170871	ENST00000508423;ENST00000425103;ENST00000307659	.	.	.	6.07	5.22	0.72569	.	0.055928	0.64402	N	0.000001	T	0.52141	0.1716	L	0.36672	1.1	0.48135	D	0.999595	B	0.15141	0.012	B	0.16722	0.016	T	0.45323	-0.9269	8	.	.	.	-18.2003	14.498	0.67702	0.0709:0.0:0.9291:0.0	.	61	Q92628	K0232_HUMAN	I	61	.	.	V	+	1	0	KIAA0232	6877262	1.000000	0.71417	0.916000	0.36221	0.998000	0.95712	6.278000	0.72614	1.549000	0.49425	0.655000	0.94253	GTC		PASS	0.433	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		8	52	8	52	---	---	---	---
PSAPL1	768239	broad.mit.edu	37	4	7436386	7436386	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:7436386G>T	ENST00000319098.4	-	1	314	c.221C>A	c.(220-222)gCt>gAt	p.A74D	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	74	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.A74D(1)		lung(4)	4						CCCATTGCCAGCGGCGGCTGC	0.632																																						uc011bwj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)GCT>GAT		prosaposin-like protein 1							28.0	34.0	32.0					4																	7436386		2067	4203	6270	SO:0001583	missense	768239				sphingolipid metabolic process	extracellular region|lysosome		g.chr4:7436386G>T	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.221C>A	4.37:g.7436386G>T	ENSP00000317445:p.Ala74Asp					SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	p.A74D	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN			1	315	-			74			Saposin B-type 1.		A0A184|Q8N7T4	Missense_Mutation	SNP	ENST00000319098.4	37	c.221C>A	CCDS47009.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664381	0.47572	.	.	ENSG00000178597	ENST00000319098	D	0.85861	-2.04	3.04	1.22	0.21188	Saposin-like (2);Saposin-like type B, 1 (1);Saposin B (2);	.	.	.	.	D	0.83774	0.5327	M	0.66939	2.045	0.09310	N	1	P	0.44946	0.846	P	0.46825	0.528	T	0.74287	-0.3714	9	0.72032	D	0.01	.	4.7094	0.12865	0.314:0.0:0.686:0.0	.	74	Q6NUJ1	SAPL1_HUMAN	D	74	ENSP00000317445:A74D	ENSP00000317445:A74D	A	-	2	0	PSAPL1	7487287	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.263000	0.18478	0.619000	0.30197	-0.258000	0.10820	GCT		PASS	0.632	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			3	9	3	9	---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8368789	8368789	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:8368789C>A	ENST00000356406.5	-	18	2079	c.2002G>T	c.(2002-2004)Ggc>Tgc	p.G668C	ACOX3_ENST00000503233.1_Missense_Mutation_p.G668C|ACOX3_ENST00000413009.2_3'UTR|ACOX3_ENST00000515797.1_5'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	668					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.G668C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGGACAGCGCCCCAGAGGTTT	0.473																																						uc010idk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2002-2004)GGC>TGC		acyl-Coenzyme A oxidase 3 isoform a							68.0	65.0	66.0					4																	8368789		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8368789C>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.2002G>T	4.37:g.8368789C>A	ENSP00000348775:p.Gly668Cys					ACOX3_uc003glc.3_Missense_Mutation_p.G668C|ACOX3_uc003gld.3_3'UTR	p.G668C	NM_003501	NP_003492	O15254	ACOX3_HUMAN			18	2147	-			668					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.2002G>T	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812575	0.50527	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	T;T	0.43688	0.94;0.94	5.16	-4.18	0.03846	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	3.588060	0.00841	N	0.001752	T	0.52008	0.1708	L	0.54323	1.7	0.09310	N	0.999994	P	0.49358	0.923	P	0.55667	0.781	T	0.56866	-0.7908	10	0.72032	D	0.01	-1.4121	8.7198	0.34434	0.1008:0.6107:0.0:0.2885	.	668	O15254	ACOX3_HUMAN	C	668	ENSP00000348775:G668C;ENSP00000421625:G668C	ENSP00000348775:G668C	G	-	1	0	ACOX3	8419689	0.000000	0.05858	0.003000	0.11579	0.200000	0.23975	-2.269000	0.01168	-1.042000	0.03262	-0.140000	0.14226	GGC		PASS	0.473	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			8	41	8	41	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20530638	20530638	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:20530638G>T	ENST00000504154.1	+	16	1781	c.1529G>T	c.(1528-1530)tGt>tTt	p.C510F	SLIT2_ENST00000503823.1_Missense_Mutation_p.C502F|SLIT2_ENST00000503837.1_Missense_Mutation_p.C506F|MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000273739.5_Missense_Mutation_p.C514F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	510	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.C510F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTGAAAAGTGTCGCTGTGAA	0.423																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1528-1530)TGT>TTT		slit homolog 2 precursor							122.0	123.0	122.0					4																	20530638		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530638G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1529G>T	4.37:g.20530638G>T	ENSP00000422591:p.Cys510Phe					SLIT2_uc003gps.1_Missense_Mutation_p.C502F	p.C510F	NM_004787	NP_004778	O94813	SLIT2_HUMAN			16	1733	+			510			LRRNT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1529G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116240	0.77323	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.99930	-8.16;-8.16;-8.16;-8.16	5.93	5.93	0.95920	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96513	0.9380	10	0.59425	D	0.04	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	502;510	O94813-3;O94813	.;SLIT2_HUMAN	F	502;510;514;506;506	ENSP00000427548:C502F;ENSP00000422591:C510F;ENSP00000273739:C514F;ENSP00000422261:C506F	ENSP00000273739:C514F	C	+	2	0	SLIT2	20139736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.467000	0.97671	2.798000	0.96311	0.655000	0.94253	TGT		PASS	0.423	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			8	73	8	73	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22438203	22438203	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:22438203T>A	ENST00000334304.5	-	9	1416	c.1147A>T	c.(1147-1149)Agt>Tgt	p.S383C	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.S157C|GPR125_ENST00000502482.1_Missense_Mutation_p.S383C	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	383					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.S383C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TATATCCCACTGCCATGGGTG	0.458																																						uc003gqm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1147-1149)AGT>TGT		G protein-coupled receptor 125 precursor							91.0	81.0	84.0					4																	22438203		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22438203T>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1147A>T	4.37:g.22438203T>A	ENSP00000334952:p.Ser383Cys					GPR125_uc010ieo.1_Missense_Mutation_p.S257C|GPR125_uc003gqn.1_Missense_Mutation_p.S157C|GPR125_uc003gqo.2_Missense_Mutation_p.S383C	p.S383C	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			9	1412	-		Breast(46;0.198)	383			Extracellular (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1147A>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275645	0.59649	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.54071	0.59;0.59;0.59	6.17	2.45	0.29901	GPCR, family 2, extracellular hormone receptor domain (2);	0.268459	0.48767	D	0.000180	T	0.62563	0.2438	L	0.50333	1.59	0.40228	D	0.977815	D;D;B;P	0.67145	0.984;0.996;0.25;0.928	P;D;B;P	0.70016	0.878;0.967;0.391;0.739	T	0.62172	-0.6910	10	0.72032	D	0.01	-5.8817	10.0683	0.42317	0.0:0.1877:0.0:0.8123	.	258;383;157;383	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	C	383;157;383	ENSP00000334952:S383C;ENSP00000422606:S157C;ENSP00000421006:S383C	ENSP00000334952:S383C	S	-	1	0	GPR125	22047301	1.000000	0.71417	0.872000	0.34217	0.989000	0.77384	3.455000	0.52993	0.209000	0.20645	0.533000	0.62120	AGT		PASS	0.458	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			7	39	7	39	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22748957	22748957	+	RNA	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:22748957A>G	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.K109E(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTTGTTAAAAAATGGGGT	0.363																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)AAA>GAA		cytosolic beta-glucosidase isoform a							126.0	125.0	125.0					4																	22748957		1816	4071	5887			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748957A>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22748957A>G						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.K110E	p.K109E	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	416	+			109					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.325A>G																																																																																					PASS	0.363	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			16	116	16	116	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37848563	37848563	+	Missense_Mutation	SNP	G	G	A	rs538140719		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:37848563G>A	ENST00000381967.4	+	9	1119	c.1019G>A	c.(1018-1020)aGg>aAg	p.R340K	PGM2_ENST00000544359.1_Missense_Mutation_p.R201K|PGM2_ENST00000537241.1_Missense_Mutation_p.R180K	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	340					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.R340K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GGTGAATGGAGGGTGTTTTCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18244	0.0		0.001	False		,,,				2504	0.0					uc011byb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1018-1020)AGG>AAG		phosphoglucomutase 2							93.0	104.0	100.0					4																	37848563		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.chr4:37848563G>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.1019G>A	4.37:g.37848563G>A	ENSP00000371393:p.Arg340Lys					PGM2_uc011bya.1_Missense_Mutation_p.R201K|PGM2_uc011byc.1_Missense_Mutation_p.R180K	p.R340K	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			9	1092	+			340					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1019G>A	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	4.365	0.067174	0.08388	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T	0.38240	1.15;1.94	5.78	1.36	0.22044	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.176756	0.64402	N	0.000013	T	0.13243	0.0321	N	0.05351	-0.065	0.45227	D	0.99823	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27606	-1.0069	10	0.02654	T	1	-7.1505	7.1671	0.25698	0.6532:0.0:0.3468:0.0	.	340;201	Q96G03;B4E0G8	PGM2_HUMAN;.	K	340;201;180	ENSP00000371393:R340K;ENSP00000437342:R180K	ENSP00000371393:R340K	R	+	2	0	PGM2	37524958	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	2.149000	0.42244	0.309000	0.22966	0.655000	0.94253	AGG		PASS	0.428	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		23	58	23	58	---	---	---	---
SHISA3	152573	broad.mit.edu	37	4	42403402	42403402	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:42403402C>A	ENST00000319234.4	+	2	869	c.651C>A	c.(649-651)ttC>ttA	p.F217L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	217					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F217L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCCAGTATTTCGCTTACCCCC	0.612																																						uc003gwp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(649-651)TTC>TTA		shisa homolog 3 precursor							71.0	73.0	72.0					4																	42403402		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403402C>A	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.651C>A	4.37:g.42403402C>A	ENSP00000326445:p.Phe217Leu						p.F217L	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	869	+			217			Cytoplasmic (Potential).		A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.651C>A	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143146	0.37825	.	.	ENSG00000178343	ENST00000319234	T	0.41758	0.99	5.15	-5.42	0.02640	.	0.056030	0.64402	D	0.000001	T	0.19644	0.0472	N	0.19112	0.55	0.38175	D	0.939457	B	0.19200	0.034	B	0.15052	0.012	T	0.21042	-1.0257	10	0.12766	T	0.61	-2.0E-4	11.0682	0.47987	0.0:0.2667:0.0837:0.6496	.	217	A0PJX4	SHSA3_HUMAN	L	217	ENSP00000326445:F217L	ENSP00000326445:F217L	F	+	3	2	SHISA3	42098159	0.002000	0.14202	0.297000	0.24988	0.657000	0.38888	-0.927000	0.03984	-1.160000	0.02804	-0.140000	0.14226	TTC		PASS	0.612	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		15	48	15	48	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895622	42895622	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:42895622G>T	ENST00000399770.2	+	1	339	c.339G>T	c.(337-339)gtG>gtT	p.V113V	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	113					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.V113V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AATACAAAGTGAGTGCTGGCC	0.433																																						uc003gwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(337-339)GTG>GTT		glutaredoxin, cysteine rich 1							107.0	108.0	107.0					4																	42895622		1954	4149	6103	SO:0001819	synonymous_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895622G>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.339G>T	4.37:g.42895622G>T							p.V113V	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	339	+			113						Silent	SNP	ENST00000399770.2	37	c.339G>T	CCDS43225.1																																																																																				PASS	0.433	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		8	72	8	72	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46053631	46053631	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:46053631G>T	ENST00000295452.4	-	8	1108	c.941C>A	c.(940-942)aCa>aAa	p.T314K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	314					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.T314K(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)	ACTCAGGGTTGTCATAGTCAG	0.358																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(940-942)ACA>AAA		gamma-aminobutyric acid A receptor, gamma 1							86.0	81.0	83.0					4																	46053631		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.chr4:46053631G>T	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.941C>A	4.37:g.46053631G>T	ENSP00000295452:p.Thr314Lys						p.T314K	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1093	-			314			Helical; (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.941C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668570	0.88348	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.93763	-3.28	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98953	1.0795	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	314	Q8N1C3	GBRG1_HUMAN	K	314	ENSP00000295452:T314K	ENSP00000295452:T314K	T	-	2	0	GABRG1	45748388	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.869000	0.99810	2.664000	0.90586	0.655000	0.94253	ACA		PASS	0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		7	29	7	29	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46067412	46067412	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:46067412A>C	ENST00000295452.4	-	4	678	c.511T>G	c.(511-513)Tgg>Ggg	p.W171G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	171					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.W171G(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)	CCATCATTCCAAATTCGAAGC	0.318																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(511-513)TGG>GGG		gamma-aminobutyric acid A receptor, gamma 1							82.0	81.0	81.0					4																	46067412		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.chr4:46067412A>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.511T>G	4.37:g.46067412A>C	ENSP00000295452:p.Trp171Gly						p.W171G	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	663	-			171			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.511T>G	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.450913	0.63290	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78595	-1.19	5.08	3.9	0.45041	Neurotransmitter-gated ion-channel ligand-binding (3);	0.064498	0.64402	D	0.000002	T	0.74741	0.3756	L	0.47716	1.5	0.53005	D	0.999967	B	0.30361	0.277	B	0.42593	0.392	T	0.69914	-0.5016	10	0.26408	T	0.33	.	9.7563	0.40504	0.9177:0.0:0.0823:0.0	.	171	Q8N1C3	GBRG1_HUMAN	G	171	ENSP00000295452:W171G	ENSP00000295452:W171G	W	-	1	0	GABRG1	45762169	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.107000	0.71517	2.032000	0.59987	0.416000	0.27883	TGG		PASS	0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		7	47	7	47	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47527573	47527574	+	Splice_Site	DNP	GG	GG	TT			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:47527573_47527574GG>TT	ENST00000273859.3	+	5	959_960	c.690_691GG>TT	c.(688-693)caGGac>caTTac	p.230_231QD>HY	ATP10D_ENST00000504445.1_Splice_Site_p.230_231QD>HY	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	230					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(2)|p.D231Y(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATATTTTTAGGACTCTGAAGT	0.337																																						uc003gxk.1																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(2)|pancreas(1)	3						c.e5-1|c.(691-693)GAC>TAC		ATPase, class V, type 10D																																				SO:0001630	splice_region_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47527573G>T|g.chr4:47527574G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	Exception_encountered	4.37:g.47527573_47527574delinsTT						ATP10D_uc003gxj.3_Splice_Site_p.D231_splice|ATP10D_uc003gxj.3_Missense_Mutation_p.D231Y	p.D231_splice|p.D231Y	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			5	855	+			|231			|Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Splice_Site|Missense_Mutation	SNP	ENST00000273859.3	37	c.691_splice|c.691G>T	CCDS3476.1																																																																																				PASS	0.337	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	Missense_Mutation	7	29|28	7	28	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52883288	52883288	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:52883288G>A	ENST00000343457.3	-	1	498	c.492C>T	c.(490-492)ccC>ccT	p.P164P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	164						integral component of membrane (GO:0016021)		p.P164P(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACTCACCCTTGGGAGTGTCAC	0.418																																						uc003gzi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(490-492)CCC>CCT		leucine rich repeat containing 66							153.0	139.0	144.0					4																	52883288		1880	4123	6003	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52883288G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.492C>T	4.37:g.52883288G>A							p.P164P	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			1	505	-			164			LRR 3.			Silent	SNP	ENST00000343457.3	37	c.492C>T	CCDS43229.1																																																																																				PASS	0.418	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		25	66	25	66	---	---	---	---
SCFD2	152579	broad.mit.edu	37	4	54231648	54231648	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:54231648A>G	ENST00000401642.3	-	1	594	c.461T>C	c.(460-462)tTc>tCc	p.F154S	SCFD2_ENST00000388940.4_Missense_Mutation_p.F154S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	154					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.F154S(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGGGACATGGAACACCTCGGC	0.587																																						uc003gzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(460-462)TTC>TCC		sec1 family domain containing 2							92.0	77.0	82.0					4																	54231648		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231648A>G	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.461T>C	4.37:g.54231648A>G	ENSP00000384182:p.Phe154Ser					SCFD2_uc010igm.2_Missense_Mutation_p.F154S	p.F154S	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	595	-			154					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.461T>C	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443422	0.25987	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.41758	1.0;0.99	5.51	5.51	0.81932	.	0.178537	0.43747	D	0.000532	T	0.34308	0.0893	L	0.29908	0.895	0.24308	N	0.995098	B;B	0.22909	0.077;0.046	B;B	0.25140	0.058;0.026	T	0.35871	-0.9771	10	0.72032	D	0.01	.	13.6279	0.62178	1.0:0.0:0.0:0.0	.	154;154	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	S	154	ENSP00000384182:F154S;ENSP00000373592:F154S	ENSP00000373592:F154S	F	-	2	0	SCFD2	53926405	1.000000	0.71417	0.896000	0.35187	0.027000	0.11550	3.409000	0.52657	2.317000	0.78254	0.459000	0.35465	TTC		PASS	0.587	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		3	25	3	25	---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54343060	54343060	+	Silent	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:54343060C>G	ENST00000263925.7	-	9	2066	c.1752G>C	c.(1750-1752)tcG>tcC	p.S584S	LNX1_ENST00000306888.2_Silent_p.S488S|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	584	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S488S(1)|p.S584S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGAGTACTATCGAGGATGATG	0.522																																						uc003hag.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(1750-1752)TCG>TCC		ligand of numb-protein X 1 isoform a							177.0	179.0	179.0					4																	54343060		2203	4300	6503	SO:0001819	synonymous_variant	84708					cytoplasm	zinc ion binding	g.chr4:54343060C>G	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1752G>C	4.37:g.54343060C>G						PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.S488S|LNX1_uc003hah.3_RNA	p.S584S	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		9	2008	-	all_neural(26;0.153)		584			PDZ 3.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	c.1752G>C	CCDS47057.1																																																																																				PASS	0.522	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			22	81	22	81	---	---	---	---
HOPX	84525	broad.mit.edu	37	4	57522051	57522052	+	Missense_Mutation	DNP	TC	TC	AG	rs201186356		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:57522051_57522052TC>AG	ENST00000337881.7	-	2	771_772	c.115_116GA>CT	c.(115-117)GAg>CTg	p.E39L	HOPX_ENST00000553379.2_Missense_Mutation_p.E39L|HOPX_ENST00000381260.3_Missense_Mutation_p.E39L|HOPX_ENST00000508121.1_Missense_Mutation_p.E57L|HOPX_ENST00000317745.7_Missense_Mutation_p.E39L|HOPX_ENST00000555760.2_Missense_Mutation_p.E39L|HOPX_ENST00000554144.1_Missense_Mutation_p.E57L|HOPX_ENST00000420433.1_Missense_Mutation_p.E57L|HOPX_ENST00000556376.2_Missense_Mutation_p.E39L|HOPX_ENST00000503639.3_Missense_Mutation_p.E39L|HOPX_ENST00000381255.3_Missense_Mutation_p.E39L|HOPX_ENST00000556614.2_Missense_Mutation_p.E39L	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	39					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E57L(1)|p.E39V(1)|p.E39Q(1)|p.E39L(1)|p.E57Q(1)|p.E57V(1)		large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCCTGCCTCGGCCGCGATG	0.683																																						uc011cad.1																			6	Substitution - Missense(6)		lung(6)		0						c.(115-117)GAG>GTG|c.(115-117)GAG>CAG		HOP homeobox isoform b																																				SO:0001583	missense	84525				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:57522051T>A|g.chr4:57522052C>G		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.115_116delinsAG	4.37:g.57522051_57522052delinsAG	ENSP00000337330:p.Glu39Leu					HOPX_uc003hcc.2_Missense_Mutation_p.E57V|HOPX_uc003hca.2_Missense_Mutation_p.E57V|HOPX_uc003hcb.2_Missense_Mutation_p.E39V|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E39V|HOPX_uc003hcc.2_Missense_Mutation_p.E57Q|HOPX_uc003hca.2_Missense_Mutation_p.E57Q|HOPX_uc003hcb.2_Missense_Mutation_p.E39Q|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E39Q	p.E39V|p.E39Q	NM_001145459	NP_001138931	Q9BPY8	HOP_HUMAN			2	351|350	-	Glioma(25;0.08)|all_neural(26;0.101)		39			Homeobox; atypical.		A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	37	c.116A>T|c.115G>C	CCDS3507.1																																																																																				PASS	0.683	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			5	12	5	12	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66467468	66467468	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:66467468C>A	ENST00000273854.3	-	3	1401	c.801G>T	c.(799-801)gtG>gtT	p.V267V	EPHA5_ENST00000354839.4_Silent_p.V267V|EPHA5_ENST00000511294.1_Silent_p.V267V|EPHA5_ENST00000432638.2_Silent_p.V267V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	267	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.V267V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTCATCGGTCACAGAATGGT	0.527										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(799-801)GTG>GTT		ephrin receptor EphA5 isoform a precursor							81.0	77.0	79.0					4																	66467468		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467468C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.801G>T	4.37:g.66467468C>A		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.V198V|EPHA5_uc003hcz.2_Silent_p.V267V|EPHA5_uc011cah.1_Silent_p.V267V|EPHA5_uc011cai.1_Silent_p.V267V|EPHA5_uc003hda.2_Silent_p.V267V	p.V267V	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	994	-			267			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.801G>T	CCDS3513.1																																																																																				PASS	0.527	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		7	18	7	18	---	---	---	---
TMPRSS11E	28983	broad.mit.edu	37	4	69343137	69343137	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:69343137C>A	ENST00000305363.4	+	8	822	c.758C>A	c.(757-759)cCt>cAt	p.P253H		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P253H(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAATAAAACCTTCGAAAATG	0.388																																						uc003hdz.3																			1	Substitution - Missense(1)		lung(1)								c.(757-759)CCT>CAT		transmembrane protease, serine 11E							146.0	159.0	155.0					4																	69343137		2203	4296	6499	SO:0001583	missense	0							g.chr4:69343137C>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.758C>A	4.37:g.69343137C>A	ENSP00000307519:p.Pro253His						p.P253H	NM_014058	NP_054777					8	822	+								A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.758C>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342679	0.24339	.	.	ENSG00000087128	ENST00000305363	D	0.88818	-2.43	5.38	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.135832	0.33813	N	0.004537	D	0.92120	0.7502	L	0.48986	1.54	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85925	0.1448	10	0.72032	D	0.01	.	12.9611	0.58458	0.1631:0.8369:0.0:0.0	.	253	Q9UL52	TM11E_HUMAN	H	253	ENSP00000307519:P253H	ENSP00000307519:P253H	P	+	2	0	TMPRSS11E	69025732	0.101000	0.21875	0.046000	0.18839	0.009000	0.06853	2.845000	0.48254	1.200000	0.43188	0.585000	0.79938	CCT		PASS	0.388	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		40	150	40	150	---	---	---	---
UGT2A1	10941	broad.mit.edu	37	4	70513211	70513211	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:70513211G>A	ENST00000503640.1	-	1	207	c.152C>T	c.(151-153)aCt>aTt	p.T51I	UGT2A1_ENST00000512704.1_Missense_Mutation_p.T51I|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T51I|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T51I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	51					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.T51I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACTAGGACAGTCACATTATG	0.388																																						uc003hem.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)ACT>ATT		UDP glucuronosyltransferase 2 family,							101.0	96.0	98.0					4																	70513211		2203	4299	6502	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70513211G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.152C>T	4.37:g.70513211G>A	ENSP00000424478:p.Thr51Ile					UGT2A1_uc011caq.1_Missense_Mutation_p.T51I|UGT2A1_uc010ihu.2_Missense_Mutation_p.T51I|UGT2A1_uc010iht.2_Missense_Mutation_p.T51I	p.T51I	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	215	-			51			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.152C>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204155	0.58234	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;0.23;-0.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.83692	2.655	.	.	.	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85931	0.1452	9	0.54805	T	0.06	.	17.8477	0.88736	0.0:0.0:1.0:0.0	.	51;51;51;51	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	I	51	ENSP00000424478:T51I;ENSP00000421432:T51I;ENSP00000425497:T51I;ENSP00000286604:T51I;ENSP00000427709:T51I	ENSP00000286604:T51I	T	-	2	0	UGT2A1	70547800	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	6.523000	0.73787	2.826000	0.97356	0.655000	0.94253	ACT		PASS	0.388	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		13	51	13	51	---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70599210	70599210	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:70599210C>G	ENST00000310613.3	-	6	815	c.518G>C	c.(517-519)tGg>tCg	p.W173S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	173					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.W173S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGAGTAAACCAGGAACCATA	0.294																																						uc003hen.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)TGG>TCG		sulfotransferase family, cytosolic, 1B, member							130.0	138.0	135.0					4																	70599210		2202	4300	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70599210C>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.518G>C	4.37:g.70599210C>G	ENSP00000308770:p.Trp173Ser						p.W173S	NM_014465	NP_055280	O43704	ST1B1_HUMAN			6	816	-			173					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.518G>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571685	0.65765	.	.	ENSG00000173597	ENST00000310613	T	0.02236	4.38	4.64	4.64	0.57946	Sulfotransferase domain (1);	0.000000	0.49916	D	0.000126	T	0.24392	0.0591	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48801	-0.9003	10	0.87932	D	0	.	15.3861	0.74703	0.0:1.0:0.0:0.0	.	173	O43704	ST1B1_HUMAN	S	173	ENSP00000308770:W173S	ENSP00000308770:W173S	W	-	2	0	SULT1B1	70633799	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.690000	0.74567	2.310000	0.77875	0.313000	0.20887	TGG		PASS	0.294	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		37	76	37	76	---	---	---	---
CABS1	85438	broad.mit.edu	37	4	71201257	71201257	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:71201257G>A	ENST00000273936.5	+	1	575	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	167					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.K167K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCACACTAAAGGACAGCAGTG	0.433																																						uc003hff.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)AAG>AAA		testis development protein NYD-SP26							54.0	57.0	56.0					4																	71201257		2199	4299	6498	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201257G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.501G>A	4.37:g.71201257G>A							p.K167K	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	587	+		all_hematologic(202;0.196)	167					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.501G>A	CCDS3539.1																																																																																				PASS	0.433	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		9	48	9	48	---	---	---	---
PROL1	58503	broad.mit.edu	37	4	71275312	71275312	+	Silent	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:71275312A>T	ENST00000399575.2	+	3	441	c.267A>T	c.(265-267)ccA>ccT	p.P89P	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	89	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)	p.P89P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AACTCTTTCCATTGGAATCTA	0.423																																						uc003hfi.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(265-267)CCA>CCT		proline rich, lacrimal 1							230.0	214.0	219.0					4																	71275312		1872	4105	5977	SO:0001819	synonymous_variant	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275312A>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.267A>T	4.37:g.71275312A>T							p.P89P	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	441	+		all_hematologic(202;0.196)	89			Pro-rich.		A8MZ07|P85047	Silent	SNP	ENST00000399575.2	37	c.267A>T	CCDS43235.1																																																																																				PASS	0.423	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		30	189	30	189	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71510502	71510502	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:71510502C>A	ENST00000396073.3	+	9	3640	c.3359C>A	c.(3358-3360)cCa>cAa	p.P1120Q	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1120					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P1120Q(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAACACAGTCCATTTGAATTC	0.418																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3358-3360)CCA>CAA		enamelin precursor							90.0	82.0	85.0					4																	71510502		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510502C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3359C>A	4.37:g.71510502C>A	ENSP00000379383:p.Pro1120Gln						p.P1120Q	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3640	+			1120					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3359C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211825	0.39102	.	.	ENSG00000132464	ENST00000396073	T	0.53206	0.63	5.81	5.81	0.92471	.	0.474536	0.19943	N	0.102607	T	0.69575	0.3126	M	0.78049	2.395	0.28593	N	0.909529	D	0.65815	0.995	D	0.71870	0.975	T	0.66464	-0.5917	10	0.72032	D	0.01	0.3324	15.9279	0.79635	0.0:1.0:0.0:0.0	.	1120	Q9NRM1	ENAM_HUMAN	Q	1120	ENSP00000379383:P1120Q	ENSP00000379383:P1120Q	P	+	2	0	ENAM	71729366	0.331000	0.24713	0.956000	0.39512	0.191000	0.23601	1.020000	0.30027	2.906000	0.99361	0.655000	0.94253	CCA		PASS	0.418	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		11	50	11	50	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73003832	73003832	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:73003832C>T	ENST00000308744.6	+	3	808	c.710C>T	c.(709-711)aCg>aTg	p.T237M	NPFFR2_ENST00000358749.3_Missense_Mutation_p.T135M|NPFFR2_ENST00000395999.1_Missense_Mutation_p.T138M|NPFFR2_ENST00000344413.5_Silent_p.Y125Y	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	237					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.T237M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCAGTCTTTACGTTAGTTGCA	0.398																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(709-711)ACG>ATG		neuropeptide FF receptor 2 isoform 1							143.0	122.0	129.0					4																	73003832		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73003832C>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.710C>T	4.37:g.73003832C>T	ENSP00000307822:p.Thr237Met					NPFFR2_uc010iig.1_Missense_Mutation_p.T19M|NPFFR2_uc003hgi.2_Missense_Mutation_p.T138M|NPFFR2_uc003hgh.2_Missense_Mutation_p.T135M	p.T237M	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		3	808	+			237			Helical; Name=3; (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.710C>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152653	0.78001	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.39056	1.1;1.1;1.1	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.78929	0.4361	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87047	0.2144	10	0.87932	D	0	.	18.8518	0.92235	0.0:1.0:0.0:0.0	.	138;237	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	M	237;138;135	ENSP00000307822:T237M;ENSP00000379321:T138M;ENSP00000351599:T135M	ENSP00000307822:T237M	T	+	2	0	NPFFR2	73222696	1.000000	0.71417	0.850000	0.33497	0.657000	0.38888	7.280000	0.78610	2.623000	0.88846	0.557000	0.71058	ACG		PASS	0.398	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		5	22	5	22	---	---	---	---
NAA11	84779	broad.mit.edu	37	4	80246828	80246828	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:80246828C>A	ENST00000286794.4	-	1	376	c.204G>T	c.(202-204)ccG>ccT	p.P68P	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	68	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.P68P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TATGGCCATGCGGGACATCAT	0.582																																						uc003hlt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(202-204)CCG>CCT		alpha-N-acetyltransferase 1B							111.0	111.0	111.0					4																	80246828		2177	4289	6466	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246828C>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.204G>T	4.37:g.80246828C>A							p.P68P	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	344	-			68			N-acetyltransferase.		Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.204G>T	CCDS47084.1																																																																																				PASS	0.582	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			8	77	8	77	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83748545	83748545	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:83748545C>A	ENST00000395310.2	-	24	3450	c.3268G>T	c.(3268-3270)Gct>Tct	p.A1090S	SEC31A_ENST00000505472.1_Missense_Mutation_p.A1121S|SEC31A_ENST00000264405.5_Missense_Mutation_p.A839S|SEC31A_ENST00000509142.1_Missense_Mutation_p.A976S|SEC31A_ENST00000311785.7_Missense_Mutation_p.A976S|SEC31A_ENST00000326950.5_Missense_Mutation_p.A1051S|SEC31A_ENST00000355196.2_Missense_Mutation_p.A1090S|SEC31A_ENST00000448323.1_Missense_Mutation_p.A1090S|SEC31A_ENST00000432794.1_Missense_Mutation_p.A1103S|SEC31A_ENST00000348405.4_Missense_Mutation_p.A1051S|SEC31A_ENST00000508502.1_Missense_Mutation_p.A1075S|SEC31A_ENST00000505984.1_Missense_Mutation_p.A1036S|SEC31A_ENST00000500777.2_Missense_Mutation_p.A937S|SEC31A_ENST00000513858.1_Missense_Mutation_p.A937S|SEC31A_ENST00000443462.2_Missense_Mutation_p.A1070S	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1090	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.A1090S(1)|p.A1103S(1)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CCAATAGGAGCCCCTGGGGCA	0.443																																						uc003hnf.2																		SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3268-3270)GCT>TCT		SEC31 homolog A isoform 1							146.0	160.0	155.0					4																	83748545		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83748545C>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3268G>T	4.37:g.83748545C>A	ENSP00000378721:p.Ala1090Ser					SEC31A_uc003hnd.2_Missense_Mutation_p.A259S|SEC31A_uc003hne.2_Missense_Mutation_p.A839S|SEC31A_uc011ccl.1_Missense_Mutation_p.A1036S|SEC31A_uc003hnl.2_Missense_Mutation_p.A937S|SEC31A_uc003hng.2_Missense_Mutation_p.A1075S|SEC31A_uc003hnh.2_Missense_Mutation_p.A1090S|SEC31A_uc003hni.2_Missense_Mutation_p.A976S|SEC31A_uc003hnj.2_Missense_Mutation_p.A1051S|SEC31A_uc011ccm.1_Missense_Mutation_p.A1070S|SEC31A_uc011ccn.1_Missense_Mutation_p.A1075S|SEC31A_uc003hnk.2_Missense_Mutation_p.A1051S|SEC31A_uc003hnm.2_Missense_Mutation_p.A1090S	p.A1090S	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			24	3432	-		Hepatocellular(203;0.114)	1090			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.3268G>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.477458|4.477458	0.84640|0.84640	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984|ENST00000515062;ENST00000511338	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T;T	0.40756|0.62788	1.19;1.05;2.25;2.24;1.11;2.16;2.25;1.19;1.11;1.02;1.05;2.26;2.25;3.12;2.18|1.25;-0.0	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76608|0.76608	0.4011|0.4011	M|M	0.68317|0.68317	2.08|2.08	0.34500|0.34500	D|D	0.705975|0.705975	B;B;D;P;D;B;B;P;B|.	0.89917|.	0.265;0.104;1.0;0.465;1.0;0.239;0.335;0.897;0.147|.	B;B;D;B;D;B;B;P;B|.	0.83275|.	0.242;0.081;0.996;0.414;0.996;0.304;0.235;0.72;0.366|.	T|T	0.81899|0.81899	-0.0721|-0.0721	10|7	0.62326|0.72032	D|D	0.03|0.01	-17.5312|-17.5312	20.3081|20.3081	0.98638|0.98638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1070;1036;937;1051;976;1075;1090;839;1103|.	B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8|.	.;.;.;.;.;.;SC31A_HUMAN;.;.|.	S|V	1051;937;1090;1070;976;1103;1090;1051;976;1121;937;1075;1090;839;1036|74;186	ENSP00000337602:A1051S;ENSP00000426886:A937S;ENSP00000378721:A1090S;ENSP00000408027:A1070S;ENSP00000426569:A976S;ENSP00000407944:A1103S;ENSP00000400926:A1090S;ENSP00000325087:A1051S;ENSP00000309070:A976S;ENSP00000421633:A1121S;ENSP00000421464:A937S;ENSP00000424635:A1075S;ENSP00000347329:A1090S;ENSP00000264405:A839S;ENSP00000424451:A1036S|ENSP00000426943:G74V;ENSP00000425140:G186V	ENSP00000264405:A839S|ENSP00000425140:G186V	A|G	-|-	1|2	0|0	SEC31A|SEC31A	83967569|83967569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.584000|0.584000	0.36387|0.36387	6.844000|6.844000	0.75390|0.75390	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	GCT|GGC		PASS	0.443	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		53	124	53	124	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94377048	94377048	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:94377048G>T	ENST00000282020.4	+	11	2039	c.1781G>T	c.(1780-1782)cGa>cTa	p.R594L	GRID2_ENST00000510992.1_Missense_Mutation_p.R499L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	594					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.R594L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AATCCCCCACGATTACAAATG	0.443																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1780-1782)CGA>CTA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						210.0	188.0	195.0					4																	94377048		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94377048G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1781G>T	4.37:g.94377048G>T	ENSP00000282020:p.Arg594Leu					GRID2_uc011cdu.1_Missense_Mutation_p.R499L	p.R594L	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	2039	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	594			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1781G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278283	0.80692	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.53857	0.6;0.6	6.17	5.33	0.75918	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.121898	0.56097	N	0.000026	T	0.53094	0.1775	L	0.59912	1.85	0.80722	D	1	P;B	0.36282	0.546;0.321	B;B	0.35770	0.21;0.21	T	0.57631	-0.7778	10	0.66056	D	0.02	.	17.652	0.88167	0.0:0.123:0.877:0.0	.	499;594	E9PH24;O43424	.;GRID2_HUMAN	L	594;499	ENSP00000282020:R594L;ENSP00000421257:R499L	ENSP00000282020:R594L	R	+	2	0	GRID2	94596071	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	9.827000	0.99397	1.608000	0.50180	-0.176000	0.13171	CGA		PASS	0.443	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			22	53	22	53	---	---	---	---
ADH7	131	broad.mit.edu	37	4	100348953	100348953	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:100348953C>A	ENST00000209665.4	-	5	817	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ADH7_ENST00000476959.1_Missense_Mutation_p.G201C|ADH7_ENST00000482593.1_Missense_Mutation_p.G124C|ADH7_ENST00000437033.2_Missense_Mutation_p.G181C	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	193					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.G201C(1)|p.G193C(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ACAGCAGCGCCATATCCAGTG	0.408																																						uc003huv.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)	3						c.(577-579)GGC>TGC		class IV alcohol dehydrogenase, mu or sigma	NADH(DB00157)						89.0	81.0	84.0					4																	100348953		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100348953C>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.577G>T	4.37:g.100348953C>A	ENSP00000209665:p.Gly193Cys						p.G193C	NM_000673	NP_000664	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	5	676	-			193					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.577G>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226597	0.95173	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.81	3.97	0.46021	GroES-like (1);	0.050336	0.85682	D	0.000000	T	0.69700	0.3140	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83074	-0.0141	10	0.87932	D	0	-6.8953	13.1183	0.59311	0.0:0.9227:0.0:0.0773	.	193	P40394	ADH7_HUMAN	C	181;193;124;201	ENSP00000414254:G181C;ENSP00000209665:G193C;ENSP00000420613:G124C;ENSP00000420269:G201C	ENSP00000209665:G193C	G	-	1	0	ADH7	100567976	1.000000	0.71417	0.099000	0.21106	0.882000	0.50991	4.186000	0.58337	1.259000	0.44117	0.655000	0.94253	GGC		PASS	0.408	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		13	24	13	24	---	---	---	---
EMCN	51705	broad.mit.edu	37	4	101439008	101439008	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:101439008C>A	ENST00000296420.4	-	1	242	c.64G>T	c.(64-66)Ggt>Tgt	p.G22C	EMCN_ENST00000511970.1_Splice_Site_p.G22C|EMCN_ENST00000305864.3_Splice_Site_p.G22C|EMCN_ENST00000502327.1_5'UTR	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	22						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G22C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		ACAAAAATACCTGTGCTGTTA	0.443																																						uc003hvr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GGT>TGT		endomucin isoform 1							250.0	239.0	243.0					4																	101439008		2203	4300	6503	SO:0001630	splice_region_variant	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101439008C>A	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.64+1G>T	4.37:g.101439008C>A						EMCN_uc011cel.1_Missense_Mutation_p.G22C|EMCN_uc011cem.1_Missense_Mutation_p.G22C	p.G22C	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	1	243	-			22			Extracellular (Potential).		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.64G>T	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682746	0.47991	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000511970;ENST00000502569	.	.	.	4.54	4.54	0.55810	.	1.815050	0.03752	N	0.256735	T	0.51975	0.1706	N	0.14661	0.345	0.38940	D	0.95812	D;D;D	0.61697	0.99;0.983;0.983	P;P;P	0.51297	0.634;0.665;0.665	T	0.48625	-0.9019	8	.	.	.	8.2624	15.5885	0.76506	0.0:1.0:0.0:0.0	.	22;22;22	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	C	22	.	.	G	-	1	0	EMCN	101658031	0.997000	0.39634	0.992000	0.48379	0.084000	0.17831	1.368000	0.34216	2.508000	0.84585	0.655000	0.94253	GGT		PASS	0.443	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242	Missense_Mutation	25	106	25	106	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102751316	102751316	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:102751316A>C	ENST00000322953.4	+	2	696	c.422A>C	c.(421-423)cAg>cCg	p.Q141P	BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Missense_Mutation_p.Q126P|BANK1_ENST00000444316.2_Missense_Mutation_p.Q111P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	141	Interaction with ITPR2.				B cell activation (GO:0042113)			p.Q141P(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCAACTGAACAGGAACCTGAA	0.338																																						uc003hvy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(421-423)CAG>CCG		B-cell scaffold protein with ankyrin repeats 1							58.0	63.0	62.0					4																	102751316		2200	4299	6499	SO:0001583	missense	55024				B cell activation			g.chr4:102751316A>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.422A>C	4.37:g.102751316A>C	ENSP00000320509:p.Gln141Pro					BANK1_uc003hvx.3_Missense_Mutation_p.Q126P|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Missense_Mutation_p.Q111P	p.Q141P	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	2	696	+		Hepatocellular(203;0.217)	141			Interaction with ITPR2.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.422A>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796795	0.70567	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.09445	2.98;2.98;2.98	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000008	T	0.29321	0.0730	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.01152	-1.1435	10	0.62326	D	0.03	.	14.4797	0.67573	1.0:0.0:0.0:0.0	.	141;126	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	P	126;141;111	ENSP00000421443:Q126P;ENSP00000320509:Q141P;ENSP00000388817:Q111P	ENSP00000320509:Q141P	Q	+	2	0	BANK1	102970339	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.734000	0.62043	2.006000	0.58801	0.528000	0.53228	CAG		PASS	0.338	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		5	48	5	48	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997237	115997237	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:115997237C>A	ENST00000264363.2	-	2	1634	c.956G>T	c.(955-957)aGg>aTg	p.R319M		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	319	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.R319M(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACATTCATCCTTGTTCCCTC	0.363																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(955-957)AGG>ATG		heparan sulfate N-deacetylase/N-sulfotransferase							97.0	85.0	89.0					4																	115997237		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997237C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.956G>T	4.37:g.115997237C>A	ENSP00000264363:p.Arg319Met					NDST4_uc010imw.2_Intron	p.R319M	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1635	-		Ovarian(17;0.156)	319			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.956G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417971	0.83449	.	.	ENSG00000138653	ENST00000264363	T	0.51071	0.72	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82655	-0.0350	10	0.87932	D	0	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	319	Q9H3R1	NDST4_HUMAN	M	319	ENSP00000264363:R319M	ENSP00000264363:R319M	R	-	2	0	NDST4	116216686	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.746000	0.85057	2.727000	0.93392	0.591000	0.81541	AGG		PASS	0.363	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		19	47	19	47	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123175404	123175404	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:123175404C>A	ENST00000264501.4	+	38	6350	c.5977C>A	c.(5977-5979)Cct>Act	p.P1993T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1993T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1993T			Q2LD37	K1109_HUMAN	KIAA1109	1993	Poly-Pro.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1993T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGCCTCCTCCTCCAGATTC	0.373																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(5977-5979)CCT>ACT		fragile site-associated protein							117.0	105.0	109.0					4																	123175404		1852	4092	5944	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123175404C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5977C>A	4.37:g.123175404C>A	ENSP00000264501:p.Pro1993Thr					KIAA1109_uc003iel.1_5'Flank|KIAA1109_uc003iek.2_Missense_Mutation_p.P612T	p.P1993T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			36	6022	+			1993			Poly-Pro.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.5977C>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556278	0.65425	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.23147	2.52;2.52;1.92	5.36	5.36	0.76844	.	0.000000	0.51477	U	0.000095	T	0.42921	0.1224	L	0.47716	1.5	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.10941	-1.0608	10	0.08837	T	0.75	.	19.0871	0.93209	0.0:1.0:0.0:0.0	.	1992;1993	Q2LD37-2;Q2LD37	.;K1109_HUMAN	T	1993	ENSP00000264501:P1993T;ENSP00000373390:P1993T;ENSP00000389925:P1993T	ENSP00000264501:P1993T	P	+	1	0	KIAA1109	123394854	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.755000	0.85180	2.514000	0.84764	0.591000	0.81541	CCT		PASS	0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		15	68	15	68	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129809879	129809879	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:129809879C>T	ENST00000281142.5	-	20	2462	c.1959G>A	c.(1957-1959)agG>agA	p.R653R	SCLT1_ENST00000503215.1_Silent_p.R249R|SCLT1_ENST00000434680.1_Silent_p.R272R|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Silent_p.R140R	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	653					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.R653R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GACTTAGACGCCTTTGAAGTC	0.388																																						uc003igp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1957-1959)AGG>AGA		sodium channel associated protein 1							148.0	138.0	141.0					4																	129809879		2203	4300	6503	SO:0001819	synonymous_variant	132320					centrosome		g.chr4:129809879C>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1959G>A	4.37:g.129809879C>T						SCLT1_uc003ign.2_Silent_p.R317R|SCLT1_uc003igo.2_Silent_p.R263R|SCLT1_uc003igq.2_Silent_p.R272R|SCLT1_uc010iob.1_Silent_p.R140R	p.R653R	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			20	2465	-			653			Potential.		A4QN04|Q0VAH2|Q6P2M4	Silent	SNP	ENST00000281142.5	37	c.1959G>A	CCDS3740.1																																																																																				PASS	0.388	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		4	74	4	74	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134076104	134076104	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:134076104C>A	ENST00000264360.5	+	3	3549	c.2723C>A	c.(2722-2724)tCt>tAt	p.S908Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	908					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S908Y(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATAGTAAGCTCTAAGGACAGT	0.423																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2722-2724)TCT>TAT		protocadherin 10 isoform 1 precursor							128.0	124.0	125.0					4																	134076104		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134076104C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2723C>A	4.37:g.134076104C>A	ENSP00000264360:p.Ser908Tyr						p.S908Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	3	3549	+			908			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2723C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932893	0.92458	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	5.55	5.55	0.83447	.	0.000000	0.42821	D	0.000657	T	0.58708	0.2141	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.59440	-0.7454	10	0.56958	D	0.05	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	908	Q9P2E7	PCD10_HUMAN	Y	908	ENSP00000264360:S908Y	ENSP00000264360:S908Y	S	+	2	0	PCDH10	134295554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.603000	0.67619	2.885000	0.99019	0.655000	0.94253	TCT		PASS	0.423	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	15	11	15	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141590948	141590948	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:141590948C>T	ENST00000442267.2	-	8	1351	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	426							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R426Q(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGCTGGGTCGAGAGTACAC	0.522																																						uc010ioj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1276-1278)CGA>CAA		TBC1 domain family, member 9 (with GRAM domain)							55.0	59.0	58.0					4																	141590948		2058	4205	6263	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141590948C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1277G>A	4.37:g.141590948C>T	ENSP00000411197:p.Arg426Gln						p.R426Q	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			8	1549	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	426					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1277G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136175	0.56936	.	.	ENSG00000109436	ENST00000442267	T	0.08102	3.13	5.31	5.31	0.75309	.	0.053827	0.85682	D	0.000000	T	0.06280	0.0162	N	0.12746	0.255	0.51482	D	0.999926	B	0.18863	0.031	B	0.09377	0.004	T	0.44772	-0.9306	10	0.19147	T	0.46	.	19.3416	0.94344	0.0:1.0:0.0:0.0	.	426	Q6ZT07	TBCD9_HUMAN	Q	426	ENSP00000411197:R426Q	ENSP00000411197:R426Q	R	-	2	0	TBC1D9	141810398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.465000	0.66725	2.631000	0.89168	0.655000	0.94253	CGA		PASS	0.522	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		5	16	5	16	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146436166	146436166	+	Splice_Site	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:146436166G>T	ENST00000515385.1	+	2	942		c.e2+1		SMAD1_ENST00000394092.2_Splice_Site|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000302085.4_Splice_Site			Q15797	SMAD1_HUMAN	SMAD family member 1						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.?(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GAAAGCCCTGGTAAGTGAGTT	0.388																																					Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2+1		Sma- and Mad-related protein 1							171.0	175.0	174.0					4																	146436166		2203	4300	6503	SO:0001630	splice_region_variant	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146436166G>T	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.400+1G>T	4.37:g.146436166G>T						SMAD1_uc003ikd.2_Splice_Site_p.V134_splice|SMAD1_uc010iov.2_Splice_Site_p.V134_splice|SMAD1_uc011cic.1_Splice_Site_p.V134_splice	p.V134_splice	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			2	816	+	all_hematologic(180;0.151)							A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Splice_Site	SNP	ENST00000515385.1	37	c.400_splice	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243615	0.79912	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3243	0.94254	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMAD1	146655616	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	.		PASS	0.388	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900	Intron	16	104	16	104	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151773088	151773088	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:151773088C>T	ENST00000357115.3	-	23	4017	c.3774G>A	c.(3772-3774)ttG>ttA	p.L1258L	LRBA_ENST00000510413.1_Silent_p.L1258L|LRBA_ENST00000507224.1_Silent_p.L1258L|LRBA_ENST00000535741.1_Silent_p.L1258L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1258						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.L1258L(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)					GACTGGCCTTCAACTCCAGCC	0.413																																						uc010ipj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(3772-3774)TTG>TTA		LPS-responsive vesicle trafficking, beach and							90.0	83.0	85.0					4																	151773088		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773088C>T	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.3774G>A	4.37:g.151773088C>T						LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Silent_p.L1258L	p.L1258L	NM_006726	NP_006717	P50851	LRBA_HUMAN			23	4248	-	all_hematologic(180;0.151)		1258					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.3774G>A	CCDS3773.1																																																																																				PASS	0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			6	26	6	26	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156647	155156647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:155156647G>A	ENST00000357232.4	-	25	7791	c.7792C>T	c.(7792-7794)Cag>Tag	p.Q2598*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2598					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q2598*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCAGTTTTCTGGAAGGCTTTG	0.433																																						uc003inw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(7792-7794)CAG>TAG		dachsous 2 isoform 1							123.0	125.0	124.0					4																	155156647		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156647G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7792C>T	4.37:g.155156647G>A	ENSP00000349768:p.Gln2598*						p.Q2598*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7792	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2598					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.7792C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	44	11.114389	0.99518	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.82	5.82	0.92795	.	0.275518	0.31279	N	0.007922	.	.	.	.	.	.	0.21527	N	0.99966	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	.	.	.	X	2598	.	ENSP00000349768:Q2598X	Q	-	1	0	DCHS2	155376097	0.586000	0.26782	0.025000	0.17156	0.231000	0.25187	2.781000	0.47750	2.753000	0.94483	0.467000	0.42956	CAG		PASS	0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		16	79	16	79	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169227871	169227871	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:169227871C>A	ENST00000393743.3	-	5	556	c.265G>T	c.(265-267)Gat>Tat	p.D89Y		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	89					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.D89Y(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TACTCGGCATCCTGTGGAGGA	0.358																																						uc003irp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(265-267)GAT>TAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							53.0	54.0	54.0					4																	169227871		2203	4300	6503	SO:0001630	splice_region_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227871C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.265-1G>T	4.37:g.169227871C>A							p.D89Y	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	557	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	89					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.265G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785068	0.49997	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.22336	1.96	5.21	5.21	0.72293	.	0.091825	0.47093	D	0.000248	T	0.48840	0.1522	M	0.76328	2.33	0.47183	D	0.999349	D	0.89917	1.0	D	0.74023	0.982	T	0.50841	-0.8780	10	0.72032	D	0.01	.	18.7054	0.91635	0.0:1.0:0.0:0.0	.	89	Q8IY21	DDX60_HUMAN	Y	89	ENSP00000377344:D89Y	ENSP00000377344:D89Y	D	-	1	0	DDX60	169464446	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	4.871000	0.63042	2.573000	0.86826	0.563000	0.77884	GAT		PASS	0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	Missense_Mutation	13	35	13	35	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186510909	186510909	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:186510909C>T	ENST00000284776.7	-	20	3674	c.3165G>A	c.(3163-3165)agG>agA	p.R1055R	SORBS2_ENST00000449407.2_Silent_p.R599R|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000355634.5_Silent_p.R1155R|SORBS2_ENST00000448662.2_Silent_p.R616R|SORBS2_ENST00000393528.3_Silent_p.R621R|SORBS2_ENST00000319471.9_Silent_p.R686R|SORBS2_ENST00000431808.1_Silent_p.R1055R|SORBS2_ENST00000437304.2_Silent_p.R779R|SORBS2_ENST00000418609.1_Silent_p.R959R	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1055	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.R779R(1)|p.R1055R(1)|p.R616R(1)|p.R621R(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CATCTTCATTCCTGGGAGTAT	0.413																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(3163-3165)AGG>AGA		sorbin and SH3 domain containing 2 isoform 2							190.0	177.0	181.0					4																	186510909		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186510909C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3165G>A	4.37:g.186510909C>T						SORBS2_uc003iyh.2_Silent_p.R779R|SORBS2_uc011ckw.1_Silent_p.R616R|SORBS2_uc003iyi.2_Silent_p.R686R|SORBS2_uc011ckx.1_Silent_p.R621R|SORBS2_uc003iyk.2_Silent_p.R599R|SORBS2_uc003iym.2_Silent_p.R1155R|SORBS2_uc003iyn.1_Silent_p.R646R|SORBS2_uc011cku.1_Silent_p.R447R|SORBS2_uc011ckv.1_Silent_p.R959R|SORBS2_uc003iyd.2_Silent_p.R754R|SORBS2_uc003iye.2_Silent_p.R628R|SORBS2_uc003iya.2_Silent_p.R575R|SORBS2_uc003iyb.2_Silent_p.R528R|SORBS2_uc003iyc.2_Silent_p.R508R|SORBS2_uc003iyg.2_Silent_p.R1169R|SORBS2_uc003iyf.2_Silent_p.R591R	p.R1055R	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	4023	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1055			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.3165G>A	CCDS3845.1																																																																																				PASS	0.413	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		27	67	27	67	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189020189	189020189	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:189020189C>A	ENST00000512729.1	-	4	845	c.471G>T	c.(469-471)aaG>aaT	p.K157N	TRIML2_ENST00000326754.3_Splice_Site_p.K157N|TRIML2_ENST00000536972.1_Missense_Mutation_p.K207N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	157					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.K157N(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGCATCTTACCTTGAGCAATG	0.453																																						uc003izl.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(2)	2						c.(469-471)AAG>AAT		tripartite motif family-like 2							73.0	69.0	70.0					4																	189020189		2203	4300	6503	SO:0001630	splice_region_variant	205860						ligase activity	g.chr4:189020189C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.471+1G>T	4.37:g.189020189C>A						TRIML2_uc003izj.1_Translation_Start_Site|TRIML2_uc003izk.1_Translation_Start_Site|TRIML2_uc011cle.1_Missense_Mutation_p.K207N|TRIML2_uc011clf.1_Missense_Mutation_p.K207N	p.K157N	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	4	507	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	157					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.471G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382954	0.25031	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.58797	3.53;0.31;3.73	4.56	3.71	0.42584	.	0.974842	0.08369	N	0.956422	T	0.45418	0.1341	L	0.27053	0.805	0.28562	N	0.911094	P;P;B	0.35328	0.48;0.495;0.276	B;B;B	0.31614	0.133;0.09;0.062	T	0.43734	-0.9373	10	0.87932	D	0	.	10.8458	0.46743	0.0:0.8094:0.1906:0.0	.	207;157;157	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	N	157;157;207	ENSP00000422581:K157N;ENSP00000317498:K157N;ENSP00000441236:K207N	ENSP00000317498:K157N	K	-	3	2	TRIML2	189257183	1.000000	0.71417	0.997000	0.53966	0.268000	0.26511	0.685000	0.25378	1.262000	0.44165	0.650000	0.86243	AAG		PASS	0.453	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	Missense_Mutation	10	31	10	31	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190883076	190883076	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr4:190883076G>T	ENST00000226798.4	+	8	951	c.729G>T	c.(727-729)acG>acT	p.T243T		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	243					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T243T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGCATGAGACGCTTCTGGACA	0.328																																						uc003izs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)ACG>ACT		FSHD region gene 1							74.0	91.0	86.0					4																	190883076		2149	4182	6331	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190883076G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.729G>T	4.37:g.190883076G>T							p.T243T	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	8	920	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	243			Bipartite nuclear localization signal (Potential).		A8K775	Silent	SNP	ENST00000226798.4	37	c.729G>T	CCDS34121.1																																																																																				PASS	0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		24	74	24	74	---	---	---	---
CLPTM1L	81037	broad.mit.edu	37	5	1344486	1344486	+	Silent	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:1344486A>G	ENST00000320895.5	-	2	500	c.243T>C	c.(241-243)gaT>gaC	p.D81D	CLPTM1L_ENST00000507807.1_5'Flank|CLPTM1L_ENST00000320927.6_Silent_p.D81D	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	81					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D81D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGGACTCCACATCAAAGTCTT	0.473																																						uc003jch.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(241-243)GAT>GAC		CLPTM1-like							95.0	85.0	88.0					5																	1344486		2203	4299	6502	SO:0001819	synonymous_variant	81037				apoptosis	integral to membrane		g.chr5:1344486A>G	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.243T>C	5.37:g.1344486A>G						CLPTM1L_uc003jcg.2_5'Flank	p.D81D	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	2	289	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		81			Extracellular (Potential).		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	c.243T>C	CCDS3862.1																																																																																				PASS	0.473	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		5	59	5	59	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1403118	1403118	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:1403118C>A	ENST00000270349.9	-	13	1813	c.1686G>T	c.(1684-1686)tgG>tgT	p.W562C	SLC6A3_ENST00000453492.2_Missense_Mutation_p.W562C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	562	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.W562C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGCGATGACCCAGCCCAGCG	0.612																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(1684-1686)TGG>TGT		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						82.0	66.0	72.0					5																	1403118		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403118C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1686G>T	5.37:g.1403118C>A	ENSP00000270349:p.Trp562Cys						p.W562C	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1807	-			562			Helical; Name=12; (Potential).|Interaction with TGFB1I1.		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1686G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	18.59	3.656496	0.67586	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.76316	-1.01;-1.01	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94474	0.7687	10	0.87932	D	0	.	14.0283	0.64599	0.0:1.0:0.0:0.0	.	562	Q01959	SC6A3_HUMAN	C	562	ENSP00000270349:W562C;ENSP00000399806:W562C	ENSP00000270349:W562C	W	-	3	0	SLC6A3	1456118	1.000000	0.71417	0.908000	0.35775	0.838000	0.47535	6.908000	0.75730	1.905000	0.55150	0.298000	0.19748	TGG		PASS	0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		11	43	11	43	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1422081	1422081	+	Silent	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:1422081C>G	ENST00000270349.9	-	5	829	c.702G>C	c.(700-702)ggG>ggC	p.G234G	SLC6A3_ENST00000453492.2_Silent_p.G234G	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	234					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.G234G(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACCGCGGAGGCCCCAGGTCGT	0.657																																						uc003jck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(700-702)GGG>GGC		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						75.0	70.0	72.0					5																	1422081		2202	4300	6502	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422081C>G		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.702G>C	5.37:g.1422081C>G							p.G234G	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	823	-			234			Extracellular (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.702G>C	CCDS3863.1																																																																																				PASS	0.657	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		71	68	71	68	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10411539	10411539	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:10411539G>A	ENST00000274140.5	+	19	1918	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	MARCH6_ENST00000503788.1_Missense_Mutation_p.A491T|MARCH6_ENST00000449913.2_Missense_Mutation_p.A548T|MARCH6_ENST00000510792.1_Missense_Mutation_p.A294T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	596					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A596T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AAATAACAACGCTATTCCTGT	0.458																																						uc003jet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1786-1788)GCT>ACT		membrane-associated ring finger (C3HC4) 6							122.0	110.0	114.0					5																	10411539		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10411539G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1786G>A	5.37:g.10411539G>A	ENSP00000274140:p.Ala596Thr					MARCH6_uc011cmu.1_Missense_Mutation_p.A548T|MARCH6_uc003jeu.1_Missense_Mutation_p.A294T|MARCH6_uc011cmv.1_Missense_Mutation_p.A491T	p.A596T	NM_005885	NP_005876	O60337	MARH6_HUMAN			19	1969	+			596			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1786G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269051	0.40095	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.29	5.29	0.74685	.	0.056211	0.64402	D	0.000001	T	0.20901	0.0503	L	0.39898	1.24	0.80722	D	1	P;P;B;B	0.41710	0.501;0.76;0.281;0.368	B;B;B;B	0.25614	0.062;0.041;0.042;0.017	T	0.10965	-1.0607	10	0.10111	T	0.7	-12.6806	19.2987	0.94134	0.0:0.0:1.0:0.0	.	491;548;176;596	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	T	548;491;596;294	ENSP00000414643:A548T;ENSP00000425930:A491T;ENSP00000274140:A596T;ENSP00000424512:A294T	ENSP00000274140:A596T	A	+	1	0	MARCH6	10464539	1.000000	0.71417	0.082000	0.20525	0.854000	0.48673	7.046000	0.76592	2.639000	0.89480	0.462000	0.41574	GCT		PASS	0.458	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		27	41	27	41	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16769217	16769217	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:16769217G>A	ENST00000513610.1	-	10	1480	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	342	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.I342I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACCAGCAGTGATAAATTCTA	0.493																																						uc003jft.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1024-1026)ATC>ATT		myosin X							95.0	94.0	94.0					5																	16769217		1960	4162	6122	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16769217G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1026C>T	5.37:g.16769217G>A						MYO10_uc010itx.2_5'Flank	p.I342I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			10	1494	-			342			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.1026C>T	CCDS54834.1																																																																																				PASS	0.493	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		4	16	4	16	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24537582	24537582	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:24537582C>T	ENST00000264463.4	-	3	940	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	145	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E145K(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)		ATCACAAACTCTGACTCTGGC	0.423										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(433-435)GAG>AAG		cadherin 10, type 2 preproprotein							156.0	150.0	152.0					5																	24537582		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.chr5:24537582C>T	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.433G>A	5.37:g.24537582C>T	ENSP00000264463:p.Glu145Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.E145K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	765	-			145			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.433G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366713	0.95900	.	.	ENSG00000040731	ENST00000264463	T	0.52057	0.68	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.78456	2.415	0.58432	D	0.999993	D	0.71674	0.998	P	0.60609	0.877	T	0.71629	-0.4535	10	0.87932	D	0	.	19.0796	0.93177	0.0:1.0:0.0:0.0	.	145	Q9Y6N8	CAD10_HUMAN	K	145	ENSP00000264463:E145K	ENSP00000264463:E145K	E	-	1	0	CDH10	24573339	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.758000	0.94735	0.557000	0.71058	GAG		PASS	0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		37	72	37	72	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31466304	31466304	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:31466304C>A	ENST00000511367.2	-	18	2695	c.2451G>T	c.(2449-2451)aaG>aaT	p.K817N	DROSHA_ENST00000442743.1_Missense_Mutation_p.K780N|DROSHA_ENST00000513349.1_Missense_Mutation_p.K780N|DROSHA_ENST00000344624.3_Missense_Mutation_p.K817N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	817	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.K817N(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCTGTGCCAGCTTCTGTTTGT	0.418																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2449-2451)AAG>AAT		ribonuclease III, nuclear isoform 1							181.0	167.0	171.0					5																	31466304		1905	4122	6027	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31466304C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2451G>T	5.37:g.31466304C>A	ENSP00000425979:p.Lys817Asn					RNASEN_uc003jhh.2_Missense_Mutation_p.K780N|RNASEN_uc003jhi.2_Missense_Mutation_p.K780N	p.K817N	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			18	2810	-			817			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2451G>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969906	0.74246	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.56776	1.05;1.05;0.44;0.44	5.55	4.69	0.59074	.	0.046804	0.85682	D	0.000000	T	0.58864	0.2152	M	0.61703	1.905	0.80722	D	1	D;D	0.58970	0.984;0.972	P;P	0.54924	0.764;0.764	T	0.62817	-0.6774	10	0.87932	D	0	-31.7355	6.9072	0.24315	0.0:0.7735:0.0:0.2265	.	780;817	E7EMP9;Q9NRR4	.;RNC_HUMAN	N	817;817;780;780;742;773	ENSP00000425979:K817N;ENSP00000339845:K817N;ENSP00000409335:K780N;ENSP00000424161:K780N	ENSP00000265075:K742N	K	-	3	2	DROSHA	31502061	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.132000	0.42083	1.587000	0.49959	0.655000	0.94253	AAG		PASS	0.418	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		26	45	26	45	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37348656	37348656	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:37348656C>A	ENST00000231498.3	-	9	1149	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S	NUP155_ENST00000381843.2_Missense_Mutation_p.A257S|NUP155_ENST00000513532.1_Missense_Mutation_p.A316S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	316					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.A316S(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACACAGAGGCAACTCTGCTC	0.338																																						uc003jku.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(946-948)GCC>TCC		nucleoporin 155kDa isoform 1							137.0	124.0	129.0					5																	37348656		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37348656C>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.946G>T	5.37:g.37348656C>A	ENSP00000231498:p.Ala316Ser					NUP155_uc003jkt.1_Missense_Mutation_p.A257S|NUP155_uc010iuz.1_Missense_Mutation_p.A316S	p.A316S	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1064	-	all_lung(31;0.000137)		316					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.946G>T	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559012	0.65538	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.41065	1.01;1.01;1.01	5.84	5.84	0.93424	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.047743	0.85682	D	0.000000	T	0.41949	0.1181	L	0.35644	1.08	0.54753	D	0.999984	B;B	0.31227	0.149;0.314	B;B	0.43360	0.1;0.417	T	0.16630	-1.0396	10	0.15952	T	0.53	-1.1533	13.7845	0.63102	0.0:0.9213:0.0:0.0787	.	316;316	E9PF10;O75694	.;NU155_HUMAN	S	316;257;278;316	ENSP00000231498:A316S;ENSP00000371265:A257S;ENSP00000422019:A316S	ENSP00000231498:A316S	A	-	1	0	NUP155	37384413	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.491000	0.53252	2.764000	0.94973	0.650000	0.86243	GCC		PASS	0.338	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		10	69	10	69	---	---	---	---
C6	729	broad.mit.edu	37	5	41181519	41181519	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:41181519C>A	ENST00000263413.3	-	7	1133	c.869G>T	c.(868-870)aGt>aTt	p.S290I	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.S290I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	290	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.S290I(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)				GATATTTTCACTTCTCTTTGA	0.358																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(868-870)AGT>ATT		complement component 6 precursor							118.0	118.0	118.0					5																	41181519		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181519C>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.869G>T	5.37:g.41181519C>A	ENSP00000263413:p.Ser290Ile					C6_uc003jml.1_Missense_Mutation_p.S290I	p.S290I	NM_000065	NP_000056	P13671	CO6_HUMAN			7	1079	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	290			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.869G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029863	0.54790	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61742	0.08;0.08	6.16	-3.6	0.04570	Membrane attack complex component/perforin (MACPF) domain (1);	0.917629	0.09601	N	0.780153	T	0.52125	0.1715	M	0.74881	2.28	0.09310	N	1	P	0.44946	0.846	B	0.40009	0.316	T	0.52434	-0.8576	10	0.62326	D	0.03	7.0E-4	7.8324	0.29351	0.0:0.2697:0.2067:0.5237	.	290	P13671	CO6_HUMAN	I	290	ENSP00000338861:S290I;ENSP00000263413:S290I	ENSP00000263413:S290I	S	-	2	0	C6	41217276	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.699000	0.05087	-0.550000	0.06183	0.650000	0.86243	AGT		PASS	0.358	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			22	84	22	84	---	---	---	---
ISL1	3670	broad.mit.edu	37	5	50683438	50683438	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:50683438C>A	ENST00000230658.7	+	3	918	c.333C>A	c.(331-333)agC>agA	p.S111R	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.S111R	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	111	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.S111R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGGCCTGCAGCCGCCAGCTCA	0.612																																						uc003jor.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(331-333)AGC>AGA		islet-1							50.0	54.0	53.0					5																	50683438		2093	4217	6310	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50683438C>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.333C>A	5.37:g.50683438C>A	ENSP00000230658:p.Ser111Arg						p.S111R	NM_002202	NP_002193	P61371	ISL1_HUMAN			3	881	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	111			LIM zinc-binding 2.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.333C>A	CCDS43314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.611988|3.611988	0.66558|0.66558	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000505475|ENST00000230658;ENST00000503187;ENST00000511384	.|D;D	.|0.87334	.|-2.24;-2.24	5.61|5.61	2.87|2.87	0.33458|0.33458	.|Zinc finger, LIM-type (5);	.|0.130527	.|0.64402	.|D	.|0.000001	D|D	0.86410|0.86410	0.5926|0.5926	L|L	0.52905|0.52905	1.665|1.665	0.48395|0.48395	D|D	0.999647|0.999647	.|P	.|0.36222	.|0.544	.|P	.|0.45794	.|0.493	D|D	0.84540|0.84540	0.0638|0.0638	6|10	0.87932|0.59425	D|D	0|0.04	.|.	9.1386|9.1386	0.36890|0.36890	0.0:0.7143:0.0:0.2857|0.0:0.7143:0.0:0.2857	.|.	.|111	.|P61371	.|ISL1_HUMAN	T|R	58|111	.|ENSP00000230658:S111R;ENSP00000422676:S111R	ENSP00000421737:P58T|ENSP00000230658:S111R	P|S	+|+	1|3	0|2	ISL1|ISL1	50719195|50719195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.058000|2.058000	0.41374|0.41374	0.757000|0.757000	0.33036|0.33036	0.505000|0.505000	0.49811|0.49811	CCG|AGC		PASS	0.612	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		13	35	13	35	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52206169	52206169	+	Missense_Mutation	SNP	G	G	C	rs536688369		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:52206169G>C	ENST00000282588.6	+	14	2235	c.1777G>C	c.(1777-1779)Gct>Cct	p.A593P		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	593					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.A593P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CGTGATAGGAGCTCCGCTGGA	0.428																																						uc003jou.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1777-1779)GCT>CCT		integrin, alpha 1 precursor							89.0	90.0	90.0					5																	52206169		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52206169G>C	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1777G>C	5.37:g.52206169G>C	ENSP00000282588:p.Ala593Pro					ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.A124P	p.A593P	NM_181501	NP_852478	P56199	ITA1_HUMAN			14	1829	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	593			Extracellular (Potential).|FG-GAP 6.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1777G>C	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328647	0.81690	.	.	ENSG00000213949	ENST00000282588	T	0.25250	1.81	6.02	5.1	0.69264	.	0.051315	0.85682	D	0.000000	T	0.68393	0.2996	H	0.98802	4.335	0.52501	D	0.999958	D	0.89917	1.0	D	0.81914	0.995	T	0.81178	-0.1051	10	0.87932	D	0	.	15.4225	0.75025	0.0:0.0:0.7892:0.2108	.	593	P56199	ITA1_HUMAN	P	593	ENSP00000282588:A593P	ENSP00000282588:A593P	A	+	1	0	ITGA1	52241926	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.815000	0.62634	2.850000	0.98022	0.650000	0.86243	GCT		PASS	0.428	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		34	23	34	23	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52377486	52377486	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:52377486T>A	ENST00000296585.5	+	26	3247	c.3104T>A	c.(3103-3105)gTa>gAa	p.V1035E		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1035					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|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)|virus receptor activity (GO:0001618)	p.V1035E(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTCTTCTGTATCTTTCAAA	0.393																																						uc003joy.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(3103-3105)GTA>GAA		integrin alpha 2 precursor							94.0	88.0	90.0					5																	52377486		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52377486T>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3104T>A	5.37:g.52377486T>A	ENSP00000296585:p.Val1035Glu					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V959E|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.V1035E	NM_002203	NP_002194	P17301	ITA2_HUMAN			26	3247	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	1035			Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.3104T>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487980	0.44249	.	.	ENSG00000164171	ENST00000296585	T	0.44482	0.92	6.08	2.51	0.30379	Integrin alpha-2 (1);	0.463132	0.22860	N	0.054753	T	0.18759	0.0450	N	0.08118	0	0.09310	N	0.999997	B	0.29805	0.257	B	0.34536	0.185	T	0.32322	-0.9911	10	0.02654	T	1	.	8.276	0.31873	0.0:0.2552:0.0:0.7448	.	1035	P17301	ITA2_HUMAN	E	1035	ENSP00000296585:V1035E	ENSP00000296585:V1035E	V	+	2	0	ITGA2	52413243	0.034000	0.19679	0.978000	0.43139	0.853000	0.48598	0.982000	0.29539	1.117000	0.41842	0.533000	0.62120	GTA		PASS	0.393	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		7	38	7	38	---	---	---	---
CD180	4064	broad.mit.edu	37	5	66479329	66479329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:66479329G>A	ENST00000256447.4	-	3	1499	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	448					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q448*(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTCAGAACCTGAAGGAAATGG	0.448																																						uc003juy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1342-1344)CAG>TAG		CD180 molecule precursor							158.0	166.0	163.0					5																	66479329		2203	4300	6503	SO:0001587	stop_gained	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479329G>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1342C>T	5.37:g.66479329G>A	ENSP00000256447:p.Gln448*						p.Q448*	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1490	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	448			Extracellular (Potential).|LRR 15.		B2R7Z7|Q32MM5	Nonsense_Mutation	SNP	ENST00000256447.4	37	c.1342C>T	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406694	0.83230	.	.	ENSG00000134061	ENST00000256447	.	.	.	5.0	1.97	0.26223	.	0.697244	0.12524	N	0.461425	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.3786	0.60754	0.0:0.0:0.4415:0.5585	.	.	.	.	X	448	.	ENSP00000256447:Q448X	Q	-	1	0	CD180	66515085	0.018000	0.18449	0.673000	0.29887	0.732000	0.41865	0.945000	0.29056	0.638000	0.30545	-0.309000	0.09137	CAG		PASS	0.448	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		30	38	30	38	---	---	---	---
CCNB1	891	broad.mit.edu	37	5	68470119	68470119	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:68470119A>C	ENST00000256442.5	+	5	841	c.588A>C	c.(586-588)gaA>gaC	p.E196D	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)	p.E196D(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGGGTCGGGAAGTCACTGGAA	0.418																																						uc003jvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GAA>GAC		cyclin B1							184.0	170.0	175.0					5																	68470119		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470119A>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.588A>C	5.37:g.68470119A>C	ENSP00000256442:p.Glu196Asp					CCNB1_uc011crd.1_Missense_Mutation_p.E196D|CCNB1_uc010ixb.2_Missense_Mutation_p.E196D	p.E196D	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	5	765	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	196					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.588A>C	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549704	0.45383	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	6.16	3.78	0.43462	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	N	0.26042	0.785	0.58432	D	0.999999	B;B;B	0.22604	0.072;0.002;0.0	B;B;B	0.34385	0.181;0.014;0.003	T	0.25222	-1.0138	10	0.13108	T	0.6	.	3.8597	0.08990	0.6357:0.0:0.2173:0.147	.	196;196;196	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	D	196;196;196;12	ENSP00000256442:E196D;ENSP00000423387:E196D;ENSP00000424588:E196D;ENSP00000426230:E12D	ENSP00000256442:E196D	E	+	3	2	CCNB1	68505875	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.337000	0.33862	0.556000	0.29098	0.528000	0.53228	GAA		PASS	0.418	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		31	41	31	41	---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102895085	102895085	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:102895085T>A	ENST00000230792.2	-	3	387	c.291A>T	c.(289-291)ttA>ttT	p.L97F	NUDT12_ENST00000507423.1_Missense_Mutation_p.L79F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	97					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)	p.L97F(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CAGTAGCTAGTAAATTAGCTA	0.383																																						uc003koi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)TTA>TTT		nudix-type motif 12							55.0	58.0	57.0					5																	102895085		2201	4299	6500	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102895085T>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.291A>T	5.37:g.102895085T>A	ENSP00000230792:p.Leu97Phe					NUDT12_uc011cvb.1_Missense_Mutation_p.L79F	p.L97F	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	3	384	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	97			ANK 3.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.291A>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595558	0.46318	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.68624	-0.34;1.19	6.16	3.69	0.42338	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.27053	0.805	0.49582	D	0.999802	P;D	0.56968	0.954;0.978	P;P	0.55055	0.454;0.767	T	0.58891	-0.7556	10	0.34782	T	0.22	-7.4879	9.1517	0.36967	0.0:0.2347:0.0:0.7653	.	79;97	E7EM93;Q9BQG2	.;NUD12_HUMAN	F	97;79	ENSP00000230792:L97F;ENSP00000424521:L79F	ENSP00000230792:L97F	L	-	3	2	NUDT12	102922984	0.977000	0.34250	0.996000	0.52242	0.626000	0.37791	0.547000	0.23299	1.104000	0.41587	0.528000	0.53228	TTA		PASS	0.383	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		21	28	21	28	---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132034944	132034944	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:132034944T>C	ENST00000378746.4	-	16	2188	c.1970A>G	c.(1969-1971)gAg>gGg	p.E657G	KIF3A_ENST00000487055.1_5'Flank|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.E684G|KIF3A_ENST00000378735.1_Missense_Mutation_p.E660G	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	657					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.E657G(1)|p.E660G(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGACTCTCCTCAGTATAGGC	0.433																																						uc003kxo.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1969-1971)GAG>GGG		kinesin family member 3A							188.0	162.0	170.0					5																	132034944		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132034944T>C	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1970A>G	5.37:g.132034944T>C	ENSP00000368020:p.Glu657Gly					KIF3A_uc003kxm.2_Missense_Mutation_p.E239G|KIF3A_uc003kxn.2_Missense_Mutation_p.E642G|KIF3A_uc011cxf.1_Missense_Mutation_p.E684G|KIF3A_uc003kxp.2_Missense_Mutation_p.E660G	p.E657G	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2124	-		all_cancers(142;0.0751)|Breast(839;0.198)	657					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1970A>G	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437471	0.62955	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	L	0.33485	1.01	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	D;D;D;D	0.65140	0.932;0.932;0.932;0.932	T	0.01218	-1.1415	10	0.32370	T	0.25	.	16.5044	0.84266	0.0:0.0:0.0:1.0	.	684;684;657;683	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	G	657;660;684;143;684	ENSP00000368020:E657G;ENSP00000368009:E660G;ENSP00000405619:E143G;ENSP00000385808:E684G	ENSP00000368009:E660G	E	-	2	0	KIF3A	132062843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.037000	0.88933	2.295000	0.77249	0.528000	0.53228	GAG		PASS	0.433	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		44	61	44	61	---	---	---	---
H2AFY	9555	broad.mit.edu	37	5	134724704	134724704	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:134724704C>A	ENST00000511689.1	-	2	673	c.80G>T	c.(79-81)cGg>cTg	p.R27L	H2AFY_ENST00000304332.4_Missense_Mutation_p.R27L|H2AFY_ENST00000510038.1_Missense_Mutation_p.R27L|H2AFY_ENST00000423969.2_Missense_Mutation_p.R27L|H2AFY_ENST00000312469.4_Missense_Mutation_p.R27L	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	27	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)	p.R27L(2)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGCAGCATCCGCCCCACGGG	0.612																																						uc003lam.1																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)CGG>CTG		H2A histone family, member Y isoform 3							116.0	94.0	102.0					5																	134724704		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134724704C>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.80G>T	5.37:g.134724704C>A	ENSP00000423563:p.Arg27Leu					H2AFY_uc003lao.1_Missense_Mutation_p.R27L|H2AFY_uc003lan.1_Missense_Mutation_p.R27L|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.R27L|H2AFY_uc003las.1_Missense_Mutation_p.R27L|H2AFY_uc003lat.1_Missense_Mutation_p.R27L	p.R27L	NM_138610	NP_613258	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	290	-			27			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.80G>T	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007804	0.93287	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.11	4.25	0.50352	Histone-fold (2);Histone core (1);Histone H2A (2);	0.056333	0.64402	D	0.000002	D	0.94883	0.8346	H	0.97707	4.06	0.80722	D	1	P;D;D;D	0.89917	0.575;1.0;0.998;1.0	B;D;D;D	0.91635	0.3;0.998;0.994;0.999	D	0.96214	0.9155	10	0.87932	D	0	.	13.5515	0.61734	0.0:0.9252:0.0:0.0748	.	27;27;27;27	B4DJC3;O75367-3;O75367-2;O75367	.;.;.;H2AY_HUMAN	L	27	ENSP00000423563:R27L;ENSP00000302572:R27L;ENSP00000310169:R27L;ENSP00000415121:R27L;ENSP00000424971:R27L	ENSP00000302572:R27L	R	-	2	0	H2AFY	134752603	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.644000	0.83416	1.396000	0.46663	0.573000	0.79308	CGG		PASS	0.612	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		21	25	21	25	---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138716052	138716052	+	Missense_Mutation	SNP	G	G	T	rs187605953		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:138716052G>T	ENST00000348729.3	-	6	538	c.492C>A	c.(490-492)agC>agA	p.S164R	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Missense_Mutation_p.S168R	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	164					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)	p.S168R(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCTCCACCACGCTGGACACCA	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19106	0.0		0.0	False		,,,				2504	0.0					uc003leh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)AGC>AGA		solute carrier family 23 (nucleobase	Vitamin C(DB00126)						52.0	52.0	52.0					5																	138716052		2203	4300	6503	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138716052G>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.492C>A	5.37:g.138716052G>T	ENSP00000302701:p.Ser164Arg					SLC23A1_uc003leg.2_Missense_Mutation_p.S168R	p.S164R	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	589	-			164			Helical; (Potential).		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.492C>A	CCDS4212.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.65	2.301566	0.40694	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000453898	T;T	0.18502	2.21;2.21	4.87	0.917	0.19380	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	H	0.94385	3.53	0.40401	D	0.979641	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.99	T	0.33777	-0.9855	10	0.87932	D	0	-11.8711	4.5953	0.12327	0.3394:0.0:0.5192:0.1414	.	164;168	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	R	168;164;203	ENSP00000302851:S168R;ENSP00000302701:S164R	ENSP00000302701:S164R	S	-	3	2	SLC23A1	138743951	0.144000	0.22641	0.114000	0.21550	0.572000	0.35998	0.539000	0.23175	-0.020000	0.14032	0.561000	0.74099	AGC		PASS	0.577	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		3	7	3	7	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554588	140554588	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:140554588G>T	ENST00000231137.3	+	1	2346	c.2172G>T	c.(2170-2172)tcG>tcT	p.S724S	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	724					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S724S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGCTGCTCGGTGCCTGAGG	0.667																																						uc003lit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2170-2172)TCG>TCT		protocadherin beta 7 precursor							78.0	126.0	110.0					5																	140554588		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554588G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2172G>T	5.37:g.140554588G>T						PCDHB8_uc011dai.1_5'Flank	p.S724S	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2346	+			724			Cytoplasmic (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.2172G>T	CCDS4249.1																																																																																				PASS	0.667	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		39	55	39	55	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604159	140604159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:140604159C>A	ENST00000239449.4	+	1	1082	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.S208*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	361	Cadherin 4. {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.S361*(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)			GAGAATGCCTCAGAGACCCTA	0.408																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1081-1083)TCA>TAA		protocadherin beta 14 precursor							87.0	96.0	93.0					5																	140604159		2203	4300	6503	SO:0001587	stop_gained	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604159C>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.1082C>A	5.37:g.140604159C>A	ENSP00000239449:p.Ser361*					PCDHB14_uc011dal.1_Nonsense_Mutation_p.S208*	p.S361*	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1082	+			361			Cadherin 4.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	ENST00000239449.4	37	c.1082C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	21.2	4.112600	0.77210	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	.	.	.	4.67	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.1303	0.42674	0.0:0.8348:0.0:0.1652	.	.	.	.	X	208;361	.	ENSP00000239449:S361X	S	+	2	0	PCDHB14	140584343	0.000000	0.05858	0.749000	0.31150	0.934000	0.57294	0.928000	0.28831	1.101000	0.41535	0.655000	0.94253	TCA		PASS	0.408	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		16	35	16	35	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140730146	140730146	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:140730146G>T	ENST00000523390.1	+	1	319	c.319G>T	c.(319-321)Gct>Tct	p.A107S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A107S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACGGTCGCTGAAAACCC	0.418																																						uc003ljo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GCT>TCT		protocadherin gamma subfamily B, 1 isoform 1							66.0	64.0	65.0					5																	140730146		1864	4112	5976	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730146G>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.319G>T	5.37:g.140730146G>T	ENSP00000429273:p.Ala107Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A107S	p.A107S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	319	+			107			Cadherin 1.|Extracellular (Potential).		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.319G>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	3.835	-0.035034	0.07543	.	.	ENSG00000254221	ENST00000523390	T	0.27890	1.64	5.46	-1.6	0.08426	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.37320	0.0999	M	0.87617	2.895	0.09310	N	1	B;B	0.32800	0.334;0.385	B;B	0.39217	0.194;0.294	T	0.42799	-0.9430	9	0.59425	D	0.04	.	3.3124	0.07021	0.2995:0.1052:0.4867:0.1086	.	107;107	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	107	ENSP00000429273:A107S	ENSP00000429273:A107S	A	+	1	0	PCDHGB1	140710330	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.035000	0.13797	-0.950000	0.03659	-3.055000	0.00069	GCT		PASS	0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		14	23	14	23	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140811264	140811264	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:140811264G>T	ENST00000252085.3	+	1	1080	c.938G>T	c.(937-939)gGa>gTa	p.G313V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	313	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G313V(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGTCAGGATTCTACCAG	0.483																																						uc003lkt.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(937-939)GGA>GTA		protocadherin gamma subfamily A, 12 isoform 1							174.0	167.0	169.0					5																	140811264		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811264G>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.938G>T	5.37:g.140811264G>T	ENSP00000252085:p.Gly313Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.G313V	p.G313V	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1107	+			313			Cadherin 3.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.938G>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	7.323	0.617364	0.14129	.	.	ENSG00000253159	ENST00000252085	T	0.01745	4.66	4.75	1.53	0.23141	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02304	0.0071	L	0.55481	1.735	0.09310	N	1	B;B	0.15930	0.005;0.015	B;B	0.19148	0.008;0.024	T	0.42666	-0.9438	9	0.51188	T	0.08	.	4.6405	0.12546	0.275:0.3031:0.4219:0.0	.	313;313	O60330-2;O60330	.;PCDGC_HUMAN	V	313	ENSP00000252085:G313V	ENSP00000252085:G313V	G	+	2	0	PCDHGA12	140791448	0.000000	0.05858	0.012000	0.15200	0.981000	0.71138	-1.849000	0.01672	0.087000	0.17167	0.655000	0.94253	GGA		PASS	0.483	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		22	53	22	53	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148206670	148206670	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:148206670C>A	ENST00000305988.4	+	1	515	c.276C>A	c.(274-276)gcC>gcA	p.A92A		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	92					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.A92A(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TTGGGGCCGCCCATATTCTTA	0.542																																						uc003lpr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(274-276)GCC>GCA		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						88.0	84.0	85.0					5																	148206670		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206670C>A	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.276C>A	5.37:g.148206670C>A						SH3TC2_uc003lpp.1_Intron	p.A92A	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	515	+			92			Helical; Name=2.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.276C>A	CCDS4292.1																																																																																				PASS	0.542	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		13	22	13	22	---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150722495	150722495	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:150722495C>G	ENST00000335244.4	-	4	523	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	SLC36A2_ENST00000521967.1_Missense_Mutation_p.E132Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	132					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.E132Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GGGTTGGCTTCTAGTCCATGC	0.512																																						uc003lty.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(394-396)GAA>CAA		solute carrier family 36, member 2							178.0	142.0	154.0					5																	150722495		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150722495C>G	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.394G>C	5.37:g.150722495C>G	ENSP00000334223:p.Glu132Gln					GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.E132Q|SLC36A2_uc011dct.1_Missense_Mutation_p.E132Q	p.E132Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	524	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	132			Cytoplasmic (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.394G>C	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592135	0.46214	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10960	3.63;2.82	4.87	3.09	0.35607	.	0.161173	0.56097	D	0.000040	T	0.13030	0.0316	L	0.53671	1.685	0.80722	D	1	P;P;B	0.38745	0.645;0.454;0.255	B;B;B	0.43445	0.42;0.292;0.292	T	0.03060	-1.1077	10	0.41790	T	0.15	-7.7478	7.4046	0.26983	0.0:0.7007:0.1415:0.1578	.	132;132;132	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	Q	132	ENSP00000334223:E132Q;ENSP00000430535:E132Q	ENSP00000334223:E132Q	E	-	1	0	SLC36A2	150702688	0.687000	0.27671	0.774000	0.31636	0.876000	0.50452	2.192000	0.42649	1.417000	0.47077	0.655000	0.94253	GAA		PASS	0.512	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			3	53	3	53	---	---	---	---
NMUR2	56923	broad.mit.edu	37	5	151784185	151784185	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:151784185G>T	ENST00000255262.3	-	1	655	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	164					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.L164I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGATCCTGAGGGCCCGGCGC	0.632																																						uc003luv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(490-492)CTC>ATC		neuromedin U receptor 2							47.0	55.0	52.0					5																	151784185		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784185G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.490C>A	5.37:g.151784185G>T	ENSP00000255262:p.Leu164Ile						p.L164I	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	656	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	164			Cytoplasmic (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.490C>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	4.868	0.161368	0.09287	.	.	ENSG00000132911	ENST00000255262	T	0.37584	1.19	5.44	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.44746	0.1308	L	0.41415	1.275	0.40042	D	0.975661	D	0.56968	0.978	P	0.57620	0.824	T	0.28586	-1.0039	10	0.25751	T	0.34	-35.4981	15.5321	0.75970	0.0:0.1384:0.8616:0.0	.	164	Q9GZQ4	NMUR2_HUMAN	I	164	ENSP00000255262:L164I	ENSP00000255262:L164I	L	-	1	0	NMUR2	151764378	0.994000	0.37717	0.531000	0.27976	0.063000	0.16089	2.220000	0.42908	1.313000	0.45069	-0.196000	0.12772	CTC		PASS	0.632	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		9	22	9	22	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154394676	154394676	+	Missense_Mutation	SNP	G	G	T	rs369740095		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:154394676G>T	ENST00000435029.4	+	1	1417	c.1257G>T	c.(1255-1257)agG>agT	p.R419S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	419					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R419S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTTGGAGAGGATCATTTTGA	0.473																																						uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1255-1257)AGG>AGT		kinesin family member 4B							134.0	136.0	135.0					5																	154394676		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394676G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1257G>T	5.37:g.154394676G>T	ENSP00000387875:p.Arg419Ser						p.R419S	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1417	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	419			Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.1257G>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.632079	0.29068	.	.	ENSG00000226650	ENST00000435029	T	0.56444	0.46	1.61	-0.317	0.12736	.	.	.	.	.	T	0.44519	0.1297	M	0.65498	2.005	0.41608	D	0.988894	B	0.28439	0.212	B	0.28916	0.096	T	0.25433	-1.0132	9	0.41790	T	0.15	.	4.8545	0.13552	0.5864:0.0:0.4136:0.0	.	419	Q2VIQ3	KIF4B_HUMAN	S	419	ENSP00000387875:R419S	ENSP00000387875:R419S	R	+	3	2	KIF4B	154374869	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	0.479000	0.22228	-0.116000	0.11893	0.563000	0.77884	AGG		PASS	0.473	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			19	49	19	49	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154395465	154395465	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:154395465G>T	ENST00000435029.4	+	1	2206	c.2046G>T	c.(2044-2046)agG>agT	p.R682S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	682	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R682S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCGTAAGAGGCAATATGAGC	0.423																																						uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2044-2046)AGG>AGT		kinesin family member 4B							126.0	128.0	127.0					5																	154395465		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395465G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2046G>T	5.37:g.154395465G>T	ENSP00000387875:p.Arg682Ser						p.R682S	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2206	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	682			Interaction with PRC1 (By similarity).|Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.2046G>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	14.99	2.701636	0.48307	.	.	ENSG00000226650	ENST00000435029	T	0.18338	2.22	2.86	2.86	0.33363	.	.	.	.	.	T	0.26593	0.0650	M	0.66378	2.025	0.54753	D	0.999985	P	0.42483	0.781	P	0.47827	0.558	T	0.05550	-1.0878	9	0.54805	T	0.06	.	11.4546	0.50173	0.0:0.0:1.0:0.0	.	682	Q2VIQ3	KIF4B_HUMAN	S	682	ENSP00000387875:R682S	ENSP00000387875:R682S	R	+	3	2	KIF4B	154375658	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	1.539000	0.36104	1.330000	0.45394	0.563000	0.77884	AGG		PASS	0.423	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			17	40	17	40	---	---	---	---
FABP6	2172	broad.mit.edu	37	5	159661868	159661868	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:159661868C>T	ENST00000402432.3	+	3	413	c.285C>T	c.(283-285)ttC>ttT	p.F95F	FABP6_ENST00000393982.1_Silent_p.F144F|FABP6_ENST00000393980.4_Silent_p.F144F	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	95					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.F144F(1)|p.F95F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGAATTTCCCCAACTATC	0.512																																					Colon(29;562 677 12756 16385 20992)	uc003lya.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(283-285)TTC>TTT		gastrotropin isoform 2							134.0	111.0	118.0					5																	159661868		2203	4300	6503	SO:0001819	synonymous_variant	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159661868C>T	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.285C>T	5.37:g.159661868C>T						FABP6_uc003lxx.1_Silent_p.F144F|FABP6_uc003lxz.1_Silent_p.F144F	p.F95F	NM_001445	NP_001436	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	413	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	95					Q07DR7|Q8TBI3|Q9UGI7	Silent	SNP	ENST00000402432.3	37	c.285C>T	CCDS4349.1																																																																																				PASS	0.512	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		10	22	10	22	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168093550	168093550	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:168093550C>T	ENST00000519560.1	-	36	4900	c.4481G>A	c.(4480-4482)cGg>cAg	p.R1494Q	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1501Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1494	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R1494Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTATTTCCGCCGCTTGCTGCG	0.607																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4480-4482)CGG>CAG		slit homolog 3 precursor							50.0	44.0	46.0					5																	168093550		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093550C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4481G>A	5.37:g.168093550C>T	ENSP00000430333:p.Arg1494Gln					SLIT3_uc010jjg.2_Missense_Mutation_p.R1501Q	p.R1494Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4901	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1494			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4481G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118281	0.94385	.	.	ENSG00000184347	ENST00000519560;ENST00000332966	T;T	0.76968	-1.06;-1.05	5.42	5.42	0.78866	Cystine knot, C-terminal (3);	0.048967	0.85682	D	0.000000	D	0.85283	0.5661	M	0.79123	2.44	0.80722	D	1	D	0.71674	0.998	P	0.59012	0.85	D	0.86999	0.2115	10	0.87932	D	0	.	12.5643	0.56300	0.0:0.9246:0.0:0.0754	.	1494	O75094	SLIT3_HUMAN	Q	1494;1501	ENSP00000430333:R1494Q;ENSP00000332164:R1501Q	ENSP00000332164:R1501Q	R	-	2	0	SLIT3	168026128	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.944000	0.70219	2.542000	0.85734	0.655000	0.94253	CGG		PASS	0.607	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		11	7	11	7	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168671733	168671733	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:168671733T>A	ENST00000519560.1	-	3	736	c.317A>T	c.(316-318)cAg>cTg	p.Q106L	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Missense_Mutation_p.Q106L|SLIT3_ENST00000332966.8_Missense_Mutation_p.Q106L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	106					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.Q106L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCAGGTCCTGGAAGGCGCC	0.443																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(316-318)CAG>CTG		slit homolog 3 precursor							99.0	84.0	89.0					5																	168671733		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168671733T>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.317A>T	5.37:g.168671733T>A	ENSP00000430333:p.Gln106Leu					SLIT3_uc010jjg.2_Missense_Mutation_p.Q106L|SLIT3_uc010jji.2_Missense_Mutation_p.Q106L	p.Q106L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	737	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	106			LRR 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.317A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659617	0.47572	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.23754	1.89;1.89;1.89	5.05	5.05	0.67936	.	0.094376	0.42548	D	0.000682	T	0.32823	0.0842	N	0.22421	0.69	0.38483	D	0.947787	P;B	0.48294	0.908;0.409	P;B	0.61397	0.888;0.281	T	0.20338	-1.0278	10	0.56958	D	0.05	.	11.4768	0.50302	0.0:0.0:0.0:1.0	.	106;106	O75094-2;O75094	.;SLIT3_HUMAN	L	106	ENSP00000430333:Q106L;ENSP00000332164:Q106L;ENSP00000384890:Q106L	ENSP00000332164:Q106L	Q	-	2	0	SLIT3	168604311	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.127000	0.71642	2.041000	0.60428	0.533000	0.62120	CAG		PASS	0.443	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		12	26	12	26	---	---	---	---
SPDL1	54908	broad.mit.edu	37	5	169023621	169023621	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:169023621G>T	ENST00000265295.4	+	8	1227	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.Q316H(1)									TTGAGCAGCAGGAACGGTTGC	0.348																																						uc003mae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(946-948)CAG>CAT		coiled-coil domain containing 99							79.0	84.0	83.0					5																	169023621		2203	4300	6503	SO:0001583	missense	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169023621G>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.948G>T	5.37:g.169023621G>T	ENSP00000265295:p.Gln316His					CCDC99_uc010jjj.2_Missense_Mutation_p.Q245H|CCDC99_uc011deq.1_Missense_Mutation_p.Q133H|CCDC99_uc010jjk.2_Missense_Mutation_p.Q42H	p.Q316H	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1227	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	316			Potential.			Missense_Mutation	SNP	ENST00000265295.4	37	c.948G>T	CCDS4370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.417381|3.417381	0.62622|0.62622	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000505977|ENST00000265295;ENST00000274631	.|T	.|0.31510	.|1.49	5.69|5.69	-0.939|-0.939	0.10408|0.10408	.|.	.|0.132562	.|0.52532	.|D	.|0.000073	.|T	.|0.39517	.|0.1081	L|L	0.57536|0.57536	1.79|1.79	0.29664|0.29664	N|N	0.84297|0.84297	.|D;D;D	.|0.76494	.|0.998;0.999;0.986	.|D;D;P	.|0.65443	.|0.927;0.935;0.855	.|T	.|0.28839	.|-1.0031	.|10	.|0.46703	.|T	.|0.11	-15.1228|-15.1228	4.7692|4.7692	0.13148|0.13148	0.4186:0.0:0.3667:0.2147|0.4186:0.0:0.3667:0.2147	.|.	.|238;217;316	.|B4E393;Q96EA4-2;Q96EA4	.|.;.;SPDLY_HUMAN	X|H	237|316;217	.|ENSP00000265295:Q316H	.|ENSP00000265295:Q316H	G|Q	+|+	1|3	0|2	CCDC99|CCDC99	168956199|168956199	0.989000|0.989000	0.36119|0.36119	0.994000|0.994000	0.49952|0.49952	0.989000|0.989000	0.77384|0.77384	0.117000|0.117000	0.15583|0.15583	-0.191000|-0.191000	0.10448|0.10448	-0.355000|-0.355000	0.07637|0.07637	GGA|CAG		PASS	0.348	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		20	43	20	43	---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179192629	179192629	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr5:179192629G>C	ENST00000292599.3	+	2	881	c.618G>C	c.(616-618)gaG>gaC	p.E206D	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.E206D(1)|p.E243D(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCCCAGTGAGTCATTTCCTC	0.527																																						uc003mkm.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)	6						c.(616-618)GAG>GAC		mastermind-like 1							52.0	50.0	51.0					5																	179192629		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192629G>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.618G>C	5.37:g.179192629G>C	ENSP00000292599:p.Glu206Asp					MAML1_uc003mkn.1_Missense_Mutation_p.E206D	p.E206D	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	881	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	206						Missense_Mutation	SNP	ENST00000292599.3	37	c.618G>C	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.160358	0.01686	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.40476	1.03	4.9	0.61	0.17580	.	0.154834	0.42964	N	0.000622	T	0.14830	0.0358	N	0.03608	-0.345	0.27247	N	0.959	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.33650	-0.9860	10	0.02654	T	1	-11.0775	10.2174	0.43177	0.0:0.543:0.2582:0.1988	.	243;206	Q59GH4;Q92585	.;MAML1_HUMAN	D	206;243	ENSP00000292599:E206D	ENSP00000292599:E206D	E	+	3	2	MAML1	179125235	0.655000	0.27376	0.060000	0.19600	0.942000	0.58702	0.354000	0.20146	0.456000	0.26937	0.455000	0.32223	GAG		PASS	0.527	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		8	14	8	14	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7580280	7580280	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:7580280A>T	ENST00000379802.3	+	23	4198	c.3857A>T	c.(3856-3858)cAg>cTg	p.Q1286L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1286	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q1286L(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGATAATGCAGAAGAAGCAG	0.552																																						uc003mxp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(3856-3858)CAG>CTG		desmoplakin isoform I							84.0	86.0	85.0					6																	7580280		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580280A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3857A>T	6.37:g.7580280A>T	ENSP00000369129:p.Gln1286Leu					DSP_uc003mxq.1_Intron	p.Q1286L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4136	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1286			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3857A>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103341	0.56183	.	.	ENSG00000096696	ENST00000379802	D	0.91295	-2.82	5.17	5.17	0.71159	.	0.112392	0.39834	N	0.001259	D	0.90212	0.6940	L	0.40543	1.245	0.80722	D	1	D	0.54601	0.967	D	0.65140	0.932	D	0.90092	0.4178	10	0.38643	T	0.18	.	14.666	0.68907	1.0:0.0:0.0:0.0	.	1286	P15924	DESP_HUMAN	L	1286	ENSP00000369129:Q1286L	ENSP00000369129:Q1286L	Q	+	2	0	DSP	7525279	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.908000	0.56355	1.952000	0.56665	0.455000	0.32223	CAG		PASS	0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		13	40	13	40	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26200040	26200040	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:26200040A>G	ENST00000359985.1	+	1	293	c.254A>G	c.(253-255)aAc>aGc	p.N85S	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	85					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N85S(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCGCATTACAACAAGCGCTCC	0.627																																						uc003ngx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)AAC>AGC		histone cluster 1, H2bf							114.0	112.0	113.0					6																	26200040		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200040A>G	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.254A>G	6.37:g.26200040A>G	ENSP00000353074:p.Asn85Ser					HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.N85S	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	254	+		all_hematologic(11;0.196)	85					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.254A>G	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.340836	0.60963	.	.	ENSG00000197846	ENST00000359985	T	0.24908	1.83	3.89	3.89	0.44902	.	0.000000	0.64402	D	0.000020	T	0.20981	0.0505	.	.	.	0.28128	N	0.930328	.	.	.	.	.	.	T	0.02275	-1.1184	7	0.62326	D	0.03	.	12.5787	0.56378	1.0:0.0:0.0:0.0	.	.	.	.	S	85	ENSP00000353074:N85S	ENSP00000353074:N85S	N	+	2	0	HIST1H2BF	26308019	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.170000	0.64990	1.707000	0.51288	0.528000	0.53228	AAC		PASS	0.627	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		17	92	17	92	---	---	---	---
BTN2A1	11120	broad.mit.edu	37	6	26468327	26468327	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:26468327G>T	ENST00000312541.5	+	8	1382	c.1134G>T	c.(1132-1134)cgG>cgT	p.R378R	BTN2A1_ENST00000541522.1_Silent_p.R317R|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	378	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		R -> Q (in dbSNP:rs3734542).		lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R378R(1)|p.R364R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCCTAGGCCGGGAGAGCTTCG	0.567																																						uc003nib.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1132-1134)CGG>CGT		butyrophilin, subfamily 2, member A1 isoform 1							162.0	155.0	157.0					6																	26468327		2203	4300	6503	SO:0001819	synonymous_variant	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26468327G>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1134G>T	6.37:g.26468327G>T						BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Silent_p.R226R|BTN2A1_uc011dko.1_Silent_p.R317R|BTN2A1_uc010jqk.1_Silent_p.R138R	p.R378R	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			8	1346	+			378			Cytoplasmic (Potential).|B30.2/SPRY.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	ENST00000312541.5	37	c.1134G>T	CCDS4613.1																																																																																				PASS	0.567	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		20	52	20	52	---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227293	28227293	+	Silent	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:28227293T>C	ENST00000343684.3	+	1	196	c.144T>C	c.(142-144)cgT>cgC	p.R48R	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	48								p.R48R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCCGCGGCCGTGAGGGCCTCA	0.652																																						uc003nkt.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(142-144)CGT>CGC		NFKB activating protein-like							48.0	52.0	51.0					6																	28227293		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227293T>C	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.144T>C	6.37:g.28227293T>C						ZKSCAN4_uc011dlb.1_5'Flank	p.R48R	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	196	+			48					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.144T>C	CCDS34353.1																																																																																				PASS	0.652	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			14	44	14	44	---	---	---	---
OR12D2	26529	broad.mit.edu	37	6	29365234	29365234	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:29365234C>A	ENST00000383555.2	+	1	819	c.758C>A	c.(757-759)cCt>cAt	p.P253H	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P253H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCTATGCACCTGTTCTTTTC	0.453																																						uc003nmf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-759)CCT>CAT		olfactory receptor, family 12, subfamily D,							217.0	213.0	214.0					6																	29365234		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365234C>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.758C>A	6.37:g.29365234C>A	ENSP00000373047:p.Pro253His						p.P253H	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	819	+			253			Helical; Name=6; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.758C>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636336	0.29068	.	.	ENSG00000168787	ENST00000383555	T	0.00216	8.53	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.00328	0.0010	M	0.84219	2.685	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.32481	-0.9905	10	0.87932	D	0	.	15.7562	0.78030	0.0:1.0:0.0:0.0	.	253	P58182	O12D2_HUMAN	H	253	ENSP00000373047:P253H	ENSP00000373047:P253H	P	+	2	0	OR12D2	29473213	0.062000	0.20869	0.093000	0.20910	0.275000	0.26752	3.910000	0.56371	2.019000	0.59389	0.205000	0.17691	CCT		PASS	0.453	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			15	134	15	134	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30122178	30122178	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:30122178C>A	ENST00000449742.2	-	7	1089	c.1014G>T	c.(1012-1014)tgG>tgT	p.W338C	TRIM10_ENST00000376704.3_Missense_Mutation_p.W338C	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	338	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.W338C(1)		ovary(1)	1						GTGAGTTCTGCCATTTGTAGG	0.567																																						uc003npo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)TGG>TGT		tripartite motif-containing 10 isoform 1							60.0	70.0	66.0					6																	30122178		1509	2707	4216	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30122178C>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1014G>T	6.37:g.30122178C>A	ENSP00000397073:p.Trp338Cys					TRIM10_uc003npn.2_Missense_Mutation_p.W338C	p.W338C	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			7	1090	-			338			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1014G>T	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427936	0.62733	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.10573	2.86;2.86	6.01	6.01	0.97437	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.53938	D	0.000049	T	0.21468	0.0517	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.00155	-1.1979	10	0.38643	T	0.18	.	18.0197	0.89252	0.0:1.0:0.0:0.0	.	338;338	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	C	338	ENSP00000397073:W338C;ENSP00000365894:W338C	ENSP00000365894:W338C	W	-	3	0	TRIM10	30230157	0.153000	0.22777	1.000000	0.80357	0.957000	0.61999	0.587000	0.23909	2.845000	0.97973	0.643000	0.83706	TGG		PASS	0.567	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			7	33	7	33	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653372	30653372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:30653372C>A	ENST00000274853.3	-	1	2300	c.424G>T	c.(424-426)Gag>Tag	p.E142*	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Nonsense_Mutation_p.E142*|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	142						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E142*(1)									CTTAGTCTCTCTTCTCTTGAC	0.632																																						uc003nra.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(424-426)GAG>TAG		phostensin							120.0	134.0	129.0					6																	30653372		1184	2505	3689	SO:0001587	stop_gained	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653372C>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.424G>T	6.37:g.30653372C>A	ENSP00000274853:p.Glu142*					KIAA1949_uc003nrb.3_Nonsense_Mutation_p.E142*	p.E142*	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN			2	655	-			142					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Nonsense_Mutation	SNP	ENST00000274853.3	37	c.424G>T	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	37	6.152678	0.97329	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	.	.	.	4.98	4.08	0.47627	.	0.616869	0.15023	N	0.284888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.7836	7.8974	0.29715	0.1507:0.5682:0.2811:0.0	.	.	.	.	X	142	.	ENSP00000274853:E142X	E	-	1	0	KIAA1949	30761351	0.002000	0.14202	0.984000	0.44739	0.984000	0.73092	0.690000	0.25451	2.581000	0.87130	0.655000	0.94253	GAG		PASS	0.632	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		20	123	20	123	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30865331	30865331	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:30865331G>C	ENST00000324771.8	+	17	2721	c.2173G>C	c.(2173-2175)Ggg>Cgg	p.G725R	DDR1_ENST00000454612.2_Missense_Mutation_p.G688R|DDR1_ENST00000513240.1_Missense_Mutation_p.G731R|DDR1_ENST00000452441.1_Missense_Mutation_p.G725R|DDR1_ENST00000376575.3_Missense_Mutation_p.G731R|DDR1_ENST00000418800.2_Missense_Mutation_p.G688R|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.G725R|DDR1_ENST00000376567.2_Missense_Mutation_p.G688R|DDR1_ENST00000376570.4_Missense_Mutation_p.G688R|DDR1_ENST00000361741.4_Missense_Mutation_p.G392R|DDR1_ENST00000508312.1_Missense_Mutation_p.G706R|DDR1_ENST00000376569.3_Missense_Mutation_p.G688R			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	725	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G725R(1)|p.G731R(1)|p.G687R(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCAGCCGAGGGGGCCCCTGG	0.642																																						uc003nrr.2																			3	Substitution - Missense(3)		lung(3)	lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(2173-2175)GGG>CGG		discoidin domain receptor family, member 1	Imatinib(DB00619)						38.0	39.0	39.0					6																	30865331		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30865331G>C	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2173G>C	6.37:g.30865331G>C	ENSP00000318217:p.Gly725Arg					DDR1_uc010jse.2_Missense_Mutation_p.G688R|DDR1_uc003nrq.2_Missense_Mutation_p.G688R|DDR1_uc003nrs.2_Missense_Mutation_p.G725R|DDR1_uc003nrt.2_Missense_Mutation_p.G688R|DDR1_uc011dms.1_Missense_Mutation_p.G706R|DDR1_uc003nru.2_Missense_Mutation_p.G688R|DDR1_uc003nrv.2_Missense_Mutation_p.G731R|DDR1_uc003nrw.1_Missense_Mutation_p.G460R|DDR1_uc003nrz.1_Missense_Mutation_p.G50R	p.G725R	NM_013993	NP_054699	Q08345	DDR1_HUMAN			16	2432	+			725			Cytoplasmic (Potential).|Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.2173G>C	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.818|7.818	0.717073|0.717073	0.15372|0.15372	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741|ENST00000484556	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.17746|0.17746	0.0426|0.0426	N|N	0.17631|0.17631	0.505|0.505	0.09310|0.09310	N|N	1|1	B;B;B;D;B|.	0.56968|.	0.206;0.007;0.206;0.978;0.206|.	B;B;B;P;B|.	0.60609|.	0.088;0.007;0.088;0.877;0.088|.	T|T	0.13202|0.13202	-1.0518|-1.0518	10|5	0.21540|.	T|.	0.41|.	.|.	12.892|12.892	0.58076|0.58076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	706;189;457;731;725|.	B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345|.	.;.;.;.;DDR1_HUMAN|.	R|S	725;688;688;688;731;688;725;725;706;688;731;457;392|81	ENSP00000318217:G725R;ENSP00000407699:G688R;ENSP00000406091:G688R;ENSP00000365753:G688R;ENSP00000365759:G731R;ENSP00000365754:G688R;ENSP00000365752:G725R;ENSP00000405039:G725R;ENSP00000422442:G706R;ENSP00000365751:G688R;ENSP00000427552:G731R;ENSP00000398682:G457R;ENSP00000354844:G392R|.	ENSP00000318217:G725R|.	G|R	+|+	1|3	0|2	DDR1|DDR1	30973310|30973310	0.950000|0.950000	0.32346|0.32346	0.502000|0.502000	0.27614|0.27614	0.185000|0.185000	0.23345|0.23345	2.118000|2.118000	0.41949|0.41949	2.420000|2.420000	0.82092|0.82092	0.462000|0.462000	0.41574|0.41574	GGG|AGG		PASS	0.642	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		9	19	9	19	---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30888132	30888132	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:30888132G>T	ENST00000321897.5	+	13	1948	c.1316G>T	c.(1315-1317)cGg>cTg	p.R439L	VARS2_ENST00000416670.2_Missense_Mutation_p.R439L|VARS2_ENST00000542001.1_Missense_Mutation_p.R299L|VARS2_ENST00000541562.1_Missense_Mutation_p.R469L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	439					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R439L(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTTGTGGCCCGGGAAAAGATA	0.517																																						uc003nsc.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1315-1317)CGG>CTG		valyl-tRNA synthetase 2, mitochondrial							40.0	44.0	43.0					6																	30888132		2203	4300	6503	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30888132G>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1316G>T	6.37:g.30888132G>T	ENSP00000316092:p.Arg439Leu					VARS2_uc011dmx.1_Missense_Mutation_p.R439L|VARS2_uc011dmy.1_Missense_Mutation_p.R299L|VARS2_uc011dmz.1_Missense_Mutation_p.R469L|VARS2_uc011dna.1_Missense_Mutation_p.R437L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank	p.R439L	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			13	1948	+			439					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1316G>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133053	0.77662	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.27	4.27	0.50696	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	H	0.98487	4.245	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	0.86351	0.1711	10	0.87932	D	0	-28.8451	14.5712	0.68213	0.0:0.0:1.0:0.0	.	437;469;439	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	L	439;439;299;469	ENSP00000316092:R439L;ENSP00000394802:R439L;ENSP00000438200:R299L;ENSP00000441000:R469L	ENSP00000316092:R439L	R	+	2	0	VARS2	30996111	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.594000	0.90836	2.104000	0.64026	0.462000	0.41574	CGG		PASS	0.517	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		11	23	11	23	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31110428	31110428	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:31110428C>A	ENST00000376266.5	-	18	2412	c.2290G>T	c.(2290-2292)Gtt>Ttt	p.V764F	CCHCR1_ENST00000396263.2_Missense_Mutation_p.V711F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.V817F|CCHCR1_ENST00000396268.3_Missense_Mutation_p.V853F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	764					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V853F(1)|p.V764F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCTTGACAAACAGCTTCCTCT	0.557																																						uc003nsr.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2290-2292)GTT>TTT		coiled-coil alpha-helical rod protein 1 isoform							106.0	90.0	95.0					6																	31110428		2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110428C>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2290G>T	6.37:g.31110428C>A	ENSP00000365442:p.Val764Phe					CCHCR1_uc011dne.1_Missense_Mutation_p.V750F|CCHCR1_uc003nsq.3_Missense_Mutation_p.V817F|CCHCR1_uc003nsp.3_Missense_Mutation_p.V853F	p.V764F	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			18	2413	-			764					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2290G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557769	0.45590	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	4.67	-5.42	0.02640	.	0.671525	0.12997	N	0.421944	T	0.01156	0.0038	N	0.22421	0.69	0.09310	N	1	B;B;P;P	0.46784	0.153;0.317;0.884;0.773	B;B;B;B	0.41619	0.121;0.17;0.361;0.246	T	0.42916	-0.9423	10	0.66056	D	0.02	1.098	9.135	0.36868	0.0:0.5742:0.1645:0.2613	.	750;764;817;853	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	F	853;764;711;750;817	ENSP00000379566:V853F;ENSP00000365442:V764F;ENSP00000379561:V711F;ENSP00000401039:V817F	ENSP00000365442:V764F	V	-	1	0	CCHCR1	31218407	0.000000	0.05858	0.000000	0.03702	0.487000	0.33371	-1.372000	0.02570	-0.780000	0.04553	-0.490000	0.04691	GTT		PASS	0.557	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		5	43	5	43	---	---	---	---
LTB	4050	broad.mit.edu	37	6	31548597	31548597	+	Silent	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:31548597G>C	ENST00000429299.2	-	4	631	c.624C>G	c.(622-624)ggC>ggG	p.G208G	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	208					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.G208G(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						GCACCAGGCCGCCGAACCCCA	0.657																																						uc003nuk.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(622-624)GGC>GGG		lymphotoxin-beta isoform a	Infliximab(DB00065)|Simvastatin(DB00641)						48.0	31.0	37.0					6																	31548597		1510	2709	4219	SO:0001819	synonymous_variant	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548597G>C	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.624C>G	6.37:g.31548597G>C						LTB_uc003nul.2_3'UTR	p.G208G	NM_002341	NP_002332	Q06643	TNFC_HUMAN			4	632	-			208			Extracellular (Potential).		P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	37	c.624C>G	CCDS4703.1																																																																																				PASS	0.657	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			5	10	5	10	---	---	---	---
EGFL8	80864	broad.mit.edu	37	6	32134487	32134487	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:32134487C>T	ENST00000395512.1	+	4	339	c.234C>T	c.(232-234)taC>taT	p.Y78Y	EGFL8_ENST00000333845.6_Silent_p.Y78Y|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	78	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Y78Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GGACCATGTACCGCGTTATGT	0.637																																						uc003oab.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)TAC>TAT		NG3 protein precursor							49.0	57.0	54.0					6																	32134487		2203	4300	6503	SO:0001819	synonymous_variant	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134487C>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.234C>T	6.37:g.32134487C>T						PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Silent_p.Y78Y	p.Y78Y	NM_030652	NP_085155	Q99944	EGFL8_HUMAN			4	292	+			78			EMI.		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	c.234C>T	CCDS4743.1																																																																																				PASS	0.637	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		12	28	12	28	---	---	---	---
RPS10	6204	broad.mit.edu	37	6	34386164	34386164	+	Silent	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:34386164T>A	ENST00000326199.8	-	5	531	c.438A>T	c.(436-438)tcA>tcT	p.S146S	RPS10-NUDT3_ENST00000605528.1_Silent_p.S146S|RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Silent_p.S146S	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	146					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)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.S146S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						ATTCGGTTGCTGACCCAGCCC	0.458																																					Colon(121;749 1624 4895 8687 22360)	uc003ojm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(436-438)TCA>TCT		ribosomal protein S10							85.0	81.0	82.0					6																	34386164		2203	4300	6503	SO:0001819	synonymous_variant	6204				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr6:34386164T>A	U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.438A>T	6.37:g.34386164T>A						RPS10_uc003ojn.2_Silent_p.S146S	p.S146S	NM_001014	NP_001005	P46783	RS10_HUMAN			5	658	-			146					B2R4E3|Q5TZC0	Silent	SNP	ENST00000326199.8	37	c.438A>T	CCDS4792.1																																																																																				PASS	0.458	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			5	27	5	27	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826575	34826575	+	Silent	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:34826575A>G	ENST00000192788.5	+	14	2613	c.2442A>G	c.(2440-2442)gcA>gcG	p.A814A	UHRF1BP1_ENST00000452449.2_Silent_p.A814A	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	814							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.A814A(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						AGGATGTAGCAGATGTTCATA	0.507																																						uc003oju.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2440-2442)GCA>GCG		ICBP90 binding protein 1							152.0	147.0	148.0					6																	34826575		1980	4173	6153	SO:0001819	synonymous_variant	54887							g.chr6:34826575A>G	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.2442A>G	6.37:g.34826575A>G						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.A814A	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2676	+			814					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.2442A>G	CCDS43455.1																																																																																				PASS	0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		22	135	22	135	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35987385	35987385	+	Missense_Mutation	SNP	T	T	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:35987385T>G	ENST00000490799.1	-	2	453	c.100A>C	c.(100-102)Acc>Ccc	p.T34P	SLC26A8_ENST00000394602.2_Missense_Mutation_p.T34P|SLC26A8_ENST00000355574.2_Missense_Mutation_p.T34P	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.T34P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTTGAAAGGTCTCCTCATTG	0.498																																						uc003olm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(100-102)ACC>CCC		solute carrier family 26, member 8 isoform a							268.0	197.0	221.0					6																	35987385		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35987385T>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.100A>C	6.37:g.35987385T>G	ENSP00000417638:p.Thr34Pro					SLC26A8_uc003oln.2_Missense_Mutation_p.T34P|SLC26A8_uc003oll.2_Missense_Mutation_p.T34P	p.T34P	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			2	211	-			34			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.100A>C	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781077	0.49891	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.79	3.54	0.40534	.	0.491488	0.17270	N	0.180405	T	0.10723	0.0262	N	0.24115	0.695	0.24696	N	0.993281	P;D	0.54207	0.641;0.965	B;P	0.51229	0.143;0.663	T	0.07770	-1.0755	10	0.30854	T	0.27	.	7.2744	0.26275	0.1963:0.0:0.0:0.8037	.	34;34	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	P	34;34;34;120	ENSP00000417638:T34P;ENSP00000378100:T34P;ENSP00000347778:T34P;ENSP00000420488:T120P	ENSP00000347778:T34P	T	-	1	0	SLC26A8	36095363	0.904000	0.30761	0.970000	0.41538	0.917000	0.54804	1.945000	0.40273	2.136000	0.66102	0.528000	0.53228	ACC		PASS	0.498	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			9	20	9	20	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39880094	39880094	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:39880094C>A	ENST00000340692.5	-	8	898	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	MOCS1_ENST00000425303.2_Missense_Mutation_p.G299C|MOCS1_ENST00000373188.2_Missense_Mutation_p.G299C|MOCS1_ENST00000373195.3_Missense_Mutation_p.G212C|MOCS1_ENST00000308559.7_Missense_Mutation_p.G299C|MOCS1_ENST00000373186.4_Missense_Mutation_p.G299C|MOCS1_ENST00000373175.4_Missense_Mutation_p.G270C|MOCS1_ENST00000432280.2_Missense_Mutation_p.G270C			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	299	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.G299C(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGATCTGGCCTTGGAAGCCA	0.557																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(895-897)GGC>TGC		molybdenum cofactor synthesis-step 1 protein							116.0	111.0	113.0					6																	39880094		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39880094C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.895G>T	6.37:g.39880094C>A	ENSP00000344794:p.Gly299Cys					MOCS1_uc003opa.2_Missense_Mutation_p.G299C|MOCS1_uc003opc.2_Missense_Mutation_p.G299C|MOCS1_uc003opd.2_Missense_Mutation_p.G299C|MOCS1_uc003ope.2_Missense_Mutation_p.G212C	p.G299C	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN			7	1033	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		299			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.895G>T		.	.	.	.	.	.	.	.	.	.	C	26.9	4.781318	0.90282	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000341481;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.16	5.16	0.70880	Molybdenum cofactor synthesis C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	H	0.99965	5.09	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99888	1.1127	9	.	.	.	-25.404	18.2291	0.89928	0.0:1.0:0.0:0.0	.	299;299;299;299;299	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	C	299;299;270;299;212;51;299;299;270	ENSP00000362282:G299C;ENSP00000309843:G299C;ENSP00000362270:G270C;ENSP00000362284:G299C;ENSP00000362291:G212C;ENSP00000344794:G299C;ENSP00000416478:G299C;ENSP00000410809:G270C	.	G	-	1	0	MOCS1	39988072	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.407000	0.81776	0.491000	0.48974	GGC		PASS	0.557	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		17	56	17	56	---	---	---	---
TREM1	54210	broad.mit.edu	37	6	41250461	41250461	+	Silent	SNP	C	C	T	rs571559998	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:41250461C>T	ENST00000244709.4	-	2	141	c.78G>A	c.(76-78)gaG>gaA	p.E26E	TREM1_ENST00000591620.1_Silent_p.E26E|TREM1_ENST00000589614.1_Silent_p.E26E|TREM1_ENST00000334475.6_Silent_p.E26E	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	26	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.E26E(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CATACTTTTCCTCAGTTAATT	0.448																																						uc003oqf.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(76-78)GAG>GAA		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						96.0	102.0	100.0					6																	41250461		2203	4300	6503	SO:0001819	synonymous_variant	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41250461C>T	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.78G>A	6.37:g.41250461C>T						TREM1_uc003oqg.1_Silent_p.E26E	p.E26E	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			2	142	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		26			Extracellular (Potential).|Ig-like V-type.		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Silent	SNP	ENST00000244709.4	37	c.78G>A	CCDS4854.1																																																																																				PASS	0.448	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		34	90	34	90	---	---	---	---
PGC	5225	broad.mit.edu	37	6	41704721	41704721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:41704721C>A	ENST00000373025.3	-	9	1098	c.1036G>T	c.(1036-1038)Gga>Tga	p.G346*	TFEB_ENST00000403298.4_5'Flank|TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000230323.4_5'Flank|TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000420312.1_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	346					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.G346*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGCTCGACTCCCACGGTGCAG	0.582																																						uc003ora.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1036-1038)GGA>TGA		progastricsin (pepsinogen C) precursor							66.0	62.0	64.0					6																	41704721		2203	4300	6503	SO:0001587	stop_gained	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704721C>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1036G>T	6.37:g.41704721C>A	ENSP00000362116:p.Gly346*					TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	p.G346*	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1085	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		346					B4DVZ3|Q5T3D7|Q5T3D8	Nonsense_Mutation	SNP	ENST00000373025.3	37	c.1036G>T	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734114	0.89482	.	.	ENSG00000096088	ENST00000373025	.	.	.	4.66	3.79	0.43588	.	0.317843	0.30252	N	0.010057	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6601	0.56809	0.0:0.9188:0.0:0.0812	.	.	.	.	X	346	.	ENSP00000362116:G346X	G	-	1	0	PGC	41812699	0.339000	0.24784	0.109000	0.21407	0.003000	0.03518	2.504000	0.45416	1.171000	0.42768	0.561000	0.74099	GGA		PASS	0.582	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			7	19	7	19	---	---	---	---
CLIC5	53405	broad.mit.edu	37	6	45917079	45917079	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:45917079G>A	ENST00000185206.6	-	3	842	c.690C>T	c.(688-690)caC>caT	p.H230H	CLIC5_ENST00000339561.6_Silent_p.H71H|CLIC5_ENST00000544153.1_Silent_p.H71H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	230					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)	p.H71H(1)|p.H230H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGAAGGGCGGGTGCGTGCCGG	0.542																																						uc003oxv.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(688-690)CAC>CAT		chloride intracellular channel 5 isoform a							143.0	135.0	137.0					6																	45917079		2203	4300	6503	SO:0001819	synonymous_variant	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45917079G>A	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.690C>T	6.37:g.45917079G>A						CLIC5_uc003oxu.3_Silent_p.H71H|CLIC5_uc003oxx.2_Silent_p.H71H	p.H230H	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			3	796	-			230					B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	ENST00000185206.6	37	c.690C>T	CCDS47438.1																																																																																				PASS	0.542	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			22	71	22	71	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46801051	46801051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:46801051C>A	ENST00000230588.4	+	11	1394	c.1385C>A	c.(1384-1386)tCg>tAg	p.S462*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	462	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S462*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTCTACAATTCGGAGGGATAT	0.502																																						uc010jzh.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1384-1386)TCG>TAG		meprin A alpha precursor							70.0	73.0	72.0					6																	46801051		2203	4300	6503	SO:0001587	stop_gained	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46801051C>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1385C>A	6.37:g.46801051C>A	ENSP00000230588:p.Ser462*					MEP1A_uc011dwg.1_Nonsense_Mutation_p.S184*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.S490*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.S362*	p.S462*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1427	+			462			MATH.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Nonsense_Mutation	SNP	ENST00000230588.4	37	c.1385C>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552533	0.65425	.	.	ENSG00000112818	ENST00000230588	.	.	.	5.72	4.84	0.62591	.	0.252039	0.42172	D	0.000747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-12.3823	10.6136	0.45436	0.131:0.7997:0.0:0.0694	.	.	.	.	X	462	.	ENSP00000230588:S462X	S	+	2	0	MEP1A	46909010	0.542000	0.26426	0.992000	0.48379	0.058000	0.15608	3.955000	0.56715	2.706000	0.92434	0.650000	0.86243	TCG		PASS	0.502	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		24	38	24	38	---	---	---	---
DEFB112	245915	broad.mit.edu	37	6	50011361	50011361	+	Missense_Mutation	SNP	G	G	C	rs144227676	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:50011361G>C	ENST00000322246.4	-	2	268	c.269C>G	c.(268-270)aCg>aGg	p.T90R		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	90					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T90R(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					ATTTGGGTCCGTAGGGTCACA	0.413																																						uc011dws.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(268-270)ACG>AGG		beta-defensin 112 precursor							172.0	141.0	152.0					6																	50011361		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011361G>C	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.269C>G	6.37:g.50011361G>C	ENSP00000319126:p.Thr90Arg						p.T90R	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			2	269	-	Lung NSC(77;0.042)		90					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.269C>G	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	G	4.747	0.138848	0.09083	.	.	ENSG00000180872	ENST00000322246	.	.	.	3.06	-6.12	0.02124	.	8.739140	0.00166	N	0.000011	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15150	-1.0447	9	0.59425	D	0.04	8.3881	0.6338	0.00799	0.2355:0.264:0.2772:0.2232	.	90	Q30KQ8	DB112_HUMAN	R	90	.	ENSP00000319126:T90R	T	-	2	0	DEFB112	50119320	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.928000	0.00690	-5.118000	0.00021	-2.535000	0.00181	ACG		PASS	0.413	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		15	46	15	46	---	---	---	---
MLIP	90523	broad.mit.edu	37	6	54025560	54025560	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:54025560G>C	ENST00000274897.5	+	7	970	c.857G>C	c.(856-858)aGg>aCg	p.R286T	MLIP_ENST00000502396.1_Missense_Mutation_p.R821T|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.R810T|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Missense_Mutation_p.R182T|MLIP_ENST00000370876.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	286						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.R286T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTCCTTCAAGGTCCCCAAAG	0.338																																						uc003pcg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)AGG>ACG		hypothetical protein LOC90523							44.0	45.0	45.0					6																	54025560		2202	4300	6502	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54025560G>C	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.857G>C	6.37:g.54025560G>C	ENSP00000274897:p.Arg286Thr					C6orf142_uc003pcf.2_Missense_Mutation_p.R810T|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.R821T	p.R286T	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			7	970	+	Lung NSC(77;0.0317)		286					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.857G>C	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267594	0.40095	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000502396	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.65	3.87	0.44632	.	0.381643	0.27792	N	0.017836	T	0.04998	0.0134	N	0.14661	0.345	0.80722	D	1	B;B;B	0.21606	0.058;0.022;0.058	B;B;B	0.25291	0.059;0.014;0.059	T	0.27739	-1.0065	10	0.02654	T	1	-0.302	8.4571	0.32906	0.1791:0.0:0.8209:0.0	.	821;286;810	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	T	286;810;182;821	ENSP00000274897:R286T;ENSP00000425142:R810T;ENSP00000359914:R182T;ENSP00000426290:R821T	ENSP00000274897:R286T	R	+	2	0	MLIP	54133519	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	2.133000	0.42093	0.738000	0.32606	0.563000	0.77884	AGG		PASS	0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		4	29	4	29	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62442636	62442636	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:62442636C>A	ENST00000281156.4	-	7	1122	c.844G>T	c.(844-846)Gac>Tac	p.D282Y		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.D282Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGGTCTGGTCATCATATTCA	0.383																																						uc003peg.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(844-846)GAC>TAC		KH domain-containing, RNA-binding, signal							180.0	170.0	173.0					6																	62442636		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62442636C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.844G>T	6.37:g.62442636C>A	ENSP00000281156:p.Asp282Tyr						p.D282Y	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	7	1091	-			282					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.844G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641729	0.67244	.	.	ENSG00000112232	ENST00000281156	T	0.47528	0.84	5.72	5.72	0.89469	.	0.398889	0.29053	N	0.013281	T	0.50274	0.1606	L	0.42245	1.32	0.45554	D	0.998505	D	0.54397	0.966	P	0.59288	0.855	T	0.49551	-0.8928	10	0.59425	D	0.04	0.2608	16.8588	0.86012	0.0:1.0:0.0:0.0	.	282	Q5VWX1	KHDR2_HUMAN	Y	282	ENSP00000281156:D282Y	ENSP00000281156:D282Y	D	-	1	0	KHDRBS2	62500595	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	4.607000	0.61133	2.718000	0.92993	0.644000	0.83932	GAC		PASS	0.383	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		10	66	10	66	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70859619	70859619	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:70859619G>A	ENST00000322773.4	+	28	2019	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E	COL19A1_ENST00000393344.1_Silent_p.E261E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	639	Collagen-like 6.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.E639E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGCTGGAGAGCCAGGTATTC	0.388																																						uc003pfc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(1915-1917)GAG>GAA		alpha 1 type XIX collagen precursor							88.0	94.0	92.0					6																	70859619		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70859619G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1917G>A	6.37:g.70859619G>A						COL19A1_uc010kam.1_Silent_p.E535E	p.E639E	NM_001858	NP_001849	Q14993	COJA1_HUMAN			28	2034	+			639			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.1917G>A	CCDS4970.1																																																																																				PASS	0.388	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			9	44	9	44	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74492421	74492421	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:74492421G>T	ENST00000287097.5	+	18	2160	c.2048G>T	c.(2047-2049)aGt>aTt	p.S683I	CD109_ENST00000422508.2_Missense_Mutation_p.S606I|CD109_ENST00000437994.2_Missense_Mutation_p.S683I			Q6YHK3	CD109_HUMAN	CD109 molecule	683	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.S683I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGGGTAGCAGTCCACATGTC	0.353																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(2047-2049)AGT>ATT		CD109 antigen isoform 1 precursor							171.0	160.0	163.0					6																	74492421		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74492421G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2048G>T	6.37:g.74492421G>T	ENSP00000287097:p.Ser683Ile					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.S683I|CD109_uc010kba.2_Missense_Mutation_p.S606I	p.S683I	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			18	2473	+			683			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.2048G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376123	0.24857	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23950	1.88;2.09;1.88	4.58	-7.33	0.01431	.	1.751650	0.03597	N	0.232794	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	P;B;B	0.43519	0.809;0.017;0.009	P;B;B	0.45232	0.474;0.016;0.007	T	0.13872	-1.0493	10	0.34782	T	0.22	.	5.505	0.16848	0.2489:0.1894:0.4683:0.0933	.	606;683;683	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	683;606;683	ENSP00000388062:S683I;ENSP00000404475:S606I;ENSP00000287097:S683I	ENSP00000287097:S683I	S	+	2	0	CD109	74549142	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-0.395000	0.07287	-1.375000	0.02129	-1.284000	0.01376	AGT		PASS	0.353	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		16	64	16	64	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75892940	75892940	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:75892940C>G	ENST00000322507.8	-	10	2026	c.1717G>C	c.(1717-1719)Gca>Cca	p.A573P	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.A573P|COL12A1_ENST00000416123.2_Missense_Mutation_p.A573P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	573	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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.A573P(1)		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						ACACCAACTGCAAAGATTTCA	0.438																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1717-1719)GCA>CCA		collagen, type XII, alpha 1 long isoform							134.0	127.0	129.0					6																	75892940		1931	4142	6073	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.chr6:75892940C>G	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.1717G>C	6.37:g.75892940C>G	ENSP00000325146:p.Ala573Pro					COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.A231P	p.A573P	NM_004370	NP_004361	Q99715	COCA1_HUMAN			10	1883	-			573			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1717G>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724146	0.89298	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.85629	-2.01;-2.01;-2.01	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.90696	0.7081	M	0.63208	1.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90161	0.4228	10	0.59425	D	0.04	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	573;573	D6RGG3;Q99715	.;COCA1_HUMAN	P	573	ENSP00000325146:A573P;ENSP00000412864:A573P;ENSP00000421216:A573P	ENSP00000325146:A573P	A	-	1	0	COL12A1	75949660	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	7.776000	0.85560	2.777000	0.95525	0.655000	0.94253	GCA		PASS	0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		19	66	19	66	---	---	---	---
PRSS35	167681	broad.mit.edu	37	6	84234168	84234168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:84234168C>A	ENST00000369700.3	+	2	1185	c.1008C>A	c.(1006-1008)taC>taA	p.Y336*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.Y336*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	336	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.Y336*(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATCTCCTTTACCAATACTGCG	0.483																																						uc003pjz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1006-1008)TAC>TAA		protease, serine, 35 precursor							117.0	118.0	118.0					6																	84234168		2203	4300	6503	SO:0001587	stop_gained	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234168C>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1008C>A	6.37:g.84234168C>A	ENSP00000358714:p.Tyr336*					PRSS35_uc010kbm.2_Nonsense_Mutation_p.Y336*	p.Y336*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	1171	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	336			Peptidase S1.		A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	c.1008C>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493361	0.96339	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.91	-1.03	0.10102	.	0.127073	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1982	12.1063	0.53813	0.0:0.4972:0.0:0.5028	.	.	.	.	X	336	.	ENSP00000358714:Y336X	Y	+	3	2	PRSS35	84290887	0.937000	0.31787	0.997000	0.53966	0.980000	0.70556	0.050000	0.14120	-0.116000	0.11893	0.462000	0.41574	TAC		PASS	0.483	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		10	49	10	49	---	---	---	---
CYB5R4	51167	broad.mit.edu	37	6	84627783	84627783	+	Splice_Site	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:84627783A>T	ENST00000369681.5	+	6	645	c.505A>T	c.(505-507)Agc>Tgc	p.S169C		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	169	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.S169C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TAGTTATCCAAGGTATGCATT	0.303																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(505-507)AGC>TGC		cytochrome b5 reductase 4							69.0	69.0	69.0					6																	84627783		2203	4299	6502	SO:0001630	splice_region_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84627783A>T	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.506+1A>T	6.37:g.84627783A>T							p.S169C	NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	6	637	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	169			CS.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.505A>T	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153639	0.38021	.	.	ENSG00000065615	ENST00000369681	T	0.15017	2.46	5.4	5.4	0.78164	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.232226	0.51477	D	0.000087	T	0.10594	0.0259	M	0.63428	1.95	0.80722	D	1	B	0.21753	0.06	B	0.27608	0.081	T	0.03933	-1.0991	10	0.35671	T	0.21	.	11.8226	0.52247	1.0:0.0:0.0:0.0	.	169	Q7L1T6	NB5R4_HUMAN	C	169	ENSP00000358695:S169C	ENSP00000358695:S169C	S	+	1	0	CYB5R4	84684502	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	4.477000	0.60223	2.047000	0.60756	0.482000	0.46254	AGC		PASS	0.303	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	Missense_Mutation	7	46	7	46	---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84772676	84772676	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:84772676G>T	ENST00000257776.4	+	3	327	c.192G>T	c.(190-192)ctG>ctT	p.L64L		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	64					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.L64L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTTTGTGCTGACCTTGCTGA	0.413																																						uc003pkg.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(190-192)CTG>CTT		melanocortin 2 receptor accessory protein 2							228.0	204.0	212.0					6																	84772676		2203	4300	6503	SO:0001819	synonymous_variant	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84772676G>T	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.192G>T	6.37:g.84772676G>T						MRAP2_uc010kbo.2_Intron	p.L64L	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			3	382	+			64					A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	ENST00000257776.4	37	c.192G>T	CCDS5001.1																																																																																				PASS	0.413	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		13	51	13	51	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446454	85446454	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:85446454G>T	ENST00000369663.5	-	8	2110	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	591					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T591T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGCTTCCTAGGGTCCTAGAGT	0.468																																						uc003pkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1771-1773)ACC>ACA		T-box 18							60.0	60.0	60.0					6																	85446454		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446454G>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1773C>A	6.37:g.85446454G>T						TBX18_uc010kbq.1_Intron	p.T591T	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1773	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	591					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1773C>A	CCDS34495.1																																																																																				PASS	0.468	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		5	44	5	44	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85457707	85457707	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:85457707C>A	ENST00000369663.5	-	5	1207	c.870G>T	c.(868-870)ggG>ggT	p.G290G	TBX18_ENST00000606784.1_Silent_p.G132G|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	290					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G290G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTACTCCCTCCCCGGATGGAA	0.453																																						uc003pkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(868-870)GGG>GGT		T-box 18							109.0	93.0	99.0					6																	85457707		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85457707C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.870G>T	6.37:g.85457707C>A						TBX18_uc010kbq.1_Silent_p.G132G	p.G290G	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	5	870	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	290			T-box.		A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.870G>T	CCDS34495.1																																																																																				PASS	0.453	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		7	31	7	31	---	---	---	---
CGA	1081	broad.mit.edu	37	6	87795487	87795487	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:87795487T>A	ENST00000369582.2	-	4	438	c.338A>T	c.(337-339)tAt>tTt	p.Y113F	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	113					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.Y113F(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		AGATTTGTGATAATAACAAGT	0.363																																						uc003plj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)TAT>TTT		glycoprotein hormones, alpha polypeptide							82.0	78.0	79.0					6																	87795487		2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87795487T>A	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.338A>T	6.37:g.87795487T>A	ENSP00000358595:p.Tyr113Phe						p.Y113F	NM_000735	NP_000726	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	4	439	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	113						Missense_Mutation	SNP	ENST00000369582.2	37	c.338A>T	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.721601	0.30503	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.73	4.57	0.56435	.	0.115131	0.64402	N	0.000010	T	0.34658	0.0905	L	0.35593	1.075	0.54753	D	0.999987	B	0.12013	0.005	B	0.20955	0.032	T	0.19063	-1.0317	9	0.38643	T	0.18	-3.6458	12.3796	0.55299	0.1263:0.0:0.0:0.8737	.	113	P01215	GLHA_HUMAN	F	113	.	ENSP00000358595:Y113F	Y	-	2	0	CGA	87852206	1.000000	0.71417	0.995000	0.50966	0.192000	0.23643	3.737000	0.55060	0.995000	0.38917	-0.274000	0.10170	TAT		PASS	0.363	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		6	17	6	17	---	---	---	---
FHL5	9457	broad.mit.edu	37	6	97063549	97063549	+	Silent	SNP	C	C	T	rs201145903		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:97063549C>T	ENST00000326771.2	+	7	1136	c.756C>T	c.(754-756)tgC>tgT	p.C252C	FHL5_ENST00000541107.1_Silent_p.C252C	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	252	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C252C(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GCTTTAACTGCGGGAAATGCT	0.458																																						uc003pos.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(754-756)TGC>TGT		activator of cAMP-responsive element modulator		C	,	1,4405	2.1+/-5.4	0,1,2202	113.0	110.0	111.0		756,756	-2.8	1.0	6		111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FHL5	NM_001170807.1,NM_020482.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	252/285,252/285	97063549	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9457					nucleus	zinc ion binding	g.chr6:97063549C>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.756C>T	6.37:g.97063549C>T						FHL5_uc003pot.1_Silent_p.C252C	p.C252C	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	7	1161	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	252			LIM zinc-binding 4.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	37	c.756C>T	CCDS5035.1																																																																																				PASS	0.458	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		14	28	14	28	---	---	---	---
GPR63	81491	broad.mit.edu	37	6	97247021	97247021	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:97247021T>A	ENST00000229955.3	-	2	932	c.587A>T	c.(586-588)aAg>aTg	p.K196M	GPR63_ENST00000417980.1_Missense_Mutation_p.K196M	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.K196M(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AATCAGAACCTTAGCTCTATA	0.448																																						uc010kcl.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(586-588)AAG>ATG		G protein-coupled receptor 63							78.0	74.0	76.0					6																	97247021		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247021T>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.587A>T	6.37:g.97247021T>A	ENSP00000229955:p.Lys196Met					GPR63_uc003pou.2_Missense_Mutation_p.K196M	p.K196M	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1065	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	196			Cytoplasmic (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.587A>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.768048	0.69878	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.38560	1.13;1.13;1.13	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67043	-0.5770	10	0.72032	D	0.01	-3.7308	15.33	0.74200	0.0:0.0:0.0:1.0	.	196	Q9BZJ6	GPR63_HUMAN	M	220;196;196;196	ENSP00000393170:K196M;ENSP00000229955:K196M;ENSP00000358273:K196M	ENSP00000229955:K196M	K	-	2	0	GPR63	97353742	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.655000	0.83696	2.088000	0.63022	0.528000	0.53228	AAG		PASS	0.448	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			17	63	17	63	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97610000	97610000	+	Missense_Mutation	SNP	C	C	T	rs149054595	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:97610000C>T	ENST00000275053.4	-	22	3528	c.3263G>A	c.(3262-3264)cGc>cAc	p.R1088H	MMS22L_ENST00000369251.2_Missense_Mutation_p.R1048H	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1088					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.R1088H(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGATGCTAAGCGAGGAGGAGG	0.408													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		17403	0.0		0.0	False		,,,				2504	0.0					uc003ppb.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(3262-3264)CGC>CAC		hypothetical protein LOC253714		C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	120.0	115.0	117.0		3263	4.8	1.0	6	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MMS22L	NM_198468.2	29	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	1088/1244	97610000	6,13000	2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97610000C>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3263G>A	6.37:g.97610000C>T	ENSP00000275053:p.Arg1088His					C6orf167_uc011eaf.1_Missense_Mutation_p.R1048H	p.R1088H	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	22	3529	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	1088					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3263G>A	CCDS5039.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.4	4.408624	0.83340	0.001135	1.16E-4	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.28666	1.6;1.6	5.68	4.81	0.61882	.	0.052393	0.85682	D	0.000000	T	0.40222	0.1108	M	0.69823	2.125	0.49213	D	0.999764	D;D	0.76494	0.999;0.997	D;P	0.65443	0.935;0.847	T	0.37033	-0.9723	10	0.49607	T	0.09	-19.3496	11.5924	0.50953	0.0:0.8568:0.0:0.1432	.	1048;1088	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	H	1088;1048	ENSP00000275053:R1088H;ENSP00000358254:R1048H	ENSP00000275053:R1088H	R	-	2	0	MMS22L	97716721	1.000000	0.71417	0.971000	0.41717	0.952000	0.60782	2.641000	0.46587	1.395000	0.46643	0.650000	0.86243	CGC		PASS	0.408	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		5	35	5	35	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838339	100838339	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:100838339G>T	ENST00000369208.3	-	12	2981	c.2199C>A	c.(2197-2199)ggC>ggA	p.G733G	SIM1_ENST00000262901.4_Silent_p.G733G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	733	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				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.G733G(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)		AGCCATTACAGCCCAAGGAAT	0.448																																						uc003pqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2197-2199)GGC>GGA		single-minded homolog 1							174.0	160.0	165.0					6																	100838339		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.chr6:100838339G>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.2199C>A	6.37:g.100838339G>T						SIM1_uc010kcu.2_Silent_p.G733G	p.G733G	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2406	-		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)	733			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.2199C>A	CCDS5045.1																																																																																				PASS	0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		14	87	14	87	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102074447	102074448	+	Missense_Mutation	DNP	CC	CC	AA	rs577245133		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:102074447_102074448CC>AA	ENST00000421544.1	+	3	966_967	c.476_477CC>AA	c.(475-477)gCC>gAA	p.A159E	GRIK2_ENST00000369137.3_Missense_Mutation_p.A159E|GRIK2_ENST00000413795.1_Missense_Mutation_p.A159E|GRIK2_ENST00000369138.1_Missense_Mutation_p.A159E|GRIK2_ENST00000358361.3_Missense_Mutation_p.A159E|GRIK2_ENST00000369134.4_Missense_Mutation_p.A110E|GRIK2_ENST00000318991.6_Missense_Mutation_p.A159E	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	159					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A159E(2)|p.A159D(2)|p.A159A(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCAGCCGTGCCATTTTAGACC	0.46																																						uc003pqp.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(475-477)GCC>GAC|c.(475-477)GCC>GCA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074447C>A|g.chr6:102074448C>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	Exception_encountered	6.37:g.102074447_102074448delinsAA	ENSP00000397026:p.Ala159Glu					GRIK2_uc003pqn.2_Missense_Mutation_p.A159D|GRIK2_uc003pqo.3_Missense_Mutation_p.A159D|GRIK2_uc010kcw.2_Missense_Mutation_p.A159D|GRIK2_uc003pqn.2_Silent_p.A159A|GRIK2_uc003pqo.3_Silent_p.A159A|GRIK2_uc010kcw.2_Silent_p.A159A	p.A159D|p.A159A	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	725|726	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	159			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation|Silent	SNP	ENST00000421544.1	37	c.476C>A|c.477C>A	CCDS5048.1																																																																																				PASS	0.460	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			11	41|42	11	41	---	---	---	---
PRDM1	639	broad.mit.edu	37	6	106555270	106555270	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:106555270A>C	ENST00000369096.4	+	7	2621	c.2387A>C	c.(2386-2388)gAt>gCt	p.D796A	PRDM1_ENST00000369091.2_Missense_Mutation_p.D760A|PRDM1_ENST00000369089.3_Missense_Mutation_p.D662A	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	796					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D760A(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GAGTCATCAGATCTACCCCTC	0.453			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2				Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(2386-2388)GAT>GCT		PR domain containing 1, with ZNF domain isoform							84.0	87.0	86.0					6																	106555270		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106555270A>C		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2387A>C	6.37:g.106555270A>C	ENSP00000358092:p.Asp796Ala					PRDM1_uc003pre.2_Missense_Mutation_p.D662A	p.D796A	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2621	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	796					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.2387A>C	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	13.56	2.272787	0.40194	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.08984	3.08;3.03;3.06	5.78	5.78	0.91487	.	0.139910	0.64402	D	0.000005	T	0.07098	0.0180	L	0.57536	1.79	0.58432	D	0.999999	B;P	0.37525	0.349;0.598	B;B	0.40066	0.11;0.318	T	0.12578	-1.0542	10	0.38643	T	0.18	-21.3364	16.1115	0.81266	1.0:0.0:0.0:0.0	.	662;796	Q86WM7;O75626	.;PRDM1_HUMAN	A	760;796;759;662	ENSP00000358087:D760A;ENSP00000358092:D796A;ENSP00000358085:D662A	ENSP00000358085:D662A	D	+	2	0	PRDM1	106661963	1.000000	0.71417	0.891000	0.34965	0.699000	0.40488	8.923000	0.92808	2.207000	0.71202	0.460000	0.39030	GAT		PASS	0.453	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			11	45	11	45	---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108499422	108499422	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:108499422T>C	ENST00000368986.4	+	5	1327	c.619T>C	c.(619-621)Tcc>Ccc	p.S207P	NR2E1_ENST00000368983.3_Missense_Mutation_p.S244P	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	207	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S207P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCCAGCCTTCTCCACGCTGTC	0.507																																						uc003psg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(619-621)TCC>CCC		nuclear receptor subfamily 2, group E, member 1							107.0	88.0	94.0					6																	108499422		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108499422T>C	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.619T>C	6.37:g.108499422T>C	ENSP00000357982:p.Ser207Pro						p.S207P	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	5	1374	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	207			Ligand-binding (By similarity).		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.619T>C	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	T	31	5.095244	0.94197	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96856	-4.15;-4.15	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.146092	0.64402	D	0.000005	D	0.88262	0.6389	N	0.17248	0.465	0.80722	D	1	P	0.38677	0.642	B	0.39258	0.295	D	0.88694	0.3211	10	0.22706	T	0.39	.	14.0221	0.64563	0.0:0.0:0.0:1.0	.	207	Q9Y466	NR2E1_HUMAN	P	207;244	ENSP00000357982:S207P;ENSP00000357979:S244P	ENSP00000357979:S244P	S	+	1	0	NR2E1	108606115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.134000	0.65973	0.528000	0.53228	TCC		PASS	0.507	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			11	31	11	31	---	---	---	---
CEP57L1	285753	broad.mit.edu	37	6	109476454	109476454	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:109476454G>A	ENST00000517392.1	+	6	1027	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CEP57L1_ENST00000519095.1_Missense_Mutation_p.E201K|CEP57L1_ENST00000359793.3_Missense_Mutation_p.E201K|CEP57L1_ENST00000407272.1_Missense_Mutation_p.E201K|CEP57L1_ENST00000523787.1_Missense_Mutation_p.E204K|CEP57L1_ENST00000521277.1_Missense_Mutation_p.E185K|CEP57L1_ENST00000521522.1_Missense_Mutation_p.E201K|CEP57L1_ENST00000520883.1_Missense_Mutation_p.E125K|CEP57L1_ENST00000336977.4_Missense_Mutation_p.E125K|CEP57L1_ENST00000368968.2_Missense_Mutation_p.E201K|CEP57L1_ENST00000368970.2_Missense_Mutation_p.E201K	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	201					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.E201K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						ACATTTAGAAGAAAAACTTAA	0.299																																						uc010kdk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GAA>AAA		hypothetical protein LOC285753							45.0	52.0	50.0					6																	109476454		2197	4279	6476	SO:0001583	missense	285753					microtubule|microtubule organizing center		g.chr6:109476454G>A	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.601G>A	6.37:g.109476454G>A	ENSP00000427844:p.Glu201Lys					C6orf182_uc003psv.3_Missense_Mutation_p.E185K|C6orf182_uc003psw.3_Missense_Mutation_p.E201K|C6orf182_uc003psx.3_Missense_Mutation_p.E201K|C6orf182_uc010kdl.2_Missense_Mutation_p.E201K|C6orf182_uc003psy.3_Missense_Mutation_p.E201K	p.E201K	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	8	1178	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	201			Potential.		G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.601G>A	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.728899	0.69074	.	.	ENSG00000183137	ENST00000521277;ENST00000517392;ENST00000407272;ENST00000336977;ENST00000540778;ENST00000519286;ENST00000518853;ENST00000521522;ENST00000519407;ENST00000519095;ENST00000368968;ENST00000522490;ENST00000523209;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;D;T;T;T;D;T;T;T;T	0.84370	0.87;-1.29;-1.29;0.87;0.87;-1.29;0.87;-1.84;-1.29;-1.29;0.87;-1.84;-1.29;0.87;-1.29;-1.29	5.05	4.15	0.48705	.	0.307062	0.35585	N	0.003116	D	0.88474	0.6446	M	0.68952	2.095	0.45403	D	0.998382	D;D;D;D	0.65815	0.995;0.987;0.994;0.994	D;P;P;P	0.70487	0.969;0.906;0.897;0.897	D	0.88077	0.2804	10	0.46703	T	0.11	-16.0831	13.4016	0.60887	0.0:0.2908:0.7092:0.0	.	201;201;201;185	Q8IYX8;G5E992;Q6P2R3;E5RJH1	CE57L_HUMAN;.;.;.	K	185;201;201;125;201;201;201;201;63;201;201;63;63;201;125;204;201	ENSP00000430558:E185K;ENSP00000427844:E201K;ENSP00000383936:E201K;ENSP00000337392:E125K;ENSP00000429812:E201K;ENSP00000430265:E201K;ENSP00000428344:E201K;ENSP00000430565:E63K;ENSP00000430911:E201K;ENSP00000357964:E201K;ENSP00000429957:E63K;ENSP00000430013:E63K;ENSP00000357966:E201K;ENSP00000430011:E125K;ENSP00000430529:E204K;ENSP00000352841:E201K	ENSP00000337392:E125K	E	+	1	0	CEP57L1	109583147	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.923000	0.48868	2.348000	0.79779	0.655000	0.94253	GAA		PASS	0.299	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		14	47	14	47	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109787067	109787067	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:109787067T>A	ENST00000230122.3	-	7	2248	c.2081A>T	c.(2080-2082)cAg>cTg	p.Q694L	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	694					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q694L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GCTCTGCTCCTGGCCAAGTGG	0.552																																						uc003ptl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2080-2082)CAG>CTG		zinc finger and BTB domain containing 24 isoform							110.0	107.0	108.0					6																	109787067		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787067T>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.2081A>T	6.37:g.109787067T>A	ENSP00000230122:p.Gln694Leu					MICAL1_uc011eaq.1_5'UTR|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Q638L|ZBTB24_uc010kdt.1_RNA	p.Q694L	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2249	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	694					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.2081A>T	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708907	0.48517	.	.	ENSG00000112365	ENST00000230122	T	0.10288	2.89	5.42	3.01	0.34805	.	0.906916	0.09278	N	0.824192	T	0.01976	0.0062	N	0.08118	0	0.32233	N	0.573684	B	0.02656	0.0	B	0.04013	0.001	T	0.37911	-0.9685	10	0.87932	D	0	-0.1135	7.4252	0.27094	0.1417:0.0:0.1487:0.7096	.	694	O43167	ZBT24_HUMAN	L	694	ENSP00000230122:Q694L	ENSP00000230122:Q694L	Q	-	2	0	ZBTB24	109893760	0.997000	0.39634	1.000000	0.80357	0.724000	0.41520	0.618000	0.24373	0.479000	0.27511	0.528000	0.53228	CAG		PASS	0.552	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		16	45	16	45	---	---	---	---
FYN	2534	broad.mit.edu	37	6	112035579	112035579	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:112035579T>A	ENST00000354650.3	-	5	921	c.315A>T	c.(313-315)aaA>aaT	p.K105N	FYN_ENST00000368682.3_Missense_Mutation_p.K105N|FYN_ENST00000538466.1_Missense_Mutation_p.K105N|FYN_ENST00000368667.2_Missense_Mutation_p.K105N|FYN_ENST00000356013.2_Missense_Mutation_p.K105N|FYN_ENST00000229471.4_Missense_Mutation_p.K105N|FYN_ENST00000368678.4_Missense_Mutation_p.K105N|FYN_ENST00000229470.5_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	105	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.K105N(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ATTTTTCTCCTTTGTGAAAAC	0.438																																						uc003pvj.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)|skin(1)	7						c.(313-315)AAA>AAT		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						94.0	90.0	91.0					6																	112035579		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112035579T>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.315A>T	6.37:g.112035579T>A	ENSP00000346671:p.Lys105Asn					FYN_uc003pvi.2_Missense_Mutation_p.K105N|FYN_uc003pvk.2_Missense_Mutation_p.K105N|FYN_uc003pvh.2_Missense_Mutation_p.K105N	p.K105N	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	4	655	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	105			SH3.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.315A>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490404	0.84962	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000356013;ENST00000538466;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598;ENST00000518630;ENST00000523570;ENST00000484067	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.77	4.62	0.57501	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.988;0.995;1.0	D	0.83628	0.0143	10	0.87932	D	0	.	11.9257	0.52819	0.0:0.0679:0.0:0.9321	.	105;105;105	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	N	105	ENSP00000357671:K105N;ENSP00000346671:K105N;ENSP00000229471:K105N;ENSP00000357656:K105N;ENSP00000357667:K105N;ENSP00000348295:K105N;ENSP00000440646:K105N;ENSP00000427993:K105N;ENSP00000429294:K105N;ENSP00000429866:K105N;ENSP00000428695:K105N;ENSP00000430364:K105N;ENSP00000428493:K105N;ENSP00000429992:K105N;ENSP00000429590:K105N;ENSP00000429813:K105N;ENSP00000428045:K105N;ENSP00000428983:K105N	ENSP00000229471:K105N	K	-	3	2	FYN	112142272	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.816000	0.48026	1.125000	0.41998	0.533000	0.62120	AAA		PASS	0.438	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			4	35	4	35	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132179888	132179888	+	Splice_Site	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:132179888G>A	ENST00000360971.2	+	7	815		c.e7+1			NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CATTGTCACCGTAAGCTCTGC	0.318																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.e7+1		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						122.0	109.0	114.0					6																	132179888		2203	4300	6503	SO:0001630	splice_region_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132179888G>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.795+1G>A	6.37:g.132179888G>A						ENPP1_uc003qcy.2_5'Flank	p.T265_splice	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	7	815	+	Breast(56;0.0505)							Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Splice_Site	SNP	ENST00000360971.2	37	c.795_splice	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811996	0.90707	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6691	0.95903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP1	132221581	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.057000	0.93889	2.721000	0.93114	0.591000	0.81541	.		PASS	0.318	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Intron	6	15	6	15	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132891790	132891790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:132891790C>A	ENST00000275198.1	+	1	330	c.330C>A	c.(328-330)tgC>tgA	p.C110*		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	110					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.C110*(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCCACACCTGCTGTGATGTGG	0.488																																						uc011eck.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(328-330)TGC>TGA		trace amine associated receptor 6							226.0	207.0	213.0					6																	132891790		2203	4300	6503	SO:0001587	stop_gained	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891790C>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.330C>A	6.37:g.132891790C>A	ENSP00000275198:p.Cys110*						p.C110*	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	330	+	Breast(56;0.112)		110			Helical; Name=3; (Potential).		Q5VUQ4	Nonsense_Mutation	SNP	ENST00000275198.1	37	c.330C>A	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491286	0.44249	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	.	.	.	4.99	0.952	0.19584	.	0.231446	0.23983	N	0.042644	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-13.3656	6.2125	0.20638	0.1312:0.5575:0.0:0.3114	.	.	.	.	X	110;93	.	ENSP00000275198:C110X	C	+	3	2	TAAR6	132933483	0.000000	0.05858	0.763000	0.31416	0.416000	0.31233	0.088000	0.14979	0.295000	0.22570	-0.224000	0.12420	TGC		PASS	0.488	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		26	108	26	108	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133072503	133072503	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:133072503G>T	ENST00000326499.6	-	5	1105	c.981C>A	c.(979-981)atC>atA	p.I327I	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000526192.1_5'Flank|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Silent_p.I274I	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	327	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.I327I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAAATGGTTTGATGGTGGTGG	0.443																																						uc003qdt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(979-981)ATC>ATA		vanin 2 isoform 1 precursor							95.0	95.0	95.0					6																	133072503		2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133072503G>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.981C>A	6.37:g.133072503G>T						VNN2_uc003qds.2_Silent_p.I36I|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.I274I	p.I327I	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	992	-			327			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.981C>A	CCDS5161.1																																																																																				PASS	0.443	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			18	70	18	70	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144835120	144835120	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:144835120C>T	ENST00000367545.3	+	35	5020	c.5020C>T	c.(5020-5022)Cta>Tta	p.L1674L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1674	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L1674L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCTGAAGCTCTATTGGATGA	0.378																																						uc003qkt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(5020-5022)CTA>TTA		utrophin							112.0	114.0	114.0					6																	144835120		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144835120C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5020C>T	6.37:g.144835120C>T							p.L1674L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	35	5112	+		Ovarian(120;0.218)	1674			Interaction with SYNM.|Spectrin 12.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.5020C>T	CCDS34547.1																																																																																				PASS	0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			21	44	21	44	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161007565	161007565	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr6:161007565T>C	ENST00000316300.5	-	25	4089	c.4045A>G	c.(4045-4047)Acg>Gcg	p.T1349A	LPA_ENST00000447678.1_Missense_Mutation_p.T1349A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3857	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.T1349A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGACATTGCGTCAGGTTGCAG	0.522																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4045-4047)ACG>GCG		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						133.0	134.0	134.0					6																	161007565		2169	4284	6453	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161007565T>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4045A>G	6.37:g.161007565T>C	ENSP00000321334:p.Thr1349Ala						p.T1349A	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4165	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3857			Kringle 34.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4045A>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	11.47	1.647861	0.29336	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62105	0.05;0.05	2.39	-0.211	0.13172	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.44705	0.1306	L	0.39326	1.205	0.18873	N	0.999983	B	0.29862	0.259	P	0.52627	0.704	T	0.58696	-0.7591	9	0.23891	T	0.37	.	3.5052	0.07688	0.0:0.1523:0.2345:0.6132	.	3857	P08519	APOA_HUMAN	A	1349	ENSP00000321334:T1349A;ENSP00000395608:T1349A	ENSP00000321334:T1349A	T	-	1	0	LPA	160927555	0.762000	0.28451	0.697000	0.30258	0.474000	0.32979	0.996000	0.29719	0.132000	0.18615	0.358000	0.22013	ACG		PASS	0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		12	33	12	33	---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1489875	1489875	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:1489875C>A	ENST00000297508.7	-	2	368		c.e2+1		MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2						actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCCACTCACCAGTTTATTG	0.562																																						uc003skj.3																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e2+1		MICAL-like 2 isoform 1							51.0	67.0	62.0					7																	1489875		2201	4299	6500	SO:0001630	splice_region_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1489875C>A	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.192+1G>T	7.37:g.1489875C>A						MICALL2_uc003skl.1_RNA	p.L64_splice	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	2	339	-		Ovarian(82;0.0253)						D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Splice_Site	SNP	ENST00000297508.7	37	c.192_splice	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451366	0.26074	.	.	ENSG00000164877	ENST00000297508	.	.	.	3.42	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9836	0.71330	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MICALL2	1456401	1.000000	0.71417	0.980000	0.43619	0.342000	0.28953	6.585000	0.74062	1.901000	0.55032	0.455000	0.32223	.		PASS	0.562	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924	Intron	30	70	30	70	---	---	---	---
MMD2	221938	broad.mit.edu	37	7	4947082	4947082	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:4947082G>A	ENST00000404774.3	-	7	952	c.758C>T	c.(757-759)gCc>gTc	p.A253V	MMD2_ENST00000401401.3_Missense_Mutation_p.A229V|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	253						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.A229V(1)|p.A253V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CCTCCAGATGGCATAGTAGTG	0.547																																						uc003sno.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(757-759)GCC>GTC		monocyte to macrophage							106.0	107.0	107.0					7																	4947082		2035	4178	6213	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947082G>A	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.758C>T	7.37:g.4947082G>A	ENSP00000384690:p.Ala253Val					MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.A229V|MMD2_uc010ksq.2_3'UTR	p.A253V	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	954	-		Ovarian(82;0.0175)	253			Helical; (Potential).		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.758C>T	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543434	0.96474	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	.	.	.	5.53	5.53	0.82687	.	0.208124	0.39985	N	0.001201	D	0.83059	0.5172	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.967	D	0.85085	0.0948	9	0.87932	D	0	-37.7259	18.5266	0.90975	0.0:0.0:1.0:0.0	.	253;229	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	V	253;229	.	ENSP00000384141:A229V	A	-	2	0	MMD2	4913608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.699000	0.98703	2.610000	0.88304	0.650000	0.86243	GCC		PASS	0.547	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		19	44	19	44	---	---	---	---
FERD3L	222894	broad.mit.edu	37	7	19184786	19184786	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:19184786C>A	ENST00000275461.3	-	1	258	c.200G>T	c.(199-201)tGc>tTc	p.C67F	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	67	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C67F(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						gtccacttcgcactcctcttc	0.632																																						uc003suo.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(199-201)TGC>TTC		nephew of atonal 3							63.0	42.0	49.0					7																	19184786		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184786C>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.200G>T	7.37:g.19184786C>A	ENSP00000275461:p.Cys67Phe					uc003sun.1_RNA	p.C67F	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	259	-			67			Poly-Glu.		Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.200G>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	3.390	-0.124545	0.06795	.	.	ENSG00000146618	ENST00000275461	D	0.96334	-3.98	5.32	1.87	0.25490	.	1.690420	0.03379	N	0.200123	D	0.89996	0.6877	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81911	-0.0716	10	0.56958	D	0.05	-4.4493	2.8824	0.05652	0.1975:0.403:0.0:0.3994	.	67	Q96RJ6	FER3L_HUMAN	F	67	ENSP00000275461:C67F	ENSP00000275461:C67F	C	-	2	0	FERD3L	19151311	0.000000	0.05858	0.134000	0.22075	0.177000	0.22998	-0.088000	0.11198	0.551000	0.29008	0.508000	0.49915	TGC		PASS	0.632	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			5	23	5	23	---	---	---	---
EVX1	2128	broad.mit.edu	37	7	27285911	27285911	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:27285911C>A	ENST00000496902.4	+	3	1577	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Missense_Mutation_p.A182D|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	364	Ala-rich.				embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A364D(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GCGCCCCGGGCTGCCGCCGCC	0.756																																						uc003szd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1090-1092)GCT>GAT		even-skipped homeobox 1							5.0	6.0	5.0					7																	27285911		1339	2829	4168	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27285911C>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.1091C>A	7.37:g.27285911C>A	ENSP00000419266:p.Ala364Asp					EVX1_uc011jzn.1_Missense_Mutation_p.A182D|EVX1_uc010kuy.1_3'UTR	p.A364D	NM_001989	NP_001980	P49640	EVX1_HUMAN			3	1577	+			364			Ala-rich.		A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.1091C>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623423	0.46840	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.92911	-2.95;-3.13	5.14	4.2	0.49525	.	0.231048	0.45126	D	0.000382	D	0.86986	0.6065	L	0.44542	1.39	0.31452	N	0.670595	P	0.42827	0.791	B	0.37650	0.255	D	0.84987	0.0892	10	0.14252	T	0.57	-7.7979	15.0544	0.71901	0.0:0.8574:0.1426:0.0	.	364	P49640	EVX1_HUMAN	D	364;182	ENSP00000419266:A364D;ENSP00000446458:A182D	ENSP00000419266:A364D	A	+	2	0	EVX1	27252436	0.999000	0.42202	0.998000	0.56505	0.549000	0.35272	5.612000	0.67681	2.381000	0.81170	0.462000	0.41574	GCT		PASS	0.756	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			4	5	4	5	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30831179	30831179	+	Silent	SNP	C	C	T	rs536189237		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:30831179C>T	ENST00000265299.6	+	5	1139	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	354								p.P354P(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGCCAGCCCGCACCTGTCA	0.542																																						uc003tbt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1060-1062)CCC>CCT		hypothetical protein LOC84182							33.0	41.0	39.0					7																	30831179		2012	4183	6195	SO:0001819	synonymous_variant	84182							g.chr7:30831179C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1062C>T	7.37:g.30831179C>T						FAM188B_uc010kwe.2_Silent_p.P325P	p.P354P	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			5	1139	+			354					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.1062C>T	CCDS43565.1																																																																																				PASS	0.542	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		7	21	7	21	---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36447361	36447361	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:36447361A>G	ENST00000265748.2	+	5	1113	c.892A>G	c.(892-894)Aaa>Gaa	p.K298E	ANLN_ENST00000396068.2_Missense_Mutation_p.K298E|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	298	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.K298E(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTCTCCAGTGAAATCTACTAC	0.353																																						uc003tff.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(892-894)AAA>GAA		anillin, actin binding protein							69.0	75.0	73.0					7																	36447361		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36447361A>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.892A>G	7.37:g.36447361A>G	ENSP00000265748:p.Lys298Glu					ANLN_uc011kaz.1_Missense_Mutation_p.K210E|ANLN_uc003tfg.2_Missense_Mutation_p.K298E|ANLN_uc010kxe.2_Missense_Mutation_p.K298E	p.K298E	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			5	1096	+			298			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.892A>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025929	0.54683	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.04809	3.55;3.55	5.22	5.22	0.72569	.	0.521548	0.22432	N	0.060125	T	0.05914	0.0154	L	0.50333	1.59	0.32553	N	0.532152	B;B;P;B	0.36959	0.062;0.44;0.575;0.44	B;B;B;B	0.32980	0.024;0.11;0.156;0.11	T	0.10245	-1.0638	10	0.39692	T	0.17	-12.9657	11.3528	0.49598	0.8376:0.1624:0.0:0.0	.	175;298;298;298	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	E	298	ENSP00000265748:K298E;ENSP00000379380:K298E	ENSP00000265748:K298E	K	+	1	0	ANLN	36413886	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	3.497000	0.53295	2.279000	0.76181	0.472000	0.43445	AAA		PASS	0.353	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		16	27	16	27	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40118369	40118369	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:40118369C>G	ENST00000181839.4	+	11	3553	c.2948C>G	c.(2947-2949)cCt>cGt	p.P983R	CDK13_ENST00000340829.5_Missense_Mutation_p.P983R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	983	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.P983R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCCTTGGATCCTAGTAAGCGC	0.448																																						uc003thh.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(2947-2949)CCT>CGT		cell division cycle 2-like 5 isoform 1							102.0	99.0	100.0					7																	40118369		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40118369C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2948C>G	7.37:g.40118369C>G	ENSP00000181839:p.Pro983Arg					CDK13_uc003thi.3_Missense_Mutation_p.P983R|CDK13_uc003thj.2_Missense_Mutation_p.P34R	p.P983R	NM_003718	NP_003709	Q14004	CDK13_HUMAN			11	3230	+			983			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2948C>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868038	0.72065	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.57107	0.42;0.42	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.82857	0.5128	H	0.96833	3.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88560	0.3122	8	.	.	.	-10.4943	19.4084	0.94658	0.0:1.0:0.0:0.0	.	983;983	Q14004-2;Q14004	.;CDK13_HUMAN	R	983	ENSP00000181839:P983R;ENSP00000340557:P983R	.	P	+	2	0	CDK13	40084894	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.805000	0.86005	2.654000	0.90174	0.609000	0.83330	CCT		PASS	0.448	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		10	58	10	58	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42005485	42005485	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:42005485C>T	ENST00000395925.3	-	15	3270	c.3186G>A	c.(3184-3186)tcG>tcA	p.S1062S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1062					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1062S(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GACAGGGGGACGAGTGGAAGT	0.642									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			2	Substitution - coding silent(2)		lung(1)|breast(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3184-3186)TCG>TCA		GLI-Kruppel family member GLI3							56.0	59.0	58.0					7																	42005485		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005485C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3186G>A	7.37:g.42005485C>T						GLI3_uc011kbg.1_Silent_p.S1003S	p.S1062S	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3277	-			1062					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3186G>A	CCDS5465.1																																																																																				PASS	0.642	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		5	34	5	34	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48550699	48550699	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:48550699T>C	ENST00000435803.1	+	51	13568	c.13544T>C	c.(13543-13545)gTc>gCc	p.V4515A	ABCA13_ENST00000544596.1_Missense_Mutation_p.V245A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4515					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V4460A(1)|p.V4515A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGTTTCCGTCTGCCTGTGT	0.433																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13543-13545)GTC>GCC		ATP binding cassette, sub-family A (ABC1),							108.0	105.0	106.0					7																	48550699		1919	4124	6043	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48550699T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13544T>C	7.37:g.48550699T>C	ENSP00000411096:p.Val4515Ala					ABCA13_uc010kys.1_Missense_Mutation_p.V1590A|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.V245A	p.V4515A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			51	13569	+			4515			Helical; (Potential).		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13544T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249733	0.59212	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.82167	-1.58;-1.58;-1.58	5.17	5.17	0.71159	.	0.000000	0.43260	D	0.000584	T	0.82240	0.4994	L	0.35414	1.06	0.43010	D	0.994541	P;D;D	0.67145	0.907;0.992;0.996	P;P;D	0.65323	0.702;0.901;0.934	T	0.78165	-0.2310	10	0.02654	T	1	.	13.0427	0.58908	0.0:0.0:0.0:1.0	.	245;2217;4515	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	A	4515;288;245	ENSP00000411096:V4515A;ENSP00000391042:V288A;ENSP00000442634:V245A	ENSP00000391042:V288A	V	+	2	0	ABCA13	48521245	0.938000	0.31826	0.996000	0.52242	0.890000	0.51754	1.924000	0.40065	2.050000	0.60909	0.460000	0.39030	GTC		PASS	0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	45	6	45	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255478	70255478	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:70255478G>A	ENST00000342771.4	+	19	3597	c.3276G>A	c.(3274-3276)agG>agA	p.R1092R	AUTS2_ENST00000406775.2_Silent_p.R1068R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1092								p.R1092R(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGCTGGGCAGGGACTTCCTGC	0.637																																						uc003tvw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3274-3276)AGG>AGA		autism susceptibility candidate 2 isoform 1							17.0	20.0	19.0					7																	70255478		2203	4300	6503	SO:0001819	synonymous_variant	26053							g.chr7:70255478G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3276G>A	7.37:g.70255478G>A						AUTS2_uc003tvx.3_Silent_p.R1068R|AUTS2_uc011keg.1_Silent_p.R544R	p.R1092R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4019	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1092					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.3276G>A	CCDS5539.1																																																																																				PASS	0.637	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			4	19	4	19	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71252799	71252799	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:71252799C>A	ENST00000329008.5	-	6	919	c.621G>T	c.(619-621)ctG>ctT	p.L207L	CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000395276.2_Silent_p.L207L|CALN1_ENST00000395275.2_Silent_p.L249L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000405452.2_Silent_p.L207L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592																																						uc003twa.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(619-621)CTG>CTT		calneuron 1 isoform 2							118.0	92.0	101.0					7																	71252799		2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252799C>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.621G>T	7.37:g.71252799C>A						CALN1_uc003twb.3_Silent_p.L249L|CALN1_uc003twc.3_Silent_p.L207L	p.L207L	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1148	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	207			Helical; Anchor for type IV membrane protein; (Potential).		J3KQA7	Silent	SNP	ENST00000329008.5	37	c.621G>T	CCDS5541.1																																																																																				PASS	0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		4	27	4	27	---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76828528	76828528	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:76828528G>T	ENST00000248598.5	-	1	615	c.583C>A	c.(583-585)Ccc>Acc	p.P195T	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	195						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.P195T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTGGCTGGGACACTTTGAA	0.313																																						uc003ugb.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(583-585)CCC>ACC		fibrinogen-like 2 precursor							131.0	126.0	128.0					7																	76828528		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828528G>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.583C>A	7.37:g.76828528G>T	ENSP00000248598:p.Pro195Thr					CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	p.P195T	NM_006682	NP_006673	Q14314	FGL2_HUMAN			1	623	-			195						Missense_Mutation	SNP	ENST00000248598.5	37	c.583C>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271117	0.40194	.	.	ENSG00000127951	ENST00000248598	T	0.58358	0.34	5.87	4.04	0.47022	.	0.144445	0.64402	D	0.000005	T	0.46288	0.1385	L	0.55481	1.735	0.58432	D	0.999999	B	0.23316	0.083	B	0.17433	0.018	T	0.45026	-0.9289	10	0.41790	T	0.15	.	11.4484	0.50138	0.1489:0.0:0.8511:0.0	.	195	Q14314	FGL2_HUMAN	T	195	ENSP00000248598:P195T	ENSP00000248598:P195T	P	-	1	0	FGL2	76666464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.173000	0.31920	1.620000	0.50308	0.655000	0.94253	CCC		PASS	0.313	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		13	60	13	60	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87049318	87049318	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:87049318C>A	ENST00000265723.4	-	19	2501	c.2390G>T	c.(2389-2391)aGa>aTa	p.R797I	ABCB4_ENST00000358400.3_Missense_Mutation_p.R797I|ABCB4_ENST00000359206.3_Missense_Mutation_p.R797I|ABCB4_ENST00000545634.1_Missense_Mutation_p.R797I|ABCB4_ENST00000453593.1_Missense_Mutation_p.R797I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	797	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R797I(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCCTACCTGTCTTAGCATTGC	0.428																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(2389-2391)AGA>ATA		ATP-binding cassette, subfamily B, member 4							185.0	169.0	174.0					7																	87049318		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87049318C>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2390G>T	7.37:g.87049318C>A	ENSP00000265723:p.Arg797Ile					ABCB4_uc003uiw.1_Missense_Mutation_p.R797I|ABCB4_uc003uix.1_Missense_Mutation_p.R797I	p.R797I	NM_018849	NP_061337	P21439	MDR3_HUMAN			19	2466	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		797			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2390G>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970407	0.74246	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	6.03	5.15	0.70609	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	H	0.94925	3.6	0.80722	D	1	P;P;P	0.52577	0.898;0.943;0.954	P;P;D	0.65323	0.628;0.891;0.934	D	0.96395	0.9292	10	0.66056	D	0.02	-15.6693	11.3214	0.49424	0.0:0.862:0.0:0.138	.	797;797;797	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	I	797	ENSP00000352135:R797I;ENSP00000351172:R797I;ENSP00000265723:R797I;ENSP00000392983:R797I;ENSP00000437465:R797I	ENSP00000265723:R797I	R	-	2	0	ABCB4	86887254	1.000000	0.71417	0.979000	0.43373	0.778000	0.44026	3.340000	0.52143	1.563000	0.49615	0.655000	0.94253	AGA		PASS	0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		20	83	20	83	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87170713	87170713	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:87170713A>G	ENST00000265724.3	-	19	2696	c.2279T>C	c.(2278-2280)cTa>cCa	p.L760P	ABCB1_ENST00000543898.1_Missense_Mutation_p.L696P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	760	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L760P(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCCAAGGGCTAGAAACAATAG	0.299																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2278-2280)CTA>CCA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						89.0	92.0	91.0					7																	87170713		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87170713A>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2279T>C	7.37:g.87170713A>G	ENSP00000265724:p.Leu760Pro					ABCB1_uc011khc.1_Missense_Mutation_p.L696P	p.L760P	NM_000927	NP_000918	P08183	MDR1_HUMAN			19	2697	-	Esophageal squamous(14;0.00164)		760			Helical; (Potential).|ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2279T>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534172	0.64972	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91351	-2.83;-2.83	5.65	5.65	0.86999	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.149815	0.45867	D	0.000322	D	0.95943	0.8679	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.975;0.99	D	0.96640	0.9473	10	0.87932	D	0	-9.6212	15.8179	0.78618	1.0:0.0:0.0:0.0	.	696;760	B5AK60;P08183	.;MDR1_HUMAN	P	541;760;696	ENSP00000265724:L760P;ENSP00000444095:L696P	ENSP00000265724:L760P	L	-	2	0	ABCB1	87008649	0.996000	0.38824	0.981000	0.43875	0.532000	0.34746	4.741000	0.62095	2.268000	0.75426	0.533000	0.62120	CTA		PASS	0.299	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		11	49	11	49	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87174183	87174183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:87174183C>A	ENST00000265724.3	-	17	2437	c.2020G>T	c.(2020-2022)Gga>Tga	p.G674*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.G610*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	674					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G674*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTTGTGATCCACGGACACTC	0.408																																						uc003uiz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2020-2022)GGA>TGA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						163.0	145.0	151.0					7																	87174183		2203	4300	6503	SO:0001587	stop_gained	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87174183C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2020G>T	7.37:g.87174183C>A	ENSP00000265724:p.Gly674*					ABCB1_uc011khc.1_Nonsense_Mutation_p.G610*	p.G674*	NM_000927	NP_000918	P08183	MDR1_HUMAN			17	2438	-	Esophageal squamous(14;0.00164)		674			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	c.2020G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	43	10.483333	0.99413	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.45	4.33	0.51752	.	0.544825	0.15130	N	0.278873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-2.6121	4.4236	0.11492	0.2145:0.6505:0.0:0.1351	.	.	.	.	X	455;674;610	.	ENSP00000265724:G674X	G	-	1	0	ABCB1	87012119	0.010000	0.17322	0.035000	0.18076	0.953000	0.61014	2.105000	0.41825	2.732000	0.93576	0.650000	0.86243	GGA		PASS	0.408	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		12	67	12	67	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94059648	94059648	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:94059648C>T	ENST00000297268.6	+	52	4515	c.4044C>T	c.(4042-4044)gaC>gaT	p.D1348D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1348	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.D1348D(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACCTTTGGACATCGGTGGTG	0.358										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(4042-4044)GAC>GAT		alpha 2 type I collagen precursor	Collagenase(DB00048)						220.0	210.0	214.0					7																	94059648		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94059648C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.4044C>T	7.37:g.94059648C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Silent_p.D200D	p.D1348D	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		52	4515	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1348			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.4044C>T	CCDS34682.1																																																																																				PASS	0.358	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		25	121	25	121	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95125305	95125305	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:95125305C>A	ENST00000325885.5	+	2	494	c.423C>A	c.(421-423)caC>caA	p.H141Q	ASB4_ENST00000428113.1_Missense_Mutation_p.H141Q|ASB4_ENST00000257621.4_3'UTR	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	141					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.H141Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TAAGTGGACACACAGCTTTGC	0.468																																						uc011kij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(421-423)CAC>CAA		ankyrin repeat and SOCS box-containing protein 4							201.0	161.0	174.0					7																	95125305		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95125305C>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.423C>A	7.37:g.95125305C>A	ENSP00000321388:p.His141Gln					ASB4_uc003unx.2_Missense_Mutation_p.H141Q	p.H141Q	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	423	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		141			ANK 3.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.423C>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742962	0.30865	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.63417	-0.04;-0.04	5.35	3.41	0.39046	Ankyrin repeat-containing domain (3);	0.110781	0.64402	D	0.000004	T	0.36524	0.0970	N	0.04959	-0.14	0.40939	D	0.984455	B;B	0.24768	0.001;0.111	B;B	0.23275	0.002;0.045	T	0.11817	-1.0572	10	0.27785	T	0.31	-26.2905	8.8195	0.35016	0.0:0.6314:0.2133:0.1553	.	141;141	Q9Y574;Q14D68	ASB4_HUMAN;.	Q	141	ENSP00000321388:H141Q;ENSP00000397070:H141Q	ENSP00000321388:H141Q	H	+	3	2	ASB4	94963241	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.216000	0.32443	0.769000	0.33313	-0.797000	0.03246	CAC		PASS	0.468	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		12	41	12	41	---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95751058	95751058	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:95751058C>A	ENST00000265631.5	-	17	1887		c.e17-1		SLC25A13_ENST00000416240.2_Splice_Site|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Splice_Site			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13						aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.?(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AATACACGAGCTTTAAAAAAA	0.348																																						uc003uof.3																			1	Unknown(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.e17-1		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						100.0	104.0	103.0					7																	95751058		2203	4300	6503	SO:0001630	splice_region_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95751058C>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1751-1G>T	7.37:g.95751058C>A						SLC25A13_uc003uog.3_Splice_Site_p.A585_splice|SLC25A13_uc011kik.1_Splice_Site_p.A476_splice	p.A584_splice	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		17	1942	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)							O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Splice_Site	SNP	ENST00000265631.5	37	c.1751_splice	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749339	0.69533	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.753	0.91823	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A13	95588994	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.651000	0.83577	2.758000	0.94735	0.561000	0.74099	.		PASS	0.348	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	Intron	10	79	10	79	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100345809	100345809	+	RNA	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:100345809T>C	ENST00000348028.3	+	0	1238				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V358A(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGTGGCAGTTGATGCAACC	0.617																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1072-1074)GTT>GCT		zonadhesin isoform 3							63.0	65.0	64.0					7																	100345809		1946	4147	6093			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345809T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345809T>C						ZAN_uc003uwk.2_Missense_Mutation_p.V358A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.V358A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		10	1238	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		358			MAM 2.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.1073T>C		.	.	.	.	.	.	.	.	.	.	T	16.93	3.257556	0.59321	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02656	4.21;4.21;4.21	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.34828	N	0.003660	T	0.15132	0.0365	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	T	0.00123	-1.2026	10	0.87932	D	0	.	11.1526	0.48469	0.0:0.0:0.0:1.0	.	358;358	F5H0T8;Q9Y493	.;ZAN_HUMAN	A	358	ENSP00000445943:V358A;ENSP00000445091:V358A;ENSP00000444427:V358A	ENSP00000423579:V358A	V	+	2	0	ZAN	100183745	1.000000	0.71417	0.988000	0.46212	0.311000	0.27955	2.093000	0.41710	2.044000	0.60594	0.454000	0.30748	GTT		PASS	0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	29	4	29	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679498	100679498	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:100679498A>C	ENST00000306151.4	+	3	4865	c.4801A>C	c.(4801-4803)Aaa>Caa	p.K1601Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1601	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.K1601Q(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATTGACTCCAAAACTCAGGT	0.468																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4801-4803)AAA>CAA		mucin 17 precursor							206.0	203.0	204.0					7																	100679498		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679498A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4801A>C	7.37:g.100679498A>C	ENSP00000302716:p.Lys1601Gln					MUC17_uc010lho.1_RNA	p.K1601Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4854	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1601			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4801A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	3.159	-0.172620	0.06421	.	.	ENSG00000169876	ENST00000306151	T	0.02280	4.36	0.815	0.815	0.18763	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.01281	0.0	T	0.49513	-0.8932	9	0.14252	T	0.57	.	3.9926	0.09543	1.0:0.0:0.0:0.0	.	1601	Q685J3	MUC17_HUMAN	Q	1601	ENSP00000302716:K1601Q	ENSP00000302716:K1601Q	K	+	1	0	MUC17	100466218	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.700000	0.05081	0.646000	0.30693	0.076000	0.15429	AAA		PASS	0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		26	126	26	126	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683521	100683521	+	Missense_Mutation	SNP	G	G	A	rs150470478		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:100683521G>A	ENST00000306151.4	+	3	8888	c.8824G>A	c.(8824-8826)Ggt>Agt	p.G2942S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2942	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G2942S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGTGGCCGGTTCTGAGGC	0.488																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8824-8826)GGT>AGT		mucin 17 precursor							218.0	226.0	223.0					7																	100683521		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683521G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8824G>A	7.37:g.100683521G>A	ENSP00000302716:p.Gly2942Ser					MUC17_uc010lho.1_RNA	p.G2942S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8877	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2942			Extracellular (Potential).|47.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8824G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	2.038	-0.420813	0.04734	.	.	ENSG00000169876	ENST00000306151	T	0.01821	4.62	0.743	-1.49	0.08718	.	.	.	.	.	T	0.00552	0.0018	N	0.03608	-0.345	0.09310	N	1	P	0.36199	0.543	B	0.19666	0.026	T	0.43163	-0.9408	9	0.02654	T	1	.	2.2067	0.03937	0.4066:0.3167:0.2767:0.0	.	2942	Q685J3	MUC17_HUMAN	S	2942	ENSP00000302716:G2942S	ENSP00000302716:G2942S	G	+	1	0	MUC17	100470241	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.209000	0.09358	-2.236000	0.00713	-1.958000	0.00481	GGT		PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		47	175	47	175	---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102944925	102944925	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:102944925G>T	ENST00000249269.4	+	6	762	c.724G>T	c.(724-726)Gct>Tct	p.A242S	PMPCB_ENST00000428154.1_Missense_Mutation_p.A242S|PMPCB_ENST00000420236.2_Missense_Mutation_p.A137S	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	242					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.A242S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATAGTGCTTGCTGCTGCTGG	0.343																																						uc003vbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(724-726)GCT>TCT		mitochondrial processing peptidase beta subunit							114.0	120.0	118.0					7																	102944925		2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102944925G>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.724G>T	7.37:g.102944925G>T	ENSP00000249269:p.Ala242Ser					PMPCB_uc010liu.1_Missense_Mutation_p.A242S|PMPCB_uc003vbk.1_Missense_Mutation_p.A242S|PMPCB_uc003vbm.2_Missense_Mutation_p.A151S|PMPCB_uc010liv.2_Missense_Mutation_p.A148S|PMPCB_uc010liw.2_Missense_Mutation_p.A151S|PMPCB_uc011kll.1_Missense_Mutation_p.A137S|PMPCB_uc011klm.1_Missense_Mutation_p.A117S	p.A242S	NM_004279	NP_004270	O75439	MPPB_HUMAN			6	758	+			242					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.724G>T	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355540	0.61293	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.08282	3.11;3.11;3.11	5.37	5.37	0.77165	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.56769	1.78	0.80722	D	1	B;B;B;B;B;B;B	0.29936	0.081;0.083;0.072;0.083;0.024;0.041;0.262	B;B;B;B;B;B;B	0.42692	0.395;0.228;0.289;0.165;0.288;0.165;0.286	T	0.05852	-1.0860	10	0.22706	T	0.39	.	19.1312	0.93408	0.0:0.0:1.0:0.0	.	137;137;242;242;233;242;242	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	S	242;242;137	ENSP00000249269:A242S;ENSP00000390035:A242S;ENSP00000410393:A137S	ENSP00000249269:A242S	A	+	1	0	PMPCB	102732161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.490000	0.73645	2.515000	0.84797	0.650000	0.86243	GCT		PASS	0.343	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		12	63	12	63	---	---	---	---
SLC26A5	375611	broad.mit.edu	37	7	103014876	103014876	+	Silent	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:103014876G>C	ENST00000306312.3	-	20	2466	c.2205C>G	c.(2203-2205)ccC>ccG	p.P735P	SLC26A5_ENST00000432958.2_Silent_p.P703P|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Silent_p.P737P|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.P168P|SLC26A5_ENST00000393723.1_Silent_p.P705P|SLC26A5_ENST00000393730.1_Silent_p.P703P|SLC26A5_ENST00000393729.1_Silent_p.P698P|SLC26A5_ENST00000339444.6_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	735					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.P735P(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GAGTGGCATTGGGCTCCAAGT	0.498																																						uc003vbz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2203-2205)CCC>CCG		prestin isoform a							50.0	44.0	46.0					7																	103014876		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103014876G>C	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2205C>G	7.37:g.103014876G>C						SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.P703P|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.P735P	NM_198999	NP_945350	P58743	S26A5_HUMAN			20	2441	-			735			Cytoplasmic (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.2205C>G	CCDS5733.1																																																																																				PASS	0.498	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		5	22	5	22	---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112415234	112415234	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:112415234C>A	ENST00000312814.6	-	3	1828	c.1268G>T	c.(1267-1269)tGc>tTc	p.C423F	TMEM168_ENST00000454074.1_Missense_Mutation_p.C423F|TMEM168_ENST00000480969.1_5'UTR	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	423						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.C423F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ACTGTACCTGCAGAAGTTGGT	0.343																																						uc003vgn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1267-1269)TGC>TTC		transmembrane protein 168							101.0	89.0	94.0					7																	112415234		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112415234C>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1268G>T	7.37:g.112415234C>A	ENSP00000323068:p.Cys423Phe					TMEM168_uc010lju.2_Missense_Mutation_p.C423F|TMEM168_uc011kmr.1_Missense_Mutation_p.C39F	p.C423F	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			3	1660	-			423					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1268G>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098456	0.76870	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785;ENST00000449743;ENST00000441474	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	P	0.59424	0.857	T	0.76217	-0.3040	9	0.66056	D	0.02	.	18.494	0.90858	0.0:1.0:0.0:0.0	.	423	Q9H0V1	TM168_HUMAN	F	423;423;39;63;39;75	.	ENSP00000323068:C423F	C	-	2	0	TMEM168	112202470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.722000	0.84778	2.446000	0.82766	0.563000	0.77884	TGC		PASS	0.343	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		5	26	5	26	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113517826	113517826	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:113517826C>A	ENST00000284601.3	-	4	3389	c.3321G>T	c.(3319-3321)tgG>tgT	p.W1107C		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1107					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.W1107C(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCAGGATAGCCAGGACAATG	0.343																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(3319-3321)TGG>TGT		protein phosphatase 1, regulatory (inhibitor)							88.0	89.0	88.0					7																	113517826		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113517826C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3321G>T	7.37:g.113517826C>A	ENSP00000284601:p.Trp1107Cys						p.W1107C	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	3352	-			1107					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3321G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382118	0.24944	.	.	ENSG00000154415	ENST00000284601	T	0.32023	1.47	5.85	4.92	0.64577	.	0.117279	0.36482	N	0.002571	T	0.32912	0.0845	L	0.58669	1.825	0.58432	D	0.999999	P	0.38992	0.653	B	0.37047	0.24	T	0.13229	-1.0517	10	0.46703	T	0.11	-4.1681	16.4605	0.84033	0.0:0.869:0.131:0.0	.	1107	Q16821	PPR3A_HUMAN	C	1107	ENSP00000284601:W1107C	ENSP00000284601:W1107C	W	-	3	0	PPP1R3A	113305062	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.522000	0.53480	2.761000	0.94854	0.650000	0.86243	TGG		PASS	0.343	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		6	54	6	54	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120764491	120764491	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:120764491G>T	ENST00000310396.5	+	8	1492	c.1025G>T	c.(1024-1026)aGt>aTt	p.S342I	CPED1_ENST00000450913.2_Missense_Mutation_p.S342I|CPED1_ENST00000423795.1_Missense_Mutation_p.S122I	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	342						endoplasmic reticulum (GO:0005783)		p.S342I(1)									GAAGTATTCAGTGAAACATCT	0.343																																						uc003vjq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(1024-1026)AGT>ATT		hypothetical protein LOC79974 isoform 1							72.0	70.0	70.0					7																	120764491		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120764491G>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1025G>T	7.37:g.120764491G>T	ENSP00000309772:p.Ser342Ile					C7orf58_uc003vjr.1_Missense_Mutation_p.S342I|C7orf58_uc003vjs.3_Missense_Mutation_p.S342I|C7orf58_uc003vjt.3_Missense_Mutation_p.S122I|C7orf58_uc010lkk.1_Missense_Mutation_p.S122I	p.S342I	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			8	1472	+	all_neural(327;0.117)		342					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1025G>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590481	0.86851	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.08	5.08	0.68730	.	0.398440	0.28742	N	0.014299	T	0.67534	0.2903	M	0.76002	2.32	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.61800	0.885;0.894;0.836	T	0.71695	-0.4515	10	0.72032	D	0.01	.	18.4275	0.90614	0.0:0.0:1.0:0.0	.	122;342;342	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	I	342;342;342;122;122	ENSP00000309772:S342I;ENSP00000398082:S342I;ENSP00000406122:S342I;ENSP00000415573:S122I;ENSP00000391952:S122I	ENSP00000309772:S342I	S	+	2	0	C7orf58	120551727	1.000000	0.71417	0.853000	0.33588	0.948000	0.59901	4.523000	0.60545	2.519000	0.84933	0.591000	0.81541	AGT		PASS	0.343	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		19	49	19	49	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120935621	120935621	+	Missense_Mutation	SNP	C	C	G	rs201789315		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:120935621C>G	ENST00000310396.5	+	23	3463	c.2996C>G	c.(2995-2997)tCg>tGg	p.S999W		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	999						endoplasmic reticulum (GO:0005783)		p.S999W(1)|p.S999L(1)									AATTTTCGATCGCCATATCAT	0.363																																						uc003vjq.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2995-2997)TCG>TGG		hypothetical protein LOC79974 isoform 1							105.0	99.0	101.0					7																	120935621		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120935621C>G		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2996C>G	7.37:g.120935621C>G	ENSP00000309772:p.Ser999Trp						p.S999W	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			23	3443	+	all_neural(327;0.117)		999					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2996C>G	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037526	0.54896	.	.	ENSG00000106034	ENST00000310396	T	0.19394	2.15	5.65	5.65	0.86999	.	0.172404	0.40144	N	0.001173	T	0.49575	0.1565	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46076	-0.9217	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	999	A4D0V7	CG058_HUMAN	W	999	ENSP00000309772:S999W	ENSP00000309772:S999W	S	+	2	0	C7orf58	120722857	1.000000	0.71417	0.398000	0.26321	0.158000	0.22134	3.726000	0.54977	2.824000	0.97209	0.655000	0.94253	TCG		PASS	0.363	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		12	44	12	44	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121731879	121731879	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:121731879A>G	ENST00000393376.1	-	17	1989	c.1894T>C	c.(1894-1896)Tac>Cac	p.Y632H	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.Y632H			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	632	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.Y632H(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCACCACAGTAGGAAATATAT	0.333																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1894-1896)TAC>CAC		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						33.0	34.0	34.0					7																	121731879		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121731879A>G	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1894T>C	7.37:g.121731879A>G	ENSP00000377040:p.Tyr632His					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.Y632H|AASS_uc011knw.1_Missense_Mutation_p.Y120H	p.Y632H	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			17	1990	-			632			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1894T>C	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213438	0.79352	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.39056	1.1;1.1	5.58	5.58	0.84498	.	0.048632	0.85682	D	0.000000	T	0.62295	0.2416	M	0.81614	2.55	0.46586	D	0.999116	P	0.48350	0.909	P	0.56163	0.793	T	0.67987	-0.5528	10	0.87932	D	0	-12.3038	15.4142	0.74952	1.0:0.0:0.0:0.0	.	632	Q9UDR5	AASS_HUMAN	H	632	ENSP00000377040:Y632H;ENSP00000403768:Y632H	ENSP00000351834:Y632H	Y	-	1	0	AASS	121519115	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.757000	0.91657	2.130000	0.65690	0.528000	0.53228	TAC		PASS	0.333	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		3	18	3	18	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173172	126173172	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:126173172T>C	ENST00000339582.2	-	9	3072	c.2264A>G	c.(2263-2265)tAc>tGc	p.Y755C	GRM8_ENST00000444921.2_Missense_Mutation_p.Y755C|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.Y755C			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	755					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.Y755C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAGGATACTGTATCCAAGTGA	0.433										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2263-2265)TAC>TGC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						127.0	110.0	116.0					7																	126173172		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173172T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2264A>G	7.37:g.126173172T>C	ENSP00000344173:p.Tyr755Cys	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Y755C|GRM8_uc010lkz.1_RNA	p.Y755C	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2575	-		Prostate(267;0.186)	755			Helical; Name=5; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2264A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688539	0.68271	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.93659	-3.26;-3.26;-3.26	5.61	5.61	0.85477	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98701	1.0700	10	0.87932	D	0	.	14.9887	0.71368	0.0:0.0:0.0:1.0	.	755;755	O00222-2;O00222	.;GRM8_HUMAN	C	755	ENSP00000344173:Y755C;ENSP00000409790:Y755C;ENSP00000351142:Y755C	ENSP00000344173:Y755C	Y	-	2	0	GRM8	125960408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.147000	0.66899	0.533000	0.62120	TAC		PASS	0.433	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			8	17	8	17	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126882901	126882901	+	Missense_Mutation	SNP	C	C	A	rs200075100		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:126882901C>A	ENST00000339582.2	-	2	1166	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	GRM8_ENST00000444921.2_Missense_Mutation_p.V120L|GRM8_ENST00000405249.1_Missense_Mutation_p.V120L|GRM8_ENST00000358373.3_Missense_Mutation_p.V120L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	120					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.V120L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AATGCCTGCACGAATGTTAGA	0.493										HNSCC(24;0.065)																												uc003vlr.2																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(358-360)GTG>TTG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						142.0	119.0	127.0					7																	126882901		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882901C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.358G>T	7.37:g.126882901C>A	ENSP00000344173:p.Val120Leu	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.V120L|GRM8_uc010lkz.1_RNA	p.V120L	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	669	-		Prostate(267;0.186)	120			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.358G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111421	0.77210	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.6	5.6	0.85130	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.81133	0.4759	M	0.68593	2.085	0.80722	D	1	D;P	0.67145	0.996;0.887	D;P	0.74674	0.984;0.609	T	0.82428	-0.0462	10	0.87932	D	0	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	120;120	O00222-2;O00222	.;GRM8_HUMAN	L	120	ENSP00000344173:V120L;ENSP00000409790:V120L;ENSP00000351142:V120L;ENSP00000385731:V120L;ENSP00000415522:V120L	ENSP00000344173:V120L	V	-	1	0	GRM8	126670137	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	7.818000	0.86416	2.646000	0.89796	0.650000	0.86243	GTG		PASS	0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			9	33	9	33	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128488892	128488892	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:128488892G>T	ENST00000325888.8	+	28	5044	c.4783G>T	c.(4783-4785)Gat>Tat	p.D1595Y	FLNC_ENST00000346177.6_Missense_Mutation_p.D1595Y|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1595					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.D1595Y(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						GGACAATGGGGATGGCACGTA	0.612																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4783-4785)GAT>TAT		gamma filamin isoform a							127.0	144.0	139.0					7																	128488892		2124	4232	6356	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488892G>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.4783G>T	7.37:g.128488892G>T	ENSP00000327145:p.Asp1595Tyr					FLNC_uc003voa.3_Missense_Mutation_p.D1595Y	p.D1595Y	NM_001458	NP_001449	Q14315	FLNC_HUMAN			28	4992	+			1595			Filamin 14.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4783G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380682	0.61845	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94537	-3.45;-3.45	5.09	5.09	0.68999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.052862	0.64402	D	0.000001	D	0.98359	0.9455	H	0.96970	3.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.967;0.996	D	0.99659	1.0993	10	0.87932	D	0	.	18.8541	0.92244	0.0:0.0:1.0:0.0	.	1595;1595	Q14315-2;Q14315	.;FLNC_HUMAN	Y	1595	ENSP00000327145:D1595Y;ENSP00000344002:D1595Y	ENSP00000327145:D1595Y	D	+	1	0	FLNC	128276128	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	6.700000	0.74619	2.513000	0.84729	0.655000	0.94253	GAT		PASS	0.612	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	35	6	35	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137080431	137080431	+	Silent	SNP	T	T	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:137080431T>G	ENST00000288490.5	-	33	2994	c.2994A>C	c.(2992-2994)gcA>gcC	p.A998A	DGKI_ENST00000424189.2_Silent_p.A1011A|DGKI_ENST00000453654.2_Silent_p.A667A|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Silent_p.A980A	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	998					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A998A(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTTGTGCAGTGCAGTCTCAC	0.562																																						uc003vtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2992-2994)GCA>GCC		diacylglycerol kinase, iota							64.0	57.0	60.0					7																	137080431		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137080431T>G	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2994A>C	7.37:g.137080431T>G						DGKI_uc003vtu.2_Silent_p.A667A	p.A998A	NM_004717	NP_004708	O75912	DGKI_HUMAN			33	2995	-			998			ANK 2.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.2994A>C	CCDS5845.1																																																																																				PASS	0.562	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		3	23	3	23	---	---	---	---
TAS2R5	54429	broad.mit.edu	37	7	141491034	141491034	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:141491034G>T	ENST00000247883.4	+	1	1018	c.873G>T	c.(871-873)gtG>gtT	p.V291V		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	291					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.V291V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GGAAGACAGTGTGTGCTCGGA	0.493																																						uc003vwr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(871-873)GTG>GTT		taste receptor T2R5							98.0	102.0	101.0					7																	141491034		2203	4300	6503	SO:0001819	synonymous_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141491034G>T	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.873G>T	7.37:g.141491034G>T							p.V291V	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			1	1018	+	Melanoma(164;0.0171)		291			Cytoplasmic (Potential).		Q645W0|Q75MV7	Silent	SNP	ENST00000247883.4	37	c.873G>T	CCDS5869.1																																																																																				PASS	0.493	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			12	61	12	61	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142630466	142630466	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:142630466G>T	ENST00000265310.1	-	1	439	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	TRPV5_ENST00000442623.1_Missense_Mutation_p.Q31K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	31					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.Q31K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCAGGTGCTGGTCCCAGTCT	0.567																																						uc003wby.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(91-93)CAG>AAG		transient receptor potential cation channel,							139.0	130.0	133.0					7																	142630466		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142630466G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.91C>A	7.37:g.142630466G>T	ENSP00000265310:p.Gln31Lys					TRPV5_uc003wbz.2_Missense_Mutation_p.Q31K	p.Q31K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			1	355	-	Melanoma(164;0.059)		31			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.91C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747967	0.30955	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.51817	0.69;0.69;0.69	4.44	3.55	0.40652	.	0.337011	0.26840	N	0.022230	T	0.41026	0.1141	M	0.72894	2.215	0.09310	N	1	B;B	0.22146	0.038;0.065	B;B	0.16289	0.01;0.015	T	0.30001	-0.9993	10	0.31617	T	0.26	-12.6926	5.397	0.16275	0.1028:0.0:0.6986:0.1986	.	31;31	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	K	31;25;31	ENSP00000265310:Q31K;ENSP00000406361:Q25K;ENSP00000406572:Q31K	ENSP00000265310:Q31K	Q	-	1	0	TRPV5	142340588	0.873000	0.30073	0.214000	0.23707	0.877000	0.50540	1.518000	0.35877	1.078000	0.41014	0.462000	0.41574	CAG		PASS	0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		7	52	7	52	---	---	---	---
TAS2R40	259286	broad.mit.edu	37	7	142919978	142919978	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:142919978C>G	ENST00000408947.3	+	1	849	c.807C>G	c.(805-807)aaC>aaG	p.N269K	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	269					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.N269K(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCACGTCCAACATCTTTGACA	0.483																																						uc011ksx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(805-807)AAC>AAG		taste receptor, type 2, member 40							117.0	116.0	116.0					7																	142919978		1937	4153	6090	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919978C>G	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.807C>G	7.37:g.142919978C>G	ENSP00000386210:p.Asn269Lys						p.N269K	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	807	+	Melanoma(164;0.059)		269			Extracellular (Potential).		A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.807C>G	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980000	0.34942	.	.	ENSG00000221937	ENST00000408947	T	0.37235	1.21	4.93	1.02	0.19986	.	0.402653	0.22488	U	0.059415	T	0.48892	0.1525	M	0.70275	2.135	0.09310	N	1	D	0.65815	0.995	P	0.58620	0.842	T	0.38478	-0.9659	10	0.72032	D	0.01	.	9.0563	0.36408	0.0:0.6085:0.0:0.3915	.	269	P59535	T2R40_HUMAN	K	269	ENSP00000386210:N269K	ENSP00000386210:N269K	N	+	3	2	TAS2R40	142630100	0.000000	0.05858	0.612000	0.29024	0.435000	0.31806	-0.120000	0.10660	0.268000	0.21939	0.655000	0.94253	AAC		PASS	0.483	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			10	93	10	93	---	---	---	---
TMEM139	135932	broad.mit.edu	37	7	142983078	142983078	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:142983078C>A	ENST00000359333.3	+	2	541	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409541.1_Missense_Mutation_p.L10M|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Missense_Mutation_p.L10M|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409102.1_Missense_Mutation_p.L10M|TMEM139_ENST00000409244.1_Missense_Mutation_p.L10M|CASP2_ENST00000392925.2_5'Flank	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	10						integral component of membrane (GO:0016021)		p.L10M(1)		endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					ACTGGGGAGACTGGAGAAGCC	0.547																																						uc010lov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)CTG>ATG		transmembrane protein 139 precursor							104.0	94.0	97.0					7																	142983078		2203	4300	6503	SO:0001583	missense	135932					integral to membrane		g.chr7:142983078C>A	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.28C>A	7.37:g.142983078C>A	ENSP00000352284:p.Leu10Met					CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.L10M|TMEM139_uc003wcl.2_Missense_Mutation_p.L10M|TMEM139_uc003wcm.2_Missense_Mutation_p.L10M|TMEM139_uc003wcn.2_Intron	p.L10M	NM_153345	NP_699176	Q8IV31	TM139_HUMAN			3	167	+	Melanoma(164;0.059)		10					B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	c.28C>A	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053806	0.55218	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	4.77	3.89	0.44902	.	0.145961	0.31760	N	0.007107	T	0.49558	0.1564	L	0.32530	0.975	0.24000	N	0.99621	D	0.89917	1.0	D	0.76575	0.988	T	0.33445	-0.9868	9	0.87932	D	0	-7.5872	9.2434	0.37511	0.0:0.8979:0.0:0.1021	.	10	Q8IV31	TM139_HUMAN	M	10	.	ENSP00000352284:L10M	L	+	1	2	TMEM139	142693200	0.765000	0.28485	0.982000	0.44146	0.629000	0.37895	0.806000	0.27126	1.164000	0.42652	0.456000	0.33151	CTG		PASS	0.547	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		12	34	12	34	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701614	143701614	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:143701614C>A	ENST00000408922.2	+	1	593	c.525C>A	c.(523-525)aaC>aaA	p.N175K		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N175K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATGTCATCAACCACTTCTTCT	0.498																																						uc003wdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(523-525)AAC>AAA		olfactory receptor, family 6, subfamily B,							117.0	114.0	115.0					7																	143701614		2088	4243	6331	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701614C>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.525C>A	7.37:g.143701614C>A	ENSP00000386151:p.Asn175Lys						p.N175K	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	525	+	Melanoma(164;0.0783)		175			Extracellular (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.525C>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122998	0.56613	.	.	ENSG00000221813	ENST00000408922	T	0.00115	8.71	5.26	-1.06	0.10002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	U	0.001384	T	0.00384	0.0012	M	0.83223	2.63	0.34821	D	0.738645	P	0.39326	0.668	P	0.58391	0.838	T	0.55823	-0.8080	10	0.87932	D	0	.	10.6008	0.45365	0.0:0.5563:0.0:0.4437	.	175	O95007	OR6B1_HUMAN	K	175	ENSP00000386151:N175K	ENSP00000386151:N175K	N	+	3	2	OR6B1	143332547	0.012000	0.17670	0.992000	0.48379	0.938000	0.57974	-0.907000	0.04067	-0.327000	0.08551	-0.302000	0.09304	AAC		PASS	0.498	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			13	39	13	39	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147914555	147914555	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:147914555C>T	ENST00000361727.3	+	19	3702	c.3186C>T	c.(3184-3186)tgC>tgT	p.C1062C	CNTNAP2_ENST00000538075.1_Silent_p.C121C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1062	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.C1062C(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)			AGGCGCCCTGCATTCTCCTCT	0.562										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3184-3186)TGC>TGT		cell recognition molecule Caspr2 precursor							112.0	100.0	104.0					7																	147914555		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914555C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3186C>T	7.37:g.147914555C>T		HNSCC(39;0.1)					p.C1062C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3702	+	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)	1062			Laminin G-like 4.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3186C>T	CCDS5889.1																																																																																				PASS	0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			17	66	17	66	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149419958	149419958	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:149419958C>T	ENST00000485033.2	+	6	683	c.683C>T	c.(682-684)aCa>aTa	p.T228I	KRBA1_ENST00000319551.8_Missense_Mutation_p.T228I|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.T228I			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	228								p.T228I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCCCGAGACATCCCCAAGC	0.622																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(682-684)ACA>ATA		KRAB A domain containing 1							47.0	52.0	50.0					7																	149419958		1893	4105	5998	SO:0001583	missense	84626							g.chr7:149419958C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.683C>T	7.37:g.149419958C>T	ENSP00000420112:p.Thr228Ile					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	p.T228I	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		7	1082	+	Melanoma(164;0.165)|Ovarian(565;0.177)		228					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	C	8.746	0.920091	0.17982	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.34472	1.37;1.36;1.36	5.26	-4.65	0.03339	.	1.462120	0.04423	N	0.367944	T	0.20333	0.0489	N	0.24115	0.695	0.09310	N	1	B	0.22003	0.063	B	0.18561	0.022	T	0.15694	-1.0428	10	0.18276	T	0.48	0.4528	6.0302	0.19677	0.0:0.2924:0.2469:0.4607	.	228	A5PL33	KRBA1_HUMAN	I	228	ENSP00000255992:T228I;ENSP00000317165:T228I;ENSP00000420112:T228I	ENSP00000255992:T228I	T	+	2	0	KRBA1	149050891	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.407000	0.02488	-0.872000	0.04037	0.655000	0.94253	ACA		PASS	0.622	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		4	24	4	24	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150554679	150554679	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:150554679T>A	ENST00000493429.1	+	4	1705	c.1121T>A	c.(1120-1122)gTc>gAc	p.V374D	AOC1_ENST00000416793.2_Missense_Mutation_p.V374D|AOC1_ENST00000360937.4_Missense_Mutation_p.V374D|AOC1_ENST00000467291.1_Missense_Mutation_p.V374D			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	374					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.V374D(1)								Amiloride(DB00594)	TACCTCGATGTCGGCTGGGGC	0.607																																						uc003why.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(1120-1122)GTC>GAC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						66.0	72.0	70.0					7																	150554679		2203	4300	6503	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554679T>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1121T>A	7.37:g.150554679T>A	ENSP00000418614:p.Val374Asp					ABP1_uc003whz.1_Missense_Mutation_p.V374D|ABP1_uc003wia.1_Missense_Mutation_p.V374D	p.V374D	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5339	+	all_neural(206;0.219)		374					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1121T>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400198	0.25291	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03663	3.85;3.85;3.85;3.85	5.49	-1.31	0.09230	Copper amine oxidase, C-terminal (3);	0.432174	0.24354	N	0.039246	T	0.11537	0.0281	M	0.76838	2.35	0.21984	N	0.999433	P;D	0.89917	0.934;1.0	P;D	0.79784	0.787;0.993	T	0.05801	-1.0863	10	0.41790	T	0.15	-3.3343	4.9211	0.13871	0.0:0.3139:0.3005:0.3856	.	374;374	C9J690;P19801	.;ABP1_HUMAN	D	374;374;374;374;250	ENSP00000418614:V374D;ENSP00000418328:V374D;ENSP00000354193:V374D;ENSP00000411613:V374D	ENSP00000354193:V374D	V	+	2	0	ABP1	150185612	0.118000	0.22208	0.103000	0.21229	0.044000	0.14063	1.315000	0.33608	-0.139000	0.11414	0.459000	0.35465	GTC		PASS	0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		7	55	7	55	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150645948	150645948	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:150645948C>T	ENST00000262186.5	-	10	2989	c.2588G>A	c.(2587-2589)cGa>cAa	p.R863Q	KCNH2_ENST00000392968.2_Missense_Mutation_p.R767Q|KCNH2_ENST00000330883.4_Missense_Mutation_p.R523Q	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	863					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.R863Q(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACTCACATCTCGCAGGTTGAA	0.562																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2587-2589)CGA>CAA		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						109.0	81.0	90.0					7																	150645948		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150645948C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2588G>A	7.37:g.150645948C>T	ENSP00000262186:p.Arg863Gln					KCNH2_uc003wib.2_Missense_Mutation_p.R523Q|KCNH2_uc011kux.1_Missense_Mutation_p.R767Q	p.R863Q	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	2601	-	all_neural(206;0.219)		863			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.2588G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445890	0.96187	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.99080	-5.02;-5.21;-5.4	3.95	3.95	0.45737	.	0.146510	0.42964	D	0.000634	D	0.99039	0.9671	M	0.75777	2.31	0.80722	D	1	D;D;P	0.89917	0.997;1.0;0.943	P;D;P	0.70935	0.728;0.971;0.576	D	0.99026	1.0819	10	0.87932	D	0	.	13.8824	0.63689	0.0:1.0:0.0:0.0	.	767;863;523	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	Q	523;767;863	ENSP00000328531:R523Q;ENSP00000376695:R767Q;ENSP00000262186:R863Q	ENSP00000262186:R863Q	R	-	2	0	KCNH2	150276881	0.993000	0.37304	0.979000	0.43373	0.963000	0.63663	7.584000	0.82572	2.195000	0.70347	0.561000	0.74099	CGA		PASS	0.562	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		3	19	3	19	---	---	---	---
ASIC3	9311	broad.mit.edu	37	7	150746350	150746350	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr7:150746350G>T	ENST00000349064.5	+	1	576	c.378G>T	c.(376-378)ctG>ctT	p.L126L	ASIC3_ENST00000357922.4_Silent_p.L126L|ASIC3_ENST00000297512.8_Silent_p.L126L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	126					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.L126L(2)									CCGCCTTCCTGCGCGCCCTGG	0.692																																						uc003win.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(376-378)CTG>CTT		amiloride-sensitive cation channel 3 isoform a							37.0	39.0	38.0					7																	150746350		2201	4298	6499	SO:0001819	synonymous_variant	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746350G>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.378G>T	7.37:g.150746350G>T						ACCN3_uc003wio.2_Silent_p.L126L|ACCN3_uc003wip.2_Silent_p.L126L|ACCN3_uc003wiq.2_RNA	p.L126L	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	746	+			126			Extracellular (Potential).		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	c.378G>T	CCDS5916.1																																																																																				PASS	0.692	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		11	33	11	33	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2975995	2975995	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:2975995A>T	ENST00000520002.1	-	43	6914	c.6359T>A	c.(6358-6360)cTa>cAa	p.L2120Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.L2119Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2120Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2120Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2119Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2120Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2120	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.L2119Q(1)|p.L1848Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGGCCTATTAGAATGTACCC	0.468																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6358-6360)CTA>CAA		CUB and Sushi multiple domains 1 precursor							146.0	144.0	144.0					8																	2975995		2023	4179	6202	SO:0001583	missense	64478					integral to membrane		g.chr8:2975995A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6359T>A	8.37:g.2975995A>T	ENSP00000430733:p.Leu2120Gln					CSMD1_uc011kwj.1_Missense_Mutation_p.L1512Q|CSMD1_uc010lrg.2_Missense_Mutation_p.L188Q	p.L2120Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	42	6749	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2120			Extracellular (Potential).|Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6359T>A		.	.	.	.	.	.	.	.	.	.	A	14.77	2.634416	0.47049	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.85	4.85	0.62838	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000017	D	0.90710	0.7085	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.94456	0.7672	10	0.87932	D	0	.	14.7337	0.69402	1.0:0.0:0.0:0.0	.	2120;2120;2119	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	Q	2120;2120;1981;2119;2119	ENSP00000383047:L2120Q;ENSP00000430733:L2120Q;ENSP00000441462:L2119Q;ENSP00000446243:L2119Q	ENSP00000320445:L1981Q	L	-	2	0	CSMD1	2963402	0.999000	0.42202	0.003000	0.11579	0.099000	0.18886	9.036000	0.93758	1.927000	0.55829	0.460000	0.39030	CTA		PASS	0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		17	24	17	24	---	---	---	---
BLK	640	broad.mit.edu	37	8	11421500	11421500	+	Silent	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:11421500C>G	ENST00000259089.4	+	13	1993	c.1401C>G	c.(1399-1401)ggC>ggG	p.G467G	BLK_ENST00000529894.1_Silent_p.G396G	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	467	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G467G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TGTACCGCGGCGTCATCGCCG	0.711																																						uc003wty.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.(1399-1401)GGC>GGG		B lymphoid tyrosine kinase							11.0	12.0	12.0					8																	11421500		2153	4235	6388	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11421500C>G	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1401C>G	8.37:g.11421500C>G						BLK_uc003wtz.2_Silent_p.G396G|BLK_uc003wua.2_Silent_p.G303G	p.G467G	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	13	1982	+			467			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.1401C>G	CCDS5982.1																																																																																				PASS	0.711	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			6	11	6	11	---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17838119	17838119	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:17838119G>A	ENST00000519253.1	+	24	4214	c.3963G>A	c.(3961-3963)atG>atA	p.M1321I	PCM1_ENST00000327578.8_Start_Codon_SNP_p.M1I|PCM1_ENST00000524226.1_Intron|PCM1_ENST00000325083.8_Missense_Mutation_p.M1321I			Q15154	PCM1_HUMAN	pericentriolar material 1	1321	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.M1321I(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTGCCAGTATGTCTAGCACAT	0.398			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(3961-3963)ATG>ATA		pericentriolar material 1							111.0	105.0	107.0					8																	17838119		1864	4106	5970	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17838119G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3963G>A	8.37:g.17838119G>A	ENSP00000431099:p.Met1321Ile					PCM1_uc011kyh.1_Missense_Mutation_p.M1321I|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Intron|PCM1_uc011kyj.1_Missense_Mutation_p.M58I|PCM1_uc003wyk.3_Intron|PCM1_uc011kyk.1_5'Flank	p.M1321I	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	24	4385	+			1321			Interaction with HAP1.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.3963G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.35|13.35	2.210599|2.210599	0.39102|0.39102	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000522275|ENST00000325083;ENST00000519253;ENST00000327578	.|T;T;T	.|0.16196	.|3.72;3.71;2.36	5.28|5.28	4.39|4.39	0.52855|0.52855	.|.	.|0.417764	.|0.29884	.|N	.|0.010959	T|T	0.09992|0.09992	0.0245|0.0245	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.18304|0.18304	-1.0341|-1.0341	5|10	.|0.19147	.|T	.|0.46	-0.2612|-0.2612	7.8605|7.8605	0.29507|0.29507	0.1329:0.0:0.7098:0.1573|0.1329:0.0:0.7098:0.1573	.|.	.|1321;1321;1321	.|D3DSQ0;E7ETA6;Q15154	.|.;.;PCM1_HUMAN	Y|I	42|1321;1321;1	.|ENSP00000327077:M1321I;ENSP00000431099:M1321I;ENSP00000328332:M1I	.|ENSP00000327077:M1321I	C|M	+|+	2|3	0|0	PCM1|PCM1	17882399|17882399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.463000|1.463000	0.35277|0.35277	2.634000|2.634000	0.89283|0.89283	0.650000|0.650000	0.86243|0.86243	TGT|ATG		PASS	0.398	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		22	46	22	46	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52258501	52258501	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:52258501C>A	ENST00000356297.4	-	20	4008	c.3908G>T	c.(3907-3909)aGg>aTg	p.R1303M	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1303					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.R1303M(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)				TCCTCTACTCCTACAGTCTGT	0.428																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(3907-3909)AGG>ATG		peroxidasin homolog-like precursor							115.0	109.0	111.0					8																	52258501		1981	4164	6145	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52258501C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3908G>T	8.37:g.52258501C>A	ENSP00000348645:p.Arg1303Met					PXDNL_uc003xqt.3_Intron	p.R1303M	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			20	4009	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1303					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3908G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.55|13.55	2.271735|2.271735	0.40194|0.40194	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.65916	.|-0.18	4.04|4.04	1.15|1.15	0.20763|0.20763	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63710	.|0.2534	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	.|P	.|0.35944	.|0.529	.|P	.|0.45099	.|0.469	.|T	.|0.58457	.|-0.7633	.|9	.|0.66056	.|D	.|0.02	.|.	4.0152|4.0152	0.09641|0.09641	0.0:0.5726:0.1977:0.2297|0.0:0.5726:0.1977:0.2297	.|.	.|1303	.|A1KZ92	.|PXDNL_HUMAN	X|M	377|1303	.|ENSP00000348645:R1303M	.|ENSP00000348645:R1303M	G|R	-|-	1|2	0|0	PXDNL|PXDNL	52421054|52421054	0.079000|0.079000	0.21365|0.21365	0.001000|0.001000	0.08648|0.08648	0.040000|0.040000	0.13550|0.13550	1.608000|1.608000	0.36847|0.36847	-0.083000|-0.083000	0.12618|0.12618	-0.175000|-0.175000	0.13238|0.13238	GGA|AGG		PASS	0.428	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	40	4	40	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52320778	52320778	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:52320778C>T	ENST00000356297.4	-	17	3506	c.3406G>A	c.(3406-3408)Gat>Aat	p.D1136N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1136N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1136					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.D1136N(1)|p.D335N(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)				GCAGCCGAATCCACGGCCGCA	0.532																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3406-3408)GAT>AAT		peroxidasin homolog-like precursor							80.0	86.0	84.0					8																	52320778		1887	4116	6003	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320778C>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.3406G>A	8.37:g.52320778C>T	ENSP00000348645:p.Asp1136Asn					PXDNL_uc003xqt.3_RNA	p.D1136N	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3507	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1136					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3406G>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.64|13.64	2.297546|2.297546	0.40694|0.40694	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.79454|.	-1.27;-1.27|.	3.82|3.82	2.59|2.59	0.31030|0.31030	.|.	0.358240|.	0.23129|.	N|.	0.051605|.	D|.	0.83069|.	0.5174|.	H|H	0.98256|0.98256	4.185|4.185	0.36635|0.36635	D|D	0.876514|0.876514	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.84305|.	0.0507|.	10|.	0.72032|.	D|.	0.01|.	.|.	7.1819|7.1819	0.25778|0.25778	0.0:0.8031:0.0:0.1969|0.0:0.8031:0.0:0.1969	.|.	1136|.	A1KZ92|.	PXDNL_HUMAN|.	N|X	1136|254	ENSP00000348645:D1136N;ENSP00000444865:D1136N|.	ENSP00000348645:D1136N|.	D|W	-|-	1|3	0|0	PXDNL|PXDNL	52483331|52483331	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	3.196000|3.196000	0.51020|0.51020	0.285000|0.285000	0.22329|0.22329	0.655000|0.655000	0.94253|0.94253	GAT|TGG		PASS	0.532	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		19	68	19	68	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321169	52321169	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:52321169C>A	ENST00000356297.4	-	17	3115	c.3015G>T	c.(3013-3015)gtG>gtT	p.V1005V	PXDNL_ENST00000543296.1_Silent_p.V1005V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1005					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.V1005V(1)|p.V204V(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)				GCTCCGCGCCCACGATCTTCC	0.627																																						uc003xqu.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3013-3015)GTG>GTT		peroxidasin homolog-like precursor							26.0	32.0	30.0					8																	52321169		2102	4236	6338	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321169C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3015G>T	8.37:g.52321169C>A						PXDNL_uc003xqt.3_RNA	p.V1005V	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3116	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1005					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3015G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355899	0.01245	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.11	-4.08	0.03963	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34129	-0.9841	4	.	.	.	.	0.9234	0.01320	0.3072:0.3139:0.1034:0.2755	.	.	.	.	L	124	.	.	W	-	2	0	PXDNL	52483722	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	-2.394000	0.01054	-0.826000	0.04284	-0.797000	0.03246	TGG		PASS	0.627	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	5	5	5	---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68334855	68334855	+	Missense_Mutation	SNP	G	G	T	rs377184096		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:68334855G>T	ENST00000297770.4	-	11	1413	c.1198C>A	c.(1198-1200)Cgt>Agt	p.R400S	CPA6_ENST00000297769.4_Missense_Mutation_p.R156S	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	400						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R400S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CCAGTGTCACGTAGTTCGAAA	0.383																																						uc003xxq.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1198-1200)CGT>AGT		carboxypeptidase A6 isoform 1 precursor							138.0	137.0	137.0					8																	68334855		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334855G>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1198C>A	8.37:g.68334855G>T	ENSP00000297770:p.Arg400Ser					CPA6_uc003xxr.3_Missense_Mutation_p.R156S	p.R400S	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		11	1454	-			400					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.1198C>A	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535120	0.64972	.	.	ENSG00000165078	ENST00000297769;ENST00000297770	T;T	0.29655	1.56;1.56	5.72	5.72	0.89469	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.85041	2.73	0.33934	D	0.642466	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.71899	-0.4453	10	0.48119	T	0.1	.	19.8731	0.96858	0.0:0.0:1.0:0.0	.	156;400	Q8N4T0-3;Q8N4T0	.;CBPA6_HUMAN	S	156;400	ENSP00000297769:R156S;ENSP00000297770:R400S	ENSP00000297769:R156S	R	-	1	0	CPA6	68497409	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.252000	0.78309	2.690000	0.91761	0.591000	0.81541	CGT		PASS	0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		24	73	24	73	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69030786	69030786	+	Splice_Site	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:69030786G>T	ENST00000288368.4	+	27	3605	c.3328G>T	c.(3328-3330)Gac>Tac	p.D1110Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1110					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D1110Y(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTTTTCAGTGACTGCAACAG	0.423																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3328-3330)GAC>TAC		DEP domain containing 2 isoform a							132.0	117.0	122.0					8																	69030786		2203	4300	6503	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69030786G>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3327-1G>T	8.37:g.69030786G>T							p.D1110Y	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			27	3355	+			1110					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3328G>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400391	0.83120	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.37411	1.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.44542	1.39	0.80722	D	1	D	0.61697	0.99	P	0.62649	0.905	T	0.54649	-0.8262	10	0.87932	D	0	.	18.7437	0.91784	0.0:0.0:1.0:0.0	.	1110	Q70Z35	PREX2_HUMAN	Y	1110;1115	ENSP00000288368:D1110Y	ENSP00000288368:D1110Y	D	+	1	0	PREX2	69193340	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	9.399000	0.97285	2.435000	0.82474	0.591000	0.81541	GAC		PASS	0.423	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Missense_Mutation	15	41	15	41	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69104759	69104759	+	Splice_Site	SNP	C	C	G	rs139672596		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:69104759C>G	ENST00000288368.4	+	37	4880	c.4603C>G	c.(4603-4605)Cgg>Ggg	p.R1535G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1535					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R1535G(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGGTGTGCATCGGTATGTGAC	0.488																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4603-4605)CGG>GGG		DEP domain containing 2 isoform a							53.0	45.0	48.0					8																	69104759		2203	4300	6503	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69104759C>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4604+1C>G	8.37:g.69104759C>G							p.R1535G	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			37	4630	+			1535					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4603C>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281263	0.59758	.	.	ENSG00000046889	ENST00000288368	D	0.85629	-2.01	4.88	1.79	0.24919	.	0.136207	0.48767	D	0.000172	D	0.89993	0.6876	M	0.75615	2.305	0.58432	D	0.999999	D	0.60160	0.987	P	0.60609	0.877	D	0.90737	0.4647	10	0.87932	D	0	.	14.224	0.65845	0.3995:0.6005:0.0:0.0	.	1535	Q70Z35	PREX2_HUMAN	G	1535	ENSP00000288368:R1535G	ENSP00000288368:R1535G	R	+	1	2	PREX2	69267313	0.284000	0.24287	0.950000	0.38849	0.352000	0.29268	0.863000	0.27913	0.536000	0.28733	0.460000	0.39030	CGG		PASS	0.488	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Missense_Mutation	7	23	7	23	---	---	---	---
TERF1	7013	broad.mit.edu	37	8	73921123	73921123	+	Start_Codon_SNP	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:73921123T>C	ENST00000276603.5	+	1	25	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TERF1_ENST00000276602.6_Start_Codon_SNP_p.M1T	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	1					age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)	p.M1T(2)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			CCATTTAACATGGCGGAGGAT	0.642																																						uc003xzd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1-3)ATG>ACG		telomeric repeat binding factor 1 isoform 1							13.0	14.0	14.0					8																	73921123		2201	4297	6498	SO:0001582	initiator_codon_variant	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921123T>C	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.2T>C	8.37:g.73921123T>C	ENSP00000276603:p.Met1Thr					TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.M1T	p.M1T	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	27	+	Breast(64;0.218)		1					A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.2T>C	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557652	0.45590	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000518874	.	.	.	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000008	T	0.75273	0.3827	.	.	.	0.80722	D	1	D;D	0.58970	0.984;0.973	D;P	0.66716	0.946;0.885	T	0.78023	-0.2366	8	0.87932	D	0	.	10.3187	0.43753	0.0:0.0:0.0:1.0	.	1;1	P54274-2;P54274	.;TERF1_HUMAN	T	1	.	ENSP00000276602:M1T	M	+	2	0	TERF1	74083677	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.428000	0.52792	2.202000	0.70862	0.533000	0.62120	ATG		PASS	0.642	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489	Missense_Mutation	3	4	3	4	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763598	77763598	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:77763598C>A	ENST00000521891.2	+	10	4889	c.4441C>A	c.(4441-4443)Cat>Aat	p.H1481N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1436N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1455N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1436N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.H1481N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGGATGACCATGGCCTAGA	0.507										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4306-4308)CAT>AAT		zinc finger homeodomain 4							51.0	48.0	49.0					8																	77763598		2039	4181	6220	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763598C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4441C>A	8.37:g.77763598C>A	ENSP00000430497:p.His1481Asn	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.H1481N|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1436N	p.H1436N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4693	+			1436					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4306C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241280	0.39598	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.76;0.72;0.73	5.05	5.05	0.67936	.	0.000000	0.45867	U	0.000327	T	0.40791	0.1131	L	0.29908	0.895	0.58432	D	0.999994	B;B;B	0.22211	0.039;0.066;0.066	B;B;B	0.21708	0.016;0.036;0.036	T	0.25916	-1.0118	10	0.51188	T	0.08	.	18.5796	0.91166	0.0:1.0:0.0:0.0	.	1436;1436;1481	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1481;1481;1436;1436;1455	ENSP00000430497:H1481N;ENSP00000399605:H1436N;ENSP00000050961:H1436N;ENSP00000430848:H1455N	ENSP00000050961:H1436N	H	+	1	0	ZFHX4	77926153	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	2.629000	0.89072	0.555000	0.69702	CAT		PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	17	6	17	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766706	77766706	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:77766706C>T	ENST00000521891.2	+	10	7997	c.7549C>T	c.(7549-7551)Ctt>Ttt	p.L2517F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2472F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2491F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2472F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L2501F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGCACTTCCTTGCTGCTCA	0.483										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7414-7416)CTT>TTT		zinc finger homeodomain 4							181.0	184.0	183.0					8																	77766706		2056	4226	6282	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766706C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7549C>T	8.37:g.77766706C>T	ENSP00000430497:p.Leu2517Phe	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.L2517F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L2472F	p.L2472F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7801	+			2472					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7414C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033476	0.35893	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.63255	-0.03;0.03;0.0;-0.0	4.94	4.94	0.65067	.	0.000000	0.38217	U	0.001777	T	0.76586	0.4008	M	0.73962	2.25	0.58432	D	0.999991	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.78314	0.98;0.991;0.991	T	0.77702	-0.2489	10	0.54805	T	0.06	.	11.78	0.52008	0.0:0.92:0.0:0.08	.	2472;2472;2517	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	2517;2501;2472;2472;2491	ENSP00000430497:L2517F;ENSP00000399605:L2472F;ENSP00000050961:L2472F;ENSP00000430848:L2491F	ENSP00000050961:L2472F	L	+	1	0	ZFHX4	77929261	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.481000	0.45215	2.569000	0.86673	0.650000	0.86243	CTT		PASS	0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		34	115	34	115	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87226774	87226774	+	Silent	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:87226774C>G	ENST00000297524.3	-	4	1384	c.1281G>C	c.(1279-1281)ctG>ctC	p.L427L	CTD-3118D11.3_ENST00000523112.1_RNA|SLC7A13_ENST00000419776.2_3'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	427						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.L427L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGAGAACTAACAGAAGCACGT	0.338																																						uc003ydq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1279-1281)CTG>CTC		solute carrier family 7, (cationic amino acid							74.0	74.0	74.0					8																	87226774		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87226774C>G	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1281G>C	8.37:g.87226774C>G						SLC7A13_uc003ydr.1_3'UTR	p.L427L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			4	1379	-			427			Helical; Name=12; (Potential).		Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.1281G>C	CCDS34917.1																																																																																				PASS	0.338	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		11	37	11	37	---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97156891	97156891	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:97156891G>T	ENST00000287020.5	-	2	1367	c.1268C>A	c.(1267-1269)aCc>aAc	p.T423N		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	423					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.T423N(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					AGTCAATTTGGTGGGCACGCA	0.607																																						uc003yhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1267-1269)ACC>AAC		growth differentiation factor 6 precursor							71.0	75.0	74.0					8																	97156891		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156891G>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1268C>A	8.37:g.97156891G>T	ENSP00000287020:p.Thr423Asn						p.T423N	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			2	1368	-	Breast(36;2.67e-05)		423					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1268C>A	CCDS34926.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.0|24.0|24.0	4.482467|4.482467|4.482467	0.84747|0.84747|0.84747	.|.|.	.|.|.	ENSG00000156466|ENSG00000156466|ENSG00000156466	ENST00000435084|ENST00000454970|ENST00000287020	.|.|D	.|.|0.85258	.|.|-1.96	4.95|4.95|4.95	4.95|4.95|4.95	0.65309|0.65309|0.65309	.|.|Transforming growth factor-beta, C-terminal (3);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.90728|0.90728|0.90728	0.7090|0.7090|0.7090	M|M|M	0.72894|0.72894|0.72894	2.215|2.215|2.215	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.54964	.|.|0.969	.|.|P	.|.|0.60236	.|.|0.871	D|D|D	0.91790|0.91790|0.91790	0.5443|0.5443|0.5443	6|6|10	0.45353|0.87932|0.87932	T|D|D	0.12|0|0	.|.|.	17.1426|17.1426|17.1426	0.86758|0.86758|0.86758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|423	.|.|Q6KF10	.|.|GDF6_HUMAN	Q|T|N	339|270|423	.|.|ENSP00000287020:T423N	ENSP00000412749:H339Q|ENSP00000387704:P270T|ENSP00000287020:T423N	H|P|T	-|-|-	3|1|2	2|0|0	GDF6|GDF6|GDF6	97226067|97226067|97226067	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.595000|9.595000|9.595000	0.98260|0.98260|0.98260	2.567000|2.567000|2.567000	0.86603|0.86603|0.86603	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CCA|ACC		PASS	0.607	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		7	19	7	19	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97316352	97316352	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:97316352C>T	ENST00000517309.1	+	7	1163	c.837C>T	c.(835-837)gaC>gaT	p.D279D	PTDSS1_ENST00000455950.2_Silent_p.D133D|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Silent_p.D76D	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	279					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.D279D(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GATGGTTTGACCCCAAATCTT	0.448																																						uc003yht.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(835-837)GAC>GAT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						206.0	201.0	203.0					8																	97316352		2203	4300	6503	SO:0001819	synonymous_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97316352C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.837C>T	8.37:g.97316352C>T						PTDSS1_uc003yhu.1_Silent_p.D133D	p.D279D	NM_014754	NP_055569	P48651	PTSS1_HUMAN			7	939	+	Breast(36;6.18e-05)		279					E5RFC5|Q9BUQ5	Silent	SNP	ENST00000517309.1	37	c.837C>T	CCDS6271.1																																																																																				PASS	0.448	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			30	156	30	156	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103306322	103306322	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:103306322T>A	ENST00000520539.1	-	33	4816	c.4210A>T	c.(4210-4212)Aca>Tca	p.T1404S	UBR5_ENST00000220959.4_Missense_Mutation_p.T1404S|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.T1398S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1404					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.T1404S(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACTAGTGTACCTAGTAGA	0.313																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4210-4212)ACA>TCA		ubiquitin protein ligase E3 component n-recognin							86.0	85.0	86.0					8																	103306322		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103306322T>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4210A>T	8.37:g.103306322T>A	ENSP00000429084:p.Thr1404Ser					UBR5_uc003yks.1_Missense_Mutation_p.T1404S	p.T1404S	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		33	4243	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1404					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.4210A>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882849	0.91740	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.58652	0.32;0.32;0.32	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.70595	2.14	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.77239	-0.2661	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1398;1404	E7EMW7;O95071	.;UBR5_HUMAN	S	1404;1404;1398	ENSP00000429084:T1404S;ENSP00000220959:T1404S;ENSP00000427819:T1398S	ENSP00000220959:T1404S	T	-	1	0	UBR5	103375498	1.000000	0.71417	0.558000	0.28319	0.981000	0.71138	7.991000	0.88244	2.313000	0.78055	0.455000	0.32223	ACA		PASS	0.313	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		6	41	6	41	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104987671	104987671	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:104987671C>A	ENST00000436393.2	+	14	2439	c.2198C>A	c.(2197-2199)cCt>cAt	p.P733H	RIMS2_ENST00000262231.10_Missense_Mutation_p.P794H|RIMS2_ENST00000406091.3_Missense_Mutation_p.P955H|RIMS2_ENST00000507740.1_Missense_Mutation_p.P747H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1017	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.P747H(2)|p.P955H(1)|p.P733H(1)|p.P1022H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGGGTCTCCTCATCGAGTA	0.428										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2197-2199)CCT>CAT		regulating synaptic membrane exocytosis 2							104.0	103.0	103.0					8																	104987671		1922	4127	6049	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104987671C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2198C>A	8.37:g.104987671C>A	ENSP00000390665:p.Pro733His	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.P955H|RIMS2_uc003ylw.2_Missense_Mutation_p.P747H|RIMS2_uc003ylq.2_Missense_Mutation_p.P747H|RIMS2_uc003ylr.2_Missense_Mutation_p.P794H|RIMS2_uc003ylt.2_Missense_Mutation_p.P340H	p.P733H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2439	+			1017					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2198C>A		.	.	.	.	.	.	.	.	.	.	C	21.7	4.181143	0.78677	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.24538	1.99;2.35;2.11;2.13;1.85;2.51	4.98	4.98	0.66077	.	.	.	.	.	T	0.49729	0.1574	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.87578	0.998;0.99;0.998;0.998;0.995;0.995	T	0.51616	-0.8683	9	0.87932	D	0	.	18.6146	0.91297	0.0:1.0:0.0:0.0	.	1017;1017;733;794;747;955	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	H	955;970;955;1017;794;747;747;733	ENSP00000427018:P955H;ENSP00000384892:P955H;ENSP00000262231:P794H;ENSP00000423559:P747H;ENSP00000386228:P747H;ENSP00000390665:P733H	ENSP00000262231:P794H	P	+	2	0	RIMS2	105056847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.586000	0.67503	2.474000	0.83562	0.561000	0.74099	CCT		PASS	0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	35	12	35	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105405189	105405189	+	Silent	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:105405189A>C	ENST00000351513.2	-	8	1398	c.1266T>G	c.(1264-1266)gcT>gcG	p.A422A	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	422					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.A422A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGAAGTTAACAGCCTGATGAT	0.393																																						uc003yly.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1264-1266)GCT>GCG		dihydropyrimidinase							86.0	91.0	90.0					8																	105405189		2203	4300	6503	SO:0001819	synonymous_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105405189A>C	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1266T>G	8.37:g.105405189A>C						DPYS_uc010mcf.1_5'UTR	p.A422A	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		8	1395	-			422						Silent	SNP	ENST00000351513.2	37	c.1266T>G	CCDS6302.1																																																																																				PASS	0.393	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		14	71	14	71	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113301596	113301596	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:113301596G>A	ENST00000297405.5	-	57	9390	c.9146C>T	c.(9145-9147)tCa>tTa	p.S3049L	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2880L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3009L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2979L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3049	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3049L(1)|p.S3009L(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						AGTGGTACCTGAACAATGAGG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9145-9147)TCA>TTA		CUB and Sushi multiple domains 3 isoform 1							132.0	129.0	130.0					8																	113301596		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301596G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9146C>T	8.37:g.113301596G>A	ENSP00000297405:p.Ser3049Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S2251L|CSMD3_uc003ynt.2_Missense_Mutation_p.S3009L|CSMD3_uc011lhx.1_Missense_Mutation_p.S2880L	p.S3049L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9305	-			3049			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9146C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493127	0.96339	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25250	2.12;2.12;2.13;1.81;2.13	6.17	6.17	0.99709	Complement control module (1);Sushi/SCR/CCP (1);	0.000000	0.56097	D	0.000022	T	0.47229	0.1434	L	0.45581	1.43	0.80722	D	1	D;D;D	0.67145	0.995;0.991;0.996	D;D;D	0.81914	0.995;0.989;0.99	T	0.03483	-1.1032	10	0.33141	T	0.24	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2880;3049;3009	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3009;3049;2319;2880;2979	ENSP00000345799:S3009L;ENSP00000297405:S3049L;ENSP00000341558:S2319L;ENSP00000412263:S2880L;ENSP00000343124:S2979L	ENSP00000297405:S3049L	S	-	2	0	CSMD3	113370772	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.784000	0.85713	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	87	32	87	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113697736	113697736	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:113697736G>T	ENST00000297405.5	-	15	2625	c.2381C>A	c.(2380-2382)gCt>gAt	p.A794D	CSMD3_ENST00000455883.2_Missense_Mutation_p.A690D|CSMD3_ENST00000343508.3_Missense_Mutation_p.A754D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A794D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	794	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A754D(1)|p.A794D(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						AGGCACCTCAGCCCCAGTAAA	0.438										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.(2380-2382)GCT>GAT		CUB and Sushi multiple domains 3 isoform 1							96.0	96.0	96.0					8																	113697736		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697736G>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.2381C>A	8.37:g.113697736G>T	ENSP00000297405:p.Ala794Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A66D|CSMD3_uc003ynt.2_Missense_Mutation_p.A754D|CSMD3_uc011lhx.1_Missense_Mutation_p.A690D	p.A794D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2540	-			794			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2381C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297481	0.81025	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.96	5.96	0.96718	CUB (5);	0.000000	0.64402	D	0.000001	T	0.21718	0.0523	N	0.04275	-0.24	0.47949	D	0.999552	D;D;P	0.89917	0.997;1.0;0.723	D;D;P	0.97110	0.994;1.0;0.545	T	0.34378	-0.9831	10	0.12430	T	0.62	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	690;794;754	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	754;794;134;690;794	ENSP00000345799:A754D;ENSP00000297405:A794D;ENSP00000341558:A134D;ENSP00000412263:A690D;ENSP00000343124:A794D	ENSP00000297405:A794D	A	-	2	0	CSMD3	113766912	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.608000	0.74168	2.826000	0.97356	0.655000	0.94253	GCT		PASS	0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	69	14	69	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118812099	118812099	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:118812099A>G	ENST00000378204.2	-	11	2899	c.2093T>C	c.(2092-2094)tTt>tCt	p.F698S		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	698	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.F698S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCGCTGGGCAAAGTGGTCAGG	0.522			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(2092-2094)TTT>TCT		exostosin 1							68.0	65.0	66.0					8																	118812099		2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118812099A>G	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2093T>C	8.37:g.118812099A>G	ENSP00000367446:p.Phe698Ser						p.F698S	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		11	2866	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		698			Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.2093T>C	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821181	0.90873	.	.	ENSG00000182197	ENST00000378204	T	0.78003	-1.14	5.96	5.96	0.96718	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.75085	2.285	0.80722	D	1	D	0.61697	0.99	P	0.62740	0.906	D	0.87609	0.2502	10	0.56958	D	0.05	-10.0483	16.4484	0.83959	1.0:0.0:0.0:0.0	.	698	Q16394	EXT1_HUMAN	S	698	ENSP00000367446:F698S	ENSP00000367446:F698S	F	-	2	0	EXT1	118881280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.285000	0.76669	0.533000	0.62120	TTT		PASS	0.522	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		13	28	13	28	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133153497	133153497	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:133153497C>A	ENST00000388996.4	-	10	1764	c.1344G>T	c.(1342-1344)ctG>ctT	p.L448L	KCNQ3_ENST00000521134.1_Silent_p.L328L|KCNQ3_ENST00000519445.1_Silent_p.L448L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	448					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.L448L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CATCTACATTCAGAGGGGTAA	0.443																																						uc003ytj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1342-1344)CTG>CTT		potassium voltage-gated channel KQT-like protein							124.0	132.0	129.0					8																	133153497		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153497C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1344G>T	8.37:g.133153497C>A						KCNQ3_uc010mdt.2_Silent_p.L448L	p.L448L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1569	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		448					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.1344G>T	CCDS34943.1																																																																																				PASS	0.443	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		29	92	29	92	---	---	---	---
LRRC6	23639	broad.mit.edu	37	8	133645013	133645013	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:133645013C>T	ENST00000519595.1	-	5	724	c.626G>A	c.(625-627)cGt>cAt	p.R209H	LRRC6_ENST00000250173.1_Missense_Mutation_p.R209H|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Missense_Mutation_p.R209H			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	209					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.R209H(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTGTACCAACGTCCATCAAA	0.378																																						uc003ytk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(625-627)CGT>CAT		leucine rich repeat containing 6							336.0	299.0	311.0					8																	133645013		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133645013C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.626G>A	8.37:g.133645013C>T	ENSP00000429791:p.Arg209His					LRRC6_uc003ytl.2_RNA	p.R209H	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	700	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		209					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.626G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.477006	0.26511	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.54866	0.72;0.55;0.72	5.55	-4.06	0.03986	.	0.981028	0.08319	N	0.964204	T	0.24624	0.0597	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.17107	-1.0380	10	0.13853	T	0.58	0.0428	1.6942	0.02858	0.2009:0.2879:0.099:0.4122	.	209	Q86X45	LRRC6_HUMAN	H	209	ENSP00000429791:R209H;ENSP00000428610:R209H;ENSP00000250173:R209H	ENSP00000250173:R209H	R	-	2	0	LRRC6	133714195	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-0.263000	0.08670	-1.177000	0.02744	-0.143000	0.13931	CGT		PASS	0.378	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		27	210	27	210	---	---	---	---
TG	7038	broad.mit.edu	37	8	133961149	133961149	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:133961149C>A	ENST00000220616.4	+	27	5402	c.5362C>A	c.(5362-5364)Cag>Aag	p.Q1788K	TG_ENST00000542445.1_Missense_Mutation_p.Q158K|TG_ENST00000377869.1_Missense_Mutation_p.Q1731K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1788					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Q1788K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGAGCCACCAGGTGATATT	0.473																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5362-5364)CAG>AAG		thyroglobulin precursor							232.0	202.0	212.0					8																	133961149		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133961149C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5362C>A	8.37:g.133961149C>A	ENSP00000220616:p.Gln1788Lys					TG_uc010mdw.2_Missense_Mutation_p.Q547K|TG_uc011ljb.1_Missense_Mutation_p.Q157K	p.Q1788K	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	27	5403	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1788			Type IIIB.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5362C>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.27|12.27	1.886464|1.886464	0.33348|0.33348	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445	.|T;T;T	.|0.66460	.|-0.0;-0.0;-0.21	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	.|1.155740	.|0.06439	.|N	.|0.725597	T|T	0.68833|0.68833	0.3044|0.3044	M|M	0.73962|0.73962	2.25|2.25	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25955	.|0.138;0.014	.|B;B	.|0.18561	.|0.022;0.008	T|T	0.57093|0.57093	-0.7870|-0.7870	5|10	.|0.39692	.|T	.|0.17	.|.	12.6679|12.6679	0.56851|0.56851	0.0:0.8342:0.1658:0.0|0.0:0.8342:0.1658:0.0	.|.	.|158;1788	.|F5GWW5;P01266	.|.;THYG_HUMAN	Q|K	243|1731;594;1788;158	.|ENSP00000367100:Q1731K;ENSP00000220616:Q1788K;ENSP00000441693:Q158K	.|ENSP00000220616:Q1788K	P|Q	+|+	2|1	0|0	TG|TG	134030331|134030331	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.059000|0.059000	0.15707|0.15707	0.970000|0.970000	0.29383|0.29383	1.450000|1.450000	0.47717|0.47717	0.655000|0.655000	0.94253|0.94253	CCA|CAG		PASS	0.473	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		28	103	28	103	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139151241	139151241	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:139151241T>A	ENST00000395297.1	-	18	4059	c.3889A>T	c.(3889-3891)Agc>Tgc	p.S1297C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1297								p.S1297C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTTTTTGGCTTAGTTGGTAG	0.443										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3889-3891)AGC>TGC		hypothetical protein LOC51059							119.0	115.0	116.0					8																	139151241		1878	4118	5996	SO:0001583	missense	51059							g.chr8:139151241T>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3889A>T	8.37:g.139151241T>A	ENSP00000378710:p.Ser1297Cys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.S1198C|FAM135B_uc003yuz.2_RNA	p.S1297C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4060	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1297					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3889A>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716854	0.89205	.	.	ENSG00000147724	ENST00000395297	T	0.43688	0.94	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69335	-0.5172	10	0.87932	D	0	-22.0407	14.9336	0.70935	0.0:0.0:0.0:1.0	.	1297	Q49AJ0	F135B_HUMAN	C	1297	ENSP00000378710:S1297C	ENSP00000378710:S1297C	S	-	1	0	FAM135B	139220423	1.000000	0.71417	0.965000	0.40720	0.998000	0.95712	8.040000	0.89188	2.136000	0.66102	0.533000	0.62120	AGC		PASS	0.443	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		9	49	9	49	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143425749	143425749	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:143425749C>A	ENST00000307180.3	-	4	440	c.323G>T	c.(322-324)gGg>gTg	p.G108V	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000524325.1_Missense_Mutation_p.G108V|TSNARE1_ENST00000520166.1_Missense_Mutation_p.G108V	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	108					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.G108V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCATGGGGCCCAGCAGCCGA	0.672																																						uc003ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GGG>GTG		t-SNARE domain containing 1							6.0	8.0	7.0					8																	143425749		2114	4203	6317	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425749C>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.323G>T	8.37:g.143425749C>A	ENSP00000303437:p.Gly108Val					TSNARE1_uc011lju.1_Missense_Mutation_p.G108V|TSNARE1_uc003ywj.2_Missense_Mutation_p.G108V|TSNARE1_uc003ywl.3_Intron	p.G108V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			4	441	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		108					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.323G>T	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	1.755	-0.488272	0.04352	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000520462;ENST00000518720	T;T;T;T;T	0.39406	2.51;2.5;2.51;1.18;1.08	3.77	1.74	0.24563	.	0.547984	0.13541	U	0.380235	T	0.23727	0.0574	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20550	0.046;0.046;0.046	B;B;B	0.12156	0.007;0.007;0.007	T	0.18178	-1.0345	10	0.72032	D	0.01	.	7.4285	0.27113	0.18:0.643:0.177:0.0	.	108;108;108	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	V	108;108;108;108;124	ENSP00000428763:G108V;ENSP00000303437:G108V;ENSP00000427770:G108V;ENSP00000429626:G108V;ENSP00000430789:G124V	ENSP00000303437:G108V	G	-	2	0	TSNARE1	143423656	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	0.484000	0.22308	1.792000	0.52537	0.609000	0.83330	GGG		PASS	0.672	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		4	3	4	3	---	---	---	---
FAM83H	286077	broad.mit.edu	37	8	144809011	144809011	+	Missense_Mutation	SNP	C	C	A	rs372449536		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:144809011C>A	ENST00000388913.3	-	5	2745	c.2620G>T	c.(2620-2622)Gct>Tct	p.A874S		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	874					biomineral tissue development (GO:0031214)			p.A874S(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCAGGGTAAGCCGAGGTGGGG	0.622																																						uc003yzk.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2620-2622)GCT>TCT		FAM83H			SER/ALA	1,3787		0,1,1893	22.0	24.0	23.0		2620	3.1	0.8	8		23	0,8218		0,0,4109	no	missense	FAM83H	NM_198488.3	99	0,1,6002	AA,AC,CC		0.0,0.0264,0.0083	possibly-damaging	874/1180	144809011	1,12005	1894	4109	6003	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144809011C>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2620G>T	8.37:g.144809011C>A	ENSP00000373565:p.Ala874Ser					FAM83H_uc010mfk.1_RNA	p.A874S	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2689	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		874					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.2620G>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	10.21	1.286354	0.23478	2.64E-4	0.0	ENSG00000180921	ENST00000388913	T	0.15256	2.44	4.09	3.11	0.35812	.	1.363770	0.05054	N	0.478688	T	0.14743	0.0356	L	0.27053	0.805	0.09310	N	1	P	0.39480	0.675	B	0.37144	0.242	T	0.20907	-1.0261	10	0.21014	T	0.42	.	13.5219	0.61572	0.0:0.7846:0.2154:0.0	.	874	Q6ZRV2	FA83H_HUMAN	S	874	ENSP00000373565:A874S	ENSP00000373565:A874S	A	-	1	0	FAM83H	144880999	0.002000	0.14202	0.751000	0.31187	0.608000	0.37181	0.642000	0.24735	1.975000	0.57531	0.556000	0.70494	GCT		PASS	0.622	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		8	24	8	24	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145697789	145697789	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:145697789G>T	ENST00000301332.2	+	15	2030	c.1653G>T	c.(1651-1653)caG>caT	p.Q551H	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	551	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q551H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	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;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCGTGAGGCAGGGCCCAGAAG	0.652																																						uc003zcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1651-1653)CAG>CAT		kinesin family member C2							23.0	28.0	26.0					8																	145697789		2199	4299	6498	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145697789G>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1653G>T	8.37:g.145697789G>T	ENSP00000301332:p.Gln551His					KIFC2_uc003zda.2_5'Flank	p.Q551H	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		15	1718	+	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)		551			Kinesin-motor.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.1653G>T	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037861	0.35989	.	.	ENSG00000167702	ENST00000301332	T	0.75154	-0.91	4.76	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.32608	N	0.005872	T	0.53965	0.1829	N	0.10760	0.04	0.80722	D	1	B	0.30146	0.27	B	0.36186	0.219	T	0.51741	-0.8667	10	0.18710	T	0.47	-22.0433	8.8022	0.34916	0.0994:0.0:0.9006:0.0	.	551	Q96AC6	KIFC2_HUMAN	H	551	ENSP00000301332:Q551H	ENSP00000301332:Q551H	Q	+	3	2	KIFC2	145668597	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.974000	0.29436	2.470000	0.83445	0.591000	0.81541	CAG		PASS	0.652	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		12	17	12	17	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14759788	14759788	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:14759788C>A	ENST00000380880.3	-	28	6099	c.5316G>T	c.(5314-5316)tcG>tcT	p.S1772S	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.S1772S|FREM1_ENST00000380881.4_Silent_p.S1773S|FREM1_ENST00000380894.1_Silent_p.S308S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1772	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.S185S(1)|p.S1773S(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCACAAAGGCCGAGTCCATGG	0.353																																						uc003zlm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(5314-5316)TCG>TCT		FRAS1 related extracellular matrix 1 precursor							139.0	127.0	131.0					9																	14759788		1844	4091	5935	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14759788C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5316G>T	9.37:g.14759788C>A						FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Silent_p.S308S	p.S1772S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	28	5906	-			1772			Calx-beta.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.5316G>T	CCDS47952.1																																																																																				PASS	0.353	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		21	47	21	47	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630258	32630258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:32630258C>A	ENST00000242310.4	-	1	5409	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1774					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.E1774*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGCATCTTCCTCATCATCT	0.453																																						uc003zrg.1																			1	Substitution - Nonsense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(5320-5322)GAA>TAA		TBP-associated factor RNA polymerase 1-like							281.0	240.0	254.0					9																	32630258		2203	4300	6503	SO:0001587	stop_gained	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630258C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5320G>T	9.37:g.32630258C>A	ENSP00000418379:p.Glu1774*						p.E1774*	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5410	-			1774					Q0VG57	Nonsense_Mutation	SNP	ENST00000242310.4	37	c.5320G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	43	9.866971	0.99283	.	.	ENSG00000122728	ENST00000242310	.	.	.	1.16	1.16	0.20824	.	0.084546	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	8.1579	0.31180	0.0:1.0:0.0:0.0	.	.	.	.	X	1774	.	ENSP00000418379:E1774X	E	-	1	0	TAF1L	32620258	1.000000	0.71417	0.996000	0.52242	0.336000	0.28762	1.666000	0.37460	0.507000	0.28148	0.195000	0.17529	GAA		PASS	0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			22	63	22	63	---	---	---	---
C9orf24	84688	broad.mit.edu	37	9	34382827	34382827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:34382827G>T	ENST00000297623.2	-	3	519	c.321C>A	c.(319-321)taC>taA	p.Y107*	C9orf24_ENST00000379124.1_5'Flank|C9orf24_ENST00000379126.3_5'Flank|C9orf24_ENST00000379127.1_5'Flank|C9orf24_ENST00000379133.3_5'Flank	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	107					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Y107*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCCATGTGTTGTACCAGTCAC	0.493																																						uc003zuh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(319-321)TAC>TAA		testes development-related NYD-SP22 isoform 1							319.0	262.0	281.0					9																	34382827		2203	4300	6503	SO:0001587	stop_gained	84688							g.chr9:34382827G>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.321C>A	9.37:g.34382827G>T	ENSP00000297623:p.Tyr107*					C9orf24_uc003zug.1_5'Flank|C9orf24_uc003zuf.1_5'Flank|C9orf24_uc003zui.1_5'Flank	p.Y107*	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	3	539	-			107					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Nonsense_Mutation	SNP	ENST00000297623.2	37	c.321C>A	CCDS6554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.89|10.89	1.477451|1.477451	0.26511|0.26511	.|.	.|.	ENSG00000164972|ENSG00000164972	ENST00000444429|ENST00000297623	.|.	.|.	.|.	5.69|5.69	0.689|0.689	0.18033|0.18033	.|.	.|0.335923	.|0.25860	.|N	.|0.027822	T|.	0.14098|.	0.0341|.	.|.	.|.	.|.	0.19300|0.19300	N|N	0.999974|0.999974	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33059|.	-0.9883|.	4|.	.|0.02654	.|T	.|1	-4.1621|-4.1621	11.5803|11.5803	0.50887|0.50887	0.2494:0.0:0.7506:0.0|0.2494:0.0:0.7506:0.0	.|.	.|.	.|.	.|.	K|X	73|107	.|.	.|ENSP00000297623:Y107X	Q|Y	-|-	1|3	0|2	C9orf24|C9orf24	34372827|34372827	0.047000|0.047000	0.20315|0.20315	0.117000|0.117000	0.21633|0.21633	0.717000|0.717000	0.41224|0.41224	0.472000|0.472000	0.22116|0.22116	0.205000|0.205000	0.20568|0.20568	0.655000|0.655000	0.94253|0.94253	CAA|TAC		PASS	0.493	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		40	62	40	62	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78804654	78804654	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:78804654G>T	ENST00000545128.1	+	20	3156	c.2618G>T	c.(2617-2619)tGc>tTc	p.C873F	PCSK5_ENST00000376752.4_Missense_Mutation_p.C873F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	873	CRM (Cys-rich motif).|PLAC.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.C873F(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGCCATTTGCAAGGATGGT	0.403																																						uc004ajz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2617-2619)TGC>TTC		proprotein convertase subtilisin/kexin type 5							120.0	111.0	114.0					9																	78804654		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78804654G>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2618G>T	9.37:g.78804654G>T	ENSP00000446280:p.Cys873Phe					PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_Missense_Mutation_p.C147F	p.C873F	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			20	3156	+			873			PLAC.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2618G>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390800	0.62066	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854;ENST00000455778	T;D;T;T	0.95690	0.46;-3.78;0.46;2.58	5.88	5.88	0.94601	PLAC (2);	0.057420	0.85682	D	0.000000	D	0.97663	0.9234	M	0.87269	2.87	0.80722	D	1	D;P	0.57257	0.979;0.889	P;P	0.57283	0.817;0.476	D	0.97972	1.0344	10	0.87932	D	0	-22.6764	19.8332	0.96644	0.0:0.0:1.0:0.0	.	873;873	Q92824;Q92824-2	PCSK5_HUMAN;.	F	873;576;873;546;92	ENSP00000446280:C873F;ENSP00000365943:C873F;ENSP00000411654:C546F;ENSP00000407239:C92F	ENSP00000365943:C873F	C	+	2	0	PCSK5	77994474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.622000	0.90953	2.789000	0.95967	0.655000	0.94253	TGC		PASS	0.403	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	17	9	17	---	---	---	---
GNAQ	2776	broad.mit.edu	37	9	80537167	80537167	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:80537167C>T	ENST00000286548.4	-	2	453	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	77					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.K77K(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GATACACCAGCTTGGTGAAGC	0.473			Mis		uveal melanoma																																	uc004akw.2				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		1	Substitution - coding silent(1)		lung(1)	eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						c.(229-231)AAG>AAA		guanine nucleotide binding protein (G protein),							244.0	209.0	221.0					9																	80537167		2203	4300	6503	SO:0001819	synonymous_variant	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537167C>T		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.231G>A	9.37:g.80537167C>T							p.K77K	NM_002072	NP_002063	P50148	GNAQ_HUMAN			2	272	-			77					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	ENST00000286548.4	37	c.231G>A	CCDS6658.1																																																																																				PASS	0.473	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		38	81	38	81	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90503468	90503468	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:90503468C>A	ENST00000325643.5	+	4	4132	c.4066C>A	c.(4066-4068)Cct>Act	p.P1356T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1356					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P1356T(1)									GGAGAATGTGCCTTCCTGCTG	0.602																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4066-4068)CCT>ACT		chromosome 9 open reading frame 79							82.0	73.0	76.0					9																	90503468		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90503468C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.4066C>A	9.37:g.90503468C>A	ENSP00000322640:p.Pro1356Thr						p.P1356T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	4101	+			1356					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.4066C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.742821	0.00675	.	.	ENSG00000177992	ENST00000325643	T	0.03468	3.92	2.17	-4.34	0.03666	.	4.124060	0.00447	N	0.000087	T	0.02494	0.0076	N	0.22421	0.69	0.09310	N	1	B	0.29432	0.244	B	0.28465	0.09	T	0.36114	-0.9761	10	0.20046	T	0.44	.	0.8436	0.01155	0.2666:0.1616:0.1334:0.4385	.	1356	Q6ZUB1	CI079_HUMAN	T	1356	ENSP00000322640:P1356T	ENSP00000322640:P1356T	P	+	1	0	C9orf79	89693288	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.026000	0.13599	-2.639000	0.00430	-1.475000	0.01000	CCT		PASS	0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		5	27	5	27	---	---	---	---
RP13-60M5.2	0	broad.mit.edu	37	9	91262379	91262379	+	lincRNA	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:91262379C>A	ENST00000418343.2	-	0	372																											CACAGGGAAGCATGTCCCGTG	0.433																																						uc010mql.1																			0					0						c.(262-264)ATG>ATT		hypothetical protein LOC286238							98.0	100.0	99.0					9																	91262379		1948	4149	6097			286238							g.chr9:91262379C>A																													9.37:g.91262379C>A							p.M88I	NM_001100111	NP_001093581					2	397	-									Missense_Mutation	SNP	ENST00000418343.2	37	c.264G>T																																																																																					PASS	0.433	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2			18	61	18	61	---	---	---	---
GABBR2	9568	broad.mit.edu	37	9	101065634	101065634	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:101065634C>A	ENST00000259455.2	-	16	2760	c.2301G>T	c.(2299-2301)aaG>aaT	p.K767N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	767					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.K767N(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AATCTTCTTTCTTCTGATTCT	0.527																																						uc004ays.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2299-2301)AAG>AAT		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						162.0	149.0	153.0					9																	101065634		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101065634C>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2301G>T	9.37:g.101065634C>A	ENSP00000259455:p.Lys767Asn						p.K767N	NM_005458	NP_005449	O75899	GABR2_HUMAN			16	2457	-		Acute lymphoblastic leukemia(62;0.0527)	767			Cytoplasmic (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.2301G>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664148	0.47572	.	.	ENSG00000136928	ENST00000259455	T	0.79141	-1.24	5.74	4.85	0.62838	.	0.040777	0.85682	D	0.000000	T	0.63022	0.2476	N	0.08118	0	0.80722	D	1	P	0.48162	0.906	P	0.46585	0.521	T	0.61700	-0.7009	10	0.20046	T	0.44	.	12.5129	0.56015	0.0:0.9194:0.0:0.0806	.	767	O75899	GABR2_HUMAN	N	767	ENSP00000259455:K767N	ENSP00000259455:K767N	K	-	3	2	GABBR2	100105455	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.034000	0.57289	1.442000	0.47568	0.505000	0.49811	AAG		PASS	0.527	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			17	33	17	33	---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	112030678	112030678	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:112030678C>T	ENST00000374566.3	-	3	964	c.447G>A	c.(445-447)caG>caA	p.Q149Q	EPB41L4B_ENST00000374557.4_Silent_p.Q149Q|AL358815.1_ENST00000578641.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	149	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.Q149Q(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACTTTTCATCTGCTTTTTTA	0.353																																						uc004bdz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(445-447)CAG>CAA		erythrocyte membrane protein band 4.1 like 4B							116.0	113.0	114.0					9																	112030678		1818	4079	5897	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112030678C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.447G>A	9.37:g.112030678C>T						EPB41L4B_uc004bea.2_Silent_p.Q149Q	p.Q149Q	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			3	742	-			149			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.447G>A	CCDS43859.1																																																																																				PASS	0.353	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		4	26	4	26	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113251936	113251936	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:113251936C>G	ENST00000401783.2	-	9	2260	c.1924G>C	c.(1924-1926)Gtt>Ctt	p.V642L	SVEP1_ENST00000374469.1_Missense_Mutation_p.V619L|SVEP1_ENST00000374461.1_Missense_Mutation_p.V619L|SVEP1_ENST00000302728.8_Missense_Mutation_p.V642L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	642	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.V642L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTACCAATAACCTTGATATGG	0.473																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(1924-1926)GTT>CTT		polydom							92.0	89.0	90.0					9																	113251936		1940	4149	6089	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113251936C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1924G>C	9.37:g.113251936C>G	ENSP00000384917:p.Val642Leu					SVEP1_uc010mua.1_Missense_Mutation_p.V642L|SVEP1_uc004beu.2_Missense_Mutation_p.V642L	p.V642L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			9	2261	-			642			HYR 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1924G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552331	0.65311	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.04	5.04	0.67666	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.92077	3.27	0.42985	D	0.994479	D;D;D	0.89917	0.997;1.0;0.996	D;D;D	0.85130	0.992;0.997;0.99	T	0.79369	-0.1832	10	0.72032	D	0.01	.	18.3623	0.90379	0.0:1.0:0.0:0.0	.	642;642;642	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	L	642;619;642;619	ENSP00000384917:V642L;ENSP00000363593:V619L;ENSP00000304118:V642L;ENSP00000363585:V619L	ENSP00000304118:V642L	V	-	1	0	SVEP1	112291757	1.000000	0.71417	0.539000	0.28077	0.132000	0.20833	7.294000	0.78760	2.350000	0.79820	0.557000	0.71058	GTT		PASS	0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	25	4	25	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117020846	117020846	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:117020846C>A	ENST00000356083.3	+	28	3558	c.3167C>A	c.(3166-3168)cCa>cAa	p.P1056Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1056	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1056Q(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGAGGCCCACCAGGCATGAGG	0.627																																						uc011lxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3166-3168)CCA>CAA		collagen, type XXVII, alpha 1 precursor							48.0	45.0	46.0					9																	117020846		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117020846C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3167C>A	9.37:g.117020846C>A	ENSP00000348385:p.Pro1056Gln					COL27A1_uc004bii.2_RNA	p.P1056Q	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			28	3167	+			1056			Pro-rich.|Collagen-like 7.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3167C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528353	0.64860	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96716	-4.1	5.24	2.2	0.27929	.	.	.	.	.	D	0.90225	0.6944	N	0.21448	0.665	0.33340	D	0.56969	B	0.16802	0.019	B	0.12156	0.007	D	0.86872	0.2036	9	0.29301	T	0.29	.	5.4937	0.16791	0.1614:0.6568:0.0:0.1817	.	1056	Q8IZC6	CORA1_HUMAN	Q	1056	ENSP00000348385:P1056Q	ENSP00000348385:P1056Q	P	+	2	0	COL27A1	116060667	0.889000	0.30405	0.996000	0.52242	0.983000	0.72400	1.311000	0.33562	1.189000	0.43028	0.462000	0.41574	CCA		PASS	0.627	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		6	17	6	17	---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551984	125551984	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:125551984C>A	ENST00000373680.2	+	1	835	c.773C>A	c.(772-774)aCa>aAa	p.T258K		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T258K(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATGTACGGGACACTCATTTTC	0.602																																						uc011lzd.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(772-774)ACA>AAA		olfactory receptor, family 5, subfamily C,							100.0	82.0	88.0					9																	125551984		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551984C>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.773C>A	9.37:g.125551984C>A	ENSP00000362784:p.Thr258Lys						p.T258K	NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN			1	773	+			258			Helical; Name=6; (Potential).		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.773C>A	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820056	0.71028	.	.	ENSG00000148215	ENST00000373680	T	0.00287	8.29	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	U	0.002075	T	0.01353	0.0044	H	0.98005	4.125	0.45097	D	0.998118	D	0.71674	0.998	D	0.67900	0.954	T	0.30387	-0.9980	10	0.87932	D	0	.	18.0684	0.89398	0.0:1.0:0.0:0.0	.	258	Q8NGR4	OR5C1_HUMAN	K	258	ENSP00000362784:T258K	ENSP00000362784:T258K	T	+	2	0	OR5C1	124591805	0.002000	0.14202	0.872000	0.34217	0.412000	0.31113	1.440000	0.35024	2.798000	0.96311	0.655000	0.94253	ACA		PASS	0.602	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			11	48	11	48	---	---	---	---
PBX3	5090	broad.mit.edu	37	9	128510846	128510846	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:128510846G>T	ENST00000373489.5	+	2	234	c.218G>T	c.(217-219)tGt>tTt	p.C73F	PBX3_ENST00000373487.4_Missense_Mutation_p.C73F|PBX3_ENST00000342287.5_Missense_Mutation_p.C73F|PBX3_ENST00000447726.2_5'UTR|RP11-423C15.3_ENST00000606827.1_lincRNA|PBX3_ENST00000373483.2_5'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	73					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C73F(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GCCCTGAACTGTCACAGAATG	0.478																																						uc004bqb.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(217-219)TGT>TTT		pre-B-cell leukemia homeobox 3 isoform 1							172.0	164.0	167.0					9																	128510846		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128510846G>T		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.218G>T	9.37:g.128510846G>T	ENSP00000362588:p.Cys73Phe					PBX3_uc004bqc.2_5'UTR|PBX3_uc004bqd.2_5'UTR|PBX3_uc011lzw.1_5'UTR	p.C73F	NM_006195	NP_006186	P40426	PBX3_HUMAN			2	334	+			73					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.218G>T	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183538	0.78677	.	.	ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487	T;T;T	0.30714	1.52;1.52;1.52	5.2	5.2	0.72013	PBX (1);	0.104892	0.64402	D	0.000003	T	0.59404	0.2191	M	0.82923	2.615	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.61623	-0.7025	10	0.49607	T	0.09	.	17.727	0.88368	0.0:0.0:1.0:0.0	.	73	P40426	PBX3_HUMAN	F	73	ENSP00000362588:C73F;ENSP00000341990:C73F;ENSP00000362586:C73F	ENSP00000341990:C73F	C	+	2	0	PBX3	127550667	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.891000	0.92485	2.714000	0.92807	0.650000	0.86243	TGT		PASS	0.478	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			20	102	20	102	---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130217333	130217333	+	Splice_Site	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:130217333G>T	ENST00000323301.4	+	3	733	c.129G>T	c.(127-129)gaG>gaT	p.E43D	LRSAM1_ENST00000300417.6_Splice_Site_p.E43D|LRSAM1_ENST00000373322.1_Splice_Site_p.E43D|LRSAM1_ENST00000373324.4_Splice_Site_p.E43D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	43					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E43D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGCTCTCAGAGGTAAACTGAG	0.423																																						uc004brb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GAG>GAT		leucine rich repeat and sterile alpha motif							187.0	182.0	184.0					9																	130217333		2203	4300	6503	SO:0001630	splice_region_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130217333G>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.129+1G>T	9.37:g.130217333G>T						LRSAM1_uc010mxk.1_Missense_Mutation_p.E43D|LRSAM1_uc004brc.1_Missense_Mutation_p.E43D|LRSAM1_uc004brd.1_Missense_Mutation_p.E43D	p.E43D	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			4	474	+			43			LRR 1.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.129G>T	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636415	0.87760	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.46	5.46	0.80206	.	0.113287	0.64402	D	0.000005	T	0.56171	0.1967	L	0.31664	0.95	0.58432	D	0.999992	D;D	0.64830	0.992;0.994	P;D	0.70716	0.716;0.97	T	0.55692	-0.8101	10	0.48119	T	0.1	-25.2969	14.7934	0.69860	0.0:0.0:1.0:0.0	.	43;43	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	43	ENSP00000300417:E43D;ENSP00000362421:E43D;ENSP00000322937:E43D;ENSP00000362419:E43D	ENSP00000300417:E43D	E	+	3	2	LRSAM1	129257154	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.430000	0.80321	2.557000	0.86248	0.655000	0.94253	GAG		PASS	0.423	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361	Missense_Mutation	4	128	4	128	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133962940	133962940	+	Silent	SNP	G	G	T	rs201023030		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:133962940G>T	ENST00000361069.4	+	26	4441	c.4308G>T	c.(4306-4308)acG>acT	p.T1436T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1436	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.T1436T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCAAGCCACGCTCCAACAGG	0.657																																						uc004caa.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4306-4308)ACG>ACT		laminin, gamma 3 precursor							70.0	76.0	74.0					9																	133962940		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133962940G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4308G>T	9.37:g.133962940G>T						LAMC3_uc010mze.1_Silent_p.T124T	p.T1436T	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	26	4406	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1436			Domain II and I.|Potential.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.4308G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	1.684	-0.505779	0.04261	.	.	ENSG00000050555	ENST00000355452	.	.	.	4.74	-6.65	0.01795	.	.	.	.	.	T	0.16085	0.0387	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	.	1.8038	0.03076	0.1711:0.3804:0.1393:0.3093	.	.	.	.	L	118	.	.	R	+	2	0	LAMC3	132952761	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-3.137000	0.00588	-0.765000	0.04645	0.563000	0.77884	CGC		PASS	0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		8	65	8	65	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134015981	134015981	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:134015981C>T	ENST00000359428.5	+	11	1322	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S393L|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S393L|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	393	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.S393L(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATGTTACTTTCAACAGATGGT	0.378			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(1177-1179)TCA>TTA		nucleoporin 214kDa							135.0	136.0	135.0					9																	134015981		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134015981C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1178C>T	9.37:g.134015981C>T	ENSP00000352400:p.Ser393Leu					NUP214_uc004cah.2_Missense_Mutation_p.S393L|NUP214_uc004caf.1_Missense_Mutation_p.S393L	p.S393L	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	11	1289	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	393					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1178C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452531	0.96223	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.98437	-4.93;-4.93;-4.93	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.34200	N	0.004171	D	0.98868	0.9617	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99858	1.1080	10	0.72032	D	0.01	-28.8384	18.9619	0.92680	0.0:1.0:0.0:0.0	.	393;393	P35658-4;P35658	.;NU214_HUMAN	L	393	ENSP00000352400:S393L;ENSP00000396576:S393L;ENSP00000405014:S393L	ENSP00000352400:S393L	S	+	2	0	NUP214	133005802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.517000	0.73759	2.732000	0.93576	0.655000	0.94253	TCA		PASS	0.378	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		6	104	6	104	---	---	---	---
C9orf171	389799	broad.mit.edu	37	9	135447886	135447886	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:135447886A>G	ENST00000343036.2	+	7	1000	c.952A>G	c.(952-954)Acc>Gcc	p.T318A	C9orf171_ENST00000393216.2_Missense_Mutation_p.T282A	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	318								p.T318A(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGGCAACTACACCCACCCCTA	0.597																																						uc004cbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(952-954)ACC>GCC		hypothetical protein LOC389799							32.0	34.0	33.0					9																	135447886		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135447886A>G	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.952A>G	9.37:g.135447886A>G	ENSP00000343290:p.Thr318Ala					C9orf171_uc004cbo.2_Missense_Mutation_p.T282A	p.T318A	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			7	1000	+			318					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.952A>G	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992036	0.54041	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.27890	1.7;1.64	5.4	5.4	0.78164	.	0.137895	0.45361	D	0.000380	T	0.25457	0.0619	L	0.33485	1.01	0.31183	N	0.701861	P;P	0.46912	0.732;0.886	B;B	0.41988	0.372;0.372	T	0.26950	-1.0088	10	0.51188	T	0.08	.	11.8141	0.52199	1.0:0.0:0.0:0.0	.	282;318	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	A	318;282	ENSP00000343290:T318A;ENSP00000376909:T282A	ENSP00000343290:T318A	T	+	1	0	C9orf171	134437707	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.641000	0.61375	2.060000	0.61445	0.363000	0.22086	ACC		PASS	0.597	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		5	7	5	7	---	---	---	---
SDCCAG3	10807	broad.mit.edu	37	9	139301958	139301958	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:139301958C>A	ENST00000357365.3	-	5	587	c.458G>T	c.(457-459)gGc>gTc	p.G153V	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.G80V|SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.G130V	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	153						cytoplasm (GO:0005737)		p.G153V(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GCCATACCCGCCGGTTTGGGA	0.532																																						uc004chi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)GGC>GTC		serologically defined colon cancer antigen 3							24.0	29.0	28.0					9																	139301958		1864	4100	5964	SO:0001583	missense	10807					cytoplasm		g.chr9:139301958C>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.458G>T	9.37:g.139301958C>A	ENSP00000349929:p.Gly153Val					SDCCAG3_uc004chj.2_Missense_Mutation_p.G130V|SDCCAG3_uc004chk.2_Missense_Mutation_p.G80V	p.G153V	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	5	663	-		Myeloproliferative disorder(178;0.0511)	153					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.458G>T	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	C	1.492	-0.554486	0.03996	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.27890	2.66;2.64;2.65;1.64	4.95	-0.139	0.13460	.	1.395180	0.04117	N	0.315624	T	0.13543	0.0328	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18967	-1.0320	10	0.29301	T	0.29	-21.4075	4.4968	0.11840	0.4579:0.355:0.1871:0.0	.	80;130;153	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	V	153;130;80;103	ENSP00000349929:G153V;ENSP00000298537:G130V;ENSP00000360790:G80V;ENSP00000360788:G103V	ENSP00000298537:G130V	G	-	2	0	SDCCAG3	138421779	0.000000	0.05858	0.018000	0.16275	0.010000	0.07245	0.114000	0.15520	0.018000	0.15052	-0.271000	0.10264	GGC		PASS	0.532	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		3	13	3	13	---	---	---	---
LCN8	138307	broad.mit.edu	37	9	139649901	139649901	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:139649901C>T	ENST00000371688.3	-	4	589	c.294G>A	c.(292-294)atG>atA	p.M98I	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	121					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)		p.M98I(1)		endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		TGCCCCGCCACATCAGGGACA	0.652																																						uc004cjb.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(292-294)ATG>ATA		lipocalin 8							45.0	38.0	40.0					9																	139649901		2202	4300	6502	SO:0001583	missense	138307				transport	extracellular region	binding	g.chr9:139649901C>T	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.294G>A	9.37:g.139649901C>T	ENSP00000360753:p.Met98Ile					LCN8_uc004cja.2_RNA	p.M98I	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	4	643	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	121					A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	c.294G>A	CCDS35183.1	.	.	.	.	.	.	.	.	.	.	C	3.223	-0.159058	0.06544	.	.	ENSG00000204001	ENST00000371688	T	0.07216	3.21	3.62	-4.33	0.03677	.	.	.	.	.	T	0.05640	0.0148	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.39210	-0.9625	9	0.28530	T	0.3	.	12.1569	0.54083	0.0:0.6774:0.1945:0.1281	.	98	Q6JVE9-2	.	I	98	ENSP00000360753:M98I	ENSP00000360753:M98I	M	-	3	0	LCN8	138769722	0.001000	0.12720	0.002000	0.10522	0.425000	0.31504	-0.858000	0.04281	-0.882000	0.03987	-0.479000	0.04858	ATG		PASS	0.652	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469		3	12	3	12	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140611315	140611315	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr9:140611315A>T	ENST00000460843.1	+	3	350	c.323A>T	c.(322-324)cAc>cTc	p.H108L	EHMT1_ENST00000462484.1_Missense_Mutation_p.H108L|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.H77L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	108					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.H108L(1)|p.H77L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGCAAAACCACGTCACTGCC	0.542																																						uc011mfc.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(1)	3						c.(322-324)CAC>CTC		euchromatic histone-lysine N-methyltransferase 1							118.0	121.0	120.0					9																	140611315		2202	4300	6502	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611315A>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.323A>T	9.37:g.140611315A>T	ENSP00000417980:p.His108Leu					EHMT1_uc004coa.2_Missense_Mutation_p.H108L|EHMT1_uc004cob.1_Missense_Mutation_p.H77L	p.H108L	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	360	+	all_cancers(76;0.164)		108					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.323A>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	a	11.91	1.779419	0.31502	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.69561	1.67;0.9;-0.41	5.87	3.33	0.38152	.	0.311760	0.31404	N	0.007705	T	0.62060	0.2397	L	0.57536	1.79	0.29900	N	0.824514	P;P;P	0.43352	0.704;0.804;0.804	B;B;B	0.43018	0.122;0.242;0.405	T	0.59016	-0.7533	10	0.16896	T	0.51	.	12.4268	0.55551	0.5991:0.4009:0.0:0.0	.	108;77;108	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	L	77;77;108;108	ENSP00000334476:H77L;ENSP00000417328:H108L;ENSP00000417980:H108L	ENSP00000334476:H77L	H	+	2	0	EHMT1	139731136	0.977000	0.34250	0.774000	0.31636	0.168000	0.22595	2.485000	0.45250	1.013000	0.39391	0.446000	0.29264	CAC		PASS	0.542	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		12	63	12	63	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21903765	21903765	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:21903765A>T	ENST00000307729.7	+	7	693	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	MLLT10_ENST00000377059.3_Missense_Mutation_p.Q172L|MLLT10_ENST00000446906.2_Missense_Mutation_p.Q172L|MLLT10_ENST00000377072.3_Missense_Mutation_p.Q172L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	172	Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q172L(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTCAGCGCTCAGTTTGCCGGA	0.338			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(514-516)CAG>CTG		myeloid/lymphoid or mixed-lineage leukemia							128.0	127.0	127.0					10																	21903765		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21903765A>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.515A>T	10.37:g.21903765A>T	ENSP00000307411:p.Gln172Leu					MLLT10_uc001iqt.2_Missense_Mutation_p.Q172L|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.Q172L|MLLT10_uc001ira.2_5'Flank|MLLT10_uc001iqz.2_5'UTR	p.Q172L	NM_004641	NP_004632	P55197	AF10_HUMAN			7	863	+			172			Interaction with FSTL3.|Self-association.|PHD-type 2.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.515A>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653945	0.88056	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.3	5.3	0.74995	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	L	0.58354	1.805	0.80722	D	1	P;D;D	0.55605	0.952;0.969;0.972	P;D;P	0.70227	0.692;0.968;0.808	T	0.02901	-1.1096	10	0.72032	D	0.01	.	13.81	0.63256	1.0:0.0:0.0:0.0	.	172;172;172	E9PBP4;Q5VX90;P55197	.;.;AF10_HUMAN	L	172;172;172;18;172	ENSP00000366272:Q172L;ENSP00000401406:Q172L;ENSP00000307411:Q172L;ENSP00000366258:Q172L	ENSP00000307411:Q172L	Q	+	2	0	MLLT10	21943771	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.108000	0.94275	2.006000	0.58801	0.460000	0.39030	CAG		PASS	0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			21	53	21	53	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26463077	26463077	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:26463077A>G	ENST00000265944.5	+	30	4050	c.3884A>G	c.(3883-3885)tAt>tGt	p.Y1295C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1295					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y1295C(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGTCAATTTATCAAAATGCA	0.448																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3883-3885)TAT>TGT		myosin IIIA							73.0	79.0	77.0					10																	26463077		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463077A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3884A>G	10.37:g.26463077A>G	ENSP00000265944:p.Tyr1295Cys					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.Y1295C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4244	+			1295					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3884A>G	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	7.954	0.745517	0.15710	.	.	ENSG00000095777	ENST00000265944	T	0.77489	-1.1	5.1	-0.277	0.12898	.	1.543720	0.03298	N	0.188613	T	0.60894	0.2304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49457	-0.8938	10	0.38643	T	0.18	.	9.0783	0.36536	0.4449:0.4834:0.0717:0.0	.	1295	Q8NEV4	MYO3A_HUMAN	C	1295	ENSP00000265944:Y1295C	ENSP00000265944:Y1295C	Y	+	2	0	MYO3A	26503083	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	0.057000	0.14279	-0.194000	0.10399	0.460000	0.39030	TAT		PASS	0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		19	53	19	53	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28224093	28224093	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:28224093C>T	ENST00000305242.5	-	16	2433	c.2341G>A	c.(2341-2343)Gga>Aga	p.G781R	ARMC4_ENST00000545014.1_Missense_Mutation_p.G306R|ARMC4_ENST00000537576.1_Missense_Mutation_p.G473R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	781					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.G781R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGCATTCTCCCAAGGCCCCA	0.458																																						uc009xky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2341-2343)GGA>AGA		armadillo repeat containing 4							158.0	151.0	153.0					10																	28224093		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28224093C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2341G>A	10.37:g.28224093C>T	ENSP00000306410:p.Gly781Arg					ARMC4_uc010qds.1_Missense_Mutation_p.G306R|ARMC4_uc010qdt.1_Missense_Mutation_p.G473R|ARMC4_uc001itz.2_Missense_Mutation_p.G781R	p.G781R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			16	2439	-			781			ARM 5.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2341G>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883762	0.91814	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.42513	0.97;0.97;0.97	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);	0.202491	0.51477	D	0.000083	T	0.61502	0.2352	L	0.52905	1.665	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.79108	0.944;0.992	T	0.50767	-0.8789	10	0.27082	T	0.32	-33.0491	20.3206	0.98668	0.0:1.0:0.0:0.0	.	306;781	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	R	473;781;306	ENSP00000443208:G473R;ENSP00000306410:G781R;ENSP00000441076:G306R	ENSP00000306410:G781R	G	-	1	0	ARMC4	28264099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.021000	0.70832	2.809000	0.96659	0.655000	0.94253	GGA		PASS	0.458	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		28	61	28	61	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31138162	31138162	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:31138162T>C	ENST00000361310.3	-	6	1501	c.1172A>G	c.(1171-1173)gAt>gGt	p.D391G	ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000442986.1_Missense_Mutation_p.D391G|ZNF438_ENST00000413025.1_Missense_Mutation_p.D391G|ZNF438_ENST00000452305.1_Missense_Mutation_p.D381G|ZNF438_ENST00000331737.6_Missense_Mutation_p.D381G|ZNF438_ENST00000538351.2_Missense_Mutation_p.D342G|ZNF438_ENST00000436087.2_Missense_Mutation_p.D391G|ZNF438_ENST00000444692.2_Missense_Mutation_p.D381G			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	391					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D391G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CAAAATTTCATCTGGTACCTT	0.373																																						uc010qdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1171-1173)GAT>GGT		zinc finger protein 438 isoform a							102.0	100.0	100.0					10																	31138162		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138162T>C	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1172A>G	10.37:g.31138162T>C	ENSP00000354663:p.Asp391Gly					ZNF438_uc001ivn.2_Missense_Mutation_p.D342G|ZNF438_uc010qdy.1_Missense_Mutation_p.D381G|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.D391G|ZNF438_uc001ivp.3_Missense_Mutation_p.D381G|ZNF438_uc010qea.1_Missense_Mutation_p.D391G|ZNF438_uc010qeb.1_Missense_Mutation_p.D391G|ZNF438_uc010qec.1_5'UTR	p.D391G	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	1607	-		Prostate(175;0.0587)	391					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.1172A>G	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250585	0.59212	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.73	5.73	0.89815	.	0.394849	0.33005	N	0.005397	T	0.26195	0.0639	L	0.55103	1.725	0.48511	D	0.99966	D;D	0.67145	0.993;0.996	P;P	0.59948	0.738;0.866	T	0.00992	-1.1488	10	0.46703	T	0.11	-10.644	9.6551	0.39921	0.0:0.0775:0.0:0.9225	.	391;381	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	G	381;391;391;391;391;381;381;342;110	ENSP00000333571:D381G;ENSP00000354663:D391G;ENSP00000406934:D391G;ENSP00000412363:D391G;ENSP00000387546:D391G;ENSP00000413060:D381G;ENSP00000410898:D381G;ENSP00000445461:D342G	ENSP00000333571:D381G	D	-	2	0	ZNF438	31178168	1.000000	0.71417	0.464000	0.27143	0.488000	0.33401	5.467000	0.66737	2.186000	0.69663	0.528000	0.53228	GAT		PASS	0.373	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		29	101	29	101	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38305892	38305892	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:38305892G>A	ENST00000458705.2	+	3	261	c.103G>A	c.(103-105)Gct>Act	p.A35T	ZNF33A_ENST00000432900.2_Missense_Mutation_p.A42T|ZNF33A_ENST00000307441.9_Missense_Mutation_p.A35T|ZNF33A_ENST00000469037.2_Missense_Mutation_p.A35T|ZNF33A_ENST00000374618.3_Missense_Mutation_p.A35T|ZNF33A_ENST00000476504.1_3'UTR			Q06730	ZN33A_HUMAN	zinc finger protein 33A	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A35T(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TAGTCAGAGGGCTCTGTATAG	0.453																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(103-105)GCT>ACT		zinc finger protein 33A isoform b							76.0	76.0	76.0					10																	38305892		2203	4295	6498	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38305892G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.103G>A	10.37:g.38305892G>A	ENSP00000387713:p.Ala35Thr					ZNF33A_uc001izg.2_Missense_Mutation_p.A35T|ZNF33A_uc010qev.1_Missense_Mutation_p.A42T|ZNF33A_uc001izi.1_Missense_Mutation_p.A35T|ZNF33A_uc001izj.2_RNA	p.A35T	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			3	281	+			35			KRAB.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.103G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671585	0.14776	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	3.64	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.16769	0.0403	N	0.04768	-0.165	0.09310	N	1	B;B;B;B	0.28291	0.206;0.005;0.032;0.003	B;B;B;B	0.28305	0.088;0.005;0.015;0.001	T	0.27706	-1.0066	9	0.02654	T	1	.	7.5348	0.27704	0.0:0.0:0.4793:0.5207	.	42;35;35;35	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	T	35;42;35;35;35	ENSP00000363747:A35T;ENSP00000402467:A42T;ENSP00000387713:A35T;ENSP00000304268:A35T	ENSP00000277672:A35T	A	+	1	0	ZNF33A	38345898	0.007000	0.16637	0.158000	0.22627	0.697000	0.40408	0.057000	0.14279	0.594000	0.29761	-0.521000	0.04368	GCT		PASS	0.453	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		23	52	23	52	---	---	---	---
MBL2	4153	broad.mit.edu	37	10	54529061	54529061	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:54529061G>T	ENST00000373968.3	-	3	383	c.319C>A	c.(319-321)Ctg>Atg	p.L107M		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	107					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)	p.L107M(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAGGCAGCCAGGCTACTATCA	0.403																																						uc001jjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)CTG>ATG		soluble mannose-binding lectin precursor							121.0	127.0	125.0					10																	54529061		2202	4300	6502	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54529061G>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.319C>A	10.37:g.54529061G>T	ENSP00000363079:p.Leu107Met						p.L107M	NM_000242	NP_000233	P11226	MBL2_HUMAN			3	384	-			107					Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.319C>A	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296635	0.23650	.	.	ENSG00000165471	ENST00000373968	D	0.87887	-2.31	4.17	-1.06	0.10002	.	1.496920	0.04087	N	0.310594	T	0.82121	0.4968	M	0.72353	2.195	0.09310	N	1	P	0.39920	0.695	B	0.32677	0.15	T	0.67440	-0.5670	10	0.45353	T	0.12	2.5066	2.0613	0.03592	0.105:0.3733:0.2443:0.2774	.	107	P11226	MBL2_HUMAN	M	107	ENSP00000363079:L107M	ENSP00000363079:L107M	L	-	1	2	MBL2	54199067	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.572000	0.05881	-0.196000	0.10366	0.655000	0.94253	CTG		PASS	0.403	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		15	85	15	85	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582009	55582009	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:55582009G>A	ENST00000320301.6	-	33	5871	c.5477C>T	c.(5476-5478)cCt>cTt	p.P1826L	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1757L|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1823L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1828L|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1803L|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1786L|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1826	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1826L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				tggagggcaaggaatagaagg	0.478										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5476-5478)CCT>CTT		protocadherin 15 isoform CD1-4 precursor							114.0	103.0	107.0					10																	55582009		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582009G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5477C>T	10.37:g.55582009G>A	ENSP00000322604:p.Pro1826Leu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1823L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1786L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1757L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1833L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1828L|PCDH15_uc010qia.1_Missense_Mutation_p.P1806L|PCDH15_uc010qib.1_Missense_Mutation_p.P1803L	p.P1826L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5872	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1826			Poly-Pro.|Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5477C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	6.090	0.384828	0.11524	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.60424	0.22;0.19;0.24;0.36;0.35;0.31	4.49	3.57	0.40892	.	.	.	.	.	T	0.32704	0.0838	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.002	T	0.25606	-1.0127	9	0.02654	T	1	.	7.6318	0.28243	0.2038:0.0:0.7961:0.0	.	1803;1826;1828;1833;1757;1786;1823;1826	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1786;1828;1803;1826;1823;1833;1757	ENSP00000378820:P1786L;ENSP00000354950:P1828L;ENSP00000378821:P1803L;ENSP00000322604:P1826L;ENSP00000378818:P1823L;ENSP00000412628:P1757L	ENSP00000322604:P1826L	P	-	2	0	PCDH15	55252015	0.065000	0.20965	0.008000	0.14137	0.786000	0.44442	1.573000	0.36472	1.016000	0.39470	0.591000	0.81541	CCT		PASS	0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		10	50	10	50	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55892716	55892716	+	Missense_Mutation	SNP	G	G	T	rs200226791		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:55892716G>T	ENST00000320301.6	-	15	2230	c.1836C>A	c.(1834-1836)agC>agA	p.S612R	PCDH15_ENST00000414778.1_Missense_Mutation_p.S617R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S223R|PCDH15_ENST00000373955.1_Missense_Mutation_p.S612R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.S612R|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S612R|PCDH15_ENST00000395438.1_Missense_Mutation_p.S612R|PCDH15_ENST00000395445.1_Missense_Mutation_p.S619R|PCDH15_ENST00000373965.2_Missense_Mutation_p.S619R|PCDH15_ENST00000373957.3_Missense_Mutation_p.S590R|PCDH15_ENST00000361849.3_Missense_Mutation_p.S612R|PCDH15_ENST00000395433.1_Missense_Mutation_p.S590R|PCDH15_ENST00000395432.2_Missense_Mutation_p.S575R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	612	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S617R(2)|p.S612R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCGAGGAGGGCTTTGATTAT	0.428										HNSCC(58;0.16)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		16855	0.0		0.0	False		,,,				2504	0.0					uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1834-1836)AGC>AGA		protocadherin 15 isoform CD1-4 precursor							132.0	116.0	121.0					10																	55892716		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55892716G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1836C>A	10.37:g.55892716G>T	ENSP00000322604:p.Ser612Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.S617R|PCDH15_uc010qhr.1_Missense_Mutation_p.S612R|PCDH15_uc010qhs.1_Missense_Mutation_p.S624R|PCDH15_uc010qht.1_Missense_Mutation_p.S619R|PCDH15_uc010qhu.1_Missense_Mutation_p.S612R|PCDH15_uc001jjv.1_Missense_Mutation_p.S590R|PCDH15_uc010qhv.1_Missense_Mutation_p.S612R|PCDH15_uc010qhw.1_Missense_Mutation_p.S575R|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.S617R|PCDH15_uc010qhz.1_Missense_Mutation_p.S612R|PCDH15_uc010qia.1_Missense_Mutation_p.S590R|PCDH15_uc010qib.1_Missense_Mutation_p.S590R|PCDH15_uc001jjw.2_Missense_Mutation_p.S612R	p.S612R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			15	2231	-		Melanoma(3;0.117)|Lung SC(717;0.238)	612			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1836C>A	CCDS7248.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.40	3.379278	0.61735	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;1.16;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.41	0.19	0.15125	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68274	0.2983	M	0.69463	2.115	0.80722	D	1	D;P;B;B;P;D;D;P;P;D;D;D;D;P	0.89917	0.998;0.931;0.402;0.402;0.855;0.998;0.998;0.768;0.589;0.999;0.999;1.0;0.999;0.855	D;P;B;B;P;D;D;P;B;D;D;D;D;P	0.83275	0.995;0.766;0.341;0.168;0.667;0.995;0.968;0.473;0.298;0.986;0.986;0.996;0.979;0.667	T	0.63892	-0.6534	9	0.39692	T	0.17	.	8.8065	0.34941	0.4201:0.0:0.5799:0.0	.	590;612;612;617;575;612;612;619;619;612;617;612;590;612	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	619;617;612;612;223;619;612;575;612;590;590;612;612;617;612	ENSP00000363076:S619R;ENSP00000410304:S617R;ENSP00000378826:S612R;ENSP00000386693:S223R;ENSP00000378832:S619R;ENSP00000378833:S612R;ENSP00000378820:S575R;ENSP00000354950:S612R;ENSP00000378821:S590R;ENSP00000363068:S590R;ENSP00000322604:S612R;ENSP00000378818:S612R;ENSP00000363066:S612R	ENSP00000322604:S612R	S	-	3	2	PCDH15	55562722	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.252000	0.32874	0.049000	0.15920	0.591000	0.81541	AGC		PASS	0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	33	9	33	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61029743	61029743	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:61029743C>T	ENST00000373868.2	-	7	806	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	FAM13C_ENST00000468840.2_Missense_Mutation_p.R157Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.R240Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.R240Q|FAM13C_ENST00000373867.3_Missense_Mutation_p.R157Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.R261Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.R240Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.R261Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	240								p.R240Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GATGGAGCATCGTGGCGACAG	0.527																																						uc001jkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(718-720)CGA>CAA		hypothetical protein LOC220965 isoform 1							104.0	92.0	96.0					10																	61029743		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61029743C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.719G>A	10.37:g.61029743C>T	ENSP00000362975:p.Arg240Gln					FAM13C_uc001jko.2_Missense_Mutation_p.R240Q|FAM13C_uc010qid.1_Missense_Mutation_p.R157Q|FAM13C_uc010qie.1_Missense_Mutation_p.R157Q|FAM13C_uc010qif.1_Missense_Mutation_p.R262Q|FAM13C_uc001jkp.2_Missense_Mutation_p.R157Q	p.R240Q	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			8	853	-			240					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.719G>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354525	0.95854	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-0.86;-1.08;-1.08;-1.08;-1.08	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000004	D	0.89266	0.6666	M	0.81497	2.545	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.997;0.998	D	0.90002	0.4115	10	0.87932	D	0	-12.2141	19.7156	0.96119	0.0:1.0:0.0:0.0	.	240;157;240;240;240	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	Q	157;240;261;261;240;157;240;240;18	ENSP00000362974:R157Q;ENSP00000362975:R240Q;ENSP00000395661:R261Q;ENSP00000277705:R261Q;ENSP00000391993:R240Q;ENSP00000423896:R157Q;ENSP00000392302:R240Q;ENSP00000400241:R240Q;ENSP00000445068:R18Q	ENSP00000277705:R261Q	R	-	2	0	FAM13C	60699749	1.000000	0.71417	0.940000	0.37924	0.840000	0.47671	7.088000	0.76901	2.658000	0.90341	0.655000	0.94253	CGA		PASS	0.527	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			10	35	10	35	---	---	---	---
PPP3CB	5532	broad.mit.edu	37	10	75239135	75239135	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:75239135C>G	ENST00000360663.5	-	2	337	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E76Q|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E76Q|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E76Q|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E76Q			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	76	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.E76Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GCAGCACCCTCATTGATAATT	0.393																																						uc001jue.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(226-228)GAG>CAG		protein phosphatase 3, catalytic subunit, beta							222.0	215.0	217.0					10																	75239135		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75239135C>G	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.226G>C	10.37:g.75239135C>G	ENSP00000353881:p.Glu76Gln					PPP3CB_uc001juf.2_Missense_Mutation_p.E76Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E76Q|PPP3CB_uc001jui.2_Missense_Mutation_p.E76Q|PPP3CB_uc001juh.2_5'UTR	p.E76Q	NM_021132	NP_066955	P16298	PP2BB_HUMAN			2	361	-	Prostate(51;0.0119)		76			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.226G>C	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545851	0.65198	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.61	5.61	0.85477	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000011	T	0.77177	0.4092	L	0.61387	1.9	0.80722	D	1	P;B;D;B	0.71674	0.847;0.056;0.998;0.112	P;B;D;B	0.76071	0.485;0.008;0.987;0.01	T	0.72090	-0.4395	10	0.27082	T	0.32	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	76;76;76;76	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	Q	76	ENSP00000353881:E76Q;ENSP00000378306:E76Q;ENSP00000378305:E76Q;ENSP00000343147:E76Q;ENSP00000378299:E76Q	ENSP00000343147:E76Q	E	-	1	0	PPP3CB	74909141	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.779000	0.85648	2.661000	0.90470	0.655000	0.94253	GAG		PASS	0.393	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		38	129	38	129	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79613209	79613209	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:79613209C>A	ENST00000372391.2	-	5	772	c.767G>T	c.(766-768)cGg>cTg	p.R256L	DLG5_ENST00000372388.2_Missense_Mutation_p.R256L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	256					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.R256L(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTTTCGCTCCCGCAGCAGCTG	0.622																																						uc001jzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(3)	8						c.(766-768)CGG>CTG		discs large homolog 5							58.0	42.0	48.0					10																	79613209		2203	4299	6502	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79613209C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.767G>T	10.37:g.79613209C>A	ENSP00000361467:p.Arg256Leu					DLG5_uc001jzj.2_Missense_Mutation_p.R11L|DLG5_uc009xru.1_RNA	p.R256L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		5	837	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		256					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.767G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986978	0.93106	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04809	3.55;3.59	4.6	4.6	0.57074	.	0.213520	0.23534	N	0.047147	T	0.12135	0.0295	M	0.68317	2.08	0.43531	D	0.995813	P;P	0.49696	0.927;0.621	P;B	0.47346	0.544;0.269	T	0.02042	-1.1224	10	0.66056	D	0.02	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	256;256	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	L	256	ENSP00000361467:R256L;ENSP00000361464:R256L	ENSP00000361464:R256L	R	-	2	0	DLG5	79283215	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.252000	0.78309	2.266000	0.75297	0.655000	0.94253	CGG		PASS	0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			6	7	6	7	---	---	---	---
TSPAN14	81619	broad.mit.edu	37	10	82271915	82271915	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:82271915G>T	ENST00000429989.3	+	6	689	c.466G>T	c.(466-468)Gca>Tca	p.A156S	TSPAN14_ENST00000372156.1_Missense_Mutation_p.A156S|TSPAN14_ENST00000372158.1_Missense_Mutation_p.A156S|TSPAN14_ENST00000341863.6_Missense_Mutation_p.A99S|TSPAN14_ENST00000481124.1_Missense_Mutation_p.A33S|TSPAN14_ENST00000372164.3_Missense_Mutation_p.A139S	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	156					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.A156S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GTGCTGTGGCGCATATGGCCC	0.577																																						uc001kcj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(466-468)GCA>TCA		tetraspanin 14 isoform 1							107.0	98.0	101.0					10																	82271915		2203	4300	6503	SO:0001583	missense	81619					integral to membrane		g.chr10:82271915G>T	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.466G>T	10.37:g.82271915G>T	ENSP00000396270:p.Ala156Ser					TSPAN14_uc009xss.2_Missense_Mutation_p.A33S|TSPAN14_uc001kci.3_Missense_Mutation_p.A139S	p.A156S	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		6	573	+			156					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	c.466G>T	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555497	0.65425	.	.	ENSG00000108219	ENST00000429989;ENST00000481124;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.25	5.25	0.73442	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	L	0.31371	0.925	0.80722	D	1	D;B;P	0.71674	0.998;0.068;0.517	D;B;B	0.76575	0.988;0.134;0.384	T	0.75382	-0.3337	10	0.15066	T	0.55	-17.072	16.3451	0.83120	0.0:0.0:1.0:0.0	.	33;156;139	B4DHY6;Q8NG11;Q8NG11-2	.;TSN14_HUMAN;.	S	156;33;126;139;156;99;156	ENSP00000396270:A156S;ENSP00000418195:A33S;ENSP00000361230:A126S;ENSP00000361237:A139S;ENSP00000361231:A156S;ENSP00000344076:A99S;ENSP00000361229:A156S	ENSP00000344076:A99S	A	+	1	0	TSPAN14	82261895	1.000000	0.71417	0.230000	0.23976	0.790000	0.44656	9.740000	0.98839	2.448000	0.82819	0.563000	0.77884	GCA		PASS	0.577	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		5	44	5	44	---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105657461	105657461	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:105657461C>A	ENST00000224950.3	-	7	765	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D200Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	200	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.D200Y(1)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CTGGGGAGGTCCAGGGCGCCT	0.463																																						uc001kxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)GAC>TAC		oligonucleotide/oligosaccharide-binding fold							74.0	78.0	77.0					10																	105657461		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657461C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.598G>T	10.37:g.105657461C>A	ENSP00000224950:p.Asp200Tyr					OBFC1_uc001kxm.2_Missense_Mutation_p.D200Y|OBFC1_uc001kxn.2_RNA	p.D200Y	NM_024928	NP_079204	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	6	673	-		Colorectal(252;0.178)	200					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.598G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866561	0.32977	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.48836	0.8;0.8	5.39	4.48	0.54585	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.493673	0.24294	N	0.039789	T	0.64594	0.2612	M	0.72479	2.2	0.37630	D	0.921652	D	0.89917	1.0	D	0.81914	0.995	T	0.70160	-0.4948	10	0.62326	D	0.03	-12.9116	9.8287	0.40928	0.0:0.9056:0.0:0.0944	.	200	Q9H668	STN1_HUMAN	Y	200	ENSP00000224950:D200Y;ENSP00000358779:D200Y	ENSP00000224950:D200Y	D	-	1	0	OBFC1	105647451	1.000000	0.71417	0.994000	0.49952	0.044000	0.14063	0.739000	0.26173	1.264000	0.44198	0.650000	0.86243	GAC		PASS	0.463	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		6	51	6	51	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115365538	115365538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:115365538C>A	ENST00000359988.3	-	34	4142	c.3898G>T	c.(3898-3900)Gga>Tga	p.G1300*	NRAP_ENST00000369358.4_Nonsense_Mutation_p.G1308*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.G1265*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.G1273*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.G1300*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTATATCTCCAGAGGCCCGG	0.463																																						uc001laj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(3898-3900)GGA>TGA		nebulin-related anchoring protein isoform S							297.0	311.0	306.0					10																	115365538		2203	4300	6503	SO:0001587	stop_gained	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365538C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3898G>T	10.37:g.115365538C>A	ENSP00000353078:p.Gly1300*					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Nonsense_Mutation_p.G1265*|NRAP_uc001lal.3_Nonsense_Mutation_p.G1300*	p.G1300*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	34	4062	-		Colorectal(252;0.0233)|Breast(234;0.188)	1300			Nebulin 34.			Nonsense_Mutation	SNP	ENST00000359988.3	37	c.3898G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	43	10.023837	0.99319	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	.	.	.	5.24	3.27	0.37495	.	0.298590	0.37483	N	0.002077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6657	0.23039	0.0:0.6457:0.1499:0.2044	.	.	.	.	X	1308;1273;1300;1265	.	ENSP00000353078:G1300X	G	-	1	0	NRAP	115355528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.630000	0.37081	1.348000	0.45733	0.555000	0.69702	GGA		PASS	0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		61	226	61	226	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118321144	118321144	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:118321144A>G	ENST00000369221.2	+	12	1358	c.1330A>G	c.(1330-1332)Aaa>Gaa	p.K444E		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	444	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.K444E(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AAATGTTGGAAAACAGTAAGT	0.363																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1330-1332)AAA>GAA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						103.0	101.0	101.0					10																	118321144		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118321144A>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1330A>G	10.37:g.118321144A>G	ENSP00000358223:p.Lys444Glu						p.K444E	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	12	1373	+			444			PLAT.		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1330A>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	a	0.947	-0.707732	0.03230	.	.	ENSG00000175535	ENST00000369221	T	0.65178	-0.14	5.99	-1.31	0.09230	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	1.100360	0.06731	N	0.776719	T	0.53417	0.1795	L	0.49126	1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41197	-0.9522	10	0.27785	T	0.31	.	9.6634	0.39969	0.3421:0.5234:0.1345:0.0	.	444	P16233	LIPP_HUMAN	E	444	ENSP00000358223:K444E	ENSP00000358223:K444E	K	+	1	0	PNLIP	118311134	0.000000	0.05858	0.009000	0.14445	0.294000	0.27393	-0.560000	0.05964	-0.074000	0.12820	-0.256000	0.11100	AAA		PASS	0.363	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		14	36	14	36	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124339201	124339201	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:124339201T>C	ENST00000338354.3	+	10	893	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	DMBT1_ENST00000368909.3_Missense_Mutation_p.W263R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.W263R|DMBT1_ENST00000368955.3_Missense_Mutation_p.W263R|DMBT1_ENST00000330163.4_Missense_Mutation_p.W263R|DMBT1_ENST00000344338.3_Missense_Mutation_p.W263R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	263	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.W263R(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGATGACTACTGGGACACCAA	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(787-789)TGG>CGG		deleted in malignant brain tumors 1 isoform b							236.0	234.0	234.0					10																	124339201		2011	4187	6198	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339201T>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.787T>C	10.37:g.124339201T>C	ENSP00000342210:p.Trp263Arg					DMBT1_uc001lgl.1_Missense_Mutation_p.W263R|DMBT1_uc001lgm.1_Missense_Mutation_p.W263R|DMBT1_uc009xzz.1_Missense_Mutation_p.W263R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.W115R	p.W263R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	893	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	263			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.787T>C		.	.	.	.	.	.	.	.	.	.	T	16.20	3.054608	0.55218	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	4.07	4.07	0.47477	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.83445	0.5256	H	0.99969	5.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90727	0.4639	9	0.87932	D	0	.	13.4076	0.60922	0.0:0.0:0.0:1.0	.	263;263;263;263;263	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	R	263	ENSP00000342210:W263R;ENSP00000343175:W263R;ENSP00000327747:W263R;ENSP00000357905:W263R;ENSP00000357951:W263R;ENSP00000357952:W263R	ENSP00000331522:W263R	W	+	1	0	DMBT1	124329191	1.000000	0.71417	0.951000	0.38953	0.323000	0.28346	7.648000	0.83479	1.641000	0.50575	0.438000	0.28831	TGG		PASS	0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		41	155	41	155	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124339203	124339203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:124339203G>A	ENST00000338354.3	+	10	895	c.789G>A	c.(787-789)tgG>tgA	p.W263*	DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W263*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W263*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W263*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W263*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W263*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	263	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.W263*(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGACTACTGGGACACCAATG	0.617																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(7)	7						c.(787-789)TGG>TGA		deleted in malignant brain tumors 1 isoform b							232.0	230.0	231.0					10																	124339203		2010	4190	6200	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339203G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.789G>A	10.37:g.124339203G>A	ENSP00000342210:p.Trp263*					DMBT1_uc001lgl.1_Nonsense_Mutation_p.W263*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.W263*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W263*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Nonsense_Mutation_p.W115*	p.W263*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	895	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	263			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.789G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.615454	0.96649	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	.	.	.	4.07	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0083	0.53272	0.0861:0.0:0.9139:0.0	.	.	.	.	X	263	.	ENSP00000331522:W263X	W	+	3	0	DMBT1	124329193	1.000000	0.71417	0.997000	0.53966	0.462000	0.32619	9.371000	0.97162	0.853000	0.35312	0.537000	0.68136	TGG		PASS	0.617	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		42	157	42	157	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124353098	124353098	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr10:124353098G>A	ENST00000338354.3	+	21	2620	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	DMBT1_ENST00000368909.3_Silent_p.R838R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Silent_p.R828R|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Silent_p.R828R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	838					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.R838R(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCAGTCCCGGCCGACACCCA	0.517																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(7)	7						c.(2512-2514)CGG>CGA		deleted in malignant brain tumors 1 isoform b							439.0	330.0	365.0					10																	124353098		1905	4072	5977	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124353098G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2514G>A	10.37:g.124353098G>A						DMBT1_uc001lgl.1_Silent_p.R828R|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.R838R|DMBT1_uc010qtx.1_Intron	p.R838R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			21	2620	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	838					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.2514G>A																																																																																					PASS	0.517	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		37	152	37	152	---	---	---	---
TNNI2	7136	broad.mit.edu	37	11	1861789	1861789	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:1861789T>A	ENST00000381906.1	+	5	158	c.89T>A	c.(88-90)cTg>cAg	p.L30Q	TNNI2_ENST00000381911.1_Missense_Mutation_p.L30Q|TNNI2_ENST00000381905.3_Missense_Mutation_p.L30Q|TNNI2_ENST00000252898.7_Missense_Mutation_p.L30Q	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	30	Involved in binding TNC.				muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)	p.L30Q(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACGGAGCTGGAGAAGGAG	0.677																																						uc010qxe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CTG>CAG		fast-twitch skeletal muscle troponin I isoform							22.0	30.0	27.0					11																	1861789		2199	4295	6494	SO:0001583	missense	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1861789T>A	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.89T>A	11.37:g.1861789T>A	ENSP00000371331:p.Leu30Gln					TNNI2_uc010qxc.1_Missense_Mutation_p.L28Q|TNNI2_uc010qxd.1_Missense_Mutation_p.L28Q	p.L30Q	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	111	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	30			Involved in binding TNC.		A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	c.89T>A	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	t	12.35	1.911435	0.33721	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	2.78	0.308	0.15815	.	0.290290	0.27956	N	0.017180	D	0.96926	0.8996	M	0.90922	3.16	0.42057	D	0.991147	D;D	0.89917	0.995;1.0	D;D	0.76575	0.928;0.988	D	0.95335	0.8433	10	0.72032	D	0.01	-0.7385	8.1641	0.31215	0.3201:0.0:0.0:0.6799	.	30;30	A6NIV8;P48788	.;TNNI2_HUMAN	Q	30	ENSP00000371336:L30Q;ENSP00000371331:L30Q;ENSP00000252898:L30Q;ENSP00000371330:L30Q	ENSP00000252898:L30Q	L	+	2	0	TNNI2	1818365	0.855000	0.29742	0.998000	0.56505	0.046000	0.14306	1.031000	0.30165	0.046000	0.15833	-0.829000	0.03081	CTG		PASS	0.677	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		8	17	8	17	---	---	---	---
NAP1L4	4676	broad.mit.edu	37	11	2981043	2981043	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:2981043C>A	ENST00000380542.4	-	9	843	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	NAP1L4_ENST00000526115.1_Missense_Mutation_p.D235Y	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	235					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.D235Y(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		GAAAAGGGATCAGCCTTATCT	0.373																																						uc001lxc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(703-705)GAT>TAT		nucleosome assembly protein 1-like 4							143.0	131.0	135.0					11																	2981043		1852	4083	5935	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2981043C>A	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.703G>T	11.37:g.2981043C>A	ENSP00000369915:p.Asp235Tyr					NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.D235Y|NAP1L4_uc010qxn.1_Missense_Mutation_p.D235Y	p.D235Y	NM_005969	NP_005960	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	9	844	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	235					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.703G>T	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065514	0.76187	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000532325;ENST00000448187	T;T;T	0.27104	1.69;1.69;1.69	4.87	4.87	0.63330	.	0.101360	0.64402	D	0.000003	T	0.54351	0.1853	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.79108	0.992;0.808	T	0.56786	-0.7921	10	0.46703	T	0.11	-13.1904	18.2123	0.89874	0.0:1.0:0.0:0.0	.	235;235	F5HFY4;Q99733	.;NP1L4_HUMAN	Y	235;235;235;120;247	ENSP00000369915:D235Y;ENSP00000436397:D235Y;ENSP00000387783:D247Y	ENSP00000369915:D235Y	D	-	1	0	NAP1L4	2937619	1.000000	0.71417	0.480000	0.27341	0.695000	0.40330	7.196000	0.77805	2.537000	0.85549	0.557000	0.71058	GAT		PASS	0.373	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		4	27	4	27	---	---	---	---
OR52K2	119774	broad.mit.edu	37	11	4470671	4470671	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:4470671C>T	ENST00000325719.4	+	1	147	c.102C>T	c.(100-102)tgC>tgT	p.C34C	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C34C(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTTTCTGCTTAGCATATA	0.512																																						uc001lyz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(100-102)TGC>TGT		olfactory receptor, family 52, subfamily K,							166.0	144.0	151.0					11																	4470671		2201	4298	6499	SO:0001819	synonymous_variant	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470671C>T	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.102C>T	11.37:g.4470671C>T							p.C34C	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	102	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	34			Helical; Name=1; (Potential).		A8MUY8|B2RP35|Q6IFK4	Silent	SNP	ENST00000325719.4	37	c.102C>T	CCDS31351.1																																																																																				PASS	0.512	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		30	74	30	74	---	---	---	---
OR51G1	79324	broad.mit.edu	37	11	4945209	4945209	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:4945209A>T	ENST00000321961.2	-	1	428	c.361T>A	c.(361-363)Tcc>Acc	p.S121T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S121T(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGTCAATGGACATGGATAAC	0.502																																						uc010qyr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(361-363)TCC>ACC		olfactory receptor, family 51, subfamily G,							109.0	98.0	102.0					11																	4945209		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945209A>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.361T>A	11.37:g.4945209A>T	ENSP00000322546:p.Ser121Thr						p.S121T	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	361	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	121			Helical; Name=3; (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.361T>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.793078	0.31685	.	.	ENSG00000176879	ENST00000321961	T	0.50001	0.76	4.2	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.204155	0.24523	U	0.037791	T	0.60728	0.2291	M	0.93106	3.38	0.30196	N	0.799038	P	0.42409	0.779	P	0.45099	0.469	T	0.66594	-0.5884	10	0.87932	D	0	.	9.6304	0.39776	0.4988:0.5012:0.0:0.0	.	121	Q8NGK1	O51G1_HUMAN	T	121	ENSP00000322546:S121T	ENSP00000322546:S121T	S	-	1	0	OR51G1	4901785	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	1.143000	0.31553	0.615000	0.30124	0.455000	0.32223	TCC		PASS	0.502	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		4	32	4	32	---	---	---	---
OR51B6	390058	broad.mit.edu	37	11	5373146	5373146	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:5373146A>T	ENST00000380219.1	+	1	409	c.409A>T	c.(409-411)Acc>Tcc	p.T137S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	137					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T137S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGACCAACACCCAGGTAAT	0.478																																						uc010qzb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(409-411)ACC>TCC		olfactory receptor, family 51, subfamily B,							136.0	118.0	124.0					11																	5373146		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373146A>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.409A>T	11.37:g.5373146A>T	ENSP00000369568:p.Thr137Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.T137S	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	409	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	137			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.409A>T	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.291339	0.00248	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.36520	1.25	5.01	-2.68	0.06041	GPCR, rhodopsin-like superfamily (1);	0.680540	0.13337	N	0.395453	T	0.08044	0.0201	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29792	-1.0000	10	0.02654	T	1	.	0.4168	0.00449	0.2745:0.1322:0.2019:0.3914	.	137	Q9H340	O51B6_HUMAN	S	136;137	ENSP00000369568:T137S	ENSP00000369568:T137S	T	+	1	0	OR51B6	5329722	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-2.553000	0.00927	-0.214000	0.10078	0.374000	0.22700	ACC		PASS	0.478	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		7	65	7	65	---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5626790	5626790	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:5626790T>A	ENST00000278302.5	+	4	883	c.743T>A	c.(742-744)cTg>cAg	p.L248Q	TRIM6_ENST00000507320.1_Missense_Mutation_p.L73Q|TRIM6_ENST00000380107.1_Missense_Mutation_p.L222Q|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Missense_Mutation_p.L73Q|TRIM6_ENST00000445329.1_Missense_Mutation_p.L73Q|TRIM6_ENST00000380097.3_Missense_Mutation_p.L276Q|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.L276Q|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000506134.1_Missense_Mutation_p.L73Q	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	248					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.L276Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACAATGGAGCTGCTGCAGGTA	0.507											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001mbf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(826-828)CTG>CAG		tripartite motif-containing 6 and tripartite							47.0	46.0	46.0					11																	5626790		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5626790T>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.743T>A	11.37:g.5626790T>A	ENSP00000278302:p.Leu248Gln		OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.L222Q|TRIM6_uc010qzj.1_Missense_Mutation_p.L73Q|TRIM6_uc001mbc.1_Missense_Mutation_p.L248Q|TRIM6_uc001mbe.2_Missense_Mutation_p.L73Q|TRIM6_uc010qzk.1_Missense_Mutation_p.L73Q|TRIM6_uc010qzl.1_Missense_Mutation_p.L73Q|TRIM6_uc001mbd.2_Missense_Mutation_p.L276Q|TRIM6_uc001mbg.1_Missense_Mutation_p.L73Q|TRIM6_uc009yep.1_Missense_Mutation_p.L73Q	p.L276Q	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	4	1071	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	276					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.827T>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618915	0.66787	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	4.85	4.85	0.62838	.	.	.	.	.	T	0.43919	0.1269	M	0.89715	3.055	0.25552	N	0.987073	D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.984;0.916;0.999;0.998	T	0.41288	-0.9517	9	0.87932	D	0	.	11.3953	0.49838	0.0:0.0:0.0:1.0	.	73;222;276;276;248	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	Q	248;73;73;222;276;73;155;73;73;276;276	ENSP00000278302:L248Q;ENSP00000414108:L73Q;ENSP00000427704:L73Q;ENSP00000369450:L222Q;ENSP00000369440:L276Q;ENSP00000399215:L73Q;ENSP00000421802:L73Q;ENSP00000421079:L73Q;ENSP00000346916:L276Q	ENSP00000278302:L248Q	L	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5583366	0.959000	0.32827	0.976000	0.42696	0.898000	0.52572	2.566000	0.45948	2.137000	0.66172	0.533000	0.62120	CTG		PASS	0.507	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		3	19	3	19	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799597	5799597	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:5799597C>A	ENST00000317093.2	-	1	300	c.268G>T	c.(268-270)Gca>Tca	p.A90S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A90S(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGCAGAGTGCATTGGGTAGA	0.448																																						uc010qzn.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(268-270)GCA>TCA		olfactory receptor, family 52, subfamily N,							98.0	94.0	95.0					11																	5799597		2120	4090	6210	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799597C>A	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.268G>T	11.37:g.5799597C>A	ENSP00000322866:p.Ala90Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.A90S	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	268	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	90			Extracellular (Potential).		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.268G>T	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413666	0.25465	.	.	ENSG00000181009	ENST00000317093	T	0.03035	4.07	3.58	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.690856	0.10947	U	0.616596	T	0.03871	0.0109	L	0.38531	1.155	0.09310	N	1	B	0.28552	0.215	B	0.29353	0.101	T	0.41270	-0.9518	10	0.66056	D	0.02	.	5.4074	0.16328	0.0:0.6599:0.0:0.3401	.	90	Q8NH56	O52N5_HUMAN	S	90	ENSP00000322866:A90S	ENSP00000322866:A90S	A	-	1	0	OR52N5	5756173	0.000000	0.05858	0.853000	0.33588	0.940000	0.58332	-0.907000	0.04067	0.847000	0.35167	0.390000	0.25778	GCA		PASS	0.448	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		10	44	10	44	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862836	5862836	+	Missense_Mutation	SNP	C	C	A	rs145073549	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:5862836C>A	ENST00000329322.5	-	1	291	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C	OR52E6_ENST00000379946.2_Missense_Mutation_p.G102C|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G102C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGTAGCCTCCAAAAGAT	0.468																																						uc010qzq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(292-294)GGC>TGC		olfactory receptor, family 52, subfamily E,							140.0	139.0	139.0					11																	5862836		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862836C>A	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.292G>T	11.37:g.5862836C>A	ENSP00000328878:p.Gly98Cys					TRIM5_uc001mbq.1_Intron	p.G98C	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	292	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	98			Extracellular (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.292G>T	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793757	0.16327	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.10005	2.92;2.92	3.64	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.357838	0.23591	N	0.046556	T	0.15089	0.0364	M	0.85462	2.755	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.17745	-1.0359	10	0.62326	D	0.03	.	6.8503	0.24010	0.0:0.7315:0.0:0.2685	.	98	Q96RD3	O52E6_HUMAN	C	98;102	ENSP00000328878:G98C;ENSP00000369279:G102C	ENSP00000328878:G98C	G	-	1	0	OR52E6	5819412	0.000000	0.05858	0.003000	0.11579	0.859000	0.49053	0.100000	0.15231	0.732000	0.32470	0.551000	0.68910	GGC		PASS	0.468	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		30	82	30	82	---	---	---	---
OR52E8	390079	broad.mit.edu	37	11	5878459	5878459	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:5878459G>T	ENST00000537935.1	-	1	505	c.474C>A	c.(472-474)agC>agA	p.S158R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S158R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTACAGGCTCCTCAGGA	0.507																																						uc010qzr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(472-474)AGC>AGA		olfactory receptor, family 52, subfamily E,							136.0	148.0	144.0					11																	5878459		2153	4296	6449	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878459G>T	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.474C>A	11.37:g.5878459G>T	ENSP00000444054:p.Ser158Arg					TRIM5_uc001mbq.1_Intron	p.S158R	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	474	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	158			Helical; Name=4; (Potential).		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.474C>A	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	G	4.201	0.036073	0.08148	.	.	ENSG00000183269	ENST00000537935	T	0.47869	0.83	4.35	-2.13	0.07144	GPCR, rhodopsin-like superfamily (1);	0.171600	0.40908	D	0.000989	T	0.49949	0.1587	M	0.92219	3.285	0.09310	N	1	B	0.09022	0.002	B	0.20577	0.03	T	0.53718	-0.8399	10	0.66056	D	0.02	.	5.6471	0.17596	0.3892:0.2436:0.3672:0.0	.	158	Q6IFG1	O52E8_HUMAN	R	158	ENSP00000444054:S158R	ENSP00000444054:S158R	S	-	3	2	OR52E8	5835035	0.000000	0.05858	0.005000	0.12908	0.046000	0.14306	-2.012000	0.01451	-0.294000	0.08973	-0.234000	0.12200	AGC		PASS	0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		46	87	46	87	---	---	---	---
OR6A2	8590	broad.mit.edu	37	11	6816427	6816427	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:6816427G>T	ENST00000332601.3	-	1	701	c.513C>A	c.(511-513)ctC>ctA	p.L171L		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	171					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|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.L171L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACAGTAAGAGAGGCCAGAAA	0.488																																						uc001mes.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(511-513)CTC>CTA		olfactory receptor, family 6, subfamily A,							116.0	117.0	117.0					11																	6816427		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816427G>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.513C>A	11.37:g.6816427G>T							p.L171L	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	713	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	171			Extracellular (Potential).		Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.513C>A	CCDS7772.1																																																																																				PASS	0.488	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		7	52	7	52	---	---	---	---
OR2D2	120776	broad.mit.edu	37	11	6913409	6913409	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:6913409C>A	ENST00000299459.2	-	1	421	c.323G>T	c.(322-324)gGg>gTg	p.G108V		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G108V(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGGGTACACCCAAAAATGAG	0.473																																						uc010rau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(322-324)GGG>GTG		olfactory receptor, family 2, subfamily D,							115.0	94.0	101.0					11																	6913409		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913409C>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.323G>T	11.37:g.6913409C>A	ENSP00000299459:p.Gly108Val						p.G108V	NM_003700	NP_003691	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	323	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	108			Helical; Name=3; (Potential).		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.323G>T	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	15.74	2.921671	0.52653	.	.	ENSG00000166368	ENST00000299459	T	0.01359	4.98	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000120	T	0.06325	0.0163	L	0.54965	1.715	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	T	0.10870	-1.0611	10	0.56958	D	0.05	-9.9361	14.5363	0.67963	0.0:1.0:0.0:0.0	.	108	Q9H210	OR2D2_HUMAN	V	108	ENSP00000299459:G108V	ENSP00000299459:G108V	G	-	2	0	OR2D2	6869985	0.000000	0.05858	0.706000	0.30403	0.597000	0.36814	-0.254000	0.08781	2.898000	0.99336	0.645000	0.84053	GGG		PASS	0.473	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		17	38	17	38	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7981912	7981912	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:7981912A>G	ENST00000328600.2	-	2	1408	c.1247T>C	c.(1246-1248)cTa>cCa	p.L416P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	416	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.L416P(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)		TTCAGCTGCTAGGGAGCACAG	0.547																																						uc001mfv.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1246-1248)CTA>CCA		NLR family, pyrin domain containing 10							50.0	53.0	52.0					11																	7981912		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981912A>G	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.1247T>C	11.37:g.7981912A>G	ENSP00000327763:p.Leu416Pro						p.L416P	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1264	-			416			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1247T>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972267	0.34754	.	.	ENSG00000182261	ENST00000328600	D	0.88975	-2.45	4.93	4.93	0.64822	.	0.000000	0.31507	N	0.007521	D	0.94847	0.8335	M	0.89968	3.075	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.95381	0.8473	10	0.87932	D	0	.	11.2665	0.49114	1.0:0.0:0.0:0.0	.	416	Q86W26	NAL10_HUMAN	P	416	ENSP00000327763:L416P	ENSP00000327763:L416P	L	-	2	0	NLRP10	7938488	1.000000	0.71417	0.998000	0.56505	0.014000	0.08584	4.915000	0.63355	1.996000	0.58369	0.533000	0.62120	CTA		PASS	0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		10	56	10	56	---	---	---	---
GALNT18	374378	broad.mit.edu	37	11	11348656	11348656	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:11348656T>C	ENST00000227756.4	-	9	1900	c.1489A>G	c.(1489-1491)Atc>Gtc	p.I497V		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	497	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I497V(1)									CCATGGCAGATGTACATGATG	0.517																																						uc001mjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1489-1491)ATC>GTC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							133.0	114.0	121.0					11																	11348656		2201	4294	6495	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11348656T>C	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1489A>G	11.37:g.11348656T>C	ENSP00000227756:p.Ile497Val						p.I497V	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	9	1910	-			497			Lumenal (Potential).|Ricin B-type lectin.		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1489A>G	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	T	9.549	1.115540	0.20795	.	.	ENSG00000110328	ENST00000227756	T	0.26067	1.76	5.78	3.14	0.36123	Ricin B-related lectin (1);Ricin B lectin (3);	0.502579	0.21309	N	0.076676	T	0.17959	0.0431	L	0.36672	1.1	0.30403	N	0.77981	B	0.19073	0.033	B	0.23018	0.043	T	0.14227	-1.0480	10	0.22109	T	0.4	.	7.7267	0.28763	0.1293:0.0:0.2368:0.6339	.	497	Q6P9A2	GLTL4_HUMAN	V	497	ENSP00000227756:I497V	ENSP00000227756:I497V	I	-	1	0	GALNTL4	11305232	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.557000	0.45871	0.978000	0.38470	0.460000	0.39030	ATC		PASS	0.517	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		5	38	5	38	---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14480146	14480146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:14480146C>A	ENST00000249923.3	-	21	3034	c.2734G>T	c.(2734-2736)Gag>Tag	p.E912*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.E912*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	912					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.E912*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ATTGGCTTCTCAATGCTGACA	0.433																																						uc001mli.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2734-2736)GAG>TAG		coatomer protein complex, subunit beta 1							99.0	99.0	99.0					11																	14480146		2200	4294	6494	SO:0001587	stop_gained	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14480146C>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2734G>T	11.37:g.14480146C>A	ENSP00000249923:p.Glu912*					COPB1_uc001mlg.2_Nonsense_Mutation_p.E912*|COPB1_uc001mlh.2_Nonsense_Mutation_p.E912*	p.E912*	NM_016451	NP_057535	P53618	COPB_HUMAN			21	3041	-			912					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Nonsense_Mutation	SNP	ENST00000249923.3	37	c.2734G>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	43	10.274916	0.99373	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6846	0.95976	0.0:1.0:0.0:0.0	.	.	.	.	X	912	.	ENSP00000249923:E912X	E	-	1	0	COPB1	14436722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.534000	0.82004	2.644000	0.89710	0.655000	0.94253	GAG		PASS	0.433	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		9	61	9	61	---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16036565	16036565	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:16036565T>A	ENST00000352083.6	-	13	1732	c.1655A>T	c.(1654-1656)cAg>cTg	p.Q552L	SOX6_ENST00000396356.3_Missense_Mutation_p.Q552L|SOX6_ENST00000316399.6_Missense_Mutation_p.Q552L|SOX6_ENST00000527619.1_Missense_Mutation_p.Q528L|SOX6_ENST00000528252.1_Missense_Mutation_p.Q525L|SOX6_ENST00000528429.1_Missense_Mutation_p.Q552L			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	552					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q552L(1)|p.Q528L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCCCGTTAACTGGGGCCCCAA	0.458																																						uc001mme.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1693-1695)CAG>CTG		SRY (sex determining region Y)-box 6 isoform 4							83.0	80.0	81.0					11																	16036565		2200	4293	6493	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16036565T>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1655A>T	11.37:g.16036565T>A	ENSP00000339876:p.Gln552Leu					SOX6_uc001mmd.2_Missense_Mutation_p.Q528L|SOX6_uc001mmf.2_Missense_Mutation_p.Q525L|SOX6_uc001mmg.2_Missense_Mutation_p.Q552L	p.Q565L	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			13	1727	-			552					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.1694A>T		.	.	.	.	.	.	.	.	.	.	T	16.71	3.198374	0.58126	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98044	-4.61;-4.67;-4.61;-4.68;-4.68;-4.67	5.9	5.9	0.94986	.	0.050057	0.85682	D	0.000000	D	0.98009	0.9344	L	0.49778	1.585	0.58432	D	0.999999	P;B;D	0.53745	0.692;0.024;0.962	B;B;D	0.66716	0.275;0.027;0.946	D	0.98479	1.0604	10	0.46703	T	0.11	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	552;552;528	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	L	552;552;552;525;528;552	ENSP00000324948:Q552L;ENSP00000339876:Q552L;ENSP00000379644:Q552L;ENSP00000432134:Q525L;ENSP00000434455:Q528L;ENSP00000433233:Q552L	ENSP00000324948:Q552L	Q	-	2	0	SOX6	15993141	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.656000	0.67988	2.264000	0.75181	0.533000	0.62120	CAG		PASS	0.458	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		4	57	4	57	---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18731979	18731979	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:18731979G>A	ENST00000513874.1	-	17	2735	c.2596C>T	c.(2596-2598)Ctc>Ttc	p.L866F	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	864	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.L765F(1)|p.L866F(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCCTCCAGGAGACCATCCACA	0.532																																						uc009yht.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|kidney(1)	7						c.(2596-2598)CTC>TTC		immunoglobulin superfamily, member 22							83.0	82.0	82.0					11																	18731979		1970	4155	6125	SO:0001583	missense	283284							g.chr11:18731979G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2596C>T	11.37:g.18731979G>A	ENSP00000421191:p.Leu866Phe					IGSF22_uc001mpa.2_RNA	p.L866F	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			17	2786	-			864			Fibronectin type-III 2.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.2596C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795011	0.70452	.	.	ENSG00000179057	ENST00000513874	D	0.84873	-1.91	4.7	4.7	0.59300	.	0.000000	0.31404	U	0.007710	D	0.94085	0.8104	H	0.97023	3.925	0.24009	N	0.996188	D	0.89917	1.0	D	0.91635	0.999	D	0.87682	0.2548	10	0.72032	D	0.01	.	8.958	0.35829	0.103:0.0:0.897:0.0	.	866	D6RGV7	.	F	866	ENSP00000421191:L866F	ENSP00000322422:L765F	L	-	1	0	IGSF22	18688555	0.320000	0.24616	0.999000	0.59377	0.994000	0.84299	0.582000	0.23834	2.137000	0.66172	0.563000	0.77884	CTC		PASS	0.532	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		7	35	7	35	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20660004	20660004	+	Splice_Site	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:20660004G>C	ENST00000525748.1	+	13	2142		c.e13-1		SLC6A5_ENST00000528440.1_Splice_Site	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5						glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCTCCTGTTAGGGTGGAATTT	0.458																																						uc001mqd.2																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.e13-1		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						355.0	263.0	294.0					11																	20660004		2203	4300	6503	SO:0001630	splice_region_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20660004G>C	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1870-1G>C	11.37:g.20660004G>C						SLC6A5_uc009yic.2_Splice_Site_p.G389_splice	p.G624_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			13	2143	+								O95288|Q4VAM7|Q9BX77	Splice_Site	SNP	ENST00000525748.1	37	c.1870_splice	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582328	0.86748	.	.	ENSG00000165970	ENST00000525748	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1	0.97870	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A5	20616580	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.754000	0.98908	2.829000	0.97493	0.655000	0.94253	.		PASS	0.458	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	Intron	15	106	15	106	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034104	30034104	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:30034104G>T	ENST00000328224.6	-	2	1355	c.122C>A	c.(121-123)gCa>gAa	p.A41E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	41					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.A41E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AACAGCAGCTGCTGCAGCTGC	0.667																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(121-123)GCA>GAA		potassium voltage-gated channel, shaker-related							37.0	40.0	39.0					11																	30034104		1854	4046	5900	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034104G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.122C>A	11.37:g.30034104G>T	ENSP00000328511:p.Ala41Glu						p.A41E	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1274	-			41						Missense_Mutation	SNP	ENST00000328224.6	37	c.122C>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491299	0.64074	.	.	ENSG00000182255	ENST00000328224	D	0.97480	-4.4	4.84	4.84	0.62591	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	2.317160	0.02460	N	0.086475	D	0.97642	0.9227	N	0.19112	0.55	0.58432	D	0.999998	D	0.69078	0.997	D	0.83275	0.996	D	0.90085	0.4173	10	0.72032	D	0.01	.	17.9672	0.89102	0.0:0.0:1.0:0.0	.	41	P22459	KCNA4_HUMAN	E	41	ENSP00000328511:A41E	ENSP00000328511:A41E	A	-	2	0	KCNA4	29990680	1.000000	0.71417	0.484000	0.27391	0.311000	0.27955	6.369000	0.73109	2.239000	0.73571	0.561000	0.74099	GCA		PASS	0.667	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		11	52	11	52	---	---	---	---
API5	8539	broad.mit.edu	37	11	43348117	43348117	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:43348117G>C	ENST00000531273.1	+	7	950	c.811G>C	c.(811-813)Ggt>Cgt	p.G271R	API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.G271R|API5_ENST00000455725.2_Missense_Mutation_p.G260R|API5_ENST00000378852.3_Missense_Mutation_p.G271R|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000420461.2_Missense_Mutation_p.G217R			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	271	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.G271R(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CCCTAACCTCGGTACCTTGAC	0.368																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(811-813)GGT>CGT		apoptosis inhibitor 5 isoform a							131.0	134.0	133.0					11																	43348117		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43348117G>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.811G>C	11.37:g.43348117G>C	ENSP00000431391:p.Gly271Arg					API5_uc010rfg.1_Missense_Mutation_p.G260R|API5_uc001mxf.2_Missense_Mutation_p.G271R|API5_uc010rfi.1_Missense_Mutation_p.G217R|API5_uc001mxg.2_Missense_Mutation_p.G145R	p.G271R	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			7	984	+			271					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.811G>C	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817449	0.50633	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.99	-0.278	0.12894	Armadillo-like helical (1);Armadillo-type fold (1);	0.116735	0.85682	D	0.000000	T	0.14570	0.0352	N	0.19112	0.55	0.31603	N	0.652432	P;P;P;P;P	0.48834	0.494;0.916;0.494;0.773;0.773	B;P;B;B;B	0.48488	0.435;0.579;0.435;0.443;0.343	T	0.25082	-1.0142	10	0.16420	T	0.52	-25.3683	10.3195	0.43758	0.6648:0.0:0.3352:0.0	.	217;271;260;271;271	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	R	260;271;217;271;271	ENSP00000399341:G260R;ENSP00000431391:G271R;ENSP00000402540:G217R;ENSP00000368129:G271R;ENSP00000434462:G271R	ENSP00000368129:G271R	G	+	1	0	API5	43304693	0.999000	0.42202	0.995000	0.50966	0.985000	0.73830	2.224000	0.42945	-0.045000	0.13468	-0.302000	0.09304	GGT		PASS	0.368	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		14	103	14	103	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44146495	44146495	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:44146495C>T	ENST00000343631.3	+	5	1029	c.900C>T	c.(898-900)tgC>tgT	p.C300C	EXT2_ENST00000358681.4_Silent_p.C300C|EXT2_ENST00000395673.3_Silent_p.C333C|EXT2_ENST00000533608.1_Silent_p.C300C			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	300					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.C300C(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTAAGCGCTGCCACAAGCACC	0.493			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			2	Substitution - coding silent(2)		lung(2)	lung(2)|breast(2)|skin(1)	5						c.(898-900)TGC>TGT		exostosin 2 isoform 2							89.0	82.0	84.0					11																	44146495		2203	4299	6502	SO:0001819	synonymous_variant	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44146495C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.900C>T	11.37:g.44146495C>T						EXT2_uc010rfo.1_Silent_p.C328C|EXT2_uc001mxy.2_Silent_p.C313C|EXT2_uc009ykt.2_Silent_p.C300C|EXT2_uc001mya.2_Silent_p.C333C	p.C300C	NM_207122	NP_997005	Q93063	EXT2_HUMAN			5	1234	+			300			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	ENST00000343631.3	37	c.900C>T	CCDS7908.1																																																																																				PASS	0.493	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		15	63	15	63	---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671602	45671602	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:45671602G>T	ENST00000308064.2	-	4	1542	c.872C>A	c.(871-873)cCg>cAg	p.P291Q	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	291					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.P291L(1)|p.P291Q(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTTGAGCCACGGGGGCCGCAT	0.622																																						uc001mys.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(4)|pancreas(1)	5						c.(871-873)CCG>CAG		carbohydrate (keratan sulfate Gal-6)							84.0	76.0	79.0					11																	45671602		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671602G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.872C>A	11.37:g.45671602G>T	ENSP00000309270:p.Pro291Gln						p.P291Q	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1543	-			291			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.872C>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486497	0.26686	.	.	ENSG00000175264	ENST00000308064	T	0.79940	-1.32	4.89	3.02	0.34903	Sulfotransferase domain (1);	0.411085	0.26812	N	0.022364	T	0.73032	0.3535	L	0.49126	1.545	0.09310	N	1	P	0.37038	0.579	B	0.38106	0.265	T	0.58504	-0.7625	10	0.16420	T	0.52	-22.9397	10.726	0.46068	0.1549:0.0:0.8451:0.0	.	291	O43916	CHST1_HUMAN	Q	291	ENSP00000309270:P291Q	ENSP00000309270:P291Q	P	-	2	0	CHST1	45628178	0.935000	0.31712	0.026000	0.17262	0.987000	0.75469	5.223000	0.65283	0.483000	0.27608	0.462000	0.41574	CCG		PASS	0.622	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		30	51	30	51	---	---	---	---
MDK	4192	broad.mit.edu	37	11	46404190	46404190	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:46404190A>C	ENST00000405308.2	+	4	727	c.298A>C	c.(298-300)Acc>Ccc	p.T100P	MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395569.4_Missense_Mutation_p.T44P|MDK_ENST00000395565.1_Missense_Mutation_p.T100P|MDK_ENST00000407067.1_Missense_Mutation_p.T100P|MDK_ENST00000359803.3_Missense_Mutation_p.T100P|MDK_ENST00000395566.4_Missense_Mutation_p.T100P	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	100					adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T100P(1)		lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGGCACAGGCACCAAAGTCCG	0.647																																						uc001nco.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)ACC>CCC		midkine							55.0	42.0	47.0					11																	46404190		2201	4299	6500	SO:0001583	missense	4192				adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding	g.chr11:46404190A>C		CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.298A>C	11.37:g.46404190A>C	ENSP00000385451:p.Thr100Pro					MDK_uc009ykz.1_Missense_Mutation_p.T100P|MDK_uc001ncp.2_Missense_Mutation_p.T100P|MDK_uc009yla.2_Missense_Mutation_p.T44P|MDK_uc009ylb.2_Intron|MDK_uc001ncq.2_Missense_Mutation_p.T100P|MDK_uc001ncr.2_RNA|MDK_uc001ncs.2_Missense_Mutation_p.T100P	p.T100P	NM_001012334	NP_001012334	P21741	MK_HUMAN		GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)	4	520	+			100					Q2LEK4|Q9UCC7	Missense_Mutation	SNP	ENST00000405308.2	37	c.298A>C	CCDS7919.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002078	0.74932	.	.	ENSG00000110492	ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.83	4.83	0.62350	Midkine heparin-binding growth factor, N-terminal (1);Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.69214	0.3086	M	0.70595	2.14	0.36741	D	0.882232	D;D;D	0.76494	0.989;0.999;0.998	P;D;D	0.75020	0.834;0.985;0.948	T	0.73291	-0.4029	8	0.38643	T	0.18	.	6.4415	0.21853	0.5947:0.3192:0.0861:0.0	.	44;100;100	Q2LEK4;E9PLM6;P21741	.;.;MK_HUMAN	P	100;100;100;100;44;100;100;100	.	ENSP00000352852:T100P	T	+	1	0	MDK	46360766	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	1.471000	0.35365	2.168000	0.68352	0.528000	0.53228	ACC		PASS	0.647	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317546.2	NM_001012334		3	23	3	23	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46908042	46908042	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:46908042C>A	ENST00000378623.1	-	17	2500	c.2258G>T	c.(2257-2259)cGt>cTt	p.R753L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	753					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R753L(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTGATTCGACGGATGTCCAT	0.522																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2257-2259)CGT>CTT		low density lipoprotein receptor-related protein							85.0	69.0	74.0					11																	46908042		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46908042C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2258G>T	11.37:g.46908042C>A	ENSP00000367888:p.Arg753Leu						p.R753L	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	17	2404	-			753			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2258G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620992	0.96660	.	.	ENSG00000134569	ENST00000378623	D	0.91464	-2.85	5.48	5.48	0.80851	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.84846	2.72	0.80722	D	1	D	0.59357	0.985	P	0.61940	0.896	D	0.95445	0.8529	10	0.56958	D	0.05	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	753	O75096	LRP4_HUMAN	L	753	ENSP00000367888:R753L	ENSP00000367888:R753L	R	-	2	0	LRP4	46864618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.584000	0.87258	0.561000	0.74099	CGT		PASS	0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		14	33	14	33	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47355296	47355296	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:47355296G>A	ENST00000545968.1	-	29	3056	c.3002C>T	c.(3001-3003)cCc>cTc	p.P1001L	MYBPC3_ENST00000256993.4_Missense_Mutation_p.P1000L|MYBPC3_ENST00000399249.2_Missense_Mutation_p.P1001L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1001	Ig-like C2-type 6.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P1001L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CTGAGGCCGGGGCTTGCCCTG	0.652																																						uc001nfa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3001-3003)CCC>CTC		myosin binding protein C, cardiac							34.0	39.0	38.0					11																	47355296		2006	4164	6170	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47355296G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3002C>T	11.37:g.47355296G>A	ENSP00000442795:p.Pro1001Leu						p.P1001L	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	28	3057	-			1000			Ig-like C2-type 6.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.3002C>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015555	0.93404	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.74526	-0.85;-0.85;-0.85	5.03	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89938	0.6860	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92396	0.5925	9	0.87932	D	0	.	18.1541	0.89686	0.0:0.0:1.0:0.0	.	1000	Q14896	MYPC3_HUMAN	L	1001;1001;1000	ENSP00000442795:P1001L;ENSP00000382193:P1001L;ENSP00000256993:P1000L	ENSP00000256993:P1000L	P	-	2	0	MYBPC3	47311872	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.188000	0.94921	2.623000	0.88846	0.585000	0.79938	CCC		PASS	0.652	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			9	11	9	11	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606660	55606660	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:55606660A>C	ENST00000378396.1	+	1	433	c.433A>C	c.(433-435)Atg>Ctg	p.M145L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M145L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACTCTGTGCCATGCTGGTGGT	0.453																																						uc010rio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(433-435)ATG>CTG		olfactory receptor, family 5, subfamily D,							124.0	112.0	116.0					11																	55606660		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606660A>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.433A>C	11.37:g.55606660A>C	ENSP00000367649:p.Met145Leu						p.M145L	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	433	+		all_epithelial(135;0.208)	145			Helical; Name=4; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.433A>C	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	4.350	0.064375	0.08388	.	.	ENSG00000205029	ENST00000378396	T	0.00039	8.85	4.16	-8.32	0.00996	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00047	-2.435	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.33292	-0.9874	9	0.07482	T	0.82	-2.3044	3.616	0.08078	0.1241:0.4464:0.2364:0.1931	.	145	Q8NGK9	OR5DG_HUMAN	L	145	ENSP00000367649:M145L	ENSP00000367649:M145L	M	+	1	0	OR5D16	55363236	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	-8.400000	0.00021	-1.564000	0.01678	-0.706000	0.03657	ATG		PASS	0.453	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		8	72	8	72	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56127828	56127828	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:56127828G>A	ENST00000303039.3	+	1	138	c.106G>A	c.(106-108)Ggg>Agg	p.G36R		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	36			G -> V (in dbSNP:rs7927015).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G36R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GGTGCTCTATGGGCTGACCAT	0.498																																						uc010rjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(106-108)GGG>AGG		olfactory receptor, family 8, subfamily J,							132.0	126.0	128.0					11																	56127828		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127828G>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.106G>A	11.37:g.56127828G>A	ENSP00000304060:p.Gly36Arg						p.G36R	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	106	+	Esophageal squamous(21;0.00448)		36			Helical; Name=1; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.106G>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	G	9.580	1.123413	0.20959	.	.	ENSG00000172487	ENST00000303039	T	0.02974	4.09	4.57	0.276	0.15663	.	0.834406	0.10664	N	0.648359	T	0.05547	0.0146	L	0.42245	1.32	0.09310	N	1	P	0.37176	0.586	P	0.52514	0.701	T	0.44421	-0.9329	10	0.72032	D	0.01	.	0.5843	0.00717	0.3228:0.1802:0.3271:0.1698	.	36	Q8NGP2	OR8J1_HUMAN	R	36	ENSP00000304060:G36R	ENSP00000304060:G36R	G	+	1	0	OR8J1	55884404	0.000000	0.05858	0.069000	0.20011	0.001000	0.01503	-1.697000	0.01910	0.095000	0.17434	-0.930000	0.02707	GGG		PASS	0.498	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		12	90	12	90	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468225	56468225	+	Missense_Mutation	SNP	G	G	C	rs148651508	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:56468225G>C	ENST00000312153.1	+	1	362	c.362G>C	c.(361-363)cGc>cCc	p.R121P		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121P(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCTTATGACCGCTACGTGGCC	0.527																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CGC>CCC		olfactory receptor, family 9, subfamily G,							134.0	124.0	127.0					11																	56468225		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468225G>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.362G>C	11.37:g.56468225G>C	ENSP00000309012:p.Arg121Pro						p.R121P	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	362	+			121			Cytoplasmic (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.362G>C	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806294	0.31961	.	.	ENSG00000174914	ENST00000312153	T	0.77620	-1.11	4.54	0.508	0.16972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	D	0.89022	0.6597	H	0.96996	3.92	0.36079	D	0.842661	D	0.69078	0.997	D	0.69307	0.963	D	0.87441	0.2395	10	0.87932	D	0	-11.8484	5.9681	0.19336	0.2233:0.0:0.6439:0.1329	.	121	Q8NH87	OR9G1_HUMAN	P	121	ENSP00000309012:R121P	ENSP00000309012:R121P	R	+	2	0	OR9G1	56224801	0.996000	0.38824	0.684000	0.30055	0.041000	0.13682	2.226000	0.42963	0.004000	0.14682	-0.203000	0.12734	CGC		PASS	0.527	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		19	116	19	116	---	---	---	---
P2RX3	5024	broad.mit.edu	37	11	57114588	57114588	+	Splice_Site	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:57114588A>G	ENST00000263314.2	+	3	289		c.e3-1			NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3						behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.?(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TCTCCTCCCAAGGGCACCTCG	0.483																																						uc001nju.2																			1	Unknown(1)		lung(1)		0						c.e3-2		purinergic receptor P2X3							98.0	77.0	84.0					11																	57114588		2201	4296	6497	SO:0001630	splice_region_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57114588A>G	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.256-1A>G	11.37:g.57114588A>G							p.G86_splice	NM_002559	NP_002550	P56373	P2RX3_HUMAN			3	332	+								Q6DK37|Q9UQB6	Splice_Site	SNP	ENST00000263314.2	37	c.256_splice	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.573583	0.45902	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7046	0.57054	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	P2RX3	56871164	1.000000	0.71417	0.992000	0.48379	0.486000	0.33341	7.428000	0.80296	2.044000	0.60594	0.459000	0.35465	.		PASS	0.483	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559	Intron	3	36	3	36	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183135	60183135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:60183135G>T	ENST00000300187.6	+	5	971	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	MS4A14_ENST00000395005.2_Nonsense_Mutation_p.E215*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.E265*|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.E120*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	232						integral component of membrane (GO:0016021)		p.E232*(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGTGCCAGATGAACAAAAGCA	0.398																																						uc001npj.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(694-696)GAA>TAA		membrane-spanning 4-domains, subfamily A, member							90.0	90.0	90.0					11																	60183135		2203	4300	6503	SO:0001587	stop_gained	84689					integral to membrane	receptor activity	g.chr11:60183135G>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.694G>T	11.37:g.60183135G>T	ENSP00000300187:p.Glu232*					MS4A14_uc001npi.2_Nonsense_Mutation_p.E120*|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Nonsense_Mutation_p.E215*|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.E232*	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1259	+			232					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Nonsense_Mutation	SNP	ENST00000300187.6	37	c.694G>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071933	0.55646	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	.	.	.	3.63	2.72	0.32119	.	4.142490	0.00447	N	0.000084	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.6391	7.0819	0.25235	0.1231:0.0:0.8769:0.0	.	.	.	.	X	120;232;215;265	.	ENSP00000300187:E232X	E	+	1	0	MS4A14	59939711	0.062000	0.20869	0.006000	0.13384	0.024000	0.10985	3.477000	0.53151	1.100000	0.41517	0.650000	0.86243	GAA		PASS	0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			33	47	33	47	---	---	---	---
MS4A8	83661	broad.mit.edu	37	11	60482507	60482507	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:60482507C>T	ENST00000300226.2	+	6	751	c.548C>T	c.(547-549)gCg>gTg	p.A183V		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	183						integral component of membrane (GO:0016021)		p.A183V(1)									CCTGGAATGGCGATTTCTGGC	0.577																																						uc001npv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)GCG>GTG		membrane-spanning 4-domains, subfamily A, member							141.0	101.0	114.0					11																	60482507		2203	4300	6503	SO:0001583	missense	83661					integral to membrane	receptor activity	g.chr11:60482507C>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.548C>T	11.37:g.60482507C>T	ENSP00000300226:p.Ala183Val						p.A183V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			6	751	+			183			Helical; (Potential).		Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.548C>T	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725821	0.30593	.	.	ENSG00000166959	ENST00000300226	T	0.02656	4.21	4.49	-1.02	0.10135	.	1.403800	0.04599	N	0.398155	T	0.02342	0.0072	L	0.33485	1.01	0.09310	N	1	P	0.49635	0.926	B	0.37550	0.253	T	0.44817	-0.9303	10	0.33940	T	0.23	-2.7186	4.2433	0.10660	0.0:0.3946:0.1862:0.4191	.	183	Q9BY19	M4A8B_HUMAN	V	183	ENSP00000300226:A183V	ENSP00000300226:A183V	A	+	2	0	MS4A8B	60239083	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	-0.045000	0.13468	-0.140000	0.14226	GCG		PASS	0.577	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			11	79	11	79	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62766531	62766531	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:62766531G>T	ENST00000336232.2	-	5	758	c.623C>A	c.(622-624)gCc>gAc	p.A208D	SLC22A8_ENST00000535878.1_Missense_Mutation_p.A85D|SLC22A8_ENST00000545207.1_Missense_Mutation_p.A117D|SLC22A8_ENST00000311438.8_Missense_Mutation_p.A208D|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Missense_Mutation_p.A208D	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	208					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.A208D(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CGACATGATGGCCCGCATCCG	0.607																																						uc001nwo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(622-624)GCC>GAC		solute carrier family 22 member 8							102.0	91.0	94.0					11																	62766531		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62766531G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.623C>A	11.37:g.62766531G>T	ENSP00000337335:p.Ala208Asp					SLC22A8_uc001nwn.1_5'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.A208D|SLC22A8_uc009yom.2_Missense_Mutation_p.A85D|SLC22A8_uc010rmm.1_Missense_Mutation_p.A117D|SLC22A8_uc009yon.2_Missense_Mutation_p.A208D	p.A208D	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			5	759	-			208			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.623C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070040	0.76301	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054773	0.64402	D	0.000001	D	0.86957	0.6058	M	0.85373	2.75	0.46203	D	0.998926	D;D	0.63046	0.99;0.992	D;D	0.72982	0.965;0.979	D	0.89056	0.3459	10	0.66056	D	0.02	.	15.3885	0.74723	0.0:0.0:1.0:0.0	.	208;208	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	D	208;194;117;85;208;208	ENSP00000337335:A208D;ENSP00000441658:A117D;ENSP00000443368:A85D;ENSP00000311463:A208D;ENSP00000398548:A208D	ENSP00000311463:A208D	A	-	2	0	SLC22A8	62523107	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	6.441000	0.73439	2.229000	0.72834	0.505000	0.49811	GCC		PASS	0.607	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		24	44	24	44	---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65767038	65767038	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:65767038C>A	ENST00000312234.2	-	4	639	c.305G>T	c.(304-306)tGg>tTg	p.W102L	EIF1AD_ENST00000533544.1_Splice_Site_p.W102L|BANF1_ENST00000445560.2_5'Flank|EIF1AD_ENST00000529964.1_Splice_Site_p.W102L|EIF1AD_ENST00000527249.1_Splice_Site_p.W102L|EIF1AD_ENST00000525767.1_Splice_Site_p.W50L|BANF1_ENST00000312175.2_5'Flank|EIF1AD_ENST00000526451.1_Splice_Site_p.W102L	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	102						intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)	p.W102L(1)		lung(5)	5						GACCACCTACCAAAACCCCTC	0.537																																						uc001ogm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)TGG>TTG		eukaryotic translation initiation factor 1A							95.0	87.0	90.0					11																	65767038		2201	4296	6497	SO:0001630	splice_region_variant	84285					nucleus	translation initiation factor activity	g.chr11:65767038C>A	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.305+1G>T	11.37:g.65767038C>A						EIF1AD_uc001ogn.1_Missense_Mutation_p.W102L|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	p.W102L	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN			4	590	-			102					B2R4N5|Q9BSC1	Missense_Mutation	SNP	ENST00000312234.2	37	c.305G>T	CCDS8124.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799338	0.70567	.	.	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000525767;ENST00000529964;ENST00000533544;ENST00000527249;ENST00000530462;ENST00000532707	T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.3	5.3	0.74995	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63377	-0.6651	9	.	.	.	.	16.4489	0.83973	0.0:1.0:0.0:0.0	.	102	Q8N9N8	EIF1A_HUMAN	L	102;102;50;102;102;102;102;102	ENSP00000436644:W102L;ENSP00000309175:W102L;ENSP00000434796:W50L;ENSP00000435942:W102L;ENSP00000434056:W102L;ENSP00000435439:W102L;ENSP00000435891:W102L;ENSP00000433320:W102L	.	W	-	2	0	EIF1AD	65523614	1.000000	0.71417	0.991000	0.47740	0.101000	0.19017	6.646000	0.74348	2.484000	0.83849	0.555000	0.69702	TGG		PASS	0.537	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325	Missense_Mutation	7	62	7	62	---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411341	66411341	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:66411341C>T	ENST00000409406.1	+	2	1610	c.833C>T	c.(832-834)cCg>cTg	p.P278L	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.P278L|RBM4_ENST00000503028.2_Missense_Mutation_p.P278L|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.P253L|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Missense_Mutation_p.P253L|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.P278L			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	278	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P278L(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CACCTGTTGCCGACCTCAGGA	0.607																																						uc009yrj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)CCG>CTG		RNA binding motif protein 4							35.0	39.0	38.0					11																	66411341		1981	4155	6136	SO:0001583	missense	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66411341C>T	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.833C>T	11.37:g.66411341C>T	ENSP00000386894:p.Pro278Leu					RBM4_uc009yrk.2_Missense_Mutation_p.P253L|RBM4_uc001oiw.1_Missense_Mutation_p.P278L|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.P278L|RBM4_uc001oiz.1_Missense_Mutation_p.P278L	p.P278L	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	1321	+			278			Interaction with TNPO3.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.833C>T	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719685	0.68844	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000510173;ENST00000409406	T;T;T;T;T;T	0.61859	0.07;1.47;1.47;1.47;1.67;1.47	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.66519	0.2797	M	0.62723	1.935	0.53688	D	0.999973	D;B	0.65815	0.995;0.384	P;B	0.55508	0.777;0.078	T	0.64453	-0.6404	10	0.37606	T	0.19	-4.9968	13.3175	0.60415	0.0:0.8416:0.1584:0.0	.	253;278	B0LM41;Q9BWF3	.;RBM4_HUMAN	L	253;278;278;278;278;168;278	ENSP00000388552:P253L;ENSP00000425760:P278L;ENSP00000309166:P278L;ENSP00000386561:P278L;ENSP00000422301:P168L;ENSP00000386894:P278L	ENSP00000388552:P253L	P	+	2	0	RBM4;RBM14-RBM4	66167917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.960000	0.49161	2.780000	0.95670	0.655000	0.94253	CCG		PASS	0.607	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		4	39	4	39	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68838835	68838835	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:68838835C>T	ENST00000294309.3	+	10	1008	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	TPCN2_ENST00000542467.1_Silent_p.L303L|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	303					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.L303L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGCCTGTTTCTGATGAACCT	0.612																																						uc001oos.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(907-909)CTG>TTG		two pore segment channel 2							107.0	93.0	98.0					11																	68838835		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68838835C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.907C>T	11.37:g.68838835C>T						TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Silent_p.L218L|TPCN2_uc010rqg.1_Silent_p.L303L|TPCN2_uc001oot.2_5'Flank	p.L303L	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		10	1023	+			303			Helical; Name=S6 of repeat I; (Potential).		Q9NT82	Silent	SNP	ENST00000294309.3	37	c.907C>T	CCDS8189.1																																																																																				PASS	0.612	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	17	4	17	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70176310	70176310	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:70176310G>T	ENST00000253925.7	+	8	1177	c.962G>T	c.(961-963)aGa>aTa	p.R321I	AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R321I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	321					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R321I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ATGGAAGAGAGAATCACTACT	0.378																																						uc001opo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(961-963)AGA>ATA		PTPRF interacting protein alpha 1 isoform b							86.0	85.0	85.0					11																	70176310		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70176310G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.962G>T	11.37:g.70176310G>T	ENSP00000253925:p.Arg321Ile					PPFIA1_uc001opn.1_Missense_Mutation_p.R321I|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.R321I	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		8	1160	+			321			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.962G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240353	0.95240	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	D;D	0.84516	-1.86;-1.86	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	M	0.89214	3.015	0.80722	D	1	D;D	0.65815	0.982;0.995	D;D	0.69654	0.924;0.965	D	0.94611	0.7804	10	0.87932	D	0	.	18.7397	0.91769	0.0:0.0:1.0:0.0	.	321;321	Q13136;Q13136-2	LIPA1_HUMAN;.	I	321	ENSP00000253925:R321I;ENSP00000374198:R321I	ENSP00000253925:R321I	R	+	2	0	PPFIA1	69853958	1.000000	0.71417	0.915000	0.36163	0.985000	0.73830	9.633000	0.98432	2.422000	0.82143	0.655000	0.94253	AGA		PASS	0.378	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		14	48	14	48	---	---	---	---
OR2AT4	341152	broad.mit.edu	37	11	74800671	74800671	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:74800671G>A	ENST00000305159.3	-	1	128	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L30F(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AACACAGGGAGGAAGAAGGTC	0.532																																						uc010rro.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(88-90)CTC>TTC		olfactory receptor, family 2, subfamily AT,							68.0	69.0	69.0					11																	74800671		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800671G>A	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.88C>T	11.37:g.74800671G>A	ENSP00000304846:p.Leu30Phe						p.L30F	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			1	88	-			30			Extracellular (Potential).		B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.88C>T	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707811	0.30322	.	.	ENSG00000171561	ENST00000305159	T	0.08896	3.04	5.14	3.25	0.37280	.	0.000000	0.30437	U	0.009621	T	0.04588	0.0125	N	0.08118	0	0.09310	N	0.999995	B	0.22541	0.071	B	0.22152	0.038	T	0.34304	-0.9834	10	0.72032	D	0.01	.	8.87	0.35309	0.1812:0.0:0.8188:0.0	.	30	A6NND4	O2AT4_HUMAN	F	30	ENSP00000304846:L30F	ENSP00000304846:L30F	L	-	1	0	OR2AT4	74478319	1.000000	0.71417	0.914000	0.36105	0.810000	0.45777	2.412000	0.44609	1.316000	0.45131	0.561000	0.74099	CTC		PASS	0.532	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		17	26	17	26	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76257279	76257279	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:76257279A>T	ENST00000529032.1	+	19	3712	c.3712A>T	c.(3712-3714)Atg>Ttg	p.M1238L	C11orf30_ENST00000524767.1_Missense_Mutation_p.M1253L|C11orf30_ENST00000533248.1_Missense_Mutation_p.M1147L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Missense_Mutation_p.M1140L|C11orf30_ENST00000525038.1_Missense_Mutation_p.M1239L|C11orf30_ENST00000525919.1_Missense_Mutation_p.M1239L|C11orf30_ENST00000334736.3_Missense_Mutation_p.M1238L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1238					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.M1238L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGGCCAGTTCATGCGTATTCA	0.448																																						uc001oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3712-3714)ATG>TTG		EMSY protein							70.0	71.0	71.0					11																	76257279		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257279A>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3712A>T	11.37:g.76257279A>T	ENSP00000432327:p.Met1238Leu					C11orf30_uc001oxm.2_Missense_Mutation_p.M1140L|C11orf30_uc010rsb.1_Missense_Mutation_p.M1253L|C11orf30_uc010rsc.1_Missense_Mutation_p.M1239L|C11orf30_uc001oxn.2_Missense_Mutation_p.M1239L|C11orf30_uc010rsd.1_Missense_Mutation_p.M1147L|C11orf30_uc010rse.1_Missense_Mutation_p.M485L|C11orf30_uc001oxp.2_Intron	p.M1238L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			20	3855	+			1238					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3712A>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086722	0.55861	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	4.94	0.65067	.	0.368895	0.32231	N	0.006392	T	0.36552	0.0971	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B	0.12630	0.006;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.11329	0.006;0.0;0.0;0.0;0.0;0.0	T	0.13872	-1.0493	9	0.45353	T	0.12	-5.5046	10.5378	0.45016	0.8673:0.0:0.1327:0.0	.	1147;1239;1253;1239;1140;1238	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	L	1140;1238;920;1253;1147;1239;1239;1238	.	ENSP00000334130:M1238L	M	+	1	0	C11orf30	75934927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.242000	0.43106	1.125000	0.41998	0.528000	0.53228	ATG		PASS	0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		5	42	5	42	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76257281	76257281	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:76257281G>T	ENST00000529032.1	+	19	3714	c.3714G>T	c.(3712-3714)atG>atT	p.M1238I	C11orf30_ENST00000524767.1_Missense_Mutation_p.M1253I|C11orf30_ENST00000533248.1_Missense_Mutation_p.M1147I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Missense_Mutation_p.M1140I|C11orf30_ENST00000525038.1_Missense_Mutation_p.M1239I|C11orf30_ENST00000525919.1_Missense_Mutation_p.M1239I|C11orf30_ENST00000334736.3_Missense_Mutation_p.M1238I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1238					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.M1238I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCCAGTTCATGCGTATTCAGA	0.448																																						uc001oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3712-3714)ATG>ATT		EMSY protein							69.0	70.0	70.0					11																	76257281		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257281G>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3714G>T	11.37:g.76257281G>T	ENSP00000432327:p.Met1238Ile					C11orf30_uc001oxm.2_Missense_Mutation_p.M1140I|C11orf30_uc010rsb.1_Missense_Mutation_p.M1253I|C11orf30_uc010rsc.1_Missense_Mutation_p.M1239I|C11orf30_uc001oxn.2_Missense_Mutation_p.M1239I|C11orf30_uc010rsd.1_Missense_Mutation_p.M1147I|C11orf30_uc010rse.1_Missense_Mutation_p.M485I|C11orf30_uc001oxp.2_Intron	p.M1238I	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			20	3857	+			1238					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3714G>T	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.06|16.06	3.015531|3.015531	0.54468|0.54468	.|.	.|.	ENSG00000158636|ENSG00000158636	ENST00000531793|ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.|.	.|.	.|.	6.06|6.06	3.96|3.96	0.45880|0.45880	.|.	.|0.368895	.|0.32231	.|N	.|0.006392	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.12630	.|0.006;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.06405	.|0.002;0.0;0.0;0.0;0.0;0.0	T|T	0.17471|0.17471	-1.0368|-1.0368	5|9	.|0.41790	.|T	.|0.15	-5.5046|-5.5046	2.5408|2.5408	0.04725|0.04725	0.1144:0.3382:0.3702:0.1771|0.1144:0.3382:0.3702:0.1771	.|.	.|1147;1239;1253;1239;1140;1238	.|B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.|.;.;.;.;.;EMSY_HUMAN	F|I	97|1140;1238;920;1253;1147;1239;1239;1238	.|.	.|ENSP00000334130:M1238I	C|M	+|+	2|3	0|0	C11orf30|C11orf30	75934929|75934929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.357000|1.357000	0.34090|0.34090	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	TGC|ATG		PASS	0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		3	44	3	44	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76372296	76372296	+	Missense_Mutation	SNP	G	G	T	rs201131944	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:76372296G>T	ENST00000407242.2	-	3	583	c.341C>A	c.(340-342)gCg>gAg	p.A114E	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.A114E|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114E	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	114					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.A114E(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCACTCAGCGCAGTGGCCAT	0.677																																						uc001oxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GCG>GAG		leucine rich repeat containing 32 precursor							38.0	40.0	39.0					11																	76372296		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372296G>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.341C>A	11.37:g.76372296G>T	ENSP00000384126:p.Ala114Glu					LRRC32_uc001oxr.3_Missense_Mutation_p.A114E|LRRC32_uc010rsf.1_Missense_Mutation_p.A114E	p.A114E	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	584	-			114			LRR 3.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.341C>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958518	0.00465	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.78816	-1.21;-1.21;-1.21;4.31	4.13	1.05	0.20165	.	0.921991	0.09294	N	0.821898	T	0.56140	0.1965	N	0.11427	0.14	0.09310	N	1	P;B	0.39216	0.664;0.111	B;B	0.40199	0.322;0.029	T	0.42816	-0.9429	10	0.02654	T	1	.	9.0178	0.36182	0.2592:0.0:0.7408:0.0	.	114;114	C9JYU3;Q14392	.;LRC32_HUMAN	E	114	ENSP00000260061:A114E;ENSP00000384126:A114E;ENSP00000385766:A114E;ENSP00000413331:A114E	ENSP00000260061:A114E	A	-	2	0	LRRC32	76049944	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.520000	0.22878	0.028000	0.15324	-0.254000	0.11334	GCG		PASS	0.677	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		12	31	12	31	---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76507479	76507479	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:76507479G>T	ENST00000527881.1	+	2	1845	c.819G>T	c.(817-819)gaG>gaT	p.E273D	TSKU_ENST00000333090.4_Missense_Mutation_p.E273D			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	273					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)		p.E273D(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CAGGAGCTGAGGTGTTTTCAG	0.662																																						uc001oxt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GAG>GAT		tsukushin precursor							51.0	51.0	51.0					11																	76507479		2200	4292	6492	SO:0001583	missense	25987					extracellular region		g.chr11:76507479G>T	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.819G>T	11.37:g.76507479G>T	ENSP00000434847:p.Glu273Asp						p.E273D	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	991	+	Ovarian(111;0.112)		273			LRR 9.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.819G>T	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	G	8.937	0.964957	0.18583	.	.	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.04654	3.58;3.58	4.64	4.64	0.57946	.	0.187003	0.49305	D	0.000145	T	0.02193	0.0068	N	0.04746	-0.17	0.36028	D	0.83921	B	0.26147	0.143	B	0.27262	0.078	T	0.43988	-0.9357	10	0.08179	T	0.78	-14.6004	7.0388	0.25008	0.0943:0.1771:0.7286:0.0	.	273	Q8WUA8	TSK_HUMAN	D	273;241;273	ENSP00000332668:E273D;ENSP00000434847:E273D	ENSP00000332668:E273D	E	+	3	2	TSKU	76185127	1.000000	0.71417	0.961000	0.40146	0.894000	0.52154	1.118000	0.31246	2.289000	0.77006	0.561000	0.74099	GAG		PASS	0.662	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		28	40	28	40	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92258043	92258043	+	Missense_Mutation	SNP	C	C	A	rs370778887		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:92258043C>A	ENST00000298047.6	+	2	3553	c.3536C>A	c.(3535-3537)tCc>tAc	p.S1179Y	FAT3_ENST00000409404.2_Missense_Mutation_p.S1179Y|FAT3_ENST00000541502.1_Missense_Mutation_p.S1179Y|FAT3_ENST00000525166.1_Missense_Mutation_p.S1029Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1179	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1179Y(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTCCAGTTCCAATGAAAAA	0.388										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(3535-3537)TCC>TAC		FAT tumor suppressor homolog 3		C	TYR/SER	0,3782		0,0,1891	49.0	49.0	49.0		3536	5.7	1.0	11		49	1,8257		0,1,4128	no	missense	FAT3	NM_001008781.2	144	0,1,6019	AA,AC,CC		0.0121,0.0,0.0083	possibly-damaging	1179/4558	92258043	1,12039	1891	4129	6020	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92258043C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3536C>A	11.37:g.92258043C>A	ENSP00000298047:p.Ser1179Tyr	TCGA Ovarian(4;0.039)					p.S1179Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			2	3553	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1179			Cadherin 11.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3536C>A		.	.	.	.	.	.	.	.	.	.	C	27.0	4.790100	0.90367	0.0	1.21E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.66	5.66	0.87406	.	.	.	.	.	T	0.55000	0.1893	M	0.70108	2.13	0.46609	D	0.999122	P	0.50528	0.936	B	0.43783	0.431	T	0.61964	-0.6954	9	0.66056	D	0.02	.	19.7532	0.96277	0.0:1.0:0.0:0.0	.	1179	Q8TDW7-3	.	Y	1179;1179;1179;1029	ENSP00000298047:S1179Y;ENSP00000387040:S1179Y;ENSP00000443786:S1179Y;ENSP00000432586:S1029Y	ENSP00000298047:S1179Y	S	+	2	0	FAT3	91897691	0.936000	0.31750	1.000000	0.80357	0.971000	0.66376	3.410000	0.52664	2.682000	0.91365	0.650000	0.86243	TCC		PASS	0.388	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	13	11	13	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92532911	92532911	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:92532911C>G	ENST00000298047.6	+	9	6749	c.6732C>G	c.(6730-6732)agC>agG	p.S2244R	FAT3_ENST00000409404.2_Missense_Mutation_p.S2244R|FAT3_ENST00000525166.1_Missense_Mutation_p.S2094R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2244	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2244R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGTTGTTAGCCCTTTGGATT	0.443										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6730-6732)AGC>AGG		FAT tumor suppressor homolog 3							65.0	60.0	62.0					11																	92532911		1904	4123	6027	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532911C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6732C>G	11.37:g.92532911C>G	ENSP00000298047:p.Ser2244Arg	TCGA Ovarian(4;0.039)					p.S2244R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6749	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2244			Cadherin 20.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6732C>G		.	.	.	.	.	.	.	.	.	.	C	8.622	0.891717	0.17613	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50001	0.76;0.76;0.76	5.94	1.71	0.24356	.	.	.	.	.	T	0.27967	0.0689	N	0.12182	0.205	0.80722	D	1	P	0.49090	0.919	P	0.46076	0.503	T	0.04178	-1.0971	9	0.09590	T	0.72	.	8.9302	0.35666	0.0:0.5818:0.0:0.4182	.	2244	Q8TDW7-3	.	R	2244;2244;2094	ENSP00000298047:S2244R;ENSP00000387040:S2244R;ENSP00000432586:S2094R	ENSP00000298047:S2244R	S	+	3	2	FAT3	92172559	0.850000	0.29656	0.996000	0.52242	0.997000	0.91878	-0.024000	0.12435	0.290000	0.22444	0.650000	0.86243	AGC		PASS	0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	6	3	6	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102592148	102592148	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:102592148C>G	ENST00000236826.3	-	4	704	c.606G>C	c.(604-606)tgG>tgC	p.W202C		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	202					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.W202C(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGGTGTTGGTCCATGTTTCTT	0.423																																						uc001phe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(604-606)TGG>TGC		matrix metalloproteinase 8 preproprotein							163.0	141.0	148.0					11																	102592148		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102592148C>G	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.606G>C	11.37:g.102592148C>G	ENSP00000236826:p.Trp202Cys					MMP8_uc010rut.1_Missense_Mutation_p.W137C|MMP8_uc010ruu.1_Missense_Mutation_p.W179C	p.W202C	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	4	705	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	202					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.606G>C	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.283884|2.283884	0.40394|0.40394	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383;ENST00000534942	.|T	.|0.40756	.|1.02	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	.|0.000000	.|0.56097	.|D	.|0.000031	T|T	0.79569|0.79569	0.4468|0.4468	H|H	0.98238|0.98238	4.18|4.18	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;0.999;1.0	D|D	0.86805|0.86805	0.1994|0.1994	5|10	.|0.87932	.|D	.|0	.|.	19.9598|19.9598	0.97242|0.97242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|202;137;202	.|A8K9E4;F5GXB5;P22894	.|.;.;MMP8_HUMAN	H|C	178|202;179;137	.|ENSP00000236826:W202C	.|ENSP00000236826:W202C	D|W	-|-	1|3	0|0	MMP8|MMP8	102097358|102097358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.210000|0.210000	0.24377|0.24377	1.610000|1.610000	0.36869|0.36869	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GAC|TGG		PASS	0.423	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		10	38	10	38	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108057295	108057295	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:108057295C>A	ENST00000278612.8	-	8	745	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	214	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E214*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTCTGAGATTCACTGAAACAC	0.318																																						uc001pjz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(640-642)GAA>TAA		nuclear protein,  ataxia-telangiectasia locus							100.0	92.0	95.0					11																	108057295		1805	4069	5874	SO:0001630	splice_region_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108057295C>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.639-1G>T	11.37:g.108057295C>A						NPAT_uc001pka.2_Nonsense_Mutation_p.E9*	p.E214*	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	8	742	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	214			Interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Nonsense_Mutation	SNP	ENST00000278612.8	37	c.640G>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686462	0.96784	.	.	ENSG00000149308	ENST00000278612	.	.	.	5.55	5.55	0.83447	.	0.310059	0.39146	N	0.001444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.6695	16.219	0.82244	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	ENSP00000278612:E214X	E	-	1	0	NPAT	107562505	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.238000	0.58688	2.611000	0.88343	0.655000	0.94253	GAA		PASS	0.318	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	Nonsense_Mutation	21	37	21	37	---	---	---	---
ANKK1	255239	broad.mit.edu	37	11	113266824	113266824	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:113266824G>T	ENST00000303941.3	+	5	812	c.718G>T	c.(718-720)Gca>Tca	p.A240S		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A240S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCGAGTGGCGGCAGGCATGCG	0.597																																						uc001pny.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|ovary(1)|breast(1)	8						c.(718-720)GCA>TCA		ankyrin repeat and kinase domain containing 1							61.0	65.0	64.0					11																	113266824		2025	4166	6191	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266824G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.718G>T	11.37:g.113266824G>T	ENSP00000306678:p.Ala240Ser						p.A240S	NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	812	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	240			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.718G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	9.915	1.210657	0.22289	.	.	ENSG00000170209	ENST00000303941	D	0.82255	-1.59	4.44	-1.92	0.07618	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.264447	0.25094	U	0.033198	T	0.60064	0.2240	N	0.10645	0.015	0.09310	N	1	P	0.35363	0.497	B	0.36335	0.222	T	0.59005	-0.7535	10	0.10902	T	0.67	0.0429	9.4265	0.38583	0.4566:0.0:0.5434:0.0	.	240	Q8NFD2	ANKK1_HUMAN	S	240	ENSP00000306678:A240S	ENSP00000306678:A240S	A	+	1	0	ANKK1	112772034	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.185000	0.16958	-0.650000	0.05423	-0.379000	0.06801	GCA		PASS	0.597	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		11	27	11	27	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119031262	119031262	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:119031262G>A	ENST00000449422.2	+	14	1799	c.1611G>A	c.(1609-1611)gtG>gtA	p.V537V	ABCG4_ENST00000531739.1_Silent_p.V537V|ABCG4_ENST00000307417.3_Silent_p.V537V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	537	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V537V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCACTTTTGTGGGCCCAGTTA	0.567																																						uc001pvs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1609-1611)GTG>GTA		ATP-binding cassette, subfamily G, member 4							217.0	208.0	211.0					11																	119031262		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031262G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1611G>A	11.37:g.119031262G>A						ABCG4_uc009zar.2_Silent_p.V537V	p.V537V	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	14	1947	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	537			ABC transmembrane type-2.|Helical; Name=5; (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1611G>A	CCDS8415.1																																																																																				PASS	0.567	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		77	141	77	141	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124412845	124412845	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:124412845C>T	ENST00000306842.2	-	1	730	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A236T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTACTAAAGGCTTTGGACCTG	0.453																																						uc010sam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(706-708)GCC>ACC		olfactory receptor, family 8, subfamily B,							90.0	82.0	85.0					11																	124412845		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412845C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.706G>A	11.37:g.124412845C>T	ENSP00000307159:p.Ala236Thr						p.A236T	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	706	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	236			Cytoplasmic (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.706G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355304	0.61293	.	.	ENSG00000170953	ENST00000306842	T	0.00357	7.89	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00754	0.0025	M	0.75264	2.295	0.47819	D	0.999521	D	0.69078	0.997	D	0.68765	0.96	T	0.76984	-0.2756	10	0.87932	D	0	.	15.8263	0.78709	0.0:1.0:0.0:0.0	.	236	Q8NGG6	OR8BC_HUMAN	T	236	ENSP00000307159:A236T	ENSP00000307159:A236T	A	-	1	0	OR8B12	123918055	1.000000	0.71417	0.989000	0.46669	0.156000	0.22039	5.477000	0.66799	2.457000	0.83068	0.650000	0.86243	GCC		PASS	0.453	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			3	19	3	19	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124829068	124829068	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:124829068G>A	ENST00000344762.5	+	3	494	c.235G>A	c.(235-237)Gct>Act	p.A79T	CCDC15_ENST00000529051.1_Missense_Mutation_p.A79T	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	79						centrosome (GO:0005813)		p.A79T(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAAACAAGAAGCTTTGAAACA	0.299																																						uc001qbm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(235-237)GCT>ACT		coiled-coil domain containing 15							51.0	45.0	47.0					11																	124829068		1793	4056	5849	SO:0001583	missense	80071					centrosome		g.chr11:124829068G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.235G>A	11.37:g.124829068G>A	ENSP00000341684:p.Ala79Thr						p.A79T	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	3	494	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	79			Potential.		Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.235G>A	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325930	0.60743	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.38887	1.11;1.11	5.18	2.19	0.27852	.	0.445154	0.23405	N	0.048539	T	0.27629	0.0679	L	0.41236	1.265	0.20821	N	0.999842	P	0.38597	0.639	B	0.38712	0.28	T	0.17776	-1.0358	10	0.48119	T	0.1	-6.3309	0.7964	0.01067	0.2532:0.1648:0.3993:0.1828	.	79	Q0P6D6	CCD15_HUMAN	T	79	ENSP00000435403:A79T;ENSP00000341684:A79T	ENSP00000341684:A79T	A	+	1	0	CCDC15	124334278	0.990000	0.36364	0.997000	0.53966	0.962000	0.63368	0.463000	0.21972	0.517000	0.28361	0.655000	0.94253	GCT		PASS	0.299	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		4	6	4	6	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	464404	464404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:464404G>A	ENST00000399788.2	-	7	1152	c.790C>T	c.(790-792)Cga>Tga	p.R264*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.R264*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	264					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R264*(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTCGTCTTCGGGTGACCTCA	0.353			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(790-792)CGA>TGA		retinoblastoma binding protein 2 isoform 1							113.0	106.0	108.0					12																	464404		1860	4094	5954	SO:0001587	stop_gained	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:464404G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.790C>T	12.37:g.464404G>A	ENSP00000382688:p.Arg264*					KDM5A_uc001qie.1_Nonsense_Mutation_p.R264*|KDM5A_uc010sdn.1_Nonsense_Mutation_p.R223*|KDM5A_uc010sdo.1_Intron	p.R264*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			7	1153	-			264					A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	c.790C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	40	8.408506	0.98799	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	.	.	.	5.49	4.59	0.56863	.	0.573901	0.18355	N	0.143767	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.5855	13.7371	0.62824	0.0:0.0:0.7196:0.2804	.	.	.	.	X	223;264;264	.	ENSP00000372265:R264X	R	-	1	2	KDM5A	334665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.808000	0.47963	1.460000	0.47911	-0.326000	0.08463	CGA		PASS	0.353	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		10	78	10	78	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	862973	862973	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:862973G>C	ENST00000315939.6	+	1	885	c.242G>C	c.(241-243)cGc>cCc	p.R81P	WNK1_ENST00000447667.2_Missense_Mutation_p.R81P|WNK1_ENST00000530271.2_Missense_Mutation_p.R81P|WNK1_ENST00000535572.1_Missense_Mutation_p.R81P|WNK1_ENST00000537687.1_Missense_Mutation_p.R81P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	81					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.R81P(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CGCTTCTTCCGCCGGAGCGTC	0.672																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(241-243)CGC>CCC		WNK lysine deficient protein kinase 1							39.0	45.0	43.0					12																	862973		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:862973G>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.242G>C	12.37:g.862973G>C	ENSP00000313059:p.Arg81Pro					WNK1_uc001qin.2_Missense_Mutation_p.R81P|WNK1_uc001qip.3_Missense_Mutation_p.R81P	p.R81P	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	749	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		81					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.242G>C	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368932	0.82463	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.74737	-0.6;-0.64;-0.56;-0.87;-0.6	4.42	3.52	0.40303	.	0.000000	0.52532	D	0.000069	D	0.82737	0.5102	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;P;D	0.75484	0.955;0.902;0.986	D	0.84438	0.0581	10	0.87932	D	0	-5.0664	13.8103	0.63260	0.0:0.0:0.8457:0.1543	.	81;81;81	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	P	81	ENSP00000441972:R81P;ENSP00000313059:R81P;ENSP00000444465:R81P;ENSP00000392542:R81P;ENSP00000433548:R81P	ENSP00000313059:R81P	R	+	2	0	WNK1	733234	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.827000	0.75303	1.055000	0.40461	0.561000	0.74099	CGC		PASS	0.672	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		12	30	12	30	---	---	---	---
RHNO1	83695	broad.mit.edu	37	12	2997321	2997321	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:2997321G>T	ENST00000489288.2	+	3	565	c.413G>T	c.(412-414)gGg>gTg	p.G138V	TULP3_ENST00000397132.2_5'Flank|RHNO1_ENST00000464682.2_3'UTR|TULP3_ENST00000448120.2_5'Flank|RHNO1_ENST00000461997.2_Missense_Mutation_p.G124V	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	138					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)		p.G138V(1)									CAAAGCTGTGGGAACATGTCA	0.498																																						uc001qlh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GGG>GTG		RecName: Full=Uncharacterized protein C12orf32;							134.0	131.0	132.0					12																	2997321		2203	4300	6503	SO:0001583	missense	83695							g.chr12:2997321G>T	AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.413G>T	12.37:g.2997321G>T	ENSP00000438590:p.Gly138Val					TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'Flank|TULP3_uc010seg.1_5'Flank|TULP3_uc001qlj.2_5'Flank|TULP3_uc010seh.1_5'Flank|TULP3_uc010sei.1_5'Flank|C12orf32_uc010see.1_Missense_Mutation_p.G124V|C12orf32_uc001qli.2_5'UTR	p.G138V	NR_027363				OV - Ovarian serous cystadenocarcinoma(31;0.000622)		3	581	+								B7Z989	Missense_Mutation	SNP	ENST00000489288.2	37	c.413G>T	CCDS8518.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186022	0.38609	.	.	ENSG00000171792	ENST00000461997;ENST00000489288	.	.	.	5.21	1.38	0.22167	.	0.603697	0.17186	N	0.183697	T	0.49932	0.1586	.	.	.	0.09310	N	0.999996	D;D	0.55385	0.971;0.971	P;P	0.56042	0.79;0.79	T	0.39292	-0.9621	8	0.66056	D	0.02	4.9495	7.7021	0.28630	0.3377:0.0:0.6623:0.0	.	124;138	B7Z989;Q9BSD3	.;RHINO_HUMAN	V	124;138	.	ENSP00000438828:G124V	G	+	2	0	C12orf32	2867582	0.972000	0.33761	0.081000	0.20488	0.320000	0.28249	1.889000	0.39718	0.045000	0.15804	0.655000	0.94253	GGG		PASS	0.498	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351286.2	NM_031465		38	51	38	51	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6703658	6703658	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:6703658C>G	ENST00000357008.2	-	15	2443	c.2280G>C	c.(2278-2280)caG>caC	p.Q760H	CHD4_ENST00000544484.1_Missense_Mutation_p.Q757H|CHD4_ENST00000544040.1_Missense_Mutation_p.Q753H|CHD4_ENST00000309577.6_Missense_Mutation_p.Q760H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	760	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.Q760H(2)		central_nervous_system(2)	2						AGACTGCTGTCTGTACAGTTT	0.483																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(2278-2280)CAG>CAC		chromodomain helicase DNA binding protein 4							126.0	120.0	122.0					12																	6703658		2203	4300	6503	SO:0001583	missense	1108				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|zinc ion binding	g.chr12:6703658C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2280G>C	12.37:g.6703658C>G	ENSP00000349508:p.Gln760His					CHD4_uc001qpn.2_Missense_Mutation_p.Q753H|CHD4_uc001qpp.2_Missense_Mutation_p.Q757H	p.Q760H	NM_001273	NP_001264	Q14839	CHD4_HUMAN			15	2444	-			760			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2280G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192412	0.78902	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	5.17	3.36	0.38483	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	H	0.99582	4.64	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.994	D;D;D	0.91635	0.996;0.999;0.991	D	0.97582	1.0111	10	0.87932	D	0	.	11.4551	0.50176	0.0:0.8551:0.0:0.1449	.	760;760;753	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	757;753;760;760;734	ENSP00000440392:Q757H;ENSP00000440542:Q753H;ENSP00000312419:Q760H;ENSP00000349508:Q760H	ENSP00000312419:Q760H	Q	-	3	2	CHD4	6573919	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.811000	0.55620	0.766000	0.33244	0.591000	0.81541	CAG		PASS	0.483	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		17	41	17	41	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7647932	7647932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:7647932C>A	ENST00000359156.4	-	6	1367	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	CD163_ENST00000396620.3_Nonsense_Mutation_p.E389*|CD163_ENST00000432237.2_Nonsense_Mutation_p.E389*|CD163_ENST00000541972.1_Nonsense_Mutation_p.E377*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	389	SRCR 4. {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.E389*(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)	CTCTGAATCTCCACCTCAACT	0.493																																						uc001qsz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1165-1167)GAG>TAG		CD163 antigen isoform a							142.0	126.0	131.0					12																	7647932		2203	4300	6503	SO:0001587	stop_gained	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647932C>A	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.1165G>T	12.37:g.7647932C>A	ENSP00000352071:p.Glu389*					CD163_uc001qta.3_Nonsense_Mutation_p.E389*|CD163_uc009zfw.2_Nonsense_Mutation_p.E389*	p.E389*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			6	1293	-			389			SRCR 4.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	ENST00000359156.4	37	c.1165G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828423	0.96996	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.01	2.02	0.26589	.	0.372474	0.25071	N	0.033367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.7015	0.05149	0.1546:0.5613:0.1505:0.1336	.	.	.	.	X	389;377;389;389	.	ENSP00000352071:E389X	E	-	1	0	CD163	7539199	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.436000	0.06922	0.826000	0.34661	0.650000	0.86243	GAG		PASS	0.493	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		14	33	14	33	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8083956	8083956	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:8083956C>A	ENST00000075120.7	-	4	635	c.395G>T	c.(394-396)gGa>gTa	p.G132V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	132					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.G132V(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGTGCAGAGTCCGCAGAAGAG	0.537																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(394-396)GGA>GTA		solute carrier family 2 (facilitated glucose							105.0	98.0	100.0					12																	8083956		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083956C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.395G>T	12.37:g.8083956C>A	ENSP00000075120:p.Gly132Val					SLC2A3_uc001qts.2_Missense_Mutation_p.G132V	p.G132V	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	657	-			132			Helical; Name=4; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.395G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397023	0.83120	.	.	ENSG00000059804	ENST00000075120;ENST00000540978;ENST00000544291	D;D	0.92199	-2.99;-2.99	4.37	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98844	1.0756	10	0.87932	D	0	.	14.8038	0.69935	0.0:1.0:0.0:0.0	.	58;132	F5H2H8;P11169	.;GTR3_HUMAN	V	132;58;101	ENSP00000075120:G132V;ENSP00000440750:G101V	ENSP00000075120:G132V	G	-	2	0	SLC2A3	7975223	1.000000	0.71417	0.898000	0.35279	0.939000	0.58152	6.851000	0.75425	2.426000	0.82243	0.555000	0.69702	GGA		PASS	0.537	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		8	18	8	18	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21355512	21355512	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:21355512C>A	ENST00000256958.2	+	10	1319	c.1223C>A	c.(1222-1224)gCc>gAc	p.A408D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	408					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A408D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTTGGAATTGCCAAATTCTCA	0.333																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1222-1224)GCC>GAC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						86.0	81.0	82.0					12																	21355512		2203	4296	6499	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355512C>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1223C>A	12.37:g.21355512C>A	ENSP00000256958:p.Ala408Asp						p.A408D	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			10	1327	+			408			Helical; Name=9; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1223C>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088251	0.55968	.	.	ENSG00000134538	ENST00000256958	T	0.59502	0.26	2.96	2.96	0.34315	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.187557	0.46758	D	0.000276	T	0.77955	0.4208	M	0.91249	3.19	0.25121	N	0.990641	D	0.76494	0.999	D	0.74348	0.983	T	0.69727	-0.5067	10	0.87932	D	0	.	11.1799	0.48623	0.0:1.0:0.0:0.0	.	408	Q9Y6L6	SO1B1_HUMAN	D	408	ENSP00000256958:A408D	ENSP00000256958:A408D	A	+	2	0	SLCO1B1	21246779	0.456000	0.25744	0.459000	0.27081	0.141000	0.21300	1.190000	0.32126	1.633000	0.50488	0.305000	0.20034	GCC		PASS	0.333	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		13	28	13	28	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46240701	46240701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:46240701G>T	ENST00000334344.6	+	12	1733	c.1561G>T	c.(1561-1563)Gag>Tag	p.E521*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.E372*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E131*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	521					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.E521*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAGATAGTGAGAAGTTTGC	0.363			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1561-1563)GAG>TAG		AT rich interactive domain 2 (ARID, RFX-like)							164.0	167.0	166.0					12																	46240701		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46240701G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1561G>T	12.37:g.46240701G>T	ENSP00000335044:p.Glu521*					ARID2_uc001ror.2_Nonsense_Mutation_p.E521*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.E148*	p.E521*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	12	1561	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	521					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.1561G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	40	8.503311	0.98838	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.5925	19.1868	0.93647	0.0:0.0:1.0:0.0	.	.	.	.	X	521;372;131	.	ENSP00000335044:E521X	E	+	1	0	ARID2	44526968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.953000	0.93041	2.617000	0.88574	0.563000	0.77884	GAG		PASS	0.363	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		58	50	58	50	---	---	---	---
AQP5	362	broad.mit.edu	37	12	50355822	50355822	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:50355822G>T	ENST00000293599.6	+	1	170	c.22G>T	c.(22-24)Gtg>Ttg	p.V8L	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	8					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.V8L(1)		large_intestine(1)|lung(3)	4						GGTGTGCTCCGTGGCCTTCCT	0.706																																						uc001rvo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)GTG>TTG		aquaporin 5							52.0	37.0	42.0					12																	50355822		2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50355822G>T	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.22G>T	12.37:g.50355822G>T	ENSP00000293599:p.Val8Leu						p.V8L	NM_001651	NP_001642	P55064	AQP5_HUMAN			1	544	+			8			Cytoplasmic (Potential).		Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.22G>T	CCDS8793.1	.	.	.	.	.	.	.	.	.	.	G	6.436	0.448587	0.12223	.	.	ENSG00000161798	ENST00000293599	D	0.85629	-2.01	3.37	2.45	0.29901	Aquaporin-like (2);	1.979650	0.04211	N	0.331789	T	0.69540	0.3122	N	0.05467	-0.045	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57785	-0.7751	10	0.11182	T	0.66	6.3873	6.216	0.20656	0.0:0.2068:0.5807:0.2124	.	8	P55064	AQP5_HUMAN	L	8	ENSP00000293599:V8L	ENSP00000293599:V8L	V	+	1	0	AQP5	48642089	0.000000	0.05858	0.980000	0.43619	0.977000	0.68977	-0.639000	0.05446	0.717000	0.32145	0.462000	0.41574	GTG		PASS	0.706	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		11	12	11	12	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50472763	50472763	+	Splice_Site	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:50472763G>A	ENST00000447966.2	+	7	1280	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	ASIC1_ENST00000552438.1_Splice_Site_p.D385N|ASIC1_ENST00000228468.4_Splice_Site_p.D351N	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	351					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.D351N(1)								Amiloride(DB00594)|Diclofenac(DB00586)	TCCTGCTCTGGGTGAGCGCCC	0.577																																						uc001rvw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1051-1053)GAC>AAC		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)						123.0	123.0	123.0					12																	50472763		2203	4300	6503	SO:0001630	splice_region_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472763G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1051+1G>A	12.37:g.50472763G>A						ACCN2_uc001rvv.2_Missense_Mutation_p.D351N|ACCN2_uc009zln.2_Missense_Mutation_p.D142N|ACCN2_uc009zlo.2_Missense_Mutation_p.D351N	p.D351N	NM_001095	NP_001086	P78348	ACCN2_HUMAN			7	1280	+			351			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.1051G>A	CCDS44876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.261004|5.261004	0.95368|0.95368	.|.	.|.	ENSG00000110881|ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438|ENST00000453327	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	3.63|3.63	3.63|3.63	0.41609|0.41609	.|.	0.128887|.	0.48767|.	D|.	0.000167|.	T|.	0.75671|.	0.3881|.	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;B|.	0.41232|.	0.743;0.268|.	B;B|.	0.42798|.	0.398;0.26|.	T|.	0.78094|.	-0.2338|.	10|.	0.49607|.	T|.	0.09|.	-36.0689|-36.0689	16.1952|16.1952	0.82023|0.82023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	351;351|.	P78348;P78348-1|.	ACCN2_HUMAN;.|.	N|X	351;351;385|218	ENSP00000228468:D351N;ENSP00000400228:D351N;ENSP00000450247:D385N|.	ENSP00000228468:D351N|.	D|W	+|+	1|3	0|0	ACCN2|ACCN2	48759030|48759030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	7.728000|7.728000	0.84847|0.84847	2.331000|2.331000	0.79229|0.79229	0.462000|0.462000	0.41574|0.41574	GAC|TGG		PASS	0.577	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	Missense_Mutation	16	108	16	108	---	---	---	---
HIGD1C	613227	broad.mit.edu	37	12	51347861	51347861	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:51347861C>T	ENST00000398455.3	+	1	157	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN	HIG1 hypoxia inducible domain family, member 1C	27	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)		p.P27L(1)		lung(1)	1						AGAGACTCCCCCTTTGTCCCT	0.413																																						uc010smw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)CCC>CTC		HIG1 domain family, member 1C							108.0	106.0	106.0					12																	51347861		1870	4117	5987	SO:0001583	missense	613227					integral to membrane		g.chr12:51347861C>T	DQ029494	CCDS44882.1	12q13.12	2011-09-16	2009-03-17		ENSG00000214511	ENSG00000214511			28044	protein-coding gene	gene with protein product			"""HIG1 domain family, member 1C"""				Standard	NM_001109619		Approved	Gm921	uc010smw.2	A8MV81	OTTHUMG00000169488	ENST00000398455.3:c.80C>T	12.37:g.51347861C>T	ENSP00000381473:p.Pro27Leu						p.P27L	NM_001109619	NP_001103089	A8MV81	HIG1C_HUMAN			1	80	+			27			HIG1.|Helical; (Potential).			Missense_Mutation	SNP	ENST00000398455.3	37	c.80C>T	CCDS44882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129379	0.77549	.	.	ENSG00000214511	ENST00000398455	T	0.64438	-0.1	4.7	4.7	0.59300	Hypoxia induced protein, domain (2);	0.000000	0.64402	U	0.000004	T	0.80407	0.4617	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83518	0.0084	9	0.87932	D	0	-7.4466	17.2473	0.87031	0.0:1.0:0.0:0.0	.	27	A8MV81	HIG1C_HUMAN	L	27	ENSP00000381473:P27L	ENSP00000381473:P27L	P	+	2	0	HIGD1C	49634128	0.924000	0.31332	0.975000	0.42487	0.944000	0.59088	4.336000	0.59304	2.528000	0.85240	0.585000	0.79938	CCC		PASS	0.413	HIGD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404340.2	NM_001109619		20	33	20	33	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52913994	52913994	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:52913994G>A	ENST00000252242.4	-	1	477	c.87C>T	c.(85-87)cgC>cgT	p.R29R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	29	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.R29R(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGCTGGTGCGGGAGACAG	0.662																																						uc001san.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)CGC>CGT		keratin 5							27.0	36.0	33.0					12																	52913994		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913994G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.87C>T	12.37:g.52913994G>A						KRT5_uc009zmh.2_Silent_p.R29R	p.R29R	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	250	-			29			Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.87C>T	CCDS8830.1																																																																																				PASS	0.662	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			21	16	21	16	---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53044194	53044194	+	Silent	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:53044194G>C	ENST00000309680.3	-	2	750	c.729C>G	c.(727-729)ctC>ctG	p.L243L		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	243	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.L243L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTCTGCAGTGAGCCCATCCA	0.488																																						uc001sat.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(727-729)CTC>CTG		keratin 2							211.0	204.0	207.0					12																	53044194		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53044194G>C		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.729C>G	12.37:g.53044194G>C							p.L243L	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	2	762	-			243			Coil 1B.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.729C>G	CCDS8835.1																																																																																				PASS	0.488	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		40	72	40	72	---	---	---	---
OR6C76	390326	broad.mit.edu	37	12	55820349	55820349	+	Silent	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:55820349T>C	ENST00000328314.3	+	1	312	c.312T>C	c.(310-312)ctT>ctC	p.L104L		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L104L(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTATCTTCCTTGGCTCAACGG	0.408																																						uc010spm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(310-312)CTT>CTC		olfactory receptor, family 6, subfamily C,							122.0	135.0	131.0					12																	55820349		2203	4300	6503	SO:0001819	synonymous_variant	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820349T>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.312T>C	12.37:g.55820349T>C							p.L104L	NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN			1	312	+			104			Helical; Name=3; (Potential).			Silent	SNP	ENST00000328314.3	37	c.312T>C	CCDS31823.1																																																																																				PASS	0.408	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		23	155	23	155	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58127845	58127845	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:58127845G>C	ENST00000547588.1	-	5	1512	c.1513C>G	c.(1513-1515)Cga>Gga	p.R505G	AGAP2_ENST00000257897.3_Missense_Mutation_p.R169G	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	505	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R505G(1)|p.R169G(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						AGGCCTCCTCGTCCCTCCCCG	0.587																																						uc001spq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|breast(2)	5						c.(1513-1515)CGA>GGA		centaurin, gamma 1 isoform PIKE-L							57.0	45.0	49.0					12																	58127845		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58127845G>C	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1513C>G	12.37:g.58127845G>C	ENSP00000449241:p.Arg505Gly					AGAP2_uc001spp.2_Missense_Mutation_p.R505G|AGAP2_uc001spr.2_Missense_Mutation_p.R169G	p.R505G	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			5	1513	-			505			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1513C>G	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.246691|2.246691	0.39697|0.39697	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.66460|.	-0.21;-0.21|.	5.43|5.43	4.52|4.52	0.55395|0.55395	Mitochondrial Rho-like (1);|.	0.378650|.	0.25014|.	N|.	0.033812|.	T|T	0.39600|0.39600	0.1084|0.1084	N|N	0.11927|0.11927	0.2|0.2	0.37712|0.37712	D|D	0.924594|0.924594	B;P;P|.	0.40250|.	0.24;0.661;0.709|.	B;B;B|.	0.39771|.	0.074;0.205;0.309|.	T|T	0.39881|0.39881	-0.9592|-0.9592	10|5	0.72032|.	D|.	0.01|.	.|.	13.4881|13.4881	0.61377|0.61377	0.0:0.0:0.8423:0.1577|0.0:0.0:0.8423:0.1577	.|.	169;505;505|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	G|R	169;505|368	ENSP00000257897:R169G;ENSP00000449241:R505G|.	ENSP00000257897:R169G|.	R|T	-|-	1|2	2|0	AGAP2|AGAP2	56414112|56414112	0.836000|0.836000	0.29430|0.29430	0.998000|0.998000	0.56505|0.56505	0.951000|0.951000	0.60555|0.60555	1.074000|1.074000	0.30703|0.30703	1.398000|1.398000	0.46701|0.46701	0.561000|0.561000	0.74099|0.74099	CGA|ACG		PASS	0.587	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		12	17	12	17	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	63987866	63987866	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:63987866C>A	ENST00000324472.4	-	16	1764		c.e16+1			NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GATATAATTACCTTAGATAAA	0.234																																						uc001srp.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.e16+1		dpy-19-like 2							25.0	26.0	26.0					12																	63987866		2161	4238	6399	SO:0001630	splice_region_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63987866C>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1580+1G>T	12.37:g.63987866C>A							p.R527_splice	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	16	1761	-								A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Splice_Site	SNP	ENST00000324472.4	37	c.1580_splice	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	7.472	0.646780	0.14516	.	.	ENSG00000177990	ENST00000324472	.	.	.	3.18	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0392	0.42146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPY19L2	62274133	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	3.207000	0.51106	1.776000	0.52262	0.306000	0.20318	.		PASS	0.234	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	Intron	11	12	11	12	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65462643	65462643	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:65462643C>A	ENST00000286574.4	-	4	813	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	147	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.V147L(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AATGCTGCCACCCCATCCTGT	0.363			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(439-441)GTG>TTG		WNT inhibitory factor 1 precursor							136.0	120.0	125.0					12																	65462643		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462643C>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.439G>T	12.37:g.65462643C>A	ENSP00000286574:p.Val147Leu						p.V147L	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	584	-			147			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.439G>T	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226681	0.95173	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.43688	0.94;0.94	5.51	5.51	0.81932	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	L	0.48642	1.525	0.80722	D	1	P	0.50617	0.937	D	0.65874	0.939	T	0.50693	-0.8798	9	.	.	.	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	147	Q9Y5W5	WIF1_HUMAN	L	147;85	ENSP00000286574:V147L;ENSP00000442063:V85L	.	V	-	1	0	WIF1	63748910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.473000	0.73572	2.758000	0.94735	0.655000	0.94253	GTG		PASS	0.363	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			16	38	16	38	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71960207	71960207	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:71960207A>G	ENST00000266674.5	+	9	1192	c.881A>G	c.(880-882)cAg>cGg	p.Q294R	LGR5_ENST00000540815.2_Missense_Mutation_p.Q270R|LGR5_ENST00000536515.1_Missense_Mutation_p.Q222R			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	294					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.Q294R(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AATCCCATCCAGTTTGTTGGG	0.333																																						uc001swl.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(880-882)CAA>CGA		leucine-rich repeat-containing G protein-coupled							139.0	126.0	131.0					12																	71960207		2202	4299	6501	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71960207A>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.881A>G	12.37:g.71960207A>G	ENSP00000266674:p.Gln294Arg					LGR5_uc001swm.2_Missense_Mutation_p.Q270R|LGR5_uc001swn.1_RNA	p.Q294R	NM_003667	NP_003658	O75473	LGR5_HUMAN			9	929	+			294			Extracellular (Potential).|LRR 10.		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.881A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739159	0.69304	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;T;T	0.91237	-2.81;0.38;1.88	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	D	0.91264	0.7246	L	0.35414	1.06	0.44048	D	0.996789	B;D	0.58620	0.198;0.983	B;P	0.59115	0.257;0.852	D	0.90568	0.4520	10	0.35671	T	0.21	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	270;294	O75473-2;O75473	.;LGR5_HUMAN	R	294;294;222;270	ENSP00000266674:Q294R;ENSP00000443033:Q222R;ENSP00000441035:Q270R	ENSP00000266674:Q294R	Q	+	2	0	LGR5	70246474	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.950000	0.70265	2.265000	0.75225	0.533000	0.62120	CAG		PASS	0.333	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		16	24	16	24	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75444456	75444456	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:75444456C>A	ENST00000549446.1	-	3	2009	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	KCNC2_ENST00000341669.3_Missense_Mutation_p.M443I|KCNC2_ENST00000548513.1_Missense_Mutation_p.M443I|KCNC2_ENST00000393288.2_Missense_Mutation_p.M443I|KCNC2_ENST00000550433.1_Missense_Mutation_p.M443I|KCNC2_ENST00000298972.1_Missense_Mutation_p.M443I|KCNC2_ENST00000350228.2_Missense_Mutation_p.M443I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Missense_Mutation_p.M443I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	443					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.M443I(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TTTGGGGGTACATATCCCCAT	0.512																																						uc001sxg.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1327-1329)ATG>ATT		Shaw-related voltage-gated potassium channel							71.0	61.0	64.0					12																	75444456		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444456C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1329G>T	12.37:g.75444456C>A	ENSP00000449253:p.Met443Ile					KCNC2_uc009zry.2_Missense_Mutation_p.M443I|KCNC2_uc001sxe.2_Missense_Mutation_p.M443I|KCNC2_uc001sxf.2_Missense_Mutation_p.M443I|KCNC2_uc010stw.1_Missense_Mutation_p.M443I	p.M443I	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1873	-			443					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1329G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786424	0.70337	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	N	0.12569	0.235	0.80722	D	1	D;D;P;D;B	0.71674	0.998;0.998;0.926;0.998;0.357	D;D;P;D;B	0.87578	0.998;0.998;0.842;0.998;0.321	D	0.95176	0.8295	10	0.30854	T	0.27	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	443;443;443;443;443	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	I	443	ENSP00000448301:M443I;ENSP00000449941:M443I;ENSP00000449253:M443I;ENSP00000340121:M443I;ENSP00000298972:M443I;ENSP00000319877:M443I;ENSP00000438423:M443I;ENSP00000376966:M443I	ENSP00000298972:M443I	M	-	3	0	KCNC2	73730723	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	ATG		PASS	0.512	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		15	23	15	23	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75444506	75444506	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:75444506C>G	ENST00000549446.1	-	3	1959	c.1279G>C	c.(1279-1281)Ggg>Cgg	p.G427R	KCNC2_ENST00000341669.3_Missense_Mutation_p.G427R|KCNC2_ENST00000548513.1_Missense_Mutation_p.G427R|KCNC2_ENST00000393288.2_Missense_Mutation_p.G427R|KCNC2_ENST00000550433.1_Missense_Mutation_p.G427R|KCNC2_ENST00000298972.1_Missense_Mutation_p.G427R|KCNC2_ENST00000350228.2_Missense_Mutation_p.G427R|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Missense_Mutation_p.G427R	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	427					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G427W(2)|p.G427R(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CACCAGAACCCAATGGGAATG	0.512																																						uc001sxg.1																			4	Substitution - Missense(4)		lung(4)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1279-1281)GGG>CGG		Shaw-related voltage-gated potassium channel							73.0	63.0	66.0					12																	75444506		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444506C>G	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1279G>C	12.37:g.75444506C>G	ENSP00000449253:p.Gly427Arg					KCNC2_uc009zry.2_Missense_Mutation_p.G427R|KCNC2_uc001sxe.2_Missense_Mutation_p.G427R|KCNC2_uc001sxf.2_Missense_Mutation_p.G427R|KCNC2_uc010stw.1_Missense_Mutation_p.G427R	p.G427R	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1823	-			427					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1279G>C	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445838	0.84101	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99187	0.9718	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;0.998	D;D;D;D;D	0.79784	0.993;0.993;0.97;0.993;0.983	D	0.99035	1.0822	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	427;427;427;427;427	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	R	427	ENSP00000448301:G427R;ENSP00000449941:G427R;ENSP00000449253:G427R;ENSP00000340121:G427R;ENSP00000298972:G427R;ENSP00000319877:G427R;ENSP00000438423:G427R;ENSP00000376966:G427R	ENSP00000298972:G427R	G	-	1	0	KCNC2	73730773	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	GGG		PASS	0.512	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		18	21	18	21	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78513396	78513396	+	Silent	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:78513396C>G	ENST00000397909.2	+	15	3593	c.3420C>G	c.(3418-3420)cgC>cgG	p.R1140R	NAV3_ENST00000266692.7_Silent_p.R1140R|NAV3_ENST00000536525.2_Silent_p.R1140R|NAV3_ENST00000228327.6_Silent_p.R1140R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1140	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1140R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTGCCCCGCCCTTCAAAAT	0.522										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3418-3420)CGC>CGG		neuron navigator 3							67.0	70.0	69.0					12																	78513396		1999	4169	6168	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513396C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3420C>G	12.37:g.78513396C>G		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.R1140R|NAV3_uc010sub.1_Silent_p.R640R|NAV3_uc009zsf.2_Silent_p.R148R	p.R1140R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3593	+			1140			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3420C>G		.	.	.	.	.	.	.	.	.	.	C	7.863	0.726571	0.15439	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.75	2.96	0.34315	.	.	.	.	.	T	0.57902	0.2085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52457	-0.8573	4	.	.	.	-13.9329	8.3406	0.32241	0.0:0.6445:0.0:0.3555	.	.	.	.	A	212	.	.	P	+	1	0	NAV3	77037527	0.986000	0.35501	1.000000	0.80357	0.950000	0.60333	0.181000	0.16880	0.783000	0.33636	-0.136000	0.14681	CCC		PASS	0.522	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		20	25	20	25	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78515843	78515843	+	Silent	SNP	G	G	T	rs567006815		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:78515843G>T	ENST00000397909.2	+	16	4046	c.3873G>T	c.(3871-3873)ccG>ccT	p.P1291P	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.P1291P|NAV3_ENST00000228327.6_Silent_p.P1291P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1291	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P1291P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGAGTCACCGTCGTCCGGTA	0.537										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3871-3873)CCG>CCT		neuron navigator 3							50.0	51.0	51.0					12																	78515843		2108	4230	6338	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515843G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3873G>T	12.37:g.78515843G>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.P1291P|NAV3_uc010sub.1_Silent_p.P791P|NAV3_uc009zsf.2_Intron	p.P1291P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	4046	+			1291			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3873G>T																																																																																					PASS	0.537	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	29	11	29	---	---	---	---
CHST11	50515	broad.mit.edu	37	12	105151514	105151514	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:105151514A>G	ENST00000303694.5	+	3	1431	c.992A>G	c.(991-993)tAc>tGc	p.Y331C	CHST11_ENST00000549260.1_Missense_Mutation_p.Y326C	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	331					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.Y331C(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ACGCAGCTGTACGAAGTCTAC	0.433																																						uc001tkx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)TAC>TGC		carbohydrate sulfotransferase 11							62.0	62.0	62.0					12																	105151514		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151514A>G	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.992A>G	12.37:g.105151514A>G	ENSP00000305725:p.Tyr331Cys					CHST11_uc001tky.2_Missense_Mutation_p.Y326C|uc001tkz.2_5'Flank	p.Y331C	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	1283	+			331			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.992A>G	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.466269	0.63625	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.75154	-0.91;-0.91	5.5	4.29	0.51040	.	0.055644	0.85682	D	0.000000	D	0.85252	0.5654	M	0.87456	2.885	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.62813	0.906;0.907	D	0.87618	0.2508	10	0.87932	D	0	-30.3508	11.4218	0.49987	0.865:0.0:0.0:0.135	.	326;331	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	C	326;331	ENSP00000450004:Y326C;ENSP00000305725:Y331C	ENSP00000305725:Y331C	Y	+	2	0	CHST11	103675644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.082000	0.71318	2.099000	0.63709	0.528000	0.53228	TAC		PASS	0.433	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		15	34	15	34	---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107393465	107393465	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:107393465C>A	ENST00000008527.5	-	7	1868	c.1001G>T	c.(1000-1002)cGg>cTg	p.R334L		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	334					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.R334L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AAAGCCTGTCCGGCCTTCCGC	0.473																																						uc001tmi.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1000-1002)CGG>CTG		cryptochrome 1 (photolyase-like)							74.0	69.0	71.0					12																	107393465		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393465C>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1001G>T	12.37:g.107393465C>A	ENSP00000008527:p.Arg334Leu						p.R334L	NM_004075	NP_004066	Q16526	CRY1_HUMAN			7	1860	-			334			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.1001G>T	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187340	0.78789	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.79	4.89	0.63831	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.046964	0.85682	D	0.000000	T	0.60676	0.2287	M	0.65677	2.01	0.58432	D	0.999999	P	0.44344	0.833	B	0.43052	0.406	T	0.66594	-0.5884	9	0.72032	D	0.01	-13.058	15.1408	0.72609	0.0:0.9315:0.0:0.0685	.	334	Q16526	CRY1_HUMAN	L	334	.	ENSP00000008527:R334L	R	-	2	0	CRY1	105917595	0.841000	0.29509	1.000000	0.80357	0.997000	0.91878	1.701000	0.37825	1.423000	0.47198	0.585000	0.79938	CGG		PASS	0.473	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		12	21	12	21	---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108634306	108634306	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:108634306C>A	ENST00000332082.4	+	9	2148	c.1330C>A	c.(1330-1332)Cac>Aac	p.H444N	WSCD2_ENST00000547525.1_Missense_Mutation_p.H444N|WSCD2_ENST00000549903.1_Missense_Mutation_p.H444N|WSCD2_ENST00000261400.3_Missense_Mutation_p.H444N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	444						integral component of membrane (GO:0016021)		p.H444N(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCGCATGCCCACTGGAAGGG	0.667																																						uc001tms.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1330-1332)CAC>AAC		WSC domain containing 2							58.0	59.0	59.0					12																	108634306		1908	4112	6020	SO:0001583	missense	9671					integral to membrane		g.chr12:108634306C>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1330C>A	12.37:g.108634306C>A	ENSP00000331933:p.His444Asn					WSCD2_uc001tmt.2_Missense_Mutation_p.H444N|WSCD2_uc001tmu.2_Missense_Mutation_p.H192N	p.H444N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			8	2074	+			444					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.1330C>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683460	0.29872	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30182	1.56;1.54;1.56;1.54	4.77	4.77	0.60923	.	0.046388	0.85682	D	0.000000	T	0.21145	0.0509	N	0.16368	0.405	0.80722	D	1	B;B	0.31209	0.313;0.31	B;B	0.36534	0.227;0.091	T	0.02567	-1.1140	10	0.06236	T	0.91	-49.5528	17.0051	0.86391	0.0:1.0:0.0:0.0	.	444;444	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	N	444	ENSP00000448047:H444N;ENSP00000261400:H444N;ENSP00000331933:H444N;ENSP00000447272:H444N	ENSP00000261400:H444N	H	+	1	0	WSCD2	107158436	1.000000	0.71417	0.980000	0.43619	0.880000	0.50808	4.433000	0.59929	2.481000	0.83766	0.549000	0.68633	CAC		PASS	0.667	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		13	28	13	28	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115117336	115117336	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:115117336C>A	ENST00000257566.3	-	4	1227	c.838G>T	c.(838-840)Gct>Tct	p.A280S	TBX3_ENST00000349155.2_Missense_Mutation_p.A260S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	280					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A280S(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCAGTCACAGCGATGAATTCA	0.418																																						uc001tvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(838-840)GCT>TCT		T-box 3 protein isoform 2							155.0	145.0	148.0					12																	115117336		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115117336C>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.838G>T	12.37:g.115117336C>A	ENSP00000257566:p.Ala280Ser					TBX3_uc001tvu.1_Missense_Mutation_p.A260S	p.A280S	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	4	1802	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		280			T-box; second part.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.838G>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	35	5.453375	0.96223	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.92446	-3.04;-3.04	5.77	5.77	0.91146	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.998	D	0.97090	0.9790	10	0.52906	T	0.07	.	18.981	0.92755	0.0:1.0:0.0:0.0	.	260;280	O15119-2;O15119	.;TBX3_HUMAN	S	260;280;280	ENSP00000257567:A260S;ENSP00000257566:A280S	ENSP00000257566:A280S	A	-	1	0	TBX3	113601719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.745000	0.94114	0.650000	0.86243	GCT		PASS	0.418	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		27	60	27	60	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116549311	116549311	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:116549311T>A	ENST00000281928.3	-	3	523	c.317A>T	c.(316-318)gAa>gTa	p.E106V	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	106						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E106V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTCCTTCTTCCACAACTGa	0.343																																						uc001tvw.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(316-318)GAA>GTA		mediator complex subunit 13-like							89.0	88.0	88.0					12																	116549311		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116549311T>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.317A>T	12.37:g.116549311T>A	ENSP00000281928:p.Glu106Val						p.E106V	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	3	372	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		106					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.317A>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801825	0.70682	.	.	ENSG00000123066	ENST00000281928	T	0.80304	-1.36	5.5	5.5	0.81552	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.071536	0.53938	N	0.000050	D	0.89301	0.6676	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.90728	0.4640	10	0.87932	D	0	.	15.5969	0.76590	0.0:0.0:0.0:1.0	.	106	Q71F56	MD13L_HUMAN	V	106	ENSP00000281928:E106V	ENSP00000281928:E106V	E	-	2	0	MED13L	115033694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.087000	0.62958	0.533000	0.62120	GAA		PASS	0.343	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			9	36	9	36	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121666570	121666570	+	Silent	SNP	G	G	A	rs372212344		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:121666570G>A	ENST00000337233.4	+	7	956	c.648G>A	c.(646-648)tcG>tcA	p.S216S	P2RX4_ENST00000541532.1_3'UTR|P2RX4_ENST00000359949.7_Silent_p.S232S|P2RX4_ENST00000543171.1_Silent_p.S115S	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	216					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.S216S(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCTCAAGTCGTGCATTTATG	0.473																																						uc001tzr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)TCG>TCA		purinergic receptor P2X4		G		2,4404	4.2+/-10.8	0,2,2201	124.0	117.0	119.0		648	-8.8	0.1	12		119	0,8600		0,0,4300	no	coding-synonymous	P2RX4	NM_002560.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		216/389	121666570	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121666570G>A	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.648G>A	12.37:g.121666570G>A						P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Silent_p.S189S|P2RX4_uc001tzs.2_Silent_p.S232S|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.S115S	p.S216S	NM_002560	NP_002551	Q99571	P2RX4_HUMAN			7	952	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		216			Extracellular (Potential).		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	c.648G>A	CCDS9214.1																																																																																				PASS	0.473	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		28	57	28	57	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124212412	124212412	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:124212412G>A	ENST00000330342.3	+	6	852	c.604G>A	c.(604-606)Gtg>Atg	p.V202M		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	202					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.V202M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GTACACCATCGTGTCCTATGC	0.433																																						uc001ufr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(604-606)GTG>ATG		ATPase, H+ transporting, lysosomal V0 subunit							145.0	126.0	133.0					12																	124212412		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124212412G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.604G>A	12.37:g.124212412G>A	ENSP00000332247:p.Val202Met					ATP6V0A2_uc001ufq.1_Missense_Mutation_p.V202M	p.V202M	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	6	852	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		202			Cytoplasmic (Potential).		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.604G>A	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337611	0.60963	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.86694	-2.16;-2.16	5.72	1.65	0.23941	.	0.326617	0.31760	N	0.007112	T	0.80929	0.4718	L	0.31578	0.945	0.80722	D	1	B;D	0.53462	0.299;0.96	B;P	0.45377	0.311;0.478	T	0.78288	-0.2262	10	0.66056	D	0.02	-16.9732	10.9257	0.47189	0.0:0.4625:0.2419:0.2956	.	202;202	Q9Y487;Q8TBM3	VPP2_HUMAN;.	M	202;202;72	ENSP00000332247:V202M;ENSP00000443441:V72M	ENSP00000332247:V202M	V	+	1	0	ATP6V0A2	122778365	0.429000	0.25530	0.246000	0.24233	0.918000	0.54935	0.940000	0.28992	0.027000	0.15297	0.462000	0.41574	GTG		PASS	0.433	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		19	34	19	34	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124950785	124950785	+	Silent	SNP	G	G	C	rs562850972		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr12:124950785G>C	ENST00000405201.1	-	5	639	c.639C>G	c.(637-639)ccC>ccG	p.P213P	NCOR2_ENST00000397355.1_Silent_p.P213P|NCOR2_ENST00000404621.1_Silent_p.P213P|NCOR2_ENST00000429285.2_Silent_p.P213P|NCOR2_ENST00000356219.3_Silent_p.P213P|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	213					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.P213P(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGTGACACGGGCTTCTCAG	0.682																																						uc010tba.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(637-639)CCC>CCG		nuclear receptor co-repressor 2 isoform 2							51.0	63.0	59.0					12																	124950785		1988	4171	6159	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124950785G>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.639C>G	12.37:g.124950785G>C						NCOR2_uc010tay.1_Silent_p.P213P|NCOR2_uc010taz.1_Silent_p.P213P|NCOR2_uc010tbb.1_Silent_p.P213P|NCOR2_uc010tbc.1_Silent_p.P213P|NCOR2_uc001ugj.1_Silent_p.P213P|NCOR2_uc001ugk.1_Silent_p.P213P	p.P213P	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	5	756	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		213			Potential.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.639C>G	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718459	0.15372	.	.	ENSG00000196498	ENST00000542927	T	0.39229	1.09	4.8	-9.6	0.00553	.	0.073878	0.56097	U	0.000037	T	0.35508	0.0934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	7	0.40728	T	0.16	-10.9035	7.246	0.26121	0.17:0.5281:0.2119:0.09	.	.	.	.	R	136	ENSP00000443689:P136R	ENSP00000443689:P136R	P	-	2	0	NCOR2	123516738	0.000000	0.05858	0.709000	0.30452	0.553000	0.35397	-6.092000	0.00081	-1.790000	0.01263	-0.837000	0.03062	CCG		PASS	0.682	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		19	49	19	49	---	---	---	---
N6AMT2	221143	broad.mit.edu	37	13	21331602	21331602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:21331602C>A	ENST00000382758.1	-	2	183	c.136G>T	c.(136-138)Gag>Tag	p.E46*	N6AMT2_ENST00000382754.4_Nonsense_Mutation_p.E46*|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.E46*(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACCCAATTCTCTTCTATTATT	0.413																																						uc001uno.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(136-138)GAG>TAG		N-6 adenine-specific DNA methyltransferase 2							215.0	193.0	200.0					13																	21331602		2203	4300	6503	SO:0001587	stop_gained	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331602C>A	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.136G>T	13.37:g.21331602C>A	ENSP00000372206:p.Glu46*					N6AMT2_uc009zzr.1_Nonsense_Mutation_p.E46*|N6AMT2_uc001unp.2_RNA	p.E46*	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	2	217	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	46					B5G4V1	Nonsense_Mutation	SNP	ENST00000382758.1	37	c.136G>T	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352765	0.61293	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	.	.	.	5.52	5.52	0.82312	.	0.118916	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2775	0.87120	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000372202:E46X	E	-	1	0	N6AMT2	20229602	1.000000	0.71417	0.999000	0.59377	0.486000	0.33341	4.826000	0.62715	2.758000	0.94735	0.650000	0.86243	GAG		PASS	0.413	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		19	48	19	48	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25670683	25670683	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:25670683A>C	ENST00000281589.3	+	1	384	c.347A>C	c.(346-348)tAt>tCt	p.Y116S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.Y116S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGCACTGTATGATACAGTT	0.393																																						uc001upy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(346-348)TAT>TCT		poly(A) binding protein, cytoplasmic 3							136.0	130.0	132.0					13																	25670683		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670683A>C	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.347A>C	13.37:g.25670683A>C	ENSP00000281589:p.Tyr116Ser						p.Y116S	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	408	+		Lung SC(185;0.0225)|Breast(139;0.0602)	116			RRM 2.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.347A>C	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333973	0.41297	.	.	ENSG00000151846	ENST00000281589	D	0.85411	-1.98	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.41605	U	0.000851	D	0.82875	0.5132	L	0.28014	0.82	0.44024	D	0.996749	D	0.69078	0.997	D	0.66716	0.946	T	0.79990	-0.1570	10	0.87932	D	0	.	5.327	0.15913	0.9999:0.0:1.0E-4:0.0	.	116	Q9H361	PABP3_HUMAN	S	116	ENSP00000281589:Y116S	ENSP00000281589:Y116S	Y	+	2	0	PABPC3	24568683	1.000000	0.71417	0.149000	0.22428	0.025000	0.11179	6.258000	0.72487	0.469000	0.27268	0.254000	0.18369	TAT		PASS	0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		25	62	25	62	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26152955	26152955	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:26152955T>A	ENST00000381655.2	+	21	1927	c.1785T>A	c.(1783-1785)gaT>gaA	p.D595E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D555E|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	555					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D595E(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTTATAGGATAATGTGATTT	0.373																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1783-1785)GAT>GAA		ATPase, aminophospholipid transporter-like,							104.0	97.0	99.0					13																	26152955		1839	4086	5925	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26152955T>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1785T>A	13.37:g.26152955T>A	ENSP00000371070:p.Asp595Glu					ATP8A2_uc010tdi.1_Missense_Mutation_p.D555E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.D105E	p.D595E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	21	1927	+		Breast(139;0.0201)|Lung SC(185;0.0225)	555			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1785T>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009650	0.75046	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.69926	-0.44;-0.44	5.61	4.43	0.53597	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.85542	2.76	0.52501	D	0.999958	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.73708	0.98;0.981;0.98	D	0.83954	0.0318	10	0.87932	D	0	.	11.7147	0.51645	0.0:0.0693:0.0:0.9307	.	555;375;555	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	E	595;555;375	ENSP00000371070:D595E;ENSP00000255283:D555E	ENSP00000255283:D555E	D	+	3	2	ATP8A2	25050955	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.568000	0.36418	1.067000	0.40740	0.533000	0.62120	GAT		PASS	0.373	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		6	26	6	26	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38137489	38137489	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:38137489C>T	ENST00000379747.4	-	23	2609	c.2492G>A	c.(2491-2493)aGg>aAg	p.R831K	POSTN_ENST00000541179.1_Missense_Mutation_p.R776K|POSTN_ENST00000379742.4_Missense_Mutation_p.R774K|POSTN_ENST00000379743.4_Missense_Mutation_p.R804K|POSTN_ENST00000541481.1_Missense_Mutation_p.R744K|POSTN_ENST00000379749.4_Missense_Mutation_p.R803K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	831					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.R831K(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACGACCTTCCCTTAATCGTCT	0.308																																						uc001uwo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2491-2493)AGG>AAG		periostin, osteoblast specific factor isoform 1							104.0	97.0	99.0					13																	38137489		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38137489C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2492G>A	13.37:g.38137489C>T	ENSP00000369071:p.Arg831Lys					POSTN_uc010tet.1_Missense_Mutation_p.R332K|POSTN_uc001uwp.3_Missense_Mutation_p.R774K|POSTN_uc001uwr.2_Missense_Mutation_p.R776K|POSTN_uc001uwq.2_Missense_Mutation_p.R746K	p.R831K	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	23	2610	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	831					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2492G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079036	0.55753	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.96365	-3.81;-3.99;-3.32;-3.56;-3.6;-3.57	5.31	4.47	0.54385	.	0.070454	0.64402	D	0.000017	D	0.96128	0.8738	L	0.34521	1.04	0.19300	N	0.999974	B;B;D;B	0.53312	0.002;0.002;0.959;0.435	B;B;D;B	0.65684	0.002;0.002;0.937;0.078	D	0.91242	0.5022	10	0.87932	D	0	.	12.0425	0.53460	0.0:0.9155:0.0:0.0845	.	776;746;774;831	Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;POSTN_HUMAN	K	776;803;831;804;774;744	ENSP00000437959:R776K;ENSP00000369073:R803K;ENSP00000369071:R831K;ENSP00000369067:R804K;ENSP00000369066:R774K;ENSP00000437953:R744K	ENSP00000369066:R774K	R	-	2	0	POSTN	37035489	0.990000	0.36364	0.799000	0.32177	0.134000	0.20937	3.505000	0.53356	1.367000	0.46095	0.655000	0.94253	AGG		PASS	0.308	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		10	37	10	37	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39264710	39264710	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:39264710G>T	ENST00000280481.7	+	1	3445	c.3229G>T	c.(3229-3231)Gta>Tta	p.V1077L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1077					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1077L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACAGTTGATAGTAATGGAAGG	0.418																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3229-3231)GTA>TTA		FRAS1-related extracellular matrix protein 2							106.0	105.0	105.0					13																	39264710		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264710G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3229G>T	13.37:g.39264710G>T	ENSP00000280481:p.Val1077Leu						p.V1077L	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3538	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1077			Extracellular (Potential).|CSPG 7.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3229G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285724	0.59867	.	.	ENSG00000150893	ENST00000280481	T	0.37411	1.2	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.80508	2.5	0.80722	D	1	D	0.71674	0.998	P	0.60286	0.872	T	0.63359	-0.6655	10	0.87932	D	0	.	16.8428	0.85973	0.0:0.1282:0.8718:0.0	.	1077	Q5SZK8	FREM2_HUMAN	L	1077	ENSP00000280481:V1077L	ENSP00000280481:V1077L	V	+	1	0	FREM2	38162710	1.000000	0.71417	0.115000	0.21578	0.648000	0.38561	6.695000	0.74593	2.890000	0.99128	0.650000	0.86243	GTA		PASS	0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		32	51	32	51	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67800109	67800109	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:67800109C>A	ENST00000377865.2	-	1	2598	c.2464G>T	c.(2464-2466)Ggt>Tgt	p.G822C	PCDH9_ENST00000544246.1_Missense_Mutation_p.G822C|PCDH9_ENST00000328454.5_Missense_Mutation_p.G822C|PCDH9_ENST00000377861.3_Missense_Mutation_p.G822C|PCDH9_ENST00000456367.1_Missense_Mutation_p.G822C			Q9HC56	PCDH9_HUMAN	protocadherin 9	822					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G822C(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCATGGCACCGGCGATGATG	0.527																																						uc001vik.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2464-2466)GGT>TGT		protocadherin 9 isoform 1 precursor							216.0	193.0	201.0					13																	67800109		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800109C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2464G>T	13.37:g.67800109C>A	ENSP00000367096:p.Gly822Cys					PCDH9_uc001vil.2_Missense_Mutation_p.G822C|PCDH9_uc010thl.1_Missense_Mutation_p.G822C|PCDH9_uc001vin.3_Missense_Mutation_p.G822C	p.G822C	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3156	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	822			Helical; (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2464G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374432	0.61735	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.93	5.93	0.95920	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.78763	-0.2077	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	822;822;822;822	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	C	822	ENSP00000442186:G822C;ENSP00000367096:G822C;ENSP00000401699:G822C;ENSP00000332060:G822C;ENSP00000367092:G822C	ENSP00000332060:G822C	G	-	1	0	PCDH9	66698110	1.000000	0.71417	0.303000	0.25071	0.947000	0.59692	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GGT		PASS	0.527	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		34	70	34	70	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67802410	67802410	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:67802410C>T	ENST00000377865.2	-	1	297	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	PCDH9_ENST00000544246.1_Missense_Mutation_p.A55T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A55T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A55T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A55T			Q9HC56	PCDH9_HUMAN	protocadherin 9	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A55T(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCCCTGTGGCAGCATTGATG	0.448																																						uc001vik.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(163-165)GCC>ACC		protocadherin 9 isoform 1 precursor							90.0	87.0	88.0					13																	67802410		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802410C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.163G>A	13.37:g.67802410C>T	ENSP00000367096:p.Ala55Thr					PCDH9_uc001vil.2_Missense_Mutation_p.A55T|PCDH9_uc010thl.1_Missense_Mutation_p.A55T|PCDH9_uc001vin.3_Missense_Mutation_p.A55T	p.A55T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	855	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	55			Extracellular (Potential).|Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.163G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494751	0.26774	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.82	5.82	0.92795	Cadherin, N-terminal (1);Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	N	0.22421	0.69	0.80722	D	1	P;B;P;P	0.42161	0.498;0.302;0.575;0.772	B;B;B;B	0.44044	0.326;0.229;0.312;0.439	T	0.04115	-1.0976	10	0.15499	T	0.54	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	55;55;55;55	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	T	55	ENSP00000442186:A55T;ENSP00000367096:A55T;ENSP00000401699:A55T;ENSP00000332060:A55T;ENSP00000367092:A55T	ENSP00000332060:A55T	A	-	1	0	PCDH9	66700411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.754000	0.94517	0.650000	0.86243	GCC		PASS	0.448	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		16	38	16	38	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72147095	72147095	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:72147095G>T	ENST00000359684.2	-	5	1337	c.1338C>A	c.(1336-1338)agC>agA	p.S446R	DACH1_ENST00000305425.4_Missense_Mutation_p.S394R|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	446					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.S394R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTGGAGGTAGGCTGACAGGAA	0.458																																						uc010thn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1174-1176)AGC>AGA		dachshund homolog 1 isoform a							95.0	97.0	96.0					13																	72147095		2073	4239	6312	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147095G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1338C>A	13.37:g.72147095G>T	ENSP00000352712:p.Ser446Arg					DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	p.S392R	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	5	1599	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	444					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1176C>A		.	.	.	.	.	.	.	.	.	.	G	20.6	4.021112	0.75275	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.39592	1.12;1.07	5.6	5.6	0.85130	.	0.037827	0.85682	D	0.000000	T	0.47469	0.1447	M	0.63843	1.955	0.80722	D	1	D	0.59357	0.985	P	0.47981	0.563	T	0.47249	-0.9132	10	0.52906	T	0.07	-15.9665	12.889	0.58061	0.0755:0.0:0.9245:0.0	.	392	Q9UI36-2	.	R	394;446;446	ENSP00000304994:S394R;ENSP00000352712:S446R	ENSP00000304994:S394R	S	-	3	2	DACH1	71045096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.258000	0.65479	2.800000	0.96347	0.591000	0.81541	AGC		PASS	0.458	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		6	21	6	21	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76427226	76427226	+	Splice_Site	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:76427226A>T	ENST00000321797.8	+	26	4386		c.e26-1		LMO7_ENST00000341547.4_Splice_Site|LMO7_ENST00000465261.2_Splice_Site|LMO7_ENST00000526202.1_Splice_Site|LMO7_ENST00000357063.3_Splice_Site|LMO7_ENST00000377534.3_Splice_Site			Q8WWI1	LMO7_HUMAN	LIM domain 7						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTGTGTTTCAGAGGCGAATC	0.363																																						uc001vjv.2																			3	Unknown(3)		lung(3)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.e25-2		LIM domain only 7 isoform 2							92.0	92.0	92.0					13																	76427226		2203	4300	6503	SO:0001630	splice_region_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427226A>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3666-1A>T	13.37:g.76427226A>T						LMO7_uc010thv.1_Splice_Site_p.R1173_splice|LMO7_uc010thw.1_Splice_Site_p.R1099_splice	p.R1222_splice	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	25	4426	+		Breast(118;0.0992)						E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Splice_Site	SNP	ENST00000321797.8	37	c.3666_splice		.	.	.	.	.	.	.	.	.	.	A	21.8	4.196302	0.78902	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5494	0.84464	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LMO7	75325227	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.480000	0.81109	2.299000	0.77371	0.528000	0.53228	.		PASS	0.363	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	Intron	7	20	7	20	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454000	84454000	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:84454000C>A	ENST00000377084.2	-	1	2528	c.1643G>T	c.(1642-1644)gGt>gTt	p.G548V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	548	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.G548V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CACTTCGGAACCCAAGCGTTC	0.532																																						uc001vlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1642-1644)GGT>GTT		slit and trk like 1 protein precursor							59.0	55.0	56.0					13																	84454000		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454000C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1643G>T	13.37:g.84454000C>A	ENSP00000366288:p.Gly548Val						p.G548V	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2529	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	548			LRRCT 2.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1643G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953478	0.34471	.	.	ENSG00000178235	ENST00000377084	T	0.54071	0.59	5.22	5.22	0.72569	Cysteine-rich flanking region, C-terminal (1);	0.109400	0.64402	D	0.000010	T	0.49762	0.1576	L	0.46157	1.445	0.80722	D	1	B	0.17465	0.022	B	0.22880	0.042	T	0.42224	-0.9464	10	0.39692	T	0.17	-7.4188	17.693	0.88273	0.0:1.0:0.0:0.0	.	548	Q96PX8	SLIK1_HUMAN	V	548	ENSP00000366288:G548V	ENSP00000366288:G548V	G	-	2	0	SLITRK1	83352001	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.234000	0.51320	2.603000	0.88011	0.655000	0.94253	GGT		PASS	0.532	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		7	14	7	14	---	---	---	---
TGDS	23483	broad.mit.edu	37	13	95228567	95228567	+	Splice_Site	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:95228567C>T	ENST00000261296.5	-	11	1103		c.e11+1		TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase						nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCAAAACATACTTGTTTTCTT	0.338																																						uc001vlw.2																			1	Unknown(1)		lung(1)		0						c.e11+1		TDP-glucose 4,6-dehydratase							116.0	113.0	114.0					13																	95228567		2203	4300	6503	SO:0001630	splice_region_variant	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95228567C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.982+1G>A	13.37:g.95228567C>T						TGDS_uc001vlx.2_Splice_Site	p.I328_splice	NM_014305	NP_055120	O95455	TGDS_HUMAN			11	1103	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)							Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Splice_Site	SNP	ENST00000261296.5	37	c.982_splice	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103070	0.56183	.	.	ENSG00000088451	ENST00000261296	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TGDS	94026568	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	5.989000	0.70587	2.729000	0.93468	0.555000	0.69702	.		PASS	0.338	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305	Intron	11	33	11	33	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96277157	96277157	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr13:96277157C>T	ENST00000376829.2	-	8	1688	c.837G>A	c.(835-837)gaG>gaA	p.E279E	DZIP1_ENST00000347108.3_Silent_p.E279E|DZIP1_ENST00000361156.3_Silent_p.E279E|DZIP1_ENST00000361396.2_Silent_p.E279E	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	279					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E279E(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AAAAGTCTTCCTCTTTTGTTT	0.279																																						uc001vmk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(835-837)GAG>GAA		DAZ interacting protein 1 isoform 2							84.0	80.0	81.0					13																	96277157		2200	4298	6498	SO:0001819	synonymous_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96277157C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.837G>A	13.37:g.96277157C>T						DZIP1_uc001vml.2_Silent_p.E279E	p.E279E	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		8	1689	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		279			Potential.		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	c.837G>A	CCDS9478.1																																																																																				PASS	0.279	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		6	14	6	14	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404367	20404367	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:20404367T>A	ENST00000285600.4	+	1	601	c.542T>A	c.(541-543)cTt>cAt	p.L181H		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L181H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTTGTGACCTTCCCTTGGTG	0.478																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(541-543)CTT>CAT		olfactory receptor, family 4, subfamily K,							165.0	168.0	167.0					14																	20404367		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404367T>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.542T>A	14.37:g.20404367T>A	ENSP00000285600:p.Leu181His						p.L181H	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	542	+	all_cancers(95;0.00108)		181			Extracellular (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.542T>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	17.20	3.328963	0.60743	.	.	ENSG00000155249	ENST00000285600	T	0.38887	1.11	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.127905	0.35936	N	0.002895	T	0.67477	0.2897	M	0.86343	2.81	0.34178	D	0.670612	D	0.89917	1.0	D	0.91635	0.999	T	0.80743	-0.1246	10	0.87932	D	0	.	12.3562	0.55176	0.0:0.0:0.0:1.0	.	181	Q8NGD4	OR4K1_HUMAN	H	181	ENSP00000285600:L181H	ENSP00000285600:L181H	L	+	2	0	OR4K1	19474207	0.719000	0.27986	0.987000	0.45799	0.993000	0.82548	5.233000	0.65337	2.011000	0.59026	0.460000	0.39030	CTT		PASS	0.478	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			15	172	15	172	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444303	20444303	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:20444303C>A	ENST00000305051.5	+	1	701	c.626C>A	c.(625-627)aCc>aAc	p.T209N		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T209N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCTAGTGACCAAGTTAGCC	0.428																																						uc010tkx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(625-627)ACC>AAC		olfactory receptor, family 4, subfamily K,							197.0	188.0	191.0					14																	20444303		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444303C>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.626C>A	14.37:g.20444303C>A	ENSP00000304077:p.Thr209Asn						p.T209N	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	626	+	all_cancers(95;0.00108)		209			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.626C>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904091	0.52333	.	.	ENSG00000169488	ENST00000305051	T	0.00115	8.71	3.98	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.121737	0.37136	N	0.002222	T	0.00178	0.0005	N	0.22421	0.69	0.21915	N	0.999473	D	0.55385	0.971	P	0.57425	0.82	T	0.52320	-0.8591	10	0.87932	D	0	.	6.0307	0.19679	0.0:0.6635:0.0:0.3365	.	209	Q8NH41	OR4KF_HUMAN	N	209	ENSP00000304077:T209N	ENSP00000304077:T209N	T	+	2	0	OR4K15	19514143	0.001000	0.12720	1.000000	0.80357	0.994000	0.84299	0.789000	0.26886	0.882000	0.36016	0.585000	0.79938	ACC		PASS	0.428	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			24	203	24	203	---	---	---	---
RPGRIP1	57096	broad.mit.edu	37	14	21793152	21793152	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:21793152C>G	ENST00000400017.2	+	14	2138	c.2138C>G	c.(2137-2139)aCt>aGt	p.T713S	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.T713S|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.T675S|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.T72S|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	713					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.T329S(1)|p.T713S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAACACAGCACTCTTGCTGCA	0.522																																						uc001wag.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|pancreas(1)	7						c.(2137-2139)ACT>AGT		retinitis pigmentosa GTPase regulator							143.0	133.0	136.0					14																	21793152		2013	4192	6205	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21793152C>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2138C>G	14.37:g.21793152C>G	ENSP00000382895:p.Thr713Ser					RPGRIP1_uc001wah.2_Missense_Mutation_p.T355S|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.T178S|RPGRIP1_uc001wak.2_Missense_Mutation_p.T188S|RPGRIP1_uc010aim.2_Missense_Mutation_p.T96S|RPGRIP1_uc001wal.2_Missense_Mutation_p.T72S|RPGRIP1_uc001wam.2_Missense_Mutation_p.T30S	p.T713S	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	2138	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	713					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2138C>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144577	0.57044	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.42	3.55	0.40652	.	0.380180	0.29892	N	0.010925	D	0.94493	0.8227	M	0.71206	2.165	0.09310	N	1	P;P;P;P;D	0.61080	0.933;0.933;0.933;0.933;0.989	P;P;P;P;P	0.62560	0.542;0.542;0.542;0.542;0.904	D	0.87744	0.2587	10	0.72032	D	0.01	-2.9163	5.9326	0.19148	0.1532:0.6795:0.0:0.1673	.	96;72;188;329;713	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	S	675;713;713;188;72	ENSP00000451219:T675S;ENSP00000382895:T713S;ENSP00000206660:T713S;ENSP00000451262:T188S;ENSP00000309721:T72S	ENSP00000206660:T713S	T	+	2	0	RPGRIP1	20862992	0.032000	0.19561	0.379000	0.26080	0.878000	0.50629	1.716000	0.37981	1.486000	0.48398	0.655000	0.94253	ACT		PASS	0.522	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		11	89	11	89	---	---	---	---
NRL	4901	broad.mit.edu	37	14	24551685	24551685	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:24551685G>T	ENST00000561028.1	-	2	692	c.373C>A	c.(373-375)Cac>Aac	p.H125N	NRL_ENST00000560550.1_5'Flank|NRL_ENST00000396997.1_Missense_Mutation_p.H125N|NRL_ENST00000397002.2_Missense_Mutation_p.H125N|NRL_ENST00000396995.1_5'Flank			P54845	NRL_HUMAN	neural retina leucine zipper	125					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H125N(1)		lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		ACCTGGACGTGCTGGGCTCCT	0.642																																						uc001wlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)CAC>AAC		neural retina leucine zipper							52.0	59.0	57.0					14																	24551685		2176	4249	6425	SO:0001583	missense	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551685G>T		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.373C>A	14.37:g.24551685G>T	ENSP00000454062:p.His125Asn					NRL_uc001wlp.2_Missense_Mutation_p.H125N|NRL_uc001wlq.2_Missense_Mutation_p.H125N	p.H125N	NM_006177	NP_006168	P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	504	-			125					A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	c.373C>A	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	G	7.516	0.655665	0.14580	.	.	ENSG00000129535	ENST00000397002;ENST00000396997	D;D	0.97529	-4.42;-4.42	5.19	3.2	0.36748	.	0.332683	0.27563	N	0.018820	D	0.91236	0.7238	N	0.12746	0.255	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.81278	-0.1005	10	0.22706	T	0.39	-7.1238	12.3288	0.55026	0.0:0.0:0.6856:0.3144	.	125	P54845	NRL_HUMAN	N	125	ENSP00000380197:H125N;ENSP00000380193:H125N	ENSP00000337023:H125N	H	-	1	0	NRL	23621525	0.002000	0.14202	0.895000	0.35142	0.638000	0.38207	0.934000	0.28910	1.388000	0.46506	0.655000	0.94253	CAC		PASS	0.642	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1			11	76	11	76	---	---	---	---
PSME2	5721	broad.mit.edu	37	14	24612869	24612869	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:24612869C>T	ENST00000216802.5	-	10	1203	c.564G>A	c.(562-564)cgG>cgA	p.R188R	EMC9_ENST00000216799.4_5'Flank|PSME2_ENST00000560410.1_Silent_p.R177R|EMC9_ENST00000558200.1_5'Flank|PSME2_ENST00000471700.2_5'UTR|EMC9_ENST00000560403.1_5'Flank|EMC9_ENST00000419198.2_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	188					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)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)		p.R188R(1)		endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		GCACCAAGGCCCGGTAATCCA	0.537																																						uc001wmj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)CGG>CGA		proteasome activator subunit 2							70.0	72.0	71.0					14																	24612869		2203	4300	6503	SO:0001819	synonymous_variant	5721				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	proteasome activator complex		g.chr14:24612869C>T		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.564G>A	14.37:g.24612869C>T						FAM158A_uc001wmi.2_5'Flank|PSME2_uc001wmk.2_Silent_p.R111R	p.R188R	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	10	629	-			188					Q15129	Silent	SNP	ENST00000216802.5	37	c.564G>A	CCDS9614.1																																																																																				PASS	0.537	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		13	57	13	57	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24724340	24724340	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:24724340C>A	ENST00000206765.6	-	12	1888	c.1765G>T	c.(1765-1767)Gtg>Ttg	p.V589L	TGM1_ENST00000544573.1_Missense_Mutation_p.V147L	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	589					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V589L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCCCCATCACCGCGTCCTGT	0.582																																						uc001wod.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1765-1767)GTG>TTG		transglutaminase 1	L-Glutamine(DB00130)						95.0	78.0	84.0					14																	24724340		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24724340C>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1765G>T	14.37:g.24724340C>A	ENSP00000206765:p.Val589Leu					TGM1_uc010tog.1_Missense_Mutation_p.V147L	p.V589L	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	12	1889	-			589					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.1765G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038151	0.35989	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.70631	-0.5;-0.5	5.18	4.27	0.50696	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.977781	0.08400	N	0.951535	T	0.71929	0.3398	M	0.73217	2.22	0.09310	N	0.999999	P	0.43578	0.811	B	0.41135	0.348	T	0.59947	-0.7358	10	0.36615	T	0.2	-20.3008	12.3322	0.55046	0.3054:0.6946:0.0:0.0	.	589	P22735	TGM1_HUMAN	L	589;147	ENSP00000206765:V589L;ENSP00000439446:V147L	ENSP00000206765:V589L	V	-	1	0	TGM1	23794180	0.210000	0.23517	0.844000	0.33320	0.151000	0.21798	1.172000	0.31908	1.360000	0.45960	0.655000	0.94253	GTG		PASS	0.582	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		9	45	9	45	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237218	29237218	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:29237218C>A	ENST00000313071.4	+	1	932	c.733C>A	c.(733-735)Cac>Aac	p.H245N	FOXG1_ENST00000382535.3_Missense_Mutation_p.H245N|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	245					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H245N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGTGCCGCGCCACTACGACGA	0.622																																						uc001wqe.2																			1	Substitution - Missense(1)	p.H245H(1)	lung(1)	ovary(2)|lung(2)	4						c.(733-735)CAC>AAC		forkhead box G1							47.0	48.0	48.0					14																	29237218		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding	g.chr14:29237218C>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.733C>A	14.37:g.29237218C>A	ENSP00000339004:p.His245Asn						p.H245N	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	932	+			245			Fork-head.		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.733C>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	c	17.56	3.420778	0.62622	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95307	-3.67;-3.67	4.0	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.256321	0.38272	U	0.001756	D	0.91355	0.7273	N	0.20574	0.59	0.52099	D	0.999944	B	0.34103	0.437	B	0.44224	0.444	D	0.89605	0.3837	10	0.66056	D	0.02	.	12.4802	0.55837	0.1694:0.8306:0.0:0.0	.	245	P55316	FOXG1_HUMAN	N	245	ENSP00000371975:H245N;ENSP00000339004:H245N	ENSP00000339004:H245N	H	+	1	0	FOXG1	28306969	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.246000	0.51414	0.643000	0.30638	0.299000	0.19835	CAC		PASS	0.622	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			8	30	8	30	---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31099693	31099693	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:31099693A>T	ENST00000458591.2	+	3	370	c.143A>T	c.(142-144)tAt>tTt	p.Y48F	SCFD1_ENST00000544052.2_De_novo_Start_OutOfFrame|SCFD1_ENST00000541123.1_De_novo_Start_OutOfFrame|SCFD1_ENST00000421551.3_Intron|SCFD1_ENST00000396629.2_Intron	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	48					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)	p.Y48F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GTACTCATTTATGACAGATTT	0.318																																						uc001wqm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)TAT>TTT		vesicle transport-related protein isoform a							129.0	131.0	130.0					14																	31099693		2203	4299	6502	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31099693A>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.143A>T	14.37:g.31099693A>T	ENSP00000390783:p.Tyr48Phe					SCFD1_uc001wqn.1_5'UTR|SCFD1_uc010tpg.1_Intron|SCFD1_uc010tph.1_5'UTR|SCFD1_uc010amf.1_5'UTR|SCFD1_uc010tpi.1_Intron|SCFD1_uc010amd.1_5'UTR|SCFD1_uc010ame.1_5'UTR	p.Y48F	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	3	167	+	Hepatocellular(127;0.0877)		48					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.143A>T	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.764728	0.49574	.	.	ENSG00000092108	ENST00000458591;ENST00000557076	T;T	0.76060	-0.99;-0.99	5.6	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.79868	0.4520	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.75093	-0.3439	10	0.15499	T	0.54	-35.0948	12.9872	0.58598	0.871:0.0:0.0:0.129	.	48	Q8WVM8	SCFD1_HUMAN	F	48;23	ENSP00000390783:Y48F;ENSP00000450755:Y23F	ENSP00000309417:Y56F	Y	+	2	0	SCFD1	30169444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.835000	0.75344	2.129000	0.65627	0.528000	0.53228	TAT		PASS	0.318	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		19	50	19	50	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52735261	52735261	+	Silent	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:52735261T>C	ENST00000306051.2	+	1	831	c.729T>C	c.(727-729)tgT>tgC	p.C243C	PTGDR_ENST00000553372.1_Silent_p.C243C	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	243					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.C243C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCAGGGACTGTGCCGAGCCGC	0.687																																						uc001wzq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(727-729)TGT>TGC		prostaglandin D2 receptor	Nedocromil(DB00716)						41.0	42.0	42.0					14																	52735261		2203	4297	6500	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735261T>C	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.729T>C	14.37:g.52735261T>C							p.C243C	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	831	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		243			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.729T>C	CCDS9707.1																																																																																				PASS	0.687	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		26	49	26	49	---	---	---	---
GPR137C	283554	broad.mit.edu	37	14	53100290	53100290	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:53100290G>C	ENST00000321662.6	+	5	910	c.910G>C	c.(910-912)Gga>Cga	p.G304R		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	304						integral component of membrane (GO:0016021)		p.G320R(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TATAGTATTTGGAATGGTCCT	0.388																																						uc001wzu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GGA>CGA		G protein-coupled receptor 137C							127.0	121.0	123.0					14																	53100290		1852	4096	5948	SO:0001583	missense	283554					integral to membrane		g.chr14:53100290G>C	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.910G>C	14.37:g.53100290G>C	ENSP00000315106:p.Gly304Arg					GPR137C_uc001wzt.3_Missense_Mutation_p.G320R	p.G304R	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN			5	910	+	Breast(41;0.0716)		304			Helical; (Potential).		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	c.910G>C	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.898784|4.898784	0.91962|0.91962	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.56941|.	0.43|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75598|0.75598	0.3871|0.3871	M|M	0.67700|0.67700	2.07|2.07	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.72915|0.72915	-0.4147|-0.4147	10|5	0.87932|.	D|.	0|.	-16.6493|-16.6493	19.8667|19.8667	0.96806|0.96806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304;133|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	R|S	304|273	ENSP00000315106:G304R|.	ENSP00000315106:G304R|.	G|W	+|+	1|2	0|0	GPR137C|GPR137C	52170040|52170040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.147000|9.147000	0.94646|0.94646	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.388	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		14	24	14	24	---	---	---	---
GPATCH2L	55668	broad.mit.edu	37	14	76620929	76620929	+	Missense_Mutation	SNP	G	G	T	rs140112317		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:76620929G>T	ENST00000261530.7	+	2	289	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D75Y|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.D75Y|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.D75Y	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	75								p.D75Y(2)									GGCCACTAAGGACTGTCGAGA	0.532																																						uc001xsh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(223-225)GAC>TAC		hypothetical protein LOC55668 isoform 1		G	TYR/ASP,TYR/ASP	1,4405	2.1+/-5.4	0,1,2202	76.0	69.0	71.0		223,223	5.4	1.0	14	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense	C14orf118	NM_017926.2,NM_017972.2	160,160	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	75/483,75/478	76620929	1,13005	2203	4300	6503	SO:0001583	missense	55668							g.chr14:76620929G>T	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.223G>T	14.37:g.76620929G>T	ENSP00000261530:p.Asp75Tyr					C14orf118_uc001xsi.2_Missense_Mutation_p.D75Y|C14orf118_uc001xsj.1_Missense_Mutation_p.D75Y|C14orf118_uc001xsk.1_Missense_Mutation_p.D75Y|C14orf118_uc001xsl.2_RNA	p.D75Y	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0172)	2	309	+			75					B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.223G>T	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527341	0.85706	2.27E-4	0.0	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.58940	0.36;0.54;0.3;0.36	5.37	5.37	0.77165	.	0.315484	0.29940	N	0.010802	T	0.74527	0.3728	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.98;0.997;0.935	T	0.76550	-0.2918	10	0.87932	D	0	-39.1381	19.1142	0.93331	0.0:0.0:1.0:0.0	.	75;75;75	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	Y	75	ENSP00000451587:D75Y;ENSP00000323775:D75Y;ENSP00000261530:D75Y;ENSP00000450657:D75Y	ENSP00000261530:D75Y	D	+	1	0	C14orf118	75690682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.101000	0.94219	2.516000	0.84829	0.655000	0.94253	GAC		PASS	0.532	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		9	51	9	51	---	---	---	---
LRRC74A	145497	broad.mit.edu	37	14	77327101	77327101	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:77327101G>A	ENST00000393774.3	+	11	1294	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L		NM_194287.2	NP_919263.2												p.L390L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACCCGCAGCTGGACGTGGTAT	0.532																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1168-1170)CTG>CTA		hypothetical protein LOC145497							124.0	127.0	126.0					14																	77327101		2080	4205	6285	SO:0001819	synonymous_variant	145497							g.chr14:77327101G>A																												ENST00000393774.3:c.1170G>A	14.37:g.77327101G>A						C14orf166B_uc010asn.1_Silent_p.L150L|C14orf166B_uc001xsw.2_RNA	p.L390L	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	11	1284	+			390						Silent	SNP	ENST00000393774.3	37	c.1170G>A	CCDS9853.2																																																																																				PASS	0.532	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			9	40	9	40	---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77706032	77706032	+	Missense_Mutation	SNP	G	G	C	rs191908671		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:77706032G>C	ENST00000298351.4	+	12	1037	c.893G>C	c.(892-894)cGc>cCc	p.R298P		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	298					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.R298P(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)		CCCTGTGCCCGCCTGTGCTTC	0.622																																						uc001xtf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(892-894)CGC>CCC		transmembrane protein 63C							34.0	40.0	38.0					14																	77706032		2000	4159	6159	SO:0001583	missense	57156					integral to membrane		g.chr14:77706032G>C		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.893G>C	14.37:g.77706032G>C	ENSP00000298351:p.Arg298Pro					TMEM63C_uc010asq.1_Missense_Mutation_p.R298P	p.R298P	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	12	1105	+			298					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.893G>C	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947363	0.53186	.	.	ENSG00000165548	ENST00000298351	T	0.46063	0.88	5.17	3.31	0.37934	.	0.272331	0.42294	D	0.000729	T	0.36220	0.0959	L	0.38175	1.15	0.43054	D	0.994666	P	0.37441	0.595	B	0.41036	0.346	T	0.18209	-1.0344	10	0.62326	D	0.03	-15.0788	10.4261	0.44378	0.1556:0.0:0.8444:0.0	.	298	Q9P1W3	TM63C_HUMAN	P	298	ENSP00000298351:R298P	ENSP00000298351:R298P	R	+	2	0	TMEM63C	76775785	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.069000	0.57541	0.546000	0.28920	0.462000	0.41574	CGC		PASS	0.622	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			2	7	2	7	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81562988	81562988	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:81562988T>A	ENST00000541158.2	+	8	873	c.551T>A	c.(550-552)cTg>cAg	p.L184Q	TSHR_ENST00000298171.2_Missense_Mutation_p.L184Q|TSHR_ENST00000554435.1_Missense_Mutation_p.L184Q|TSHR_ENST00000342443.6_Missense_Mutation_p.L184Q|TSHR_ENST00000554263.1_Missense_Mutation_p.L184Q			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	184					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.L184Q(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGTAGGAAGCTGTACAACAAT	0.438			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		2	Substitution - Missense(2)		lung(2)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(550-552)CTG>CAG		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						146.0	119.0	128.0					14																	81562988		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81562988T>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.551T>A	14.37:g.81562988T>A	ENSP00000441235:p.Leu184Gln					TSHR_uc001xvb.1_Missense_Mutation_p.L184Q|TSHR_uc001xvc.2_Missense_Mutation_p.L184Q|TSHR_uc010tvs.1_Missense_Mutation_p.L184Q	p.L184Q	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	7	707	+			184			Extracellular (Potential).|LRR 4.		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.551T>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043549	0.75732	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.98427	1.0580	10	0.87932	D	0	.	12.9364	0.58316	0.0:0.0:0.0:1.0	.	184;184;184;184	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	Q	184	ENSP00000441235:L184Q;ENSP00000340113:L184Q;ENSP00000298171:L184Q;ENSP00000451202:L184Q;ENSP00000450549:L184Q	ENSP00000298171:L184Q	L	+	2	0	TSHR	80632741	1.000000	0.71417	0.987000	0.45799	0.918000	0.54935	5.298000	0.65710	2.311000	0.77944	0.533000	0.62120	CTG		PASS	0.438	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		10	27	10	27	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89105221	89105221	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:89105221T>C	ENST00000380664.5	-	30	4243	c.4244A>G	c.(4243-4245)gAt>gGt	p.D1415G	EML5_ENST00000554922.1_Missense_Mutation_p.D1423G|EML5_ENST00000352093.5_Missense_Mutation_p.D1377G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1415						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.D1423G(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGAATATCATCATTATGTTC	0.328																																						uc001xxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4267-4269)GAT>GGT		echinoderm microtubule associated protein like							82.0	72.0	75.0					14																	89105221		1810	4076	5886	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89105221T>C	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4244A>G	14.37:g.89105221T>C	ENSP00000370039:p.Asp1415Gly					EML5_uc001xxf.2_Missense_Mutation_p.D210G|EML5_uc001xxh.1_Missense_Mutation_p.D554G	p.D1423G	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			32	4454	-			1415			WD 20.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.4268A>G	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572459	0.86542	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.47528	0.84;0.84;0.84	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.79123	2.44	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72510	-0.4271	10	0.52906	T	0.07	-21.129	15.3849	0.74691	0.0:0.0:0.0:1.0	.	1423;1415	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	G	1423;1377;1415	ENSP00000451998:D1423G;ENSP00000298315:D1377G;ENSP00000370039:D1415G	ENSP00000298315:D1377G	D	-	2	0	EML5	88174974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.049000	0.60858	0.482000	0.46254	GAT		PASS	0.328	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			5	1	5	1	---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89336410	89336410	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:89336410A>G	ENST00000345383.5	+	10	971	c.887A>G	c.(886-888)aAc>aGc	p.N296S	TTC8_ENST00000346301.4_Missense_Mutation_p.N266S|TTC8_ENST00000358622.5_Missense_Mutation_p.N108S|TTC8_ENST00000380656.2_Missense_Mutation_p.N306S|TTC8_ENST00000354441.6_Missense_Mutation_p.N41S|TTC8_ENST00000536576.1_Missense_Mutation_p.N67S|TTC8_ENST00000338104.6_Missense_Mutation_p.N322S	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	332					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.N306S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAGGAAATGAACAATATGTCA	0.318																																						uc010ath.2																			1	Substitution - Missense(1)		lung(1)		0						c.(964-966)AAC>AGC		tetratricopeptide repeat domain 8 isoform B							83.0	79.0	81.0					14																	89336410		2203	4300	6503	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89336410A>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.887A>G	14.37:g.89336410A>G	ENSP00000339486:p.Asn296Ser					TTC8_uc001xxl.2_Missense_Mutation_p.N67S|TTC8_uc010ati.2_Missense_Mutation_p.N108S|TTC8_uc001xxm.2_Missense_Mutation_p.N266S|TTC8_uc010atj.2_Missense_Mutation_p.N41S|TTC8_uc001xxi.2_Missense_Mutation_p.N306S|TTC8_uc001xxj.2_Missense_Mutation_p.N296S|TTC8_uc001xxk.2_Missense_Mutation_p.N266S	p.N322S	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			11	1099	+			332			TPR 4.		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.965A>G	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.20|16.20	3.055494|3.055494	0.55325|0.55325	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.64085|.	0.73;-0.08;0.73;-0.08;0.61;0.73;-0.08|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72811|0.72811	0.3507|0.3507	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	P;P;D;P;B|.	0.76494|.	0.68;0.571;0.999;0.516;0.171|.	B;B;D;B;B|.	0.79108|.	0.136;0.378;0.992;0.124;0.124|.	T|T	0.72308|0.72308	-0.4332|-0.4332	10|5	0.38643|.	T|.	0.18|.	-18.2903|-18.2903	15.8117|15.8117	0.78571|0.78571	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	41;67;332;276;306|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	S|A	296;67;266;322;41;306;108|256	ENSP00000339486:N296S;ENSP00000445067:N67S;ENSP00000298324:N266S;ENSP00000337653:N322S;ENSP00000346427:N41S;ENSP00000370031:N306S;ENSP00000351439:N108S|.	ENSP00000337653:N322S|.	N|T	+|+	2|1	0|0	TTC8|TTC8	88406163|88406163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.619000|0.619000	0.37552|0.37552	8.889000|8.889000	0.92470|0.92470	2.134000|2.134000	0.65973|0.65973	0.454000|0.454000	0.30748|0.30748	AAC|ACA		PASS	0.318	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		11	41	11	41	---	---	---	---
GOLGA5	9950	broad.mit.edu	37	14	93273305	93273305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:93273305G>T	ENST00000163416.2	+	3	1025	c.769G>T	c.(769-771)Gaa>Taa	p.E257*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.E257*	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	257					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.E257*(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AGAGACTCAAGAAGGTAGAGG	0.418			T	RET	papillary thyroid																																	uc001yaz.1				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(769-771)GAA>TAA		Golgi autoantigen, golgin subfamily a, 5							66.0	68.0	67.0					14																	93273305		2203	4300	6503	SO:0001587	stop_gained	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93273305G>T	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.769G>T	14.37:g.93273305G>T	ENSP00000163416:p.Glu257*						p.E257*	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	3	951	+		all_cancers(154;0.0934)	257			Cytoplasmic (Potential).|Potential.		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Nonsense_Mutation	SNP	ENST00000163416.2	37	c.769G>T	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660536	0.96734	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	.	.	.	5.42	5.42	0.78866	.	0.000000	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-15.873	10.1315	0.42682	0.1489:0.0:0.8511:0.0	.	.	.	.	X	257;257;166	.	ENSP00000163416:E257X	E	+	1	0	GOLGA5	92343058	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	5.808000	0.69165	2.698000	0.92095	0.455000	0.32223	GAA		PASS	0.418	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			9	21	9	21	---	---	---	---
SERPINA9	327657	broad.mit.edu	37	14	94935745	94935745	+	Missense_Mutation	SNP	G	G	T	rs201258446		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:94935745G>T	ENST00000380365.3	-	2	511	c.433C>A	c.(433-435)Cag>Aag	p.Q145K	SERPINA9_ENST00000337425.5_Missense_Mutation_p.Q163K|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000424550.2_Missense_Mutation_p.Q14K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.Q127K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.Q65K|SERPINA9_ENST00000539349.1_5'Flank			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	145					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q163K(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAATTTGCCTGCAGCTGCAGC	0.522																																						uc001ydf.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(487-489)CAG>AAG		serine (or cysteine) proteinase inhibitor, clade							108.0	108.0	108.0					14																	94935745		1966	4162	6128	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935745G>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.433C>A	14.37:g.94935745G>T	ENSP00000369723:p.Gln145Lys					SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Missense_Mutation_p.Q14K|SERPINA9_uc001ydg.2_Missense_Mutation_p.Q127K|SERPINA9_uc001ydh.1_Missense_Mutation_p.Q163K|SERPINA9_uc001ydi.1_Missense_Mutation_p.Q127K	p.Q163K	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	648	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	145					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.487C>A		.	.	.	.	.	.	.	.	.	.	G	5.030	0.191202	0.09547	.	.	ENSG00000170054	ENST00000448305;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	3.97	3.0	0.34707	Serpin domain (3);	0.928562	0.08842	N	0.885687	T	0.72137	0.3423	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.31790	0.34;0.27;0.178;0.175	B;B;B;B	0.30401	0.108;0.115;0.108;0.07	T	0.64694	-0.6347	10	0.62326	D	0.03	.	11.4605	0.50208	0.0:0.0:0.6919:0.3081	.	127;145;65;163	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7	.;SPA9_HUMAN;.;.	K	65;14;163;145;127	ENSP00000414092:Q65K;ENSP00000409012:Q14K;ENSP00000337133:Q163K;ENSP00000369723:Q145K;ENSP00000445476:Q127K	ENSP00000337133:Q163K	Q	-	1	0	SERPINA9	94005498	0.013000	0.17824	0.805000	0.32314	0.354000	0.29330	1.104000	0.31074	1.941000	0.56285	0.462000	0.41574	CAG		PASS	0.522	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		12	100	12	100	---	---	---	---
SERPINA12	145264	broad.mit.edu	37	14	94964318	94964318	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:94964318G>T	ENST00000341228.2	-	3	1212	c.417C>A	c.(415-417)ttC>ttA	p.F139L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.F139L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	139					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F139L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCTGGTCAATGAACAGCGTGT	0.468																																						uc001ydj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(415-417)TTC>TTA		serine (or cysteine) proteinase inhibitor, clade							137.0	133.0	135.0					14																	94964318		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964318G>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.417C>A	14.37:g.94964318G>T	ENSP00000342109:p.Phe139Leu						p.F139L	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1213	-			139						Missense_Mutation	SNP	ENST00000341228.2	37	c.417C>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279703	0.59758	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.86562	-2.14;-2.14	5.49	-0.26	0.12967	Serpin domain (3);	0.092979	0.47455	N	0.000227	D	0.93595	0.7955	M	0.92555	3.32	0.32635	N	0.521504	D	0.89917	1.0	D	0.87578	0.998	D	0.93013	0.6433	10	0.87932	D	0	.	10.6943	0.45890	0.4894:0.0:0.5106:0.0	.	139	Q8IW75	SPA12_HUMAN	L	139	ENSP00000451738:F139L;ENSP00000342109:F139L	ENSP00000342109:F139L	F	-	3	2	SERPINA12	94034071	0.001000	0.12720	0.021000	0.16686	0.012000	0.07955	-0.206000	0.09398	-0.364000	0.08088	-0.136000	0.14681	TTC		PASS	0.468	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		11	79	11	79	---	---	---	---
SERPINA5	5104	broad.mit.edu	37	14	95053730	95053730	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:95053730C>T	ENST00000554866.1	+	2	145	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	SERPINA5_ENST00000553780.1_Missense_Mutation_p.L11F|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L11F|SERPINA5_ENST00000329597.7_Missense_Mutation_p.L11F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	11					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L11F(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTGCCTGGTGCTTCTCAGCCC	0.612																																						uc001ydm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(31-33)CTT>TTT		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						74.0	82.0	79.0					14																	95053730		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95053730C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.31C>T	14.37:g.95053730C>T	ENSP00000451126:p.Leu11Phe					SERPINA5_uc010ave.2_Missense_Mutation_p.L11F|SERPINA5_uc001ydn.1_Missense_Mutation_p.L11F	p.L11F	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	241	+			11					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.31C>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875607	0.33162	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554506;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598;ENST00000556064	D;D;D;D;D;T;T;T;T;D;T	0.88509	-1.7;-1.7;-2.39;-1.7;-1.7;-1.01;-1.01;-1.01;-1.01;-1.7;-1.01	4.43	2.6	0.31112	Serpin domain (1);	1.109350	0.07024	N	0.827255	T	0.80808	0.4694	N	0.08118	0	0.09310	N	0.999995	P;B	0.36587	0.559;0.266	B;B	0.40444	0.329;0.077	T	0.71846	-0.4469	10	0.72032	D	0.01	.	8.0499	0.30572	0.0:0.8074:0.0:0.1926	.	11;11	G3V5Q9;P05154	.;IPSP_HUMAN	F	11	ENSP00000450484:L11F;ENSP00000450837:L11F;ENSP00000452469:L11F;ENSP00000451126:L11F;ENSP00000333203:L11F;ENSP00000450745:L11F;ENSP00000451215:L11F;ENSP00000451697:L11F;ENSP00000451650:L11F;ENSP00000451610:L11F;ENSP00000450485:L11F	ENSP00000333203:L11F	L	+	1	0	SERPINA5	94123483	0.001000	0.12720	0.030000	0.17652	0.590000	0.36582	0.111000	0.15458	0.618000	0.30179	0.561000	0.74099	CTT		PASS	0.612	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		23	59	23	59	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95679563	95679563	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:95679563T>C	ENST00000298912.4	-	6	714	c.601A>G	c.(601-603)Acg>Gcg	p.T201A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	201	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T201A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TACTTTCTCGTTTTCCTCTGC	0.507																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)ACG>GCG		calmin							134.0	106.0	115.0					14																	95679563		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95679563T>C	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.601A>G	14.37:g.95679563T>C	ENSP00000298912:p.Thr201Ala						p.T201A	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	6	717	-			201			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.601A>G	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107708	0.56291	.	.	ENSG00000165959	ENST00000298912	D	0.95238	-3.65	5.15	5.15	0.70609	Calponin homology domain (5);	0.000000	0.40554	N	0.001075	D	0.96426	0.8834	M	0.77820	2.39	0.80722	D	1	D	0.63046	0.992	P	0.60286	0.872	D	0.96198	0.9143	10	0.45353	T	0.12	.	15.0003	0.71466	0.0:0.0:0.0:1.0	.	201	Q96JQ2	CLMN_HUMAN	A	201	ENSP00000298912:T201A	ENSP00000298912:T201A	T	-	1	0	CLMN	94749316	1.000000	0.71417	0.507000	0.27676	0.152000	0.21847	3.135000	0.50546	1.939000	0.56221	0.533000	0.62120	ACG		PASS	0.507	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			13	48	13	48	---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100173916	100173916	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:100173916G>A	ENST00000261835.3	+	7	698	c.594G>A	c.(592-594)ggG>ggA	p.G198G	CYP46A1_ENST00000423126.2_Silent_p.G101G|CYP46A1_ENST00000554176.1_Silent_p.G45G	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	198					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.G198G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CAGCTTTTGGGATGGAGACCA	0.577																																						uc001ygo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)GGG>GGA		cytochrome P450, family 46							107.0	94.0	98.0					14																	100173916		2203	4300	6503	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100173916G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.594G>A	14.37:g.100173916G>A						CYP46A1_uc001ygn.1_Silent_p.G160G|CYP46A1_uc001ygp.2_Silent_p.G45G	p.G198G	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			7	594	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	198					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.594G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939348	0.18281	.	.	ENSG00000036530	ENST00000380228	.	.	.	4.48	2.62	0.31277	.	.	.	.	.	T	0.54791	0.1880	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46470	-0.9189	4	.	.	.	.	6.696	0.23199	0.1004:0.1809:0.7187:0.0	.	.	.	.	N	185	.	.	D	+	1	0	CYP46A1	99243669	0.980000	0.34600	1.000000	0.80357	0.951000	0.60555	-0.134000	0.10436	0.575000	0.29434	-0.262000	0.10625	GAT		PASS	0.577	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			11	68	11	68	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103416104	103416104	+	Silent	SNP	G	G	A	rs145375683	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:103416104G>A	ENST00000361246.2	-	26	3735	c.3447C>T	c.(3445-3447)ctC>ctT	p.L1149L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.L1149L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACGCAGACCTGAGATCCAAGA	0.498																																						uc001ymi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3445-3447)CTC>CTT		CDC42-binding protein kinase beta							144.0	113.0	124.0					14																	103416104		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416104G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3447C>T	14.37:g.103416104G>A						CDC42BPB_uc001ymj.1_Silent_p.L251L	p.L1149L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	26	3679	-		Melanoma(154;0.155)	1149			PH.			Silent	SNP	ENST00000361246.2	37	c.3447C>T	CCDS9978.1																																																																																				PASS	0.498	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		18	25	18	25	---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105518189	105518189	+	Silent	SNP	C	C	A	rs573530505		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:105518189C>A	ENST00000329797.3	-	4	1196	c.285G>T	c.(283-285)ctG>ctT	p.L95L	GPR132_ENST00000392585.2_Silent_p.L86L|GPR132_ENST00000539291.2_Silent_p.L95L|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	95					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L95L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CCCAGAGTGGCAGCGTGCCTG	0.612																																						uc001yqd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(283-285)CTG>CTT		G protein-coupled receptor 132							136.0	127.0	130.0					14																	105518189		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518189C>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.285G>T	14.37:g.105518189C>A						GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Silent_p.L86L	p.L95L	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1184	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	95			Helical; Name=2; (Potential).		A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.285G>T	CCDS9997.1																																																																																				PASS	0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		24	120	24	120	---	---	---	---
IGHV1-18	28468	broad.mit.edu	37	14	106641665	106641665	+	RNA	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr14:106641665G>C	ENST00000390605.2	-	0	307									immunoglobulin heavy variable 1-18																		CTCTGCCCTGGAGCTTCTGTG	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							209.0	203.0	205.0					14																	106641665		2123	4226	6349			8755							g.chr14:106641665G>C	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641665G>C														1021		-									RNA	SNP	ENST00000390605.2	37	c.24336C>G																																																																																					PASS	0.552	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		33	162	33	162	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369506	22369506	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:22369506A>T	ENST00000332663.2	+	1	1029	c.931A>T	c.(931-933)Aaa>Taa	p.K311*	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K311*(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TATTTTGTGTAAAGAGAAGTG	0.343																																						uc010tzu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(931-933)AAA>TAA		olfactory receptor, family 4, subfamily M,							50.0	44.0	46.0					15																	22369506		2200	4298	6498	SO:0001587	stop_gained	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369506A>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.931A>T	15.37:g.22369506A>T	ENSP00000329467:p.Lys311*					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.K311*	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	931	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	311			Cytoplasmic (Potential).		B9EH16|Q6IEY2	Nonsense_Mutation	SNP	ENST00000332663.2	37	c.931A>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.079674	0.36662	.	.	ENSG00000182974	ENST00000332663	.	.	.	2.13	2.13	0.27403	.	0.244803	0.29073	N	0.013227	.	.	.	.	.	.	0.21652	N	0.999609	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-0.0527	7.9114	0.29793	1.0:0.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000329467:K311X	K	+	1	0	OR4M2	19870870	1.000000	0.71417	0.877000	0.34402	0.115000	0.19883	2.793000	0.47845	0.992000	0.38840	0.368000	0.22195	AAA		PASS	0.343	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			3	27	3	27	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23889445	23889445	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:23889445G>A	ENST00000532292.1	-	1	1730	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	429					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.L546F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTTCCAAAGAGACCGTTTGTC	0.458																																						uc001ywj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1636-1638)CTC>TTC		MAGE-like protein 2							46.0	46.0	46.0					15																	23889445		1883	4106	5989	SO:0001583	missense	54551							g.chr15:23889445G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1636C>T	15.37:g.23889445G>A	ENSP00000433433:p.Leu546Phe						p.L546F	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1731	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1636C>T																																																																																					PASS	0.458	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		10	16	10	16	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921123	24921123	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:24921123C>A	ENST00000329468.2	+	1	583	c.109C>A	c.(109-111)Cgg>Agg	p.R37R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	37			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R37R(1)									CCCGCCCGGTCGGGCTCACTC	0.711																																						uc001ywo.2																			1	Substitution - coding silent(1)	p.R37Q(1)	lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(109-111)CGG>AGG		hypothetical protein LOC23742							8.0	11.0	10.0					15																	24921123		2084	4091	6175	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921123C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.109C>A	15.37:g.24921123C>A							p.R37R	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	583	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	37		R -> Q (in a colorectal cancer sample; somatic mutation).				Silent	SNP	ENST00000329468.2	37	c.109C>A	CCDS10015.1																																																																																				PASS	0.711	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	13	5	13	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26806186	26806186	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:26806186C>G	ENST00000311550.5	-	8	1084	c.973G>C	c.(973-975)Gcc>Ccc	p.A325P	GABRB3_ENST00000299267.4_Missense_Mutation_p.A325P|GABRB3_ENST00000545868.1_Missense_Mutation_p.A240P|GABRB3_ENST00000400188.3_Missense_Mutation_p.A254P|GABRB3_ENST00000541819.2_Missense_Mutation_p.A381P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	325					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.A325P(2)|p.A381P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGACAAAGGCATACTCCAGA	0.483																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(973-975)GCC>CCC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						154.0	153.0	153.0					15																	26806186		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806186C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.973G>C	15.37:g.26806186C>G	ENSP00000308725:p.Ala325Pro					GABRB3_uc010uae.1_Missense_Mutation_p.A240P|GABRB3_uc001zba.2_Missense_Mutation_p.A325P|GABRB3_uc001zbb.2_Missense_Mutation_p.A381P	p.A325P	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1115	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	325			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.973G>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188782	0.94923	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.047817	0.85682	D	0.000000	D	0.95884	0.8660	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.96862	0.9633	10	0.87932	D	0	.	17.7373	0.88397	0.0:1.0:0.0:0.0	.	381;325;325	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	P	325;381;325;254;240	ENSP00000308725:A325P;ENSP00000442408:A381P;ENSP00000299267:A325P;ENSP00000383049:A254P;ENSP00000439169:A240P	ENSP00000299267:A325P	A	-	1	0	GABRB3	24357279	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.707000	0.84623	2.416000	0.81992	0.655000	0.94253	GCC		PASS	0.483	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			18	50	18	50	---	---	---	---
GREM1	26585	broad.mit.edu	37	15	33022978	33022979	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:33022978_33022979CC>TG	ENST00000300177.4	+	2	276_277	c.87_88CC>TG	c.(85-90)tcCCaa>tcTGaa	p.Q30E	GREM1_ENST00000322805.4_Missense_Mutation_p.Q30E|GREM1_ENST00000560677.1_Missense_Mutation_p.Q30E|GREM1_ENST00000560830.1_Missense_Mutation_p.Q30E	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	30					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.Q30E(2)|p.S29S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		AGAAAGGGTCCCAAGGTGCCAT	0.629																																						uc001zhe.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(85-87)TCC>TCT|c.(88-90)CAA>GAA		gremlin-1 precursor																																				SO:0001583	missense	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33022978C>T|g.chr15:33022979C>G		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	Exception_encountered	15.37:g.33022978_33022979delinsTG	ENSP00000300177:p.Gln30Glu					GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Silent_p.S29S|GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Missense_Mutation_p.Q30E	p.S29S|p.Q30E	NM_013372	NP_037504	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	246|247	+		all_lung(180;1.49e-09)	29|30					Q52LV3|Q8N914|Q8N936	Silent|Missense_Mutation	SNP	ENST00000300177.4	37	c.87C>T|c.88C>G	CCDS10029.1																																																																																				PASS	0.629	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		10|9	13	9	13	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45456010	45456010	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:45456010A>G	ENST00000321429.4	+	34	4834	c.4427A>G	c.(4426-4428)cAg>cGg	p.Q1476R	DUOX1_ENST00000561166.1_Missense_Mutation_p.Q1122R|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1476R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1476					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.Q1476R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGGCACTTCCAGAAGGTTCTG	0.562											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zus.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(4426-4428)CAG>CGG		dual oxidase 1 precursor							139.0	124.0	129.0					15																	45456010		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45456010A>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4427A>G	15.37:g.45456010A>G	ENSP00000317997:p.Gln1476Arg		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_uc001zut.1_Missense_Mutation_p.Q1476R|DUOX1_uc010bee.1_Missense_Mutation_p.Q856R	p.Q1476R	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	34	4773	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1476			Cytoplasmic (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4427A>G	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.439383	0.83885	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95103	-3.61;-3.61	4.21	4.21	0.49690	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94746	0.7923	10	0.48119	T	0.1	-24.9814	11.2976	0.49288	1.0:0.0:0.0:0.0	.	1476	Q9NRD9	DUOX1_HUMAN	R	1476	ENSP00000317997:Q1476R;ENSP00000373689:Q1476R	ENSP00000317997:Q1476R	Q	+	2	0	DUOX1	43243302	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.960000	0.93117	1.764000	0.52075	0.402000	0.26972	CAG		PASS	0.562	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		35	50	35	50	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48726794	48726794	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:48726794C>T	ENST00000316623.5	-	54	7068	c.6613G>A	c.(6613-6615)Gaa>Aaa	p.E2205K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2205	EGF-like 37; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2205K(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GATGTACCTTCACATGTCATC	0.418																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(6613-6615)GAA>AAA		fibrillin 1 precursor							132.0	113.0	120.0					15																	48726794		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48726794C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6613G>A	15.37:g.48726794C>T	ENSP00000325527:p.Glu2205Lys					FBN1_uc010beo.1_RNA	p.E2205K	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	54	6941	-		all_lung(180;0.00279)	2205			EGF-like 37; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6613G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.817270	0.96982	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.87491	-2.26	6.07	6.07	0.98685	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.044485	0.85682	D	0.000000	D	0.92990	0.7769	M	0.65498	2.005	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.91927	0.5552	10	0.51188	T	0.08	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	2205	P35555	FBN1_HUMAN	K	2205;773;1095	ENSP00000325527:E2205K	ENSP00000325527:E2205K	E	-	1	0	FBN1	46514086	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAA		PASS	0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			17	38	17	38	---	---	---	---
SLC27A2	11001	broad.mit.edu	37	15	50474976	50474976	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:50474976G>T	ENST00000267842.5	+	1	584	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.V118L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	118					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V118L(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GCCGGCCTACGTGTGGCTGTG	0.667																																						uc001zxw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(352-354)GTG>TTG		solute carrier family 27 (fatty acid							77.0	86.0	83.0					15																	50474976		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50474976G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.352G>T	15.37:g.50474976G>T	ENSP00000267842:p.Val118Leu					SLC27A2_uc010bes.2_Missense_Mutation_p.V118L	p.V118L	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	1	584	+		all_lung(180;0.00177)	118			Helical; (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.352G>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335596	0.41398	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.42900	0.96;0.96	4.94	0.86	0.19042	AMP-dependent synthetase/ligase (1);	0.510139	0.18738	N	0.132524	T	0.19644	0.0472	N	0.17379	0.485	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.19391	0.016;0.025	T	0.07693	-1.0759	10	0.20519	T	0.43	.	1.6331	0.02737	0.1622:0.1392:0.4125:0.2861	.	118;118	Q6PF09;O14975	.;S27A2_HUMAN	L	118	ENSP00000370289:V118L;ENSP00000267842:V118L	ENSP00000267842:V118L	V	+	1	0	SLC27A2	48262268	0.117000	0.22190	0.997000	0.53966	0.998000	0.95712	-0.251000	0.08818	-0.020000	0.14032	0.561000	0.74099	GTG		PASS	0.667	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		19	78	19	78	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62228845	62228845	+	Silent	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:62228845A>T	ENST00000261517.5	-	48	5779	c.5706T>A	c.(5704-5706)acT>acA	p.T1902T	VPS13C_ENST00000395898.3_Silent_p.T1859T|VPS13C_ENST00000395896.4_Silent_p.T1902T|VPS13C_ENST00000249837.3_Silent_p.T1859T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.T1902T(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCACTCTTACAGTCTCCTGCA	0.363																																						uc002agz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(5704-5706)ACT>ACA		vacuolar protein sorting 13C protein isoform 2A							75.0	75.0	75.0					15																	62228845		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62228845A>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5706T>A	15.37:g.62228845A>T						VPS13C_uc002aha.2_Silent_p.T1859T|VPS13C_uc002ahb.1_Silent_p.T1902T|VPS13C_uc002ahc.1_Silent_p.T1859T	p.T1902T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			48	5780	-			1902						Silent	SNP	ENST00000261517.5	37	c.5706T>A	CCDS32257.1																																																																																				PASS	0.363	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		7	16	7	16	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63000967	63000967	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:63000967G>T	ENST00000561311.1	+	20	2669	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	TLN2_ENST00000306829.6_Missense_Mutation_p.E813D			Q9Y4G6	TLN2_HUMAN	talin 2	813					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E813D(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGTCACCGAGAGCATCTTCA	0.592																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(2437-2439)GAG>GAT		talin 2							70.0	67.0	68.0					15																	63000967		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63000967G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2439G>T	15.37:g.63000967G>T	ENSP00000453508:p.Glu813Asp						p.E813D	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			18	2439	+			813					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2439G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.277660	0.23307	.	.	ENSG00000171914	ENST00000306829	T	0.66995	-0.24	4.97	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	N	0.13098	0.295	0.49915	D	0.999838	B	0.09022	0.002	B	0.12837	0.008	T	0.34527	-0.9825	10	0.06757	T	0.87	-33.4492	13.4722	0.61287	0.0762:0.0:0.9238:0.0	.	813	Q9Y4G6	TLN2_HUMAN	D	813	ENSP00000303476:E813D	ENSP00000303476:E813D	E	+	3	2	TLN2	60788259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.549000	0.60726	1.221000	0.43506	0.655000	0.94253	GAG		PASS	0.592	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			5	13	5	13	---	---	---	---
FEM1B	10116	broad.mit.edu	37	15	68570955	68570955	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:68570955A>G	ENST00000306917.4	+	1	815	c.200A>G	c.(199-201)gAa>gGa	p.E67G	RP11-315D16.4_ENST00000563057.1_lincRNA	NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	67					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.E67G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTGCTCTTAGAACATTACCGG	0.602																																						uc002arg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)GAA>GGA		fem-1 homolog b							86.0	80.0	82.0					15																	68570955		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68570955A>G		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.200A>G	15.37:g.68570955A>G	ENSP00000307298:p.Glu67Gly						p.E67G	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN			1	815	+			67			ANK 1.		O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.200A>G	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.610081	0.66558	.	.	ENSG00000169018	ENST00000306917	T	0.65732	-0.17	4.38	4.38	0.52667	Ankyrin repeat-containing domain (3);	0.055893	0.64402	D	0.000001	T	0.53238	0.1784	L	0.39633	1.23	0.54753	D	0.999989	B	0.31705	0.336	B	0.33960	0.173	T	0.54077	-0.8347	10	0.37606	T	0.19	-17.7985	12.5868	0.56423	1.0:0.0:0.0:0.0	.	67	Q9UK73	FEM1B_HUMAN	G	67	ENSP00000307298:E67G	ENSP00000307298:E67G	E	+	2	0	FEM1B	66358009	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	6.905000	0.75714	1.847000	0.53656	0.454000	0.30748	GAA		PASS	0.602	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			9	21	9	21	---	---	---	---
THAP10	56906	broad.mit.edu	37	15	71184576	71184576	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:71184576G>A	ENST00000249861.4	-	1	548	c.36C>T	c.(34-36)aaC>aaT	p.N12N	LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_5'Flank|LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	12							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N12N(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACTTGGTGGTGTTGCCGCAGT	0.711																																						uc002asv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(34-36)AAC>AAT		THAP domain containing 10							9.0	12.0	11.0					15																	71184576		2179	4271	6450	SO:0001819	synonymous_variant	56906						DNA binding|metal ion binding	g.chr15:71184576G>A	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.36C>T	15.37:g.71184576G>A						LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	p.N12N	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN			1	178	-			12			THAP-type.		B2R8R0	Silent	SNP	ENST00000249861.4	37	c.36C>T	CCDS10237.1																																																																																				PASS	0.711	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		4	6	4	6	---	---	---	---
C15orf27	123591	broad.mit.edu	37	15	76430220	76430220	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:76430220G>C	ENST00000388942.3	+	3	487	c.211G>C	c.(211-213)Gat>Cat	p.D71H		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	71					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)	p.D71H(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCTGGACGAAGATTACCAAAG	0.572																																						uc002bbq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GAT>CAT		hypothetical protein LOC123591							58.0	61.0	60.0					15																	76430220		1962	4150	6112	SO:0001583	missense	123591					integral to membrane		g.chr15:76430220G>C	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.211G>C	15.37:g.76430220G>C	ENSP00000373594:p.Asp71His					C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	p.D71H	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			3	366	+			71					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.211G>C	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106668	0.77096	.	.	ENSG00000169758	ENST00000388942	T	0.34072	1.38	5.45	5.45	0.79879	.	0.213244	0.31507	N	0.007534	T	0.47322	0.1439	L	0.40543	1.245	0.40520	D	0.980828	D	0.56287	0.975	P	0.56960	0.81	T	0.48547	-0.9026	10	0.87932	D	0	-7.8109	16.4487	0.83972	0.0:0.0:1.0:0.0	.	71	Q2M3C6	CO027_HUMAN	H	71	ENSP00000373594:D71H	ENSP00000373594:D71H	D	+	1	0	C15orf27	74217275	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	8.855000	0.92236	2.544000	0.85801	0.650000	0.86243	GAT		PASS	0.572	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		14	24	14	24	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79382708	79382708	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:79382708C>A	ENST00000419573.3	-	1	407	c.133G>T	c.(133-135)Gcg>Tcg	p.A45S	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A45S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	45	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A45S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCAGCAGCGCGAACCACTTG	0.647																																						uc002beq.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(133-135)GCG>TCG		Ras protein-specific guanine							156.0	117.0	131.0					15																	79382708		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79382708C>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.133G>T	15.37:g.79382708C>A	ENSP00000405963:p.Ala45Ser					RASGRF1_uc002bep.2_Missense_Mutation_p.A45S|RASGRF1_uc002ber.3_Missense_Mutation_p.A45S	p.A45S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			1	508	-			45			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.133G>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.515993	0.85495	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.11821	2.74	4.03	4.03	0.46877	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000003	T	0.30541	0.0768	L	0.54323	1.7	0.80722	D	1	D;D;D	0.62365	0.981;0.991;0.989	D;D;D	0.69142	0.933;0.962;0.918	T	0.03268	-1.1054	10	0.72032	D	0.01	.	13.7316	0.62792	0.0:1.0:0.0:0.0	.	45;45;45	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	S	45	ENSP00000405963:A45S	ENSP00000378224:A45S	A	-	1	0	RASGRF1	77169763	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.953000	0.56699	2.091000	0.63221	0.313000	0.20887	GCG		PASS	0.647	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		47	63	47	63	---	---	---	---
BNC1	646	broad.mit.edu	37	15	83936916	83936916	+	Silent	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:83936916A>G	ENST00000345382.2	-	2	253	c.168T>C	c.(166-168)tgT>tgC	p.C56C	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.C49C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	56					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C56C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGCATTGGTCACACTGACGGT	0.448																																						uc002bjt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(166-168)TGT>TGC		basonuclin 1							123.0	121.0	122.0					15																	83936916		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83936916A>G	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.168T>C	15.37:g.83936916A>G						BNC1_uc010uos.1_Silent_p.C44C	p.C56C	NM_001717	NP_001708	Q01954	BNC1_HUMAN			2	256	-			56					Q15840	Silent	SNP	ENST00000345382.2	37	c.168T>C	CCDS10324.1																																																																																				PASS	0.448	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		12	28	12	28	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383912	85383912	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:85383912C>G	ENST00000258888.5	+	5	2175	c.2008C>G	c.(2008-2010)Cac>Gac	p.H670D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	670					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H670D(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAGCCCACACACTCCTTGAC	0.632																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2008-2010)CAC>GAC		alpha-kinase 3							39.0	38.0	38.0					15																	85383912		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383912C>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2008C>G	15.37:g.85383912C>G	ENSP00000258888:p.His670Asp						p.H670D	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2175	+			670					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2008C>G	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	7.935	0.741619	0.15642	.	.	ENSG00000136383	ENST00000258888	T	0.58797	0.31	4.71	0.384	0.16244	.	2.441790	0.01261	N	0.009180	T	0.34193	0.0889	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12400	-1.0549	10	0.33141	T	0.24	-0.7898	0.93	0.01333	0.1842:0.4146:0.1793:0.222	.	670	Q96L96	ALPK3_HUMAN	D	670	ENSP00000258888:H670D	ENSP00000258888:H670D	H	+	1	0	ALPK3	83184916	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.087000	0.11215	-0.082000	0.12640	0.557000	0.71058	CAC		PASS	0.632	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		15	26	15	26	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89401963	89401963	+	Silent	SNP	T	T	C	rs373971849		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:89401963T>C	ENST00000561243.1	+	11	6147	c.6147T>C	c.(6145-6147)acT>acC	p.T2049T	ACAN_ENST00000559004.1_Silent_p.T2049T|ACAN_ENST00000352105.7_Silent_p.T2049T|ACAN_ENST00000439576.2_Silent_p.T2049T			P16112	PGCA_HUMAN	aggrecan	2057	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.T1935T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGAACCAACTATTTCTCAGG	0.507																																						uc010upo.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(6145-6147)ACT>ACC		aggrecan isoform 2 precursor		T	,	1,3739		0,1,1869	45.0	44.0	44.0		6147,6147	-4.8	0.6	15		44	0,8234		0,0,4117	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	0,1,5986	CC,CT,TT		0.0,0.0267,0.0084	,	2049/2432,2049/2531	89401963	1,11973	1870	4117	5987	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401963T>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6147T>C	15.37:g.89401963T>C						ACAN_uc010upp.1_Silent_p.T2049T|ACAN_uc002bna.2_RNA	p.T2049T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6521	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2049					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6147T>C	CCDS53970.1																																																																																				PASS	0.507	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	15	4	15	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1639764	1639764	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:1639764C>A	ENST00000426508.2	-	7	1015	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	218					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.D218Y(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCCTTCTCATCCACATAGTGC	0.537																																						uc002cmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(652-654)GAT>TAT		intraflagellar transport 140							135.0	97.0	110.0					16																	1639764		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1639764C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.652G>T	16.37:g.1639764C>A	ENSP00000406012:p.Asp218Tyr						p.D218Y	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			7	1014	-		Hepatocellular(780;0.219)	218					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.652G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747586	0.49257	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.49432	0.78	4.87	4.87	0.63330	WD40 repeat-like-containing domain (1);	0.051498	0.85682	D	0.000000	T	0.64327	0.2588	M	0.80183	2.485	0.53688	D	0.999974	D	0.89917	1.0	D	0.65443	0.935	T	0.68318	-0.5440	10	0.72032	D	0.01	.	7.1503	0.25606	0.0:0.8042:0.0:0.1958	.	218	Q96RY7	IF140_HUMAN	Y	218	ENSP00000406012:D218Y	ENSP00000380562:D218Y	D	-	1	0	IFT140	1579765	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.474000	0.53129	2.247000	0.74100	0.313000	0.20887	GAT		PASS	0.537	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		27	48	27	48	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2161421	2161421	+	Silent	SNP	G	G	A	rs148021876	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:2161421G>A	ENST00000262304.4	-	15	3955	c.3747C>T	c.(3745-3747)gaC>gaT	p.D1249D	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.D1249D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1249	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.D1249D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACGGTGCCGTCCCCCATGT	0.706																																						uc002cos.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(3745-3747)GAC>GAT		polycystin 1 isoform 1 precursor		G	,	0,4198		0,0,2099	21.0	19.0	20.0		3747,3747	-2.5	1.0	16	dbSNP_134	20	2,8280		0,2,4139	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,2,6238	AA,AG,GG		0.0241,0.0,0.016	,	1249/4303,1249/4304	2161421	2,12478	2099	4141	6240	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161421G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3747C>T	16.37:g.2161421G>A						PKD1_uc002cot.1_Silent_p.D1249D	p.D1249D	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	3956	-			1249			PKD 7.|Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.3747C>T	CCDS32369.1																																																																																				PASS	0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	21	5	21	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2806447	2806447	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:2806447G>T	ENST00000301740.8	+	2	631	c.82G>T	c.(82-84)Ggc>Tgc	p.G28C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	28					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.G28C(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGGTGCGGGGCCGCCGGGG	0.711																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(82-84)GGC>TGC		splicing coactivator subunit SRm300							16.0	18.0	17.0					16																	2806447		2188	4290	6478	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2806447G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.82G>T	16.37:g.2806447G>T	ENSP00000301740:p.Gly28Cys					SRRM2_uc002crj.1_Intron|SRRM2_uc002crl.1_Missense_Mutation_p.G28C|SRRM2_uc010bsu.1_Intron	p.G28C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			2	631	+			28					A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.82G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.623135	0.28889	.	.	ENSG00000167978	ENST00000301740;ENST00000382301	T	0.24151	1.87	4.2	4.2	0.49525	.	0.000000	0.46145	D	0.000320	T	0.37461	0.1004	L	0.34521	1.04	0.39867	D	0.973452	D	0.89917	1.0	D	0.91635	0.999	T	0.18053	-1.0349	10	0.49607	T	0.09	-9.9519	11.8891	0.52618	0.0:0.0:1.0:0.0	.	28	Q9UQ35	SRRM2_HUMAN	C	28	ENSP00000301740:G28C	ENSP00000301740:G28C	G	+	1	0	SRRM2	2746448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.808000	0.62583	2.135000	0.66039	0.555000	0.69702	GGC		PASS	0.711	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	18	7	18	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3613666	3613666	+	RNA	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:3613666A>T	ENST00000301749.7	-	0	1677				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G471G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGAGGTCTACACCAAACGCCT	0.587																																						uc010btn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1270-1272)GGT>GGA		NOD3 protein							59.0	61.0	60.0					16																	3613666		2040	4184	6224			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613666A>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613666A>T							p.G424G	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	1683	-			424			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37	c.1272T>A																																																																																					PASS	0.587	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		5	17	5	17	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3900414	3900414	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:3900414T>C	ENST00000262367.5	-	2	1491	c.682A>G	c.(682-684)Act>Gct	p.T228A	CREBBP_ENST00000382070.3_Missense_Mutation_p.T228A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	228	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T228A(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGGCTGGAGTAGGGTACGGC	0.592			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(682-684)ACT>GCT		CREB binding protein isoform a							92.0	82.0	85.0					16																	3900414		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3900414T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.682A>G	16.37:g.3900414T>C	ENSP00000262367:p.Thr228Ala					CREBBP_uc002cvw.2_Missense_Mutation_p.T228A	p.T228A	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	886	-		Ovarian(90;0.0266)	228			Interaction with SRCAP.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.682A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577959	0.28180	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82433	-1.61;-1.54	6.01	-1.4	0.08968	.	0.578848	0.18175	N	0.149313	T	0.55705	0.1937	N	0.14661	0.345	0.22378	N	0.999154	B;B	0.16802	0.015;0.019	B;B	0.15484	0.013;0.003	T	0.46386	-0.9195	10	0.05525	T	0.97	-0.2045	0.6943	0.00896	0.2419:0.3398:0.1183:0.3	.	296;228	Q4LE28;Q92793	.;CBP_HUMAN	A	228;296;228	ENSP00000262367:T228A;ENSP00000371502:T228A	ENSP00000262367:T228A	T	-	1	0	CREBBP	3840415	0.016000	0.18221	0.190000	0.23270	0.997000	0.91878	0.089000	0.15002	-0.476000	0.06842	0.528000	0.53228	ACT		PASS	0.592	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		18	48	18	48	---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4747987	4747987	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:4747987G>A	ENST00000304283.4	-	15	2095	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	ANKS3_ENST00000446014.2_Missense_Mutation_p.P472S|ANKS3_ENST00000585773.1_Missense_Mutation_p.P528S	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	601								p.P601S(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCAGCTGGGGGGACGGCTAGG	0.617																																						uc002cxj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1801-1803)CCC>TCC		ankyrin repeat and sterile alpha motif domain							17.0	15.0	16.0					16																	4747987		2192	4293	6485	SO:0001583	missense	124401							g.chr16:4747987G>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1801C>T	16.37:g.4747987G>A	ENSP00000304586:p.Pro601Ser					ANKS3_uc010uxr.1_Missense_Mutation_p.P124S|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Missense_Mutation_p.P528S|ANKS3_uc002cxk.2_Missense_Mutation_p.P472S|ANKS3_uc002cxl.2_Missense_Mutation_p.P428S|ANKS3_uc010uxs.1_Missense_Mutation_p.P528S	p.P601S	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			15	2096	-			601					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.1801C>T	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920192	0.33908	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.32272	1.46;3.21	4.78	2.8	0.32819	.	0.707125	0.13394	N	0.391172	T	0.25082	0.0609	L	0.57536	1.79	0.19300	N	0.999975	B	0.26975	0.165	B	0.21360	0.034	T	0.27606	-1.0069	10	0.11485	T	0.65	-0.3094	8.448	0.32854	0.1856:0.0:0.8144:0.0	.	601	Q6ZW76	ANKS3_HUMAN	S	601;472	ENSP00000304586:P601S;ENSP00000406796:P472S	ENSP00000304586:P601S	P	-	1	0	ANKS3	4687988	0.019000	0.18553	0.001000	0.08648	0.004000	0.04260	1.511000	0.35801	0.541000	0.28827	0.462000	0.41574	CCC		PASS	0.617	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		3	4	3	4	---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5046873	5046873	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:5046873C>T	ENST00000251170.7	+	8	978	c.798C>T	c.(796-798)caC>caT	p.H266H		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	266						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.H266H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AAGATGAGCACATCCTTCGGT	0.547																																						uc002cye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)CAC>CAT		SEC14-like 5							78.0	76.0	77.0					16																	5046873		1911	4122	6033	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5046873C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.798C>T	16.37:g.5046873C>T							p.H266H	NM_014692	NP_055507	O43304	S14L5_HUMAN			8	978	+			266						Silent	SNP	ENST00000251170.7	37	c.798C>T	CCDS45403.1																																																																																				PASS	0.547	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			4	13	4	13	---	---	---	---
ALG1	56052	broad.mit.edu	37	16	5127927	5127927	+	Missense_Mutation	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:5127927A>C	ENST00000262374.5	+	6	680	c.649A>C	c.(649-651)Aag>Cag	p.K217Q	ALG1_ENST00000544428.1_Missense_Mutation_p.K106Q|ALG1_ENST00000588623.1_Missense_Mutation_p.K106Q	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	217					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.K217Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CGTCTACGACAAGCCCGCATC	0.567																																						uc002cym.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(649-651)AAG>CAG		beta-1,4-mannosyltransferase							67.0	68.0	68.0					16																	5127927		2197	4300	6497	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5127927A>C	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.649A>C	16.37:g.5127927A>C	ENSP00000262374:p.Lys217Gln					ALG1_uc002cyj.2_Missense_Mutation_p.K106Q|ALG1_uc002cyn.2_Missense_Mutation_p.K217Q|ALG1_uc010bue.2_Missense_Mutation_p.K106Q|ALG1_uc010uxy.1_Missense_Mutation_p.K106Q	p.K217Q	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			6	690	+		Ovarian(90;0.0164)	217			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.649A>C	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486691	0.44249	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	T;T	0.75154	-0.91;-0.91	5.46	4.33	0.51752	.	0.266247	0.42682	D	0.000668	T	0.80265	0.4591	M	0.75447	2.3	0.43708	D	0.996171	P;D	0.55605	0.956;0.972	P;P	0.54924	0.575;0.764	T	0.82279	-0.0536	10	0.66056	D	0.02	-17.5038	10.0685	0.42319	0.8502:0.0:0.0:0.1498	.	106;217	B4DP08;Q9BT22	.;ALG1_HUMAN	Q	217;106	ENSP00000262374:K217Q;ENSP00000440019:K106Q	ENSP00000262374:K217Q	K	+	1	0	ALG1	5067928	1.000000	0.71417	0.997000	0.53966	0.002000	0.02628	2.466000	0.45084	2.087000	0.62958	0.454000	0.30748	AAG		PASS	0.567	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		22	72	22	72	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7568385	7568385	+	Silent	SNP	C	C	G	rs202136920		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:7568385C>G	ENST00000550418.1	+	5	1252	c.264C>G	c.(262-264)acC>acG	p.T88T	RBFOX1_ENST00000547372.1_Silent_p.T131T|RBFOX1_ENST00000311745.5_Silent_p.T108T|RBFOX1_ENST00000422070.4_Silent_p.T131T|RBFOX1_ENST00000340209.4_Silent_p.T93T|RBFOX1_ENST00000535565.2_Silent_p.T124T|RBFOX1_ENST00000553186.1_Silent_p.T88T|RBFOX1_ENST00000355637.4_Silent_p.T108T|RBFOX1_ENST00000547338.1_Silent_p.T88T|RBFOX1_ENST00000552089.1_Silent_p.T124T|RBFOX1_ENST00000436368.2_Silent_p.T108T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	88					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.T108T(4)|p.T88T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCTCTGGCACCGCCACAGTAA	0.652																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			5	Substitution - coding silent(5)		lung(3)|large_intestine(2)		0						c.(262-264)ACC>ACG		ataxin 2-binding protein 1 isoform 4							68.0	67.0	68.0					16																	7568385		2197	4298	6495	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568385C>G	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.264C>G	16.37:g.7568385C>G						A2BP1_uc010buf.1_Silent_p.T88T|A2BP1_uc002cyr.1_Silent_p.T88T|A2BP1_uc002cyt.2_Silent_p.T88T|A2BP1_uc010uxz.1_Silent_p.T131T|A2BP1_uc010uya.1_Silent_p.T124T|A2BP1_uc002cyv.1_Silent_p.T88T|A2BP1_uc010uyb.1_Silent_p.T88T|A2BP1_uc002cyw.2_Silent_p.T108T|A2BP1_uc002cyy.2_Silent_p.T108T|A2BP1_uc002cyx.2_Silent_p.T108T|A2BP1_uc010uyc.1_Silent_p.T108T	p.T88T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1252	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	88					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.264C>G	CCDS55983.1																																																																																				PASS	0.652	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		20	77	20	77	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11145375	11145375	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:11145375G>A	ENST00000409790.1	+	18	2102	c.1872G>A	c.(1870-1872)aaG>aaA	p.K624K	CLEC16A_ENST00000409552.3_Silent_p.K606K|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)|p.K624K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTAGATGAAGCCCATGAACG	0.572																																						uc002dao.2																			2	Whole gene deletion(1)|Substitution - coding silent(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1870-1872)AAG>AAA		C-type lectin domain family 16, member A							125.0	128.0	127.0					16																	11145375		1979	4158	6137	SO:0001819	synonymous_variant	23274							g.chr16:11145375G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1872G>A	16.37:g.11145375G>A						CLEC16A_uc002dan.3_Silent_p.K606K	p.K624K	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			18	2102	+			624						Silent	SNP	ENST00000409790.1	37	c.1872G>A	CCDS45409.1																																																																																				PASS	0.572	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		25	91	25	91	---	---	---	---
CPPED1	55313	broad.mit.edu	37	16	12758889	12758889	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:12758889T>A	ENST00000381774.4	-	4	1039	c.799A>T	c.(799-801)Att>Ttt	p.I267F	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Missense_Mutation_p.I125F	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	267						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.I267F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGCATCCAATGGCAGATGAC	0.557																																						uc002dca.3																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)ATT>TTT		calcineurin-like phosphoesterase domain							69.0	69.0	69.0					16																	12758889		1953	4171	6124	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12758889T>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.799A>T	16.37:g.12758889T>A	ENSP00000371193:p.Ile267Phe					CPPED1_uc002dcb.3_Missense_Mutation_p.I125F|CPPED1_uc002dbz.3_RNA	p.I267F	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			4	910	-			267					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.799A>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234510	0.79800	.	.	ENSG00000103381	ENST00000381774;ENST00000433677	T;D	0.94417	-0.35;-3.42	5.65	5.65	0.86999	.	0.239573	0.47455	D	0.000226	D	0.96914	0.8992	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.97	D;P	0.80764	0.994;0.68	D	0.97332	0.9951	10	0.72032	D	0.01	-11.2682	14.1241	0.65208	0.0:0.0:0.0:1.0	.	125;267	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	F	267;125	ENSP00000371193:I267F;ENSP00000411127:I125F	ENSP00000371193:I267F	I	-	1	0	CPPED1	12666390	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.894000	0.69806	2.279000	0.76181	0.533000	0.62120	ATT		PASS	0.557	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		3	55	3	55	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20331035	20331035	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:20331035A>G	ENST00000381362.4	-	7	999	c.923T>C	c.(922-924)aTc>aCc	p.I308T	GP2_ENST00000341642.5_Missense_Mutation_p.I158T|GP2_ENST00000381360.5_Missense_Mutation_p.I161T|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000302555.5_Missense_Mutation_p.I305T	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	308	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.I305T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTCTCTGATGATGAAATCATT	0.433																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(922-924)ATC>ACC		zymogen granule membrane glycoprotein 2 isoform							448.0	413.0	424.0					16																	20331035		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331035A>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.923T>C	16.37:g.20331035A>G	ENSP00000370767:p.Ile308Thr					GP2_uc002dgw.2_Missense_Mutation_p.I305T|GP2_uc002dgx.2_Missense_Mutation_p.I161T|GP2_uc002dgy.2_Missense_Mutation_p.I158T	p.I308T	NM_001007240	NP_001007241	P55259	GP2_HUMAN			7	1006	-			308			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.923T>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349575	0.61183	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.23	5.23	0.72850	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.92502	0.7619	M	0.85710	2.77	0.42714	D	0.993659	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.982;0.992;0.997;0.995	D	0.93633	0.6958	9	0.72032	D	0.01	-34.8623	13.0759	0.59087	1.0:0.0:0.0:0.0	.	158;286;305;308	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	T	305;308;161;158;286	ENSP00000304044:I305T;ENSP00000370767:I308T;ENSP00000370765:I161T;ENSP00000343861:I158T	ENSP00000304044:I305T	I	-	2	0	GP2	20238536	1.000000	0.71417	0.996000	0.52242	0.535000	0.34838	4.516000	0.60496	1.973000	0.57446	0.533000	0.62120	ATC		PASS	0.433	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		48	135	48	135	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335424	20335424	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:20335424C>A	ENST00000381362.4	-	3	325	c.249G>T	c.(247-249)caG>caT	p.Q83H	GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.Q83H	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	83					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.Q83H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TATCGCACCCCTGGGACCCTG	0.567																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(247-249)CAG>CAT		zymogen granule membrane glycoprotein 2 isoform							69.0	61.0	64.0					16																	20335424		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335424C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.249G>T	16.37:g.20335424C>A	ENSP00000370767:p.Gln83His					GP2_uc002dgw.2_Missense_Mutation_p.Q83H|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	p.Q83H	NM_001007240	NP_001007241	P55259	GP2_HUMAN			3	332	-			83					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.249G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126051	0.20959	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.95482	-3.72;-3.72	4.64	0.411	0.16392	.	.	.	.	.	D	0.92244	0.7540	L	0.56769	1.78	0.09310	N	1	B;B	0.21753	0.06;0.001	B;B	0.28232	0.087;0.001	T	0.82886	-0.0235	9	0.35671	T	0.21	2.143	4.3621	0.11208	0.0:0.4053:0.319:0.2757	.	83;83	P55259-3;P55259	.;GP2_HUMAN	H	83	ENSP00000304044:Q83H;ENSP00000370767:Q83H	ENSP00000304044:Q83H	Q	-	3	2	GP2	20242925	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.451000	0.02387	-0.047000	0.13423	0.655000	0.94253	CAG		PASS	0.567	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		22	51	22	51	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20451701	20451701	+	Silent	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:20451701T>A	ENST00000331849.4	+	14	1839	c.1692T>A	c.(1690-1692)tcT>tcA	p.S564S	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	564					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S564S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGACGGTTTCTGGAAAGATCC	0.438																																						uc002dhe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1690-1692)TCT>TCA		acyl-CoA synthetase medium-chain family member 5							38.0	38.0	38.0					16																	20451701		2203	4296	6499	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20451701T>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1692T>A	16.37:g.20451701T>A							p.S564S	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			14	1839	+			564					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.1692T>A	CCDS10585.1																																																																																				PASS	0.438	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		9	30	9	30	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079561	23079561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:23079561C>A	ENST00000219689.7	-	16	3864	c.3865G>T	c.(3865-3867)Gga>Tga	p.G1289*	USP31_ENST00000567975.1_Nonsense_Mutation_p.G582*	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.G1289*(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGCTCTTTTCCCGTTGTATTT	0.547																																						uc002dll.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(3865-3867)GGA>TGA		ubiquitin specific peptidase 31							217.0	203.0	208.0					16																	23079561		2197	4300	6497	SO:0001587	stop_gained	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079561C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3865G>T	16.37:g.23079561C>A	ENSP00000219689:p.Gly1289*					USP31_uc002dlk.2_Nonsense_Mutation_p.G561*|USP31_uc010vca.1_Nonsense_Mutation_p.G592*|USP31_uc010bxm.2_Nonsense_Mutation_p.G577*	p.G1289*	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3865	-			1289					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	ENST00000219689.7	37	c.3865G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523452	0.96431	.	.	ENSG00000103404	ENST00000219689	.	.	.	5.8	4.77	0.60923	.	0.890640	0.09633	N	0.776025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.2689	11.9526	0.52964	0.132:0.7955:0.0:0.0725	.	.	.	.	X	1289	.	ENSP00000219689:G1289X	G	-	1	0	USP31	22987062	0.471000	0.25862	0.635000	0.29338	0.257000	0.26127	2.037000	0.41174	2.735000	0.93741	0.655000	0.94253	GGA		PASS	0.547	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		50	198	50	198	---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29824892	29824892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:29824892G>T	ENST00000358758.7	+	2	800	c.517G>T	c.(517-519)Gag>Tag	p.E173*	PRRT2_ENST00000567659.1_Nonsense_Mutation_p.E173*|PAGR1_ENST00000609618.1_5'Flank|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567551.1_Intron|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Nonsense_Mutation_p.E173*	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	173	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E173*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GATTCTGTCTGAGAGTGTAGG	0.627																																						uc002due.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(517-519)GAG>TAG		proline-rich transmembrane protein 2							26.0	29.0	28.0					16																	29824892		2197	4299	6496	SO:0001587	stop_gained	112476				response to biotic stimulus	integral to membrane		g.chr16:29824892G>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.517G>T	16.37:g.29824892G>T	ENSP00000351608:p.Glu173*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Nonsense_Mutation_p.E173*|PRRT2_uc002duf.1_Nonsense_Mutation_p.E173*|C16orf53_uc002dug.3_5'Flank	p.E173*	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN			2	818	+			173			Extracellular (Potential).|Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Nonsense_Mutation	SNP	ENST00000358758.7	37	c.517G>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573489	0.45902	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	.	.	.	4.04	3.07	0.35406	.	0.501906	0.20163	N	0.097904	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.8318	9.6698	0.40006	0.1039:0.0:0.8961:0.0	.	.	.	.	X	173	.	ENSP00000300797:E173X	E	+	1	0	PRRT2	29732393	0.015000	0.18098	0.071000	0.20095	0.523000	0.34469	1.773000	0.38563	1.062000	0.40625	0.563000	0.77884	GAG		PASS	0.627	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		14	27	14	27	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31374500	31374500	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:31374500G>T	ENST00000268296.4	+	14	1636	c.1515G>T	c.(1513-1515)tgG>tgT	p.W505C	ITGAX_ENST00000562522.1_Missense_Mutation_p.W505C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	505					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.W505C(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						GAAGGTGGTGGTGTGATGCTG	0.637																																						uc002ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1513-1515)TGG>TGT		integrin alpha X precursor							105.0	109.0	107.0					16																	31374500		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374500G>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.1515G>T	16.37:g.31374500G>T	ENSP00000268296:p.Trp505Cys					ITGAX_uc002ebt.2_Missense_Mutation_p.W505C|ITGAX_uc010vfk.1_Missense_Mutation_p.W155C	p.W505C	NM_000887	NP_000878	P20702	ITAX_HUMAN			14	1582	+			505			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1515G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	1.363	-0.588289	0.03799	.	.	ENSG00000140678	ENST00000268296	T	0.10960	2.82	3.76	-2.84	0.05751	.	.	.	.	.	T	0.03827	0.0108	N	0.22421	0.69	0.09310	N	1	D	0.56035	0.974	B	0.31390	0.129	T	0.30534	-0.9975	9	0.66056	D	0.02	.	0.3081	0.00283	0.2814:0.14:0.2937:0.2849	.	505	P20702	ITAX_HUMAN	C	505	ENSP00000268296:W505C	ENSP00000268296:W505C	W	+	3	0	ITGAX	31282001	0.000000	0.05858	0.052000	0.19188	0.135000	0.20990	-0.566000	0.05922	-0.883000	0.03982	0.460000	0.39030	TGG		PASS	0.637	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		23	73	23	73	---	---	---	---
RNA5-8SP2	100873571	broad.mit.edu	37	16	33965529	33965529	+	RNA	SNP	C	C	A	rs437324	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:33965529C>A	ENST00000363564.1	+	0	104									RNA, 5.8S ribosomal pseudogene 2																		ACACTTCGAACGCAATTGCAG	0.572																																						hsa-mir-1826|MI0008194																			0					0															41.0	43.0	43.0					16																	33965529		1568	3582	5150			100302162							g.chr16:33965529C>A			16p11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000200434	ENSG00000200434			41956	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 2"""	RN5-8S2			Standard	NG_033434		Approved						16.37:g.33965529C>A																+									RNA	SNP	ENST00000363564.1	37	c.22C>A																																																																																					PASS	0.572	RNA5-8SP2-201	KNOWN	basic	rRNA	rRNA				8	19	8	19	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46741619	46741619	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:46741619G>T	ENST00000394809.4	-	13	2572	c.2457C>A	c.(2455-2457)ccC>ccA	p.P819P	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Silent_p.P478P	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	819					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.P898P(1)|p.P819P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTGAAGATTAGGGAGAAGTTG	0.383																																						uc002eei.3																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(2455-2457)CCC>CCA		myosin light chain kinase 3							96.0	91.0	93.0					16																	46741619		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46741619G>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2457C>A	16.37:g.46741619G>T						MYLK3_uc010vge.1_Silent_p.P478P	p.P819P	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			13	2573	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	819					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.2457C>A	CCDS10723.2																																																																																				PASS	0.383	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		11	27	11	27	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670792	49670792	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:49670792C>A	ENST00000561648.1	-	4	2324	c.2271G>T	c.(2269-2271)tgG>tgT	p.W757C	ZNF423_ENST00000262383.2_Missense_Mutation_p.W757C|ZNF423_ENST00000562871.1_Missense_Mutation_p.W697C|ZNF423_ENST00000563137.2_Missense_Mutation_p.W697C|ZNF423_ENST00000535559.1_Missense_Mutation_p.W640C|ZNF423_ENST00000567169.1_Missense_Mutation_p.W640C|ZNF423_ENST00000562520.1_Missense_Mutation_p.W697C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	757					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W757C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCGGAAGTCCCAGTTGCAGG	0.587																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2269-2271)TGG>TGT		zinc finger protein 423							122.0	107.0	112.0					16																	49670792		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670792C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2271G>T	16.37:g.49670792C>A	ENSP00000455426:p.Trp757Cys					ZNF423_uc010vgn.1_Missense_Mutation_p.W640C	p.W757C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2569	-		all_cancers(37;0.0155)	757			C2H2-type 18.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2271G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729478	0.48833	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08896	3.04;3.07	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01238	-1.1409	9	.	.	.	.	18.4141	0.90562	0.0:1.0:0.0:0.0	.	757	Q2M1K9	ZN423_HUMAN	C	757;640	ENSP00000262383:W757C;ENSP00000442321:W640C	.	W	-	3	0	ZNF423	48228293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.352000	0.79861	0.561000	0.74099	TGG		PASS	0.587	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		9	29	9	29	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49671126	49671126	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:49671126C>A	ENST00000561648.1	-	4	1990	c.1937G>T	c.(1936-1938)aGc>aTc	p.S646I	ZNF423_ENST00000262383.2_Missense_Mutation_p.S646I|ZNF423_ENST00000562871.1_Missense_Mutation_p.S586I|ZNF423_ENST00000563137.2_Missense_Mutation_p.S586I|ZNF423_ENST00000535559.1_Missense_Mutation_p.S529I|ZNF423_ENST00000567169.1_Missense_Mutation_p.S529I|ZNF423_ENST00000562520.1_Missense_Mutation_p.S586I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	646					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S646I(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCTGGAAGCTCTCAAAGTT	0.582																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1936-1938)AGC>ATC		zinc finger protein 423							54.0	56.0	55.0					16																	49671126		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671126C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1937G>T	16.37:g.49671126C>A	ENSP00000455426:p.Ser646Ile					ZNF423_uc010vgn.1_Missense_Mutation_p.S529I	p.S646I	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2235	-		all_cancers(37;0.0155)	646			C2H2-type 14.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1937G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	9.436	1.086741	0.20390	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.29397	1.57;1.57	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.266027	0.43579	D	0.000550	T	0.29652	0.0740	L	0.52206	1.635	0.35591	D	0.807116	B	0.30973	0.302	B	0.32928	0.155	T	0.34675	-0.9819	9	.	.	.	.	13.7241	0.62748	0.0:0.8457:0.1543:0.0	.	646	Q2M1K9	ZN423_HUMAN	I	646;529	ENSP00000262383:S646I;ENSP00000442321:S529I	.	S	-	2	0	ZNF423	48228627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.987000	0.49378	2.250000	0.74265	0.462000	0.41574	AGC		PASS	0.582	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		13	23	13	23	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50347964	50347964	+	Silent	SNP	C	C	T	rs149953515	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:50347964C>T	ENST00000394697.2	+	23	3187	c.2847C>T	c.(2845-2847)caC>caT	p.H949H	ADCY7_ENST00000254235.3_Silent_p.H949H			P51828	ADCY7_HUMAN	adenylate cyclase 7	949	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.H949H(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCTCAGGGCACGAGAACCAGG	0.552													C|||	6	0.00119808	0.0023	0.0043	5008	,	,		21950	0.0		0.0	False		,,,				2504	0.0					uc002egd.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2845-2847)CAC>CAT		adenylate cyclase 7	Bromocriptine(DB01200)	C		17,4379	24.3+/-50.5	0,17,2181	67.0	63.0	64.0		2847	-4.1	0.8	16	dbSNP_134	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ADCY7	NM_001114.3		0,21,6477	TT,TC,CC		0.0465,0.3867,0.1616		949/1081	50347964	21,12975	2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50347964C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2847C>T	16.37:g.50347964C>T							p.H949H	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	22	3115	+		all_cancers(37;0.0127)	949			Cytoplasmic (Potential).|Guanylate cyclase 2.		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.2847C>T	CCDS10741.1																																																																																				PASS	0.552	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			7	28	7	28	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174144	51174144	+	Missense_Mutation	SNP	C	C	A	rs369179023		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:51174144C>A	ENST00000251020.4	-	2	2022	c.1989G>T	c.(1987-1989)ttG>ttT	p.L663F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.L566F|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	663					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L663F(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACATGAGCGGCAACAAAGGGT	0.602																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(1987-1989)TTG>TTT		sal-like 1 isoform a							56.0	59.0	58.0					16																	51174144		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174144C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1989G>T	16.37:g.51174144C>A	ENSP00000251020:p.Leu663Phe					SALL1_uc010vgr.1_Missense_Mutation_p.L566F|SALL1_uc010cbv.2_Intron	p.L663F	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2020	-		all_cancers(37;0.0322)	663					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1989G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609949	0.46527	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09163	3.01;3.02	4.79	2.74	0.32292	.	0.148747	0.56097	D	0.000027	T	0.09730	0.0239	L	0.42245	1.32	0.48452	D	0.999657	B	0.27559	0.181	B	0.24006	0.05	T	0.11324	-1.0592	10	0.72032	D	0.01	.	9.5639	0.39387	0.1412:0.7839:0.0:0.0749	.	663	Q9NSC2	SALL1_HUMAN	F	663;566;627	ENSP00000251020:L663F;ENSP00000407914:L566F	ENSP00000251020:L663F	L	-	3	2	SALL1	49731645	1.000000	0.71417	0.988000	0.46212	0.825000	0.46686	3.842000	0.55858	1.242000	0.43836	0.557000	0.71058	TTG		PASS	0.602	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		22	44	22	44	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175307	51175307	+	Nonsense_Mutation	SNP	G	G	A	rs104894537		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:51175307G>A	ENST00000251020.4	-	2	859	c.826C>T	c.(826-828)Cga>Tga	p.R276*	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Nonsense_Mutation_p.R179*|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	276					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R276*(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCAGATGTTCGTAAAGTACCT	0.502																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Nonsense(1)		lung(1)	skin(5)|ovary(3)	8	GRCh37	CM991123	SALL1	M	rs104894537	c.(826-828)CGA>TGA		sal-like 1 isoform a							88.0	88.0	88.0					16																	51175307		2198	4300	6498	SO:0001587	stop_gained	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175307G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.826C>T	16.37:g.51175307G>A	ENSP00000251020:p.Arg276*					SALL1_uc010vgr.1_Nonsense_Mutation_p.R179*|SALL1_uc010cbv.2_Intron	p.R276*	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	857	-		all_cancers(37;0.0322)	276					Q99881|Q9NSC3|Q9P1R0	Nonsense_Mutation	SNP	ENST00000251020.4	37	c.826C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796548	0.90453	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	.	.	.	4.75	4.75	0.60458	.	0.124671	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-6.872	12.9729	0.58524	0.0:0.0:0.8384:0.1616	.	.	.	.	X	276;179;240	.	ENSP00000251020:R276X	R	-	1	2	SALL1	49732808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.749000	0.62155	2.445000	0.82738	0.491000	0.48974	CGA		PASS	0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		23	78	23	78	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52480035	52480035	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:52480035C>A	ENST00000219746.9	-	5	1061	c.777G>T	c.(775-777)gtG>gtT	p.V259V	TOX3_ENST00000407228.3_Silent_p.V254V	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	259					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.V254V(1)|p.V259V(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CATATGCTGACACTGGCTTCT	0.448																																						uc002egw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(775-777)GTG>GTT		TOX high mobility group box family member 3							94.0	89.0	91.0					16																	52480035		1935	4177	6112	SO:0001819	synonymous_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52480035C>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.777G>T	16.37:g.52480035C>A						TOX3_uc010vgt.1_Silent_p.V254V|TOX3_uc010vgu.1_Silent_p.V259V	p.V259V	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			5	948	-			259			HMG box.		B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	c.777G>T	CCDS54009.1																																																																																				PASS	0.448	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		12	59	12	59	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54967505	54967505	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:54967505C>T	ENST00000394636.4	+	3	1509	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Missense_Mutation_p.P171L|IRX5_ENST00000558597.1_Missense_Mutation_p.P325L|IRX5_ENST00000320990.5_Missense_Mutation_p.P390L			P78411	IRX5_HUMAN	iroquois homeobox 5	391					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.P391L(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCGCAGTGTCCTTTTCCAGGC	0.697																																						uc002ehv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)CCT>CTT		iroquois homeobox protein 5							13.0	16.0	15.0					16																	54967505		2183	4254	6437	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967505C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1172C>T	16.37:g.54967505C>T	ENSP00000378132:p.Pro391Leu					IRX5_uc002ehw.2_Missense_Mutation_p.P325L	p.P391L	NM_005853	NP_005844	P78411	IRX5_HUMAN			3	1172	+			391					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1172C>T	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264531	0.39995	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.48201	0.82;0.82	4.45	3.48	0.39840	.	0.056513	0.64402	D	0.000001	T	0.36166	0.0957	L	0.40543	1.245	0.58432	D	0.999998	B	0.34103	0.437	B	0.29862	0.108	T	0.25813	-1.0121	10	0.52906	T	0.07	-5.2932	10.9725	0.47446	0.3396:0.6604:0.0:0.0	.	391	P78411	IRX5_HUMAN	L	391;390	ENSP00000378132:P391L;ENSP00000316250:P390L	ENSP00000316250:P390L	P	+	2	0	IRX5	53525006	0.874000	0.30092	1.000000	0.80357	0.976000	0.68499	1.623000	0.37008	1.058000	0.40530	-0.291000	0.09656	CCT		PASS	0.697	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			4	21	4	21	---	---	---	---
BBS2	583	broad.mit.edu	37	16	56535369	56535369	+	Missense_Mutation	SNP	C	C	T	rs371765731		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:56535369C>T	ENST00000245157.5	-	10	1541	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Missense_Mutation_p.R374Q	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	374					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R374Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GATTATGCCCCGATGCCCATC	0.498									Bardet-Biedl syndrome																													uc002ejd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1120-1122)CGG>CAG		Bardet-Biedl syndrome 2 protein		C	GLN/ARG	0,4396		0,0,2198	189.0	166.0	173.0		1121	4.4	0.7	16		173	1,8599	1.2+/-3.3	0,1,4299	no	missense	BBS2	NM_031885.3	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	374/722	56535369	1,12995	2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56535369C>T	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1121G>A	16.37:g.56535369C>T	ENSP00000245157:p.Arg374Gln					BBS2_uc010ccg.2_3'UTR	p.R374Q	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			10	1355	-			374					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1121G>A	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791583	0.31685	0.0	1.16E-4	ENSG00000125124	ENST00000245157	D	0.90324	-2.65	5.38	4.42	0.53409	.	0.255939	0.39475	N	0.001358	T	0.81851	0.4910	L	0.47716	1.5	0.29634	N	0.845223	B	0.34147	0.438	B	0.24006	0.05	T	0.71666	-0.4524	10	0.13470	T	0.59	-1.5027	5.7567	0.18176	0.1567:0.6828:0.0:0.1605	.	374	Q9BXC9	BBS2_HUMAN	Q	374	ENSP00000245157:R374Q	ENSP00000245157:R374Q	R	-	2	0	BBS2	55092870	0.997000	0.39634	0.680000	0.29994	0.991000	0.79684	1.773000	0.38563	1.252000	0.44001	0.650000	0.86243	CGG		PASS	0.498	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		21	67	21	67	---	---	---	---
CCL17	6361	broad.mit.edu	37	16	57449013	57449013	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:57449013C>A	ENST00000219244.4	+	3	220	c.91C>A	c.(91-93)Cgg>Agg	p.R31R		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	31					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.R31R(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CAATGTGGGCCGGGAGTGCTG	0.607																																						uc002elj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)CGG>AGG		small inducible cytokine A17 precursor							103.0	102.0	102.0					16																	57449013		2198	4300	6498	SO:0001819	synonymous_variant	6361				cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity	g.chr16:57449013C>A	D43767	CCDS10780.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102970	ENSG00000102970		"""Chemokine ligands"", ""Endogenous ligands"""	10615	protein-coding gene	gene with protein product		601520	"""small inducible cytokine subfamily A (Cys-Cys), member 17"""	SCYA17		8702936, 9070951	Standard	NM_002987		Approved	TARC, ABCD-2	uc002elj.1	Q92583	OTTHUMG00000133468	ENST00000219244.4:c.91C>A	16.37:g.57449013C>A						CCL17_uc010ccz.1_Silent_p.R60R	p.R31R	NM_002987	NP_002978	Q92583	CCL17_HUMAN			3	220	+			31					A0N0Q9|Q2M287	Silent	SNP	ENST00000219244.4	37	c.91C>A	CCDS10780.1																																																																																				PASS	0.607	CCL17-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257344.1	NM_002987		37	72	37	72	---	---	---	---
GPR56	9289	broad.mit.edu	37	16	57695777	57695777	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:57695777G>T	ENST00000388812.4	+	13	2291	c.1851G>T	c.(1849-1851)ctG>ctT	p.L617L	GPR56_ENST00000540164.2_Silent_p.L611L|GPR56_ENST00000456916.1_Silent_p.L617L|GPR56_ENST00000567835.1_Silent_p.L617L|GPR56_ENST00000538815.1_Silent_p.L611L|GPR56_ENST00000379696.3_Silent_p.L617L|GPR56_ENST00000379694.4_Silent_p.L447L|GPR56_ENST00000562558.1_Silent_p.L611L|GPR56_ENST00000388813.5_Silent_p.L611L|GPR56_ENST00000568908.1_Silent_p.L611L|GPR56_ENST00000568909.1_Silent_p.L617L|GPR56_ENST00000562631.1_Silent_p.L611L|GPR56_ENST00000544297.1_Silent_p.L436L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	617					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)	p.L617L(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCCTCAGCCTGGTCCTTGGCC	0.577																																						uc002emb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1849-1851)CTG>CTT		G protein-coupled receptor 56 isoform a							153.0	126.0	135.0					16																	57695777		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695777G>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1851G>T	16.37:g.57695777G>T						GPR56_uc002ema.1_Silent_p.L442L|GPR56_uc002emc.2_Silent_p.L611L|GPR56_uc002emf.2_Silent_p.L611L|GPR56_uc010vhs.1_Silent_p.L617L|GPR56_uc002emd.2_Silent_p.L611L|GPR56_uc002eme.2_Silent_p.L611L|GPR56_uc010vht.1_Silent_p.L616L|GPR56_uc002emg.3_Silent_p.L611L|GPR56_uc010vhu.1_Silent_p.L436L	p.L617L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			14	2143	+			617			Helical; Name=6; (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1851G>T	CCDS32460.1																																																																																				PASS	0.577	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			16	39	16	39	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57732937	57732937	+	Splice_Site	SNP	G	G	T	rs539853849		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:57732937G>T	ENST00000360716.3	+	4	599		c.e4+1		RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Splice_Site|CCDC135_ENST00000394337.4_Splice_Site			Q8IY82	CC135_HUMAN							cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.?(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGAAGTGCCCGTAAGGCTGGC	0.642																																						uc002emi.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e3+1		coiled-coil domain containing 135							94.0	95.0	95.0					16																	57732937		2198	4300	6498	SO:0001630	splice_region_variant	84229					cytoplasm		g.chr16:57732937G>T																												ENST00000360716.3:c.378+1G>T	16.37:g.57732937G>T						CCDC135_uc002emj.2_Splice_Site_p.P126_splice|CCDC135_uc002emk.2_Splice_Site_p.P126_splice	p.P126_splice	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			3	467	+								A8K943|Q8NAA0|Q9H080	Splice_Site	SNP	ENST00000360716.3	37	c.378_splice	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009925	0.54361	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1629	0.65457	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC135	56290438	1.000000	0.71417	0.638000	0.29380	0.226000	0.24999	8.373000	0.90131	2.460000	0.83146	0.643000	0.83706	.		PASS	0.642	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		Intron	26	95	26	95	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61891022	61891022	+	Splice_Site	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:61891022C>G	ENST00000577390.1	-	4	1622		c.e4+1		CDH8_ENST00000299345.6_Splice_Site|CDH8_ENST00000584337.1_Splice_Site|CDH8_ENST00000577730.1_Splice_Site	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						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.?(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGCCACAAACCTGTTTCAGG	0.388																																						uc002eog.1																			1	Unknown(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.e4+1		cadherin 8, type 2 preproprotein							84.0	76.0	79.0					16																	61891022		2203	4300	6503	SO:0001630	splice_region_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891022C>G	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.667+1G>C	16.37:g.61891022C>G						CDH8_uc002eoh.2_Intron	p.A223_splice	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)	4	919	-		Ovarian(137;0.0799)|Melanoma(118;0.16)						B3KWC1|Q14DC6|Q9ULB2	Splice_Site	SNP	ENST00000577390.1	37	c.667_splice	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635366	0.87760	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH8	60448523	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.359000	0.79477	2.779000	0.95612	0.650000	0.86243	.		PASS	0.388	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	Intron	15	51	15	51	---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84075715	84075715	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:84075715G>A	ENST00000299709.3	-	1	47	c.48C>T	c.(46-48)caC>caT	p.H16H	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	16					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.H16H(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCGTGGCAGGGTGAGGCTTTT	0.622																																						uc002fhg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)CAC>CAT		solute carrier family 38, member 8							73.0	84.0	80.0					16																	84075715		2200	4300	6500	SO:0001819	synonymous_variant	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84075715G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.48C>T	16.37:g.84075715G>A							p.H16H	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			1	48	-			16						Silent	SNP	ENST00000299709.3	37	c.48C>T	CCDS32495.1																																																																																				PASS	0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		7	61	7	61	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5041503	5041503	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:5041503T>A	ENST00000574788.1	+	21	3243	c.1013T>A	c.(1012-1014)gTg>gAg	p.V338E	USP6_ENST00000332776.4_Missense_Mutation_p.V338E|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V338E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	338					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.V338E(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GATGACACCGTGCTCAAGCAT	0.582			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1012-1014)GTG>GAG		ubiquitin specific protease 6							142.0	141.0	141.0					17																	5041503		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5041503T>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1013T>A	17.37:g.5041503T>A	ENSP00000460380:p.Val338Glu					USP6_uc002gav.1_Missense_Mutation_p.V338E|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	p.V338E	NM_004505	NP_004496	P35125	UBP6_HUMAN			21	3243	+			338					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1013T>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588762	0.46110	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.25250	1.81;1.81	0.862	0.862	0.19056	Rab-GAP/TBC domain (1);	0.106620	0.64402	D	0.000006	T	0.33614	0.0869	M	0.64997	1.995	0.80722	D	1	D	0.55605	0.972	P	0.56700	0.804	T	0.08700	-1.0709	10	0.87932	D	0	.	4.181	0.10376	0.0:0.0:0.0:1.0	.	338	P35125	UBP6_HUMAN	E	338	ENSP00000328010:V338E;ENSP00000250066:V338E	ENSP00000250066:V338E	V	+	2	0	USP6	4982227	0.005000	0.15991	0.138000	0.22173	0.139000	0.21198	1.112000	0.31172	0.115000	0.18071	0.113000	0.15668	GTG		PASS	0.582	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		31	69	31	69	---	---	---	---
DLG4	1742	broad.mit.edu	37	17	7097029	7097029	+	Silent	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:7097029T>A	ENST00000399506.2	-	15	1739	c.1548A>T	c.(1546-1548)cgA>cgT	p.R516R	DLG4_ENST00000302955.6_Silent_p.R513R|DLG4_ENST00000399510.2_Silent_p.R559R			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	516					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.R559R(1)|p.R513R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CCGAGTCTTCTCGACCTGGTG	0.617																																						uc002get.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(1675-1677)CGA>CGT		post-synaptic density protein 95 isoform 1							65.0	74.0	71.0					17																	7097029		2008	4179	6187	SO:0001819	synonymous_variant	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.chr17:7097029T>A	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.1548A>T	17.37:g.7097029T>A						DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.R456R|DLG4_uc010cly.2_Silent_p.R513R|DLG4_uc010vto.1_Silent_p.R556R	p.R559R	NM_001365	NP_001356	P78352	DLG4_HUMAN			17	2878	-			516					B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.1677A>T																																																																																					PASS	0.617	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		4	9	4	9	---	---	---	---
ATP1B2	482	broad.mit.edu	37	17	7556735	7556735	+	Silent	SNP	C	C	G	rs141966039		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:7556735C>G	ENST00000250111.4	+	2	563	c.156C>G	c.(154-156)acC>acG	p.T52T		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	52					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)|p.T52T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GGTTCCTCACCGCCATGTTCA	0.562																																						uc002gif.1																			4	Whole gene deletion(2)|Unknown(1)|Substitution - coding silent(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|pancreas(1)	2						c.(154-156)ACC>ACG		Na+/K+ -ATPase beta 2 subunit							198.0	161.0	173.0					17																	7556735		2203	4300	6503	SO:0001819	synonymous_variant	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7556735C>G	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.156C>G	17.37:g.7556735C>G							p.T52T	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	2	739	+		all_cancers(10;0.000178)|Prostate(122;0.081)	52			Helical; Signal-anchor for type II membrane protein; (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Silent	SNP	ENST00000250111.4	37	c.156C>G	CCDS32550.1																																																																																				PASS	0.562	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		31	63	31	63	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000420246.2_Missense_Mutation_p.R273L	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L	p.R273L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	17	7	17	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10353910	10353910	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:10353910C>T	ENST00000255381.2	-	30	4151	c.4041G>A	c.(4039-4041)ctG>ctA	p.L1347L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1347					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.L1347L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTGTTCCCGCAGCAGGTCAC	0.542																																						uc002gmn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4039-4041)CTG>CTA		myosin, heavy polypeptide 4, skeletal muscle							112.0	96.0	101.0					17																	10353910		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10353910C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4041G>A	17.37:g.10353910C>T						uc002gml.1_Intron	p.L1347L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			30	4152	-			1347			Potential.			Silent	SNP	ENST00000255381.2	37	c.4041G>A	CCDS11154.1																																																																																				PASS	0.542	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		17	42	17	42	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11583238	11583238	+	Missense_Mutation	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:11583238T>C	ENST00000262442.4	+	18	3586	c.3518T>C	c.(3517-3519)aTt>aCt	p.I1173T	DNAH9_ENST00000454412.2_Missense_Mutation_p.I1173T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1173	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.I1173T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGCAGACTATTGAATTGCTG	0.408																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3517-3519)ATT>ACT		dynein, axonemal, heavy chain 9 isoform 2							121.0	114.0	117.0					17																	11583238		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11583238T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3518T>C	17.37:g.11583238T>C	ENSP00000262442:p.Ile1173Thr					DNAH9_uc010coo.2_Missense_Mutation_p.I467T	p.I1173T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	18	3586	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1173			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3518T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210161	0.58343	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.23348	1.91;1.91	5.79	5.79	0.91817	.	0.294309	0.33180	N	0.005196	T	0.42245	0.1194	M	0.86864	2.845	0.80722	D	1	B	0.27416	0.178	B	0.34093	0.175	T	0.44345	-0.9334	10	0.72032	D	0.01	.	16.1341	0.81471	0.0:0.0:0.0:1.0	.	1173	Q9NYC9	DYH9_HUMAN	T	1173	ENSP00000262442:I1173T;ENSP00000414874:I1173T	ENSP00000262442:I1173T	I	+	2	0	DNAH9	11523963	1.000000	0.71417	0.960000	0.40013	0.715000	0.41141	6.217000	0.72218	2.220000	0.72140	0.528000	0.53228	ATT		PASS	0.408	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		10	53	10	53	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11726142	11726142	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:11726142A>T	ENST00000262442.4	+	48	9105	c.9037A>T	c.(9037-9039)Aaa>Taa	p.K3013*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.K3013*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3013	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K3013*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCGATTAGCAAATTCATGGC	0.443																																						uc002gne.2																			1	Substitution - Nonsense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9037-9039)AAA>TAA		dynein, axonemal, heavy chain 9 isoform 2							133.0	119.0	124.0					17																	11726142		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726142A>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9037A>T	17.37:g.11726142A>T	ENSP00000262442:p.Lys3013*					DNAH9_uc010coo.2_Nonsense_Mutation_p.K2307*	p.K3013*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	48	9105	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3013			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.9037A>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	51	17.335605	0.99884	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.06	2.97	0.34412	.	0.059857	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	9.5596	0.39360	0.9151:0.0:0.0849:0.0	.	.	.	.	X	3013;3013;1595	.	ENSP00000262442:K3013X	K	+	1	0	DNAH9	11666867	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	3.786000	0.55431	0.702000	0.31825	0.460000	0.39030	AAA		PASS	0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		30	45	30	45	---	---	---	---
COX10	1352	broad.mit.edu	37	17	14110505	14110505	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:14110505G>T	ENST00000261643.3	+	7	1384	c.1307G>T	c.(1306-1308)gGg>gTg	p.G436V	COX10_ENST00000537334.1_Missense_Mutation_p.G219V|COX10_ENST00000536205.1_Missense_Mutation_p.G244V	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	436					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)	p.G436V(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGCGGAGGCGGGGACGCAGGG	0.662																																						uc002gof.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)GGG>GTG		heme A:farnesyltransferase precursor							17.0	19.0	19.0					17																	14110505		2192	4277	6469	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110505G>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1307G>T	17.37:g.14110505G>T	ENSP00000261643:p.Gly436Val					COX10_uc010vvs.1_Missense_Mutation_p.G219V|COX10_uc010vvt.1_Missense_Mutation_p.G244V	p.G436V	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	7	1511	+		all_lung(20;0.06)|Lung SC(565;0.168)	436					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.1307G>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095437	0.20471	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	T;T;T	0.70045	-0.02;-0.45;-0.42	3.75	-2.59	0.06209	.	2.593120	0.00999	N	0.003659	T	0.55497	0.1924	L	0.44542	1.39	0.09310	N	1	B;B	0.23650	0.037;0.089	B;B	0.14023	0.005;0.01	T	0.32534	-0.9903	10	0.33940	T	0.23	.	6.0445	0.19752	0.6127:0.1589:0.2284:0.0	.	244;436	B4DJ50;Q12887	.;COX10_HUMAN	V	436;244;219	ENSP00000261643:G436V;ENSP00000439494:G244V;ENSP00000443354:G219V	ENSP00000261643:G436V	G	+	2	0	COX10	14051230	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.111000	0.15458	-0.195000	0.10382	-0.671000	0.03813	GGG		PASS	0.662	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		7	14	7	14	---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21205556	21205556	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:21205556G>A	ENST00000342679.4	+	6	750	c.501G>A	c.(499-501)ggG>ggA	p.G167G	MAP2K3_ENST00000316920.6_Silent_p.G138G|MAP2K3_ENST00000361818.5_Silent_p.G138G	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	167	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.G171G(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACATCCTTGGGGAGATTGCTG	0.572																																						uc002gys.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)GGG>GGA		mitogen-activated protein kinase kinase 3							112.0	93.0	99.0					17																	21205556		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:21205556G>A	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.501G>A	17.37:g.21205556G>A						MAP2K3_uc002gyt.2_Silent_p.G138G|MAP2K3_uc002gyu.2_Silent_p.G138G	p.G167G	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	6	766	+			167			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.501G>A	CCDS11217.1																																																																																				PASS	0.572	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		6	31	6	31	---	---	---	---
KRT18P55	284085	broad.mit.edu	37	17	26603915	26603915	+	RNA	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:26603915A>T	ENST00000577198.1	-	0	1046				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		GTCGATCTGCAGAACAATGTG	0.522																																						uc002has.3																			0					0						c.(559-561)CTG>CAG		SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18;							65.0	66.0	66.0					17																	26603915		2191	4298	6489			284085							g.chr17:26603915A>T			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26603915A>T							p.L187Q	NM_173624	NP_775895				UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	656	-	all_lung(13;0.000238)|Lung NSC(42;0.000789)								Missense_Mutation	SNP	ENST00000577198.1	37	c.560T>A																																																																																					PASS	0.522	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		14	43	14	43	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29195408	29195408	+	Silent	SNP	A	A	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:29195408A>C	ENST00000321990.4	+	12	3669	c.3291A>C	c.(3289-3291)ggA>ggC	p.G1097G		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1097					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.G1097G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATCTGAAGGGAAAAAGAGATG	0.299																																						uc002hfs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3289-3291)GGA>GGC		ATPase family, AAA domain containing 5							89.0	93.0	92.0					17																	29195408		2203	4300	6503	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29195408A>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3291A>C	17.37:g.29195408A>C						ATAD5_uc002hft.1_Silent_p.G994G	p.G1097G	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			12	3637	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1097					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.3291A>C	CCDS11260.1																																																																																				PASS	0.299	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		14	21	14	21	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520778	33520778	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:33520778C>A	ENST00000297307.5	-	1	634	c.549G>T	c.(547-549)ggG>ggT	p.G183G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	183						integral component of membrane (GO:0016021)		p.G183G(1)									CACCCGTGGTCCCCTCCTGTA	0.592																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(547-549)GGG>GGT		acyl-malonyl condensing enzyme 1							143.0	147.0	146.0					17																	33520778		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520778C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.549G>T	17.37:g.33520778C>A							p.G183G	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	635	-			183					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.549G>T	CCDS11293.1																																																																																				PASS	0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		23	91	23	91	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36499258	36499258	+	Nonsense_Mutation	SNP	C	C	A	rs370341548		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:36499258C>A	ENST00000342292.4	-	1	435	c.415G>T	c.(415-417)Gag>Tag	p.E139*		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	139					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E139*(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGTCCCCCTCGGCCACGCTG	0.617																																						uc002hpz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(415-417)GAG>TAG		GPR158-like 1 precursor							50.0	52.0	51.0					17																	36499258		2111	4232	6343	SO:0001587	stop_gained	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499258C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.415G>T	17.37:g.36499258C>A	ENSP00000345060:p.Glu139*						p.E139*	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			1	436	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	139			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000342292.4	37	c.415G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017304	0.93404	.	.	ENSG00000188888	ENST00000342292	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.0893	17.8981	0.88895	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000345060:E139X	E	-	1	0	GPR179	33752784	1.000000	0.71417	0.971000	0.41717	0.539000	0.34962	5.727000	0.68523	2.837000	0.97791	0.655000	0.94253	GAG		PASS	0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			12	62	12	62	---	---	---	---
KRT37	8688	broad.mit.edu	37	17	39579038	39579038	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:39579038G>C	ENST00000225550.3	-	3	723	c.724C>G	c.(724-726)Cac>Gac	p.H242D	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	242	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.H242D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACCTGCTCGTGGTTGCTCTTG	0.687																																						uc002hwp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(724-726)CAC>GAC		keratin 37							44.0	35.0	38.0					17																	39579038		2203	4299	6502	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579038G>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.724C>G	17.37:g.39579038G>C	ENSP00000225550:p.His242Asp					uc002hwo.1_Intron	p.H242D	NM_003770	NP_003761	O76014	KRT37_HUMAN			3	771	-		Breast(137;0.000496)	242			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000225550.3	37	c.724C>G	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.085663	0.76642	.	.	ENSG00000108417	ENST00000225550	D	0.91407	-2.84	4.86	4.86	0.63082	Filament (1);	0.000000	0.48286	D	0.000195	D	0.97645	0.9228	H	0.99675	4.695	0.50171	D	0.999852	D	0.69078	0.997	D	0.68192	0.956	D	0.99826	1.1050	10	0.87932	D	0	.	16.9589	0.86267	0.0:0.0:1.0:0.0	.	242	O76014	KRT37_HUMAN	D	242	ENSP00000225550:H242D	ENSP00000225550:H242D	H	-	1	0	KRT37	36832564	1.000000	0.71417	0.965000	0.40720	0.714000	0.41099	9.837000	0.99465	2.253000	0.74438	0.655000	0.94253	CAC		PASS	0.687	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	17	4	17	---	---	---	---
ATP6V0A1	535	broad.mit.edu	37	17	40642586	40642586	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:40642586A>T	ENST00000343619.4	+	11	1228	c.1105A>T	c.(1105-1107)Aag>Tag	p.K369*	ATP6V0A1_ENST00000544137.1_Nonsense_Mutation_p.K15*|ATP6V0A1_ENST00000585525.1_Nonsense_Mutation_p.K326*|ATP6V0A1_ENST00000537728.1_Nonsense_Mutation_p.K326*|ATP6V0A1_ENST00000546249.1_Nonsense_Mutation_p.K369*|ATP6V0A1_ENST00000393829.2_Nonsense_Mutation_p.K369*|ATP6V0A1_ENST00000264649.6_Nonsense_Mutation_p.K376*	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	369					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.K369*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAAAACCAACAAGTTTACCTA	0.383																																						uc002hzr.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1105-1107)AAG>TAG		ATPase, H+ transporting, lysosomal V0 subunit a1							121.0	122.0	122.0					17																	40642586		2203	4300	6503	SO:0001587	stop_gained	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40642586A>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1105A>T	17.37:g.40642586A>T	ENSP00000342951:p.Lys369*					ATP6V0A1_uc002hzq.2_Nonsense_Mutation_p.K369*|ATP6V0A1_uc002hzs.2_Nonsense_Mutation_p.K376*|ATP6V0A1_uc010wgj.1_Nonsense_Mutation_p.K326*|ATP6V0A1_uc010wgk.1_Nonsense_Mutation_p.K326*|ATP6V0A1_uc010cyg.2_Nonsense_Mutation_p.K15*|ATP6V0A1_uc010wgl.1_Nonsense_Mutation_p.K228*	p.K369*	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	11	1272	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	369			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Nonsense_Mutation	SNP	ENST00000343619.4	37	c.1105A>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	39	7.561163	0.98358	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	.	.	.	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.0106	16.56	0.84537	1.0:0.0:0.0:0.0	.	.	.	.	X	369;369;369;376;326;15	.	ENSP00000264649:K376X	K	+	1	0	ATP6V0A1	37896112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.221000	0.95188	2.313000	0.78055	0.454000	0.30748	AAG		PASS	0.383	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		28	105	28	105	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41215391	41215391	+	Splice_Site	SNP	C	C	T	rs80358137|rs273901746		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:41215391C>T	ENST00000357654.3	-	18	5271		c.e18-1		BRCA1_ENST00000346315.3_Splice_Site|BRCA1_ENST00000491747.2_Splice_Site|BRCA1_ENST00000591534.1_Splice_Site|BRCA1_ENST00000351666.3_Splice_Site|BRCA1_ENST00000354071.3_Splice_Site|BRCA1_ENST00000352993.3_Splice_Site|BRCA1_ENST00000471181.2_Splice_Site|BRCA1_ENST00000468300.1_Splice_Site|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Splice_Site|BRCA1_ENST00000586385.1_Splice_Site|BRCA1_ENST00000493795.1_Splice_Site	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset						androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|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)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGTCACCCCTAAAGAGATC	0.368			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Unknown(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	GRCh37	CS000586|CS961493|CS993672	BRCA1	S	rs80358137	c.e18-1	Homologous_recombination	breast cancer 1, early onset isoform 1							123.0	120.0	121.0					17																	41215391		2203	4300	6503	SO:0001630	splice_region_variant	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41215391C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5153-1G>A	17.37:g.41215391C>T		TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Splice_Site_p.W567_splice|BRCA1_uc010whl.1_Splice_Site_p.W614_splice|BRCA1_uc010whm.1_Splice_Site_p.W28_splice|BRCA1_uc002icp.3_Splice_Site_p.W1647_splice|BRCA1_uc002icu.2_Splice_Site_p.W614_splice|BRCA1_uc010cyx.2_Splice_Site_p.W1671_splice|BRCA1_uc002ict.2_Splice_Site_p.W1739_splice|BRCA1_uc010whn.1_Splice_Site_p.W209_splice|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron	p.W1718_splice	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	18	5385	-		Breast(137;0.000717)						O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Splice_Site	SNP	ENST00000357654.3	37	c.5153_splice	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873871	0.72180	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1639	0.72807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRCA1	38468917	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.267000	0.58877	2.724000	0.93272	0.491000	0.48974	.		PASS	0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	Intron	10	18	10	18	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42475947	42475947	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:42475947C>A	ENST00000591680.1	-	8	3528	c.3498G>T	c.(3496-3498)ttG>ttT	p.L1166F	GPATCH8_ENST00000434000.1_Missense_Mutation_p.L1088F	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1166							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L1166F(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCCCCCTTTCCAAGCCAGACT	0.537																																						uc002igw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(3496-3498)TTG>TTT		G patch domain containing 8							107.0	117.0	114.0					17																	42475947		2201	4299	6500	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475947C>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3498G>T	17.37:g.42475947C>A	ENSP00000467556:p.Leu1166Phe					GPATCH8_uc002igv.1_Missense_Mutation_p.L1088F|GPATCH8_uc010wiz.1_Missense_Mutation_p.L1088F	p.L1166F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	3562	-		Prostate(33;0.0181)	1166					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3498G>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173816	0.38413	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.14640	2.49	4.69	-1.16	0.09678	.	0.492735	0.19888	N	0.103801	T	0.06781	0.0173	N	0.19112	0.55	0.30498	N	0.770651	B	0.29085	0.232	B	0.28709	0.093	T	0.42068	-0.9473	10	0.09590	T	0.72	-0.0794	10.2528	0.43379	0.0:0.401:0.0:0.599	.	1166	Q9UKJ3	GPTC8_HUMAN	F	1166;1088	ENSP00000395016:L1088F	ENSP00000335486:L1166F	L	-	3	2	GPATCH8	39831473	0.331000	0.24713	0.914000	0.36105	0.997000	0.91878	-0.360000	0.07622	-0.267000	0.09325	0.650000	0.86243	TTG		PASS	0.537	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		44	124	44	124	---	---	---	---
SPATA20	64847	broad.mit.edu	37	17	48629453	48629454	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:48629453_48629454GG>TT	ENST00000356488.4	+	13	1904_1905	c.1821_1822GG>TT	c.(1819-1824)caGGac>caTTac	p.607_608QD>HY	SPATA20_ENST00000006658.6_Missense_Mutation_p.623_624QD>HY|SPATA20_ENST00000393244.3_Missense_Mutation_p.563_564QD>HY|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	607					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)	p.Q623_D624>HY(1)|p.D624Y(1)|p.Q623H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGGACACACAGGACAAGCTCTT	0.653																																						uc002irf.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(1819-1821)CAG>CAT|c.(1822-1824)GAC>TAC		spermatogenesis associated 20																																				SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48629453G>T|g.chr17:48629454G>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	Exception_encountered	17.37:g.48629453_48629454delinsTT	ENSP00000348878:p.Q607_D608delinsHY					SPATA20_uc002irc.2_Missense_Mutation_p.Q274H|SPATA20_uc002ire.2_Missense_Mutation_p.Q563H|SPATA20_uc002ird.2_Missense_Mutation_p.Q623H|SPATA20_uc002irg.2_RNA|SPATA20_uc002irc.2_Missense_Mutation_p.D275Y|SPATA20_uc002ire.2_Missense_Mutation_p.D564Y|SPATA20_uc002ird.2_Missense_Mutation_p.D624Y|SPATA20_uc002irg.2_RNA	p.Q607H|p.D608Y	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		13	1962|1963	+	Breast(11;1.23e-18)		607|608					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.1821G>T|c.1822G>T	CCDS58563.1																																																																																				PASS	0.653	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		5	30|31	5	30	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901800	51901800	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:51901800C>A	ENST00000268919.4	+	1	1562	c.1406C>A	c.(1405-1407)gCa>gAa	p.A469E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	469	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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.A469E(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						CTGGAAGGGGCAGAGATTAAC	0.498																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1405-1407)GCA>GAA		kinesin family member 2B							48.0	45.0	46.0					17																	51901800		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.chr17:51901800C>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.1406C>A	17.37:g.51901800C>A	ENSP00000268919:p.Ala469Glu					uc010wna.1_RNA	p.A469E	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1562	+			469			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1406C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148868	0.78001	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75477	-0.94	5.73	5.73	0.89815	Kinesin, motor domain (4);	0.000000	0.44688	D	0.000438	D	0.91868	0.7426	H	0.98721	4.31	0.50313	D	0.999864	D	0.89917	1.0	D	0.81914	0.995	D	0.94429	0.7648	10	0.87932	D	0	.	15.647	0.77063	0.1375:0.8625:0.0:0.0	.	469	Q8N4N8	KIF2B_HUMAN	E	469;357	ENSP00000268919:A469E	ENSP00000268919:A469E	A	+	2	0	KIF2B	49256799	1.000000	0.71417	0.969000	0.41365	0.949000	0.60115	6.042000	0.70996	2.854000	0.98071	0.655000	0.94253	GCA		PASS	0.498	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	30	10	30	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247027	56247027	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:56247027G>A	ENST00000545221.1	+	1	11	c.11G>A	c.(10-12)gGg>gAg	p.G4E		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G4E(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ATGGAAACAGGGAACCTCACG	0.488																																						uc010wnp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(10-12)GGG>GAG		olfactory receptor, family 4, subfamily D,							104.0	97.0	100.0					17																	56247027		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247027G>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.11G>A	17.37:g.56247027G>A	ENSP00000441354:p.Gly4Glu						p.G4E	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	11	+			4			Extracellular (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.11G>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	1.436	-0.569054	0.03910	.	.	ENSG00000255713	ENST00000545221	T	0.00482	7.1	5.4	-4.17	0.03857	.	1.074330	0.07256	N	0.866699	T	0.00241	0.0007	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40776	-0.9545	10	0.02654	T	1	0.0057	12.5582	0.56265	0.6913:0.0:0.3087:0.0	.	4	P58180	OR4D2_HUMAN	E	4	ENSP00000441354:G4E	ENSP00000441354:G4E	G	+	2	0	OR4D2	53602026	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	-1.505000	0.02273	-0.680000	0.05211	0.609000	0.83330	GGG		PASS	0.488	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			25	96	25	96	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56349029	56349029	+	Missense_Mutation	SNP	G	G	A	rs145497027	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:56349029G>A	ENST00000225275.3	-	11	2193	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MPO_ENST00000340482.3_Missense_Mutation_p.R705W	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	673					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R673W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TCACCATCCCGGAGCTTCCTG	0.637													G|||	4	0.000798722	0.003	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.0					uc002ivu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2017-2019)CGG>TGG		myeloperoxidase	Cefdinir(DB00535)	G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	41.0	40.0	40.0		2017	5.4	1.0	17	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MPO	NM_000250.1	101	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	probably-damaging	673/746	56349029	6,13000	2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349029G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2017C>T	17.37:g.56349029G>A	ENSP00000225275:p.Arg673Trp						p.R673W	NM_000250	NP_000241	P05164	PERM_HUMAN			11	2194	-			673					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2017C>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788151	0.90367	0.001135	1.16E-4	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72835	-0.69;-0.69	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90535	0.7034	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93886	0.7175	10	0.87932	D	0	-29.111	18.2607	0.90034	0.0:0.0:1.0:0.0	.	673	P05164	PERM_HUMAN	W	705;673	ENSP00000344419:R705W;ENSP00000225275:R673W	ENSP00000225275:R673W	R	-	1	2	MPO	53704028	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.868000	0.87116	2.561000	0.86390	0.563000	0.77884	CGG		PASS	0.637	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			8	30	8	30	---	---	---	---
CSHL1	1444	broad.mit.edu	37	17	61987801	61987801	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:61987801C>A	ENST00000309894.5	-	3	284	c.285G>T	c.(283-285)atG>atT	p.M95I	CSHL1_ENST00000450719.3_Start_Codon_SNP_p.M1I|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Start_Codon_SNP_p.M1I|CSHL1_ENST00000561003.1_Missense_Mutation_p.M12I|CSHL1_ENST00000438387.2_Missense_Mutation_p.M12I|CSHL1_ENST00000392824.4_Missense_Mutation_p.W165L|CSHL1_ENST00000259003.10_Missense_Mutation_p.M33I	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	95						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)	p.M95I(1)|p.M12I(1)		endometrium(3)|lung(6)	9						GCGTTTCCTCCATGTTGGAGG	0.557																																						uc002jda.1																			2	Substitution - Missense(2)		lung(2)		0						c.(283-285)ATG>ATT		chorionic somatomammotropin hormone-like 1							156.0	148.0	151.0					17																	61987801		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987801C>A	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.285G>T	17.37:g.61987801C>A	ENSP00000309524:p.Met95Ile					CSHL1_uc002jcz.1_Missense_Mutation_p.M72I|CSHL1_uc002jdb.1_Missense_Mutation_p.M1I|CSHL1_uc002jdc.1_Missense_Mutation_p.M12I|CSHL1_uc002jdd.1_Missense_Mutation_p.M33I|CSHL1_uc002jde.2_Missense_Mutation_p.W193L|CSHL1_uc002jdf.2_Missense_Mutation_p.M12I|CSHL1_uc002jdg.2_Missense_Mutation_p.W165L|CSHL1_uc002jdh.2_Missense_Mutation_p.M1I	p.M95I	NM_022579	NP_072101	Q14406	CSHL_HUMAN			3	347	-			95					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.285G>T	CCDS11652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.110|8.110	0.778640|0.778640	0.16120|0.16120	.|.	.|.	ENSG00000204414|ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719|ENST00000392824	D;D;D|D	0.88818|0.88741	-2.43;-2.43;-2.43|-2.42	2.27|2.27	0.233|0.233	0.15386|0.15386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);|.	0.153866|.	0.56097|.	D|.	0.000030|.	T|T	0.81370|0.81370	0.4808|0.4808	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.23990|0.25743	0.065;0.077;0.095;0.077|0.133	B;B;B;B|B	0.33121|0.21708	0.025;0.062;0.158;0.098|0.036	T|T	0.70655|0.70655	-0.4812|-0.4812	10|9	0.87932|0.87932	D|D	0|0	.|.	4.5425|4.5425	0.12066|0.12066	0.0:0.6629:0.0:0.3371|0.0:0.6629:0.0:0.3371	.|.	1;12;95;72|165	Q14406-4;Q14406-3;Q14406;Q14406-2|B7Z6E9	.;.;CSHL_HUMAN;.|.	I|L	95;12;90;1;90|165	ENSP00000309524:M95I;ENSP00000402632:M12I;ENSP00000316360:M1I|ENSP00000376569:W165L	ENSP00000259003:M90I|ENSP00000376569:W165L	M|W	-|-	3|2	0|0	GH1|GH1	59341533|59341533	0.730000|0.730000	0.28100|0.28100	0.052000|0.052000	0.19188|0.19188	0.001000|0.001000	0.01503|0.01503	0.134000|0.134000	0.15932|0.15932	0.092000|0.092000	0.17331|0.17331	-0.680000|-0.680000	0.03767|0.03767	ATG|TGG		PASS	0.557	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		34	86	34	86	---	---	---	---
GH1	2688	broad.mit.edu	37	17	61995183	61995183	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:61995183G>A	ENST00000323322.5	-	4	435	c.393C>T	c.(391-393)gcC>gcT	p.A131A	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Silent_p.A116A|GH1_ENST00000351388.4_Silent_p.A91A|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	131					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.A131A(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGCTGTCAGAGGCGCCGTACA	0.617																																						uc002jdj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(391-393)GCC>GCT		growth hormone 1 isoform 1							67.0	67.0	67.0					17																	61995183		2203	4300	6503	SO:0001819	synonymous_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995183G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.393C>T	17.37:g.61995183G>A						GH1_uc002jdi.2_Silent_p.A116A|GH1_uc002jdk.2_Silent_p.A91A|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron	p.A131A	NM_000515	NP_000506	P01241	SOMA_HUMAN			4	455	-			131					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.393C>T	CCDS11653.1																																																																																				PASS	0.617	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		20	50	20	50	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049162	62049162	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:62049162C>A	ENST00000435607.1	-	4	607	c.531G>T	c.(529-531)ctG>ctT	p.L177L	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Silent_p.L177L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	177					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L177L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCCTCGGGCCAGTATCTTGA	0.612																																						uc002jds.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(529-531)CTG>CTT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						35.0	37.0	36.0					17																	62049162		1932	4133	6065	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049162C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.531G>T	17.37:g.62049162C>A							p.L177L	NM_000334	NP_000325	P35499	SCN4A_HUMAN			4	608	-			177			Helical; Name=S2 of repeat I; (Potential).|I.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.531G>T	CCDS45761.1																																																																																				PASS	0.612	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		7	14	7	14	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63185418	63185418	+	Silent	SNP	T	T	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:63185418T>C	ENST00000262406.9	+	10	736	c.669T>C	c.(667-669)gtT>gtC	p.V223V	RGS9_ENST00000449996.3_Silent_p.V220V|RGS9_ENST00000443584.3_Silent_p.V220V	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	223	G protein gamma.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.V223V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AAACAGTCGTTGCTGTCAAAA	0.348																																						uc002jfe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(667-669)GTT>GTC		regulator of G-protein signaling 9 isoform 1							97.0	96.0	96.0					17																	63185418		1844	4088	5932	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63185418T>C	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.669T>C	17.37:g.63185418T>C						RGS9_uc010dem.2_Silent_p.V220V|RGS9_uc002jfd.2_Silent_p.V220V|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_5'UTR	p.V223V	NM_003835	NP_003826	O75916	RGS9_HUMAN			10	779	+			223			G protein gamma.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.669T>C	CCDS42373.1																																																																																				PASS	0.348	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		11	52	11	52	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74391933	74391933	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:74391933G>A	ENST00000319380.7	-	15	2883	c.2819C>T	c.(2818-2820)tCt>tTt	p.S940F	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	940					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S940F(2)|p.S940Y(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTCTTAAAAGAATGATTTGC	0.542																																						uc002jrm.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	breast(2)|skin(2)|lung(1)	5						c.(2818-2820)TCT>TTT		ubiquitin-conjugating enzyme E2O							86.0	88.0	88.0					17																	74391933		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74391933G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2819C>T	17.37:g.74391933G>A	ENSP00000323687:p.Ser940Phe					UBE2O_uc002jrn.3_3'UTR|UBE2O_uc002jrl.3_Missense_Mutation_p.S544F	p.S940F	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			15	2884	-			940					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2819C>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429484	0.43122	.	.	ENSG00000175931	ENST00000319380	T	0.74002	-0.8	4.97	4.97	0.65823	Ubiquitin-conjugating enzyme/RWD-like (1);	0.070853	0.64402	D	0.000020	T	0.62986	0.2473	N	0.19112	0.55	0.51233	D	0.999916	P	0.48911	0.917	P	0.44477	0.451	T	0.61217	-0.7107	10	0.09590	T	0.72	-10.9526	18.2493	0.89997	0.0:0.0:1.0:0.0	.	940	Q9C0C9	UBE2O_HUMAN	F	940	ENSP00000323687:S940F	ENSP00000323687:S940F	S	-	2	0	UBE2O	71903528	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.797000	0.85911	2.294000	0.77228	0.563000	0.77884	TCT		PASS	0.542	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		36	48	36	48	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77073871	77073871	+	Missense_Mutation	SNP	G	G	T	rs575038984	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:77073871G>T	ENST00000579016.1	+	3	341	c.341G>T	c.(340-342)cGc>cTc	p.R114L	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	114						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.R114L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGGCGTGTCGCCAGCCCCCT	0.582																																						uc002jwv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(340-342)CGC>CTC		endo-beta-N-acetylglucosaminidase							46.0	49.0	48.0					17																	77073871		1929	4133	6062	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073871G>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.341G>T	17.37:g.77073871G>T	ENSP00000462333:p.Arg114Leu					ENGASE_uc002jwu.1_Missense_Mutation_p.R114L|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	p.R114L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			3	349	+			114					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.341G>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319824	0.41096	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.68593	2.085	0.80722	D	1	P;P	0.47302	0.892;0.893	P;P	0.52672	0.503;0.706	T	0.76796	-0.2827	9	0.66056	D	0.02	-10.0868	18.133	0.89608	0.0:0.0:1.0:0.0	.	114;114	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	L	114	.	ENSP00000308158:R114L	R	+	2	0	ENGASE	74585466	1.000000	0.71417	0.955000	0.39395	0.391000	0.30476	9.166000	0.94766	2.260000	0.74910	0.563000	0.77884	CGC		PASS	0.582	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		16	42	16	42	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77079880	77079880	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr17:77079880A>T	ENST00000579016.1	+	10	1289	c.1289A>T	c.(1288-1290)cAg>cTg	p.Q430L	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	430						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.Q430L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGAGCGCCCAGGAGATCCAG	0.662																																						uc002jwv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1288-1290)CAG>CTG		endo-beta-N-acetylglucosaminidase							47.0	56.0	53.0					17																	77079880		2029	4172	6201	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77079880A>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1289A>T	17.37:g.77079880A>T	ENSP00000462333:p.Gln430Leu					ENGASE_uc002jww.2_Missense_Mutation_p.Q136L	p.Q430L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			10	1297	+			430					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.1289A>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998272	0.93227	.	.	ENSG00000167280	ENST00000545583	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.80480	-0.1364	9	0.87932	D	0	-6.7735	14.9752	0.71267	1.0:0.0:0.0:0.0	.	430	Q8NFI3	ENASE_HUMAN	L	430	.	ENSP00000438577:Q430L	Q	+	2	0	ENGASE	74591475	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	8.714000	0.91412	1.991000	0.58162	0.459000	0.35465	CAG		PASS	0.662	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		19	64	19	64	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25585835	25585835	+	Silent	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:25585835T>A	ENST00000269141.3	-	6	1248	c.825A>T	c.(823-825)acA>acT	p.T275T	CDH2_ENST00000399380.3_Silent_p.T244T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	275	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.T275T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTCAGGAACTGTCCCATTCC	0.388																																						uc002kwg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(823-825)ACA>ACT		cadherin 2, type 1 preproprotein							140.0	135.0	137.0					18																	25585835		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25585835T>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.825A>T	18.37:g.25585835T>A						CDH2_uc010xbn.1_Silent_p.T244T	p.T275T	NM_001792	NP_001783	P19022	CADH2_HUMAN			6	1284	-			275			Extracellular (Potential).|Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.825A>T	CCDS11891.1																																																																																				PASS	0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		54	87	54	87	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28923448	28923448	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:28923448G>A	ENST00000257192.4	+	12	1935	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S	DSG1_ENST00000462981.2_5'Flank|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RNU6-167P_ENST00000384292.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	575					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.G575S(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGATTGTGGAGGTGCTCCTCG	0.478																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1723-1725)GGT>AGT		desmoglein 1 preproprotein							221.0	191.0	201.0					18																	28923448		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923448G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1723G>A	18.37:g.28923448G>A	ENSP00000257192:p.Gly575Ser					DSG1_uc010xbp.1_5'Flank	p.G575S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		12	1935	+			575			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1723G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566860	0.28003	.	.	ENSG00000134760	ENST00000257192	T	0.53640	0.61	5.45	4.58	0.56647	.	0.094172	0.46758	D	0.000263	T	0.39784	0.1091	M	0.62154	1.92	0.24996	N	0.991509	B	0.24963	0.115	B	0.19666	0.026	T	0.27088	-1.0084	10	0.13470	T	0.59	.	8.8076	0.34948	0.0807:0.15:0.7693:0.0	.	575	Q02413	DSG1_HUMAN	S	575	ENSP00000257192:G575S	ENSP00000257192:G575S	G	+	1	0	DSG1	27177446	1.000000	0.71417	0.234000	0.24042	0.147000	0.21601	1.969000	0.40510	1.313000	0.45069	0.655000	0.94253	GGT		PASS	0.478	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		17	94	17	94	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31324241	31324241	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:31324241C>T	ENST00000269197.5	+	12	4429	c.4429C>T	c.(4429-4431)Cac>Tac	p.H1477Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1477					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.H1477Y(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCGTTGACCACAGCACCAC	0.532											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4429-4431)CAC>TAC		additional sex combs like 3							67.0	71.0	70.0					18																	31324241		2203	4300	6503	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324241C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4429C>T	18.37:g.31324241C>T	ENSP00000269197:p.His1477Tyr		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.H1184Y	p.H1477Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4484	+			1477					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4429C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050311	0.55218	.	.	ENSG00000141431	ENST00000269197	T	0.25579	1.79	6.17	6.17	0.99709	.	.	.	.	.	T	0.43656	0.1257	L	0.29908	0.895	0.47037	D	0.999292	D	0.76494	0.999	D	0.80764	0.994	T	0.20672	-1.0268	9	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1477	Q9C0F0	ASXL3_HUMAN	Y	1477	ENSP00000269197:H1477Y	ENSP00000269197:H1477Y	H	+	1	0	ASXL3	29578239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.088000	0.57678	2.941000	0.99782	0.655000	0.94253	CAC		PASS	0.532	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			8	34	8	34	---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33722805	33722805	+	Silent	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:33722805A>T	ENST00000358232.6	+	8	735	c.672A>T	c.(670-672)ctA>ctT	p.L224L	ELP2_ENST00000350494.6_Silent_p.L263L|ELP2_ENST00000542824.1_Silent_p.L198L|ELP2_ENST00000442325.2_Silent_p.L289L|ELP2_ENST00000423854.2_Silent_p.L154L|ELP2_ENST00000351393.6_Silent_p.L198L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	224					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.L224L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATCTTTTCCTAGCAAGCTGTT	0.264																																						uc002kzk.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(670-672)CTA>CTT		elongator protein 2							50.0	53.0	52.0					18																	33722805		2203	4294	6497	SO:0001819	synonymous_variant	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33722805A>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.672A>T	18.37:g.33722805A>T						ELP2_uc010xcg.1_Silent_p.L289L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.L198L|ELP2_uc010xch.1_Silent_p.L263L|ELP2_uc002kzn.1_Silent_p.L198L|ELP2_uc002kzo.1_Silent_p.L154L	p.L224L	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			8	682	+			224			WD 5.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	ENST00000358232.6	37	c.672A>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	A	9.200	1.028307	0.19512	.	.	ENSG00000134759	ENST00000535093	.	.	.	5.17	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.9307	3.446	0.07481	0.558:0.0:0.1617:0.2804	.	.	.	.	L	45	.	.	X	+	2	0	ELP2	31976803	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	0.803000	0.27083	0.024000	0.15214	0.402000	0.26972	TAG		PASS	0.264	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		7	33	7	33	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34322742	34322742	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:34322742C>A	ENST00000359247.4	+	18	3226	c.3226C>A	c.(3226-3228)Cag>Aag	p.Q1076K	FHOD3_ENST00000591635.1_Missense_Mutation_p.Q289K|FHOD3_ENST00000445677.1_Missense_Mutation_p.Q1055K|FHOD3_ENST00000257209.4_Missense_Mutation_p.Q1093K|FHOD3_ENST00000592128.1_Missense_Mutation_p.Q72K|FHOD3_ENST00000590592.1_Missense_Mutation_p.Q1268K	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1076	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.Q1093K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGAATAGACCAGTTGGAGAA	0.388																																						uc002kzt.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(3226-3228)CAG>AAG		formin homology 2 domain containing 3							247.0	239.0	242.0					18																	34322742		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34322742C>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3226C>A	18.37:g.34322742C>A	ENSP00000352186:p.Gln1076Lys					FHOD3_uc002kzs.1_Missense_Mutation_p.Q1093K|FHOD3_uc010dmz.1_Missense_Mutation_p.Q808K|FHOD3_uc010dnb.1_Missense_Mutation_p.Q72K	p.Q1076K	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			18	3323	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1076			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3226C>A		.	.	.	.	.	.	.	.	.	.	c	26.8	4.776334	0.90195	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.17854	2.25;2.25;2.25	5.53	5.53	0.82687	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.65975	2.015	0.80722	D	1	B;D;D;B	0.69078	0.417;0.996;0.997;0.126	B;D;D;B	0.76071	0.444;0.979;0.987;0.159	T	0.23013	-1.0200	10	0.72032	D	0.01	.	18.0431	0.89324	0.0:1.0:0.0:0.0	.	297;1055;1076;1093	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	K	1093;1076;1055	ENSP00000257209:Q1093K;ENSP00000352186:Q1076K;ENSP00000411430:Q1055K	ENSP00000257209:Q1093K	Q	+	1	0	FHOD3	32576740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.602000	0.87976	0.651000	0.88453	CAG		PASS	0.388	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		31	142	31	142	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530417	42530417	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:42530417G>A	ENST00000282030.5	+	4	1408	c.1112G>A	c.(1111-1113)gGt>gAt	p.G371D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	371						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G317D(1)|p.G371D(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAAGGGAAGGTTATTCCGCA	0.453									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1111-1113)GGT>GAT		SET binding protein 1 isoform a							59.0	58.0	59.0					18																	42530417		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530417G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1112G>A	18.37:g.42530417G>A	ENSP00000282030:p.Gly371Asp						p.G371D	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1408	+			371					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1112G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	5.026	0.190440	0.09547	.	.	ENSG00000152217	ENST00000282030	T	0.35236	1.32	5.78	3.93	0.45458	.	0.608244	0.16976	N	0.191906	T	0.25938	0.0632	N	0.14661	0.345	0.09310	N	0.999997	B	0.26258	0.145	B	0.21708	0.036	T	0.17228	-1.0376	10	0.54805	T	0.06	.	17.0149	0.86415	0.0:0.5637:0.4363:0.0	.	371	Q9Y6X0	SETBP_HUMAN	D	371	ENSP00000282030:G371D	ENSP00000282030:G371D	G	+	2	0	SETBP1	40784415	0.051000	0.20477	0.952000	0.39060	0.184000	0.23303	1.094000	0.30951	0.855000	0.35359	0.655000	0.94253	GGT		PASS	0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		5	38	5	38	---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43577752	43577752	+	Missense_Mutation	SNP	C	C	A	rs546885905		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:43577752C>A	ENST00000409746.5	-	9	676	c.605G>T	c.(604-606)cGa>cTa	p.R202L	PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.R202L	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	202						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R202L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCACTCTTCTCGGACCTTATC	0.567																																						uc002lbp.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(604-606)CGA>CTA		proline-serine-threonine phosphatase interacting							114.0	98.0	103.0					18																	43577752		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43577752C>A		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.605G>T	18.37:g.43577752C>A	ENSP00000387261:p.Arg202Leu					PSTPIP2_uc002lbq.3_Missense_Mutation_p.R202L	p.R202L	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN			9	701	-			202						Missense_Mutation	SNP	ENST00000409746.5	37	c.605G>T	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259945	0.80246	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.47177	0.85	5.5	5.5	0.81552	.	0.134615	0.48767	D	0.000163	T	0.71550	0.3353	M	0.86268	2.805	0.43355	D	0.995424	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.934	T	0.69942	-0.5008	10	0.30854	T	0.27	.	18.5287	0.90983	0.0:1.0:0.0:0.0	.	202;202	Q9H939-2;Q9H939	.;PPIP2_HUMAN	L	202	ENSP00000387261:R202L	ENSP00000353189:R202L	R	-	2	0	PSTPIP2	41831750	1.000000	0.71417	0.988000	0.46212	0.569000	0.35902	5.379000	0.66196	2.743000	0.94032	0.455000	0.32223	CGA		PASS	0.567	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			7	31	7	31	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560078	44560078	+	Missense_Mutation	SNP	G	G	T	rs202182645		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:44560078G>T	ENST00000332567.4	-	1	1910	c.1558C>A	c.(1558-1560)Cct>Act	p.P520T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	520	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P520T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGCAGGCAGGCCTGGAGCCC	0.617																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1558-1560)CCT>ACT		elongin A2							71.0	81.0	77.0					18																	44560078		2203	4297	6500	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560078G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1558C>A	18.37:g.44560078G>T	ENSP00000331302:p.Pro520Thr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P520T	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1911	-			520			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1558C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.222463	0.00024	.	.	ENSG00000206181	ENST00000332567	T	0.05081	3.5	1.33	-2.67	0.06059	.	2.265130	0.02231	N	0.064929	T	0.02888	0.0086	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34625	-0.9821	10	0.02654	T	1	-0.1368	0.2474	0.00200	0.2416:0.1988:0.1651:0.3945	.	520	Q8IYF1	ELOA2_HUMAN	T	520	ENSP00000331302:P520T	ENSP00000331302:P520T	P	-	1	0	TCEB3B	42814076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.869000	0.01643	-1.925000	0.01063	-2.545000	0.00179	CCT		PASS	0.617	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		14	65	14	65	---	---	---	---
FECH	2235	broad.mit.edu	37	18	55221491	55221491	+	Splice_Site	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:55221491C>A	ENST00000262093.5	-	9	1229		c.e9+1		FECH_ENST00000382873.3_Splice_Site	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase						cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GGTGCATTTACCTCCTTGGCT	0.373																																						uc002lgq.3																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1	GRCh37	CS930809	FECH	S		c.e9+1		ferrochelatase isoform b precursor							234.0	231.0	232.0					18																	55221491		2203	4300	6503	SO:0001630	splice_region_variant	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55221491C>A	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.1077+1G>T	18.37:g.55221491C>A						FECH_uc002lgp.3_Splice_Site_p.E365_splice|FECH_uc002lgr.3_Splice_Site_p.E217_splice	p.E359_splice	NM_000140	NP_000131	P22830	HEMH_HUMAN			9	1194	-		Colorectal(73;0.227)						A8KA72|Q8IXN1|Q8NAN0	Splice_Site	SNP	ENST00000262093.5	37	c.1077_splice	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739082	0.89573	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FECH	53372489	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	7.322000	0.79097	2.941000	0.99782	0.655000	0.94253	.		PASS	0.373	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1		Intron	27	121	27	121	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59854895	59854895	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:59854895G>T	ENST00000398130.2	+	1	389	c.157G>T	c.(157-159)Ggc>Tgc	p.G53C	PIGN_ENST00000400334.3_5'Flank|PIGN_ENST00000357637.5_5'Flank|KIAA1468_ENST00000256858.6_Missense_Mutation_p.G53C|PIGN_ENST00000593225.1_5'Flank	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	53								p.G53C(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGGCTCTGCGGGCTCGCTGTC	0.687																																						uc002lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(157-159)GGC>TGC		hypothetical protein LOC57614							50.0	60.0	57.0					18																	59854895		2000	4150	6150	SO:0001583	missense	57614						binding	g.chr18:59854895G>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.157G>T	18.37:g.59854895G>T	ENSP00000381198:p.Gly53Cys					PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Missense_Mutation_p.G53C|KIAA1468_uc010xel.1_Missense_Mutation_p.G53C	p.G53C	NM_020854	NP_065905	Q9P260	K1468_HUMAN			1	372	+		Colorectal(73;0.186)	53						Missense_Mutation	SNP	ENST00000398130.2	37	c.157G>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971186	0.74246	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.44083	0.93;0.93	5.29	5.29	0.74685	.	0.420222	0.21249	U	0.077680	T	0.32556	0.0833	N	0.14661	0.345	0.33822	D	0.629169	P;B	0.41131	0.739;0.329	P;B	0.45829	0.494;0.303	T	0.36529	-0.9744	9	.	.	.	-0.2207	13.0837	0.59127	0.0773:0.0:0.9227:0.0	.	53;53	Q9P260-2;Q9P260	.;K1468_HUMAN	C	53	ENSP00000381198:G53C;ENSP00000256858:G53C	.	G	+	1	0	KIAA1468	58005875	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.985000	0.70556	2.752000	0.94435	0.655000	0.94253	GGC		PASS	0.687	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		9	40	9	40	---	---	---	---
TNFRSF11A	8792	broad.mit.edu	37	18	60028957	60028957	+	Missense_Mutation	SNP	G	G	A	rs537966416		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:60028957G>A	ENST00000586569.1	+	7	699	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	221					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.A221T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTTCTCTTCGCGTCTGTGGC	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19660	0.0		0.0	False		,,,				2504	0.0					uc002lin.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(661-663)GCG>ACG		tumor necrosis factor receptor superfamily,							238.0	232.0	234.0					18																	60028957		2203	4300	6503	SO:0001583	missense	8792	Paget_Disease_of_Bone			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60028957G>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.661G>A	18.37:g.60028957G>A	ENSP00000465500:p.Ala221Thr					TNFRSF11A_uc010dpv.2_Intron	p.A221T	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			7	699	+		Colorectal(73;0.188)	221			Helical; (Potential).		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.661G>A	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635646	0.14322	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.66	-6.82	0.01698	.	1.895360	0.02421	N	0.082616	T	0.14485	0.0350	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	8	.	.	.	1.0942	8.1072	0.30892	0.1627:0.1041:0.5963:0.1369	.	221	Q9Y6Q6	TNR11_HUMAN	T	221	.	.	A	+	1	0	TNFRSF11A	58179937	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-2.487000	0.00977	-1.035000	0.03291	-0.946000	0.02672	GCG		PASS	0.413	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			31	159	31	159	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60609017	60609017	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:60609017G>C	ENST00000262719.5	+	11	3261	c.3027G>C	c.(3025-3027)gaG>gaC	p.E1009D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E497D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1009					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E1009D(2)|p.E496D(1)		endometrium(2)|kidney(2)|lung(13)	17						TTTCCGAAGAGACAAACAGTA	0.448																																						uc002lis.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1489-1491)GAG>GAC		PH domain and leucine rich repeat protein							54.0	52.0	53.0					18																	60609017		1868	4117	5985	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60609017G>C	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3027G>C	18.37:g.60609017G>C	ENSP00000262719:p.Glu1009Asp						p.E497D	NM_194449	NP_919431	O60346	PHLP1_HUMAN			12	1669	+			1009					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.1491G>C	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555205	0.45487	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.25749	1.87;1.78	4.75	4.75	0.60458	.	.	.	.	.	T	0.19327	0.0464	L	0.28694	0.88	0.35714	D	0.816594	B	0.21071	0.051	B	0.21360	0.034	T	0.13522	-1.0506	9	0.22109	T	0.4	-21.3834	13.3281	0.60471	0.0786:0.0:0.9214:0.0	.	1009	O60346	PHLP1_HUMAN	D	497;1009	ENSP00000383170:E497D;ENSP00000262719:E1009D	ENSP00000262719:E1009D	E	+	3	2	PHLPP1	58759997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.403000	0.52615	2.457000	0.83068	0.460000	0.39030	GAG		PASS	0.448	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		5	16	5	16	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61306466	61306466	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:61306466G>A	ENST00000341074.5	-	7	836	c.721C>T	c.(721-723)Cta>Tta	p.L241L	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	241					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L241L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATCATGCTTAGATCTTTGCCT	0.423																																						uc002ljf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(721-723)CTA>TTA		serine (or cysteine) proteinase inhibitor, clade							183.0	156.0	165.0					18																	61306466		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61306466G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.721C>T	18.37:g.61306466G>A						SERPINB4_uc002lje.2_Silent_p.L220L|SERPINB4_uc002ljg.2_Intron	p.L241L	NM_002974	NP_002965	P48594	SPB4_HUMAN			7	807	-			241					A8K847	Silent	SNP	ENST00000341074.5	37	c.721C>T	CCDS11986.1																																																																																				PASS	0.423	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		4	69	4	69	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61310792	61310792	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:61310792G>C	ENST00000341074.5	-	2	135	c.20C>G	c.(19-21)gCc>gGc	p.A7G	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A7G	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	7					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A7G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CTTGGTGTTGGCTTCACTGAG	0.393																																						uc002ljf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(19-21)GCC>GGC		serine (or cysteine) proteinase inhibitor, clade							235.0	220.0	225.0					18																	61310792		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61310792G>C	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.20C>G	18.37:g.61310792G>C	ENSP00000343445:p.Ala7Gly					SERPINB4_uc002lje.2_Missense_Mutation_p.A7G|SERPINB4_uc002ljg.2_Intron	p.A7G	NM_002974	NP_002965	P48594	SPB4_HUMAN			2	106	-			7					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.20C>G	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.971441|2.971441	0.53614|0.53614	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.85556|.	-2.0;-2.0;-2.0|.	3.77|3.77	2.89|2.89	0.33648|0.33648	Serpin domain (2);|.	0.000000|.	0.41097|.	D|.	0.000946|.	T|T	0.51958|0.51958	0.1705|0.1705	M|M	0.63169|0.63169	1.94|1.94	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.41052|0.41052	-0.9530|-0.9530	10|5	0.87932|.	D|.	0|.	.|.	10.3477|10.3477	0.43916|0.43916	0.0975:0.0:0.9025:0.0|0.0975:0.0:0.9025:0.0	.|.	7;7|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	G|A	7|9	ENSP00000343445:A7G;ENSP00000348795:A7G;ENSP00000399796:A7G|.	ENSP00000343445:A7G|.	A|P	-|-	2|1	0|0	SERPINB4|SERPINB4	59461772|59461772	0.783000|0.783000	0.28701|0.28701	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	3.979000|3.979000	0.56888|0.56888	0.919000|0.919000	0.36945|0.36945	0.603000|0.603000	0.83216|0.83216	GCC|CCA		PASS	0.393	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		22	107	22	107	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76754395	76754395	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:76754395G>A	ENST00000537592.2	+	2	2404	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K	SALL3_ENST00000575389.2_Missense_Mutation_p.E802K|SALL3_ENST00000536229.3_Missense_Mutation_p.E669K	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	802				DDDMDE -> NDNLDK (in Ref. 2; CAB65124). {ECO:0000305}.	forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E802K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGACATGGACGAGAACTCCAT	0.677																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2404-2406)GAG>AAG		sal-like 3							62.0	61.0	61.0					18																	76754395		2202	4300	6502	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754395G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2404G>A	18.37:g.76754395G>A	ENSP00000441823:p.Glu802Lys					SALL3_uc010dra.2_Missense_Mutation_p.E409K	p.E802K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2404	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	802	DDDMDE -> NDNLDK (in Ref. 2; CAB65124).				Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2404G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087519	0.36855	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.11063	2.81	5.3	5.3	0.74995	.	0.429994	0.21015	N	0.081607	T	0.13072	0.0317	L	0.55481	1.735	0.80722	D	1	P;P	0.52842	0.495;0.956	B;B	0.38296	0.108;0.27	T	0.10405	-1.0631	10	0.31617	T	0.26	-23.152	18.9687	0.92707	0.0:0.0:1.0:0.0	.	534;802	F5GXY4;Q9BXA9	.;SALL3_HUMAN	K	802;802;534	ENSP00000441823:E802K	ENSP00000299466:E802K	E	+	1	0	SALL3	74855383	1.000000	0.71417	0.946000	0.38457	0.332000	0.28634	9.787000	0.99055	2.477000	0.83638	0.561000	0.74099	GAG		PASS	0.677	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		4	13	4	13	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76754397	76754397	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:76754397G>A	ENST00000537592.2	+	2	2406	c.2406G>A	c.(2404-2406)gaG>gaA	p.E802E	SALL3_ENST00000575389.2_Silent_p.E802E|SALL3_ENST00000536229.3_Silent_p.E669E	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	802				DDDMDE -> NDNLDK (in Ref. 2; CAB65124). {ECO:0000305}.	forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E802E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACATGGACGAGAACTCCATGG	0.682																																						uc002lmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2404-2406)GAG>GAA		sal-like 3							61.0	60.0	60.0					18																	76754397		2202	4300	6502	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754397G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2406G>A	18.37:g.76754397G>A						SALL3_uc010dra.2_Silent_p.E409E	p.E802E	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2406	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	802	DDDMDE -> NDNLDK (in Ref. 2; CAB65124).				Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2406G>A	CCDS12013.1																																																																																				PASS	0.682	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		4	12	4	12	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76755125	76755125	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr18:76755125C>A	ENST00000537592.2	+	2	3134	c.3134C>A	c.(3133-3135)cCc>cAc	p.P1045H	SALL3_ENST00000575389.2_Missense_Mutation_p.P973H|SALL3_ENST00000536229.3_Missense_Mutation_p.P840H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1045					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1045H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTCTAGGTCCCAGCCAAAGC	0.537																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3133-3135)CCC>CAC		sal-like 3							98.0	96.0	97.0					18																	76755125		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755125C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3134C>A	18.37:g.76755125C>A	ENSP00000441823:p.Pro1045His					SALL3_uc010dra.2_Missense_Mutation_p.P580H	p.P1045H	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3134	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1045					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.3134C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994574	0.54041	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.11063	2.81	4.97	4.97	0.65823	.	0.000000	0.56097	D	0.000025	T	0.22781	0.0550	L	0.38175	1.15	0.51012	D	0.999907	D;D	0.76494	0.989;0.999	P;P	0.61328	0.769;0.887	T	0.00920	-1.1514	10	0.56958	D	0.05	-36.0101	18.2445	0.89981	0.0:1.0:0.0:0.0	.	705;1045	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	1045;973;705	ENSP00000441823:P1045H	ENSP00000299466:P1045H	P	+	2	0	SALL3	74856113	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.953000	0.63624	2.294000	0.77228	0.462000	0.41574	CCC		PASS	0.537	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		5	36	5	36	---	---	---	---
ABHD17A	81926	broad.mit.edu	37	19	1881263	1881263	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																						uc002lug.2																			3	Substitution - coding silent(3)		lung(2)|endometrium(1)		0						c.(301-303)TGC>TGT		hypothetical protein LOC81926 isoform 2							35.0	39.0	38.0					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	81926					extracellular region	hydrolase activity	g.chr19:1881263G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A						FAM108A1_uc002lud.2_Silent_p.C101C|FAM108A1_uc002lue.2_Silent_p.C101C|FAM108A1_uc002luf.2_Silent_p.C101C	p.C101C	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	709	-		Ovarian(11;0.000137)	101					A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.303C>T	CCDS45902.1																																																																																				PASS	0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		5	31	5	31	---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2799758	2799758	+	Silent	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:2799758G>C	ENST00000307741.6	+	5	761	c.558G>C	c.(556-558)acG>acC	p.T186T	THOP1_ENST00000586677.1_Silent_p.T65T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	186					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.T186T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		ACGAGGACACGACCTTCCTGC	0.612																																						uc002lwj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(556-558)ACG>ACC		thimet oligopeptidase 1							148.0	106.0	120.0					19																	2799758		2203	4300	6503	SO:0001819	synonymous_variant	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2799758G>C		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.558G>C	19.37:g.2799758G>C						THOP1_uc010xgz.1_Silent_p.T65T	p.T186T	NM_003249	NP_003240	P52888	THOP1_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	713	+			186					B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	c.558G>C	CCDS12095.1																																																																																				PASS	0.612	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			3	33	3	33	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456269	5456269	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:5456269G>C	ENST00000222033.4	+	1	844	c.767G>C	c.(766-768)tGg>tCg	p.W256S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	256						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.W256S(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCGTGTCCTGGGTGCTGGGC	0.682																																						uc002mca.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(766-768)TGG>TCG		zinc and ring finger 4 precursor							44.0	48.0	47.0					19																	5456269		2160	4251	6411	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456269G>C	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.767G>C	19.37:g.5456269G>C	ENSP00000222033:p.Trp256Ser						p.W256S	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	844	+			256			Helical; (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.767G>C	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054864	0.36277	.	.	ENSG00000105428	ENST00000222033	T	0.04360	3.64	4.33	3.22	0.36961	.	0.335128	0.27710	U	0.018167	T	0.11281	0.0275	L	0.36672	1.1	0.18873	N	0.999986	D	0.71674	0.998	D	0.77557	0.99	T	0.08432	-1.0722	10	0.38643	T	0.18	.	9.7622	0.40539	0.0:0.0:0.7362:0.2638	.	256	Q8WWF5	ZNRF4_HUMAN	S	256	ENSP00000222033:W256S	ENSP00000222033:W256S	W	+	2	0	ZNRF4	5407269	0.873000	0.30073	0.004000	0.12327	0.090000	0.18270	2.183000	0.42565	0.626000	0.30322	0.491000	0.48974	TGG		PASS	0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		10	23	10	23	---	---	---	---
ZNF121	7675	broad.mit.edu	37	19	9677404	9677404	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:9677404T>A	ENST00000586602.1	-	6	801	c.385A>T	c.(385-387)Aca>Tca	p.T129S	ZNF121_ENST00000320451.6_Missense_Mutation_p.T129S			P58317	ZN121_HUMAN	zinc finger protein 121	129					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.T129S(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						GCATGGCTTGTGGAGTAAGTA	0.368																																						uc010xkp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)ACA>TCA		zinc finger protein 121							86.0	74.0	78.0					19																	9677404		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677404T>A	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.385A>T	19.37:g.9677404T>A	ENSP00000468643:p.Thr129Ser					ZNF121_uc010dwt.2_Missense_Mutation_p.T129S|ZNF121_uc010xkq.1_Missense_Mutation_p.T129S	p.T129S	NM_001008727	NP_001008727	P58317	ZN121_HUMAN			4	617	-			129			C2H2-type 2; degenerate.			Missense_Mutation	SNP	ENST00000586602.1	37	c.385A>T		.	.	.	.	.	.	.	.	.	.	T	7.912	0.736659	0.15574	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.12147	2.71	1.3	0.208	0.15221	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02380	0.0073	N	0.00332	-1.63	0.09310	N	1	B	0.25441	0.126	B	0.26517	0.07	T	0.42189	-0.9466	9	0.02654	T	1	.	4.614	0.12417	0.0:0.2063:0.0:0.7937	.	129	P58317	ZN121_HUMAN	S	129	ENSP00000326967:T129S	ENSP00000326967:T129S	T	-	1	0	ZNF121	9538404	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-3.125000	0.00593	0.009000	0.14813	0.402000	0.26972	ACA		PASS	0.368	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		10	27	10	27	---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12089327	12089327	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:12089327G>T	ENST00000358987.3	+	4	715	c.588G>T	c.(586-588)ggG>ggT	p.G196G	ZNF763_ENST00000343949.5_Silent_p.G199G|ZNF763_ENST00000538752.1_Silent_p.G216G|ZNF763_ENST00000545530.1_Silent_p.G74G|ZNF763_ENST00000590798.1_Silent_p.G216G			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G198G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGCACAGTGGGGATGGACCTT	0.403																																						uc002msw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(586-588)GGG>GGT		zinc finger protein 763							120.0	121.0	121.0					19																	12089327		2203	4300	6503	SO:0001819	synonymous_variant	284390				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12089327G>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.588G>T	19.37:g.12089327G>T						ZNF763_uc010xmf.1_Silent_p.G216G|ZNF763_uc002msv.2_Silent_p.G199G|ZNF763_uc010xmg.1_Silent_p.G74G	p.G196G	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN			4	743	+			196					B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37	c.588G>T																																																																																					PASS	0.403	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		64	58	64	58	---	---	---	---
SYCE2	256126	broad.mit.edu	37	19	13011312	13011312	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:13011312C>T	ENST00000293695.7	-	4	475	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	153					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.V153M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACAGTCTCCACGCTGTGGCAG	0.527																																						uc002mvr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)GTG>ATG		synaptonemal complex central element protein 2							86.0	76.0	79.0					19																	13011312		1928	4129	6057	SO:0001583	missense	256126				cell division	central element		g.chr19:13011312C>T	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.457G>A	19.37:g.13011312C>T	ENSP00000293695:p.Val153Met						p.V153M	NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN			4	472	-			153					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.457G>A	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022029	0.54576	.	.	ENSG00000161860	ENST00000293695	D	0.81499	-1.5	4.68	3.65	0.41850	.	0.248894	0.33980	N	0.004366	T	0.76463	0.3991	L	0.34521	1.04	0.37236	D	0.905885	D	0.67145	0.996	P	0.50934	0.654	T	0.80502	-0.1354	10	0.72032	D	0.01	-4.8678	10.1593	0.42842	0.0:0.9027:0.0:0.0973	.	153	Q6PIF2	SYCE2_HUMAN	M	153	ENSP00000293695:V153M	ENSP00000293695:V153M	V	-	1	0	SYCE2	12872312	0.952000	0.32445	0.809000	0.32408	0.892000	0.51952	1.997000	0.40786	1.179000	0.42884	0.462000	0.41574	GTG		PASS	0.527	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		11	48	11	48	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15574963	15574963	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:15574963C>A	ENST00000343625.7	-	2	292	c.207G>T	c.(205-207)cgG>cgT	p.R69R		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	69					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.R69R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGATAGGACCCGACGGAATA	0.682																																						uc002nbe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)CGG>CGT		RAS protein activator like 3							19.0	22.0	21.0					19																	15574963		1982	4162	6144	SO:0001819	synonymous_variant	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574963C>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.207G>T	19.37:g.15574963C>A							p.R69R	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			2	293	-			69					Q8N2T9|Q9H735	Silent	SNP	ENST00000343625.7	37	c.207G>T	CCDS46006.1																																																																																				PASS	0.682	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		24	10	24	10	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839146	15839146	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:15839146C>A	ENST00000305899.3	+	1	313	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A98D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGGCCTGTGCCAGTCAGATG	0.632																																						uc002nbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(292-294)GCC>GAC		olfactory receptor, family 10, subfamily H,							62.0	57.0	59.0					19																	15839146		2202	4278	6480	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839146C>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.293C>A	19.37:g.15839146C>A	ENSP00000306095:p.Ala98Asp						p.A98D	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	313	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		98			Extracellular (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.293C>A	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	18.73	3.687320	0.68157	.	.	ENSG00000171942	ENST00000305899	T	0.20069	2.1	3.4	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.132610	0.34067	N	0.004282	T	0.43166	0.1235	H	0.95365	3.66	0.30669	N	0.753585	P	0.49358	0.923	P	0.52710	0.707	T	0.53816	-0.8385	10	0.87932	D	0	.	4.7472	0.13043	0.0:0.7195:0.0:0.2805	.	98	O60403	O10H2_HUMAN	D	98	ENSP00000306095:A98D	ENSP00000306095:A98D	A	+	2	0	OR10H2	15700146	0.000000	0.05858	0.996000	0.52242	0.941000	0.58515	0.272000	0.18644	1.446000	0.47643	0.537000	0.68136	GCC		PASS	0.632	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			27	33	27	33	---	---	---	---
ABHD8	79575	broad.mit.edu	37	19	17405196	17405196	+	Silent	SNP	G	G	A	rs536645024		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:17405196G>A	ENST00000247706.3	-	4	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	350							hydrolase activity (GO:0016787)	p.G350G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGACCTCGTCGCCCTCGGGCC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16753	0.001		0.0	False		,,,				2504	0.0				Ovarian(156;1368 2543 15275 41187)	uc002ngb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1048-1050)GGC>GGT		abhydrolase domain containing 8							125.0	98.0	107.0					19																	17405196		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405196G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1050C>T	19.37:g.17405196G>A							p.G350G	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			4	1290	-			350					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.1050C>T	CCDS12355.1																																																																																				PASS	0.612	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		9	108	9	108	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240824	21240824	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:21240824G>A	ENST00000261560.5	+	5	1891	c.1710G>A	c.(1708-1710)atG>atA	p.M570I	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	570					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M570I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCTACAAATGTGAAGATTGT	0.393																																						uc002npj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1708-1710)ATG>ATA		zinc finger protein 430							25.0	28.0	27.0					19																	21240824		2138	4262	6400	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240824G>A	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1710G>A	19.37:g.21240824G>A	ENSP00000261560:p.Met570Ile					ZNF430_uc002npk.2_Missense_Mutation_p.M569I	p.M570I	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1820	+			570					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1710G>A	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.111267	0.37242	.	.	ENSG00000118620	ENST00000261560	T	0.04809	3.55	1.0	-0.974	0.10293	.	.	.	.	.	T	0.02610	0.0079	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48581	-0.9023	9	0.15499	T	0.54	.	6.9615	0.24599	0.0:0.0:0.7336:0.2664	.	569;570	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	570	ENSP00000261560:M570I	ENSP00000261560:M570I	M	+	3	0	ZNF430	21032664	0.999000	0.42202	0.708000	0.30435	0.679000	0.39708	3.846000	0.55888	0.446000	0.26666	0.449000	0.29647	ATG		PASS	0.393	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		15	16	15	16	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574527	22574527	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:22574527G>T	ENST00000357774.5	-	4	1631	c.1510C>A	c.(1510-1512)Cac>Aac	p.H504N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	504					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.H504N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTAGTAAGGTGTGAGGACTGG	0.383																																						uc002nqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1510-1512)CAC>AAC		zinc finger protein 98							68.0	60.0	63.0					19																	22574527		2183	4279	6462	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574527G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1510C>A	19.37:g.22574527G>T	ENSP00000350418:p.His504Asn						p.H504N	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1632	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	504			C2H2-type 12.			Missense_Mutation	SNP	ENST00000357774.5	37	c.1510C>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.655386	0.00108	.	.	ENSG00000197360	ENST00000357774	T	0.13196	2.61	1.26	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	N	0.25825	0.765	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.44251	-0.9340	9	0.09338	T	0.73	.	1.5036	0.02482	0.1555:0.199:0.4449:0.2006	.	504	A6NK75	ZNF98_HUMAN	N	504	ENSP00000350418:H504N	ENSP00000350418:H504N	H	-	1	0	ZNF98	22366367	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.091000	0.01355	-0.977000	0.03537	-0.940000	0.02684	CAC		PASS	0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		94	37	94	37	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22952052	22952052	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:22952052C>T	ENST00000596209.1	-	2	168	c.78G>A	c.(76-78)caG>caA	p.Q26Q	ZNF99_ENST00000397104.3_Silent_p.Q47Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q47H(1)|p.Q47Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATATAAATTCTGCTGAGCCA	0.383																																						uc010xrh.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|skin(1)	2						c.(139-141)CAG>CAA		zinc finger protein 99							77.0	84.0	81.0					19																	22952052		2201	4300	6501	SO:0001819	synonymous_variant	7652							g.chr19:22952052C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.78G>A	19.37:g.22952052C>T							p.Q47Q	NM_001080409	NP_001073878					2	141	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.141G>A	CCDS59369.1																																																																																				PASS	0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		80	39	80	39	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039578	31039578	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:31039578C>G	ENST00000355537.3	+	4	3199	c.3052C>G	c.(3052-3054)Ctt>Gtt	p.L1018V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1018					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.L1018V(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)					GCTCATGGCCCTTCATCTCCA	0.572																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3052-3054)CTT>GTT		zinc finger protein 536							78.0	70.0	72.0					19																	31039578		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039578C>G		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.3052C>G	19.37:g.31039578C>G	ENSP00000347730:p.Leu1018Val					ZNF536_uc010edd.1_Missense_Mutation_p.L1018V	p.L1018V	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3190	+	Esophageal squamous(110;0.0834)		1018					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3052C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076988	0.20227	.	.	ENSG00000198597	ENST00000355537	T	0.17370	2.28	5.89	3.79	0.43588	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.29908	0.895	0.46654	D	0.999144	D;D	0.62365	0.991;0.991	P;P	0.55923	0.787;0.787	T	0.01111	-1.1448	10	0.29301	T	0.29	-16.53	12.6983	0.57016	0.0:0.8691:0.0:0.1309	.	1018;1018	A7E228;O15090	.;ZN536_HUMAN	V	1018	ENSP00000347730:L1018V	ENSP00000347730:L1018V	L	+	1	0	ZNF536	35731418	1.000000	0.71417	0.693000	0.30195	0.016000	0.09150	4.615000	0.61190	0.837000	0.34925	-0.768000	0.03414	CTT		PASS	0.572	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		56	18	56	18	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33587209	33587209	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:33587209G>T	ENST00000170564.2	+	7	1023	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	237					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.A237S(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCATGGTCTAGCTTACAAGGG	0.463																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(709-711)GCT>TCT		G patch domain containing 1							149.0	145.0	146.0					19																	33587209		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33587209G>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.709G>T	19.37:g.33587209G>T	ENSP00000170564:p.Ala237Ser						p.A237S	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			7	1023	+	Esophageal squamous(110;0.137)		237					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.709G>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924703	0.52653	.	.	ENSG00000076650	ENST00000170564	T	0.11169	2.8	5.55	5.55	0.83447	.	0.106561	0.64402	D	0.000006	T	0.08313	0.0207	N	0.15975	0.35	0.80722	D	1	B	0.33000	0.393	B	0.27500	0.08	T	0.25082	-1.0142	10	0.59425	D	0.04	-2.623	18.4856	0.90828	0.0:0.0:1.0:0.0	.	237	Q9BRR8	GPTC1_HUMAN	S	237	ENSP00000170564:A237S	ENSP00000170564:A237S	A	+	1	0	GPATCH1	38279049	1.000000	0.71417	0.991000	0.47740	0.300000	0.27592	9.043000	0.93799	2.606000	0.88127	0.655000	0.94253	GCT		PASS	0.463	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		117	78	117	78	---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37905157	37905157	+	Missense_Mutation	SNP	T	T	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:37905157T>G	ENST00000316950.6	-	6	960	c.403A>C	c.(403-405)Aat>Cat	p.N135H	ZNF569_ENST00000592490.1_3'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.N135H|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	135					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.N135H(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATAGAGATTGTGTCTGGAA	0.313																																						uc002ogi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(403-405)AAT>CAT		zinc finger protein 569							86.0	85.0	85.0					19																	37905157		2203	4299	6502	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905157T>G	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.403A>C	19.37:g.37905157T>G	ENSP00000325018:p.Asn135His					ZNF569_uc002ogh.2_5'UTR|ZNF569_uc002ogj.2_Missense_Mutation_p.N159H	p.N135H	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	961	-			135					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.403A>C	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	2.297	-0.361132	0.05103	.	.	ENSG00000196437	ENST00000316950	T	0.07114	3.22	3.58	2.56	0.30785	.	0.757276	0.10846	N	0.627626	T	0.07324	0.0185	L	0.29908	0.895	0.28114	N	0.930892	B	0.32693	0.38	B	0.33295	0.161	T	0.21381	-1.0247	10	0.87932	D	0	.	8.1822	0.31317	0.0:0.1083:0.0:0.8917	.	135	Q5MCW4	ZN569_HUMAN	H	135	ENSP00000325018:N135H	ENSP00000325018:N135H	N	-	1	0	ZNF569	42596997	0.039000	0.19947	0.025000	0.17156	0.244000	0.25665	2.418000	0.44662	1.631000	0.50456	0.482000	0.46254	AAT		PASS	0.313	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		56	47	56	47	---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38912755	38912755	+	Missense_Mutation	SNP	C	C	A	rs376854073		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:38912755C>A	ENST00000587738.1	-	2	132	c.62G>T	c.(61-63)cGa>cTa	p.R21L	RASGRP4_ENST00000586305.1_Missense_Mutation_p.R21L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R21L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R21L|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R21L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R21L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R21L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R21Q(1)|p.R21L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCCGGCCTCGCCCTCCTAT	0.617																																						uc002oir.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|lung(1)|skin(1)	3						c.(61-63)CGA>CTA		RAS guanyl releasing protein 4 isoform a							36.0	44.0	41.0					19																	38912755		1952	4134	6086	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38912755C>A	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.62G>T	19.37:g.38912755C>A	ENSP00000465772:p.Arg21Leu					RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R21L|RASGRP4_uc010xub.1_Missense_Mutation_p.R21L|RASGRP4_uc010xuc.1_Missense_Mutation_p.R21L|RASGRP4_uc010xud.1_Missense_Mutation_p.R21L|RASGRP4_uc010xue.1_Missense_Mutation_p.R21L|RASGRP4_uc010egb.2_Missense_Mutation_p.R21L	p.R21L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	276	-	all_cancers(60;4.21e-06)		21					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.62G>T	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279819	0.23392	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.06	1.85	0.25348	Ras guanine nucleotide exchange factor, domain (1);	0.770535	0.11194	N	0.589583	T	0.19805	0.0476	M	0.64997	1.995	0.09310	N	1	B;B;B;P;P;B;P	0.40515	0.005;0.002;0.426;0.719;0.569;0.068;0.719	B;B;B;B;B;B;B	0.30179	0.001;0.001;0.112;0.103;0.072;0.019;0.103	T	0.24693	-1.0153	10	0.87932	D	0	-11.0923	4.1614	0.10285	0.1864:0.6248:0.0:0.1888	.	21;21;21;21;21;21;21	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	L	21	ENSP00000411878:R21L;ENSP00000293062:R21L;ENSP00000445966:R21L;ENSP00000416463:R21L	ENSP00000293062:R21L	R	-	2	0	RASGRP4	43604595	0.029000	0.19370	0.748000	0.31131	0.122000	0.20287	0.293000	0.19029	0.468000	0.27243	0.455000	0.32223	CGA		PASS	0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		22	15	22	15	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39019676	39019676	+	Missense_Mutation	SNP	G	G	T	rs193922838		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:39019676G>T	ENST00000359596.3	+	76	11120	c.11120G>T	c.(11119-11121)cGc>cTc	p.R3707L	RYR1_ENST00000355481.4_Missense_Mutation_p.R3702L|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.R3707L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3707					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R3707L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CACTTCAGCCGCACTGCCCTG	0.637																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	GRCh37	CM064216	RYR1	M		c.(11119-11121)CGC>CTC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						76.0	63.0	68.0					19																	39019676		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39019676G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11120G>T	19.37:g.39019676G>T	ENSP00000352608:p.Arg3707Leu					RYR1_uc002oiu.2_Missense_Mutation_p.R3702L|RYR1_uc002oiv.1_Missense_Mutation_p.R622L|RYR1_uc010xuf.1_Missense_Mutation_p.R627L	p.R3707L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		76	11250	+	all_cancers(60;7.91e-06)		3707					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11120G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	14.45	2.538066	0.45176	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97303	-4.32;-4.33;-4.31	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000005	D	0.97838	0.9290	M	0.81802	2.56	0.44762	D	0.997761	D;D;D	0.57257	0.979;0.979;0.965	P;P;B	0.53861	0.736;0.569;0.366	D	0.98645	1.0677	10	0.87932	D	0	.	17.7982	0.88579	0.0:0.0:1.0:0.0	.	3707;3702;3707	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	L	3707;3702;3707;627	ENSP00000352608:R3707L;ENSP00000347667:R3702L;ENSP00000354254:R3707L	ENSP00000347667:R3702L	R	+	2	0	RYR1	43711516	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.358000	0.79466	2.503000	0.84419	0.651000	0.88453	CGC		PASS	0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	13	9	13	---	---	---	---
CYP2A6	1548	broad.mit.edu	37	19	41354554	41354554	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:41354554G>A	ENST00000301141.5	-	3	478	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	153					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A153V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAGGAAGCCCGCCTCCTCCTG	0.706																																						uc002opl.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(457-459)GCG>GTG		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						39.0	42.0	41.0					19																	41354554		2203	4299	6502	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354554G>A	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.458C>T	19.37:g.41354554G>A	ENSP00000301141:p.Ala153Val					CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	p.A153V	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	479	-			153					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.458C>T	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	17.91	3.504767	0.64410	.	.	ENSG00000255974	ENST00000301141	T	0.71461	-0.57	2.95	0.175	0.15045	.	0.117066	0.56097	U	0.000023	T	0.69396	0.3106	L	0.43757	1.38	0.09310	N	0.999993	D	0.69078	0.997	P	0.57846	0.828	T	0.60414	-0.7268	10	0.66056	D	0.02	.	7.3897	0.26903	0.0:0.2009:0.6316:0.1675	.	153	P11509	CP2A6_HUMAN	V	153	ENSP00000301141:A153V	ENSP00000301141:A153V	A	-	2	0	CYP2A6	46046394	0.000000	0.05858	0.365000	0.25901	0.095000	0.18619	0.310000	0.19356	0.439000	0.26476	0.386000	0.25728	GCG		PASS	0.706	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		5	62	5	62	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825636	41825636	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:41825636C>T	ENST00000269967.3	+	3	782	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	220								p.L220L(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CTTGCCCGCTCTCCAACTTGC	0.652																																						uc002oqg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)CTC>CTT		coiled-coil domain containing 97							41.0	45.0	43.0					19																	41825636		2203	4300	6503	SO:0001819	synonymous_variant	90324							g.chr19:41825636C>T	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.660C>T	19.37:g.41825636C>T						CYP2F1_uc010xvw.1_Intron	p.L220L	NM_052848	NP_443080	Q96F63	CCD97_HUMAN			3	782	+			220					Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	c.660C>T	CCDS12578.1																																																																																				PASS	0.652	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		35	19	35	19	---	---	---	---
PSG8	440533	broad.mit.edu	37	19	43258691	43258691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:43258691G>T	ENST00000306511.4	-	5	1134	c.1037C>A	c.(1036-1038)tCa>tAa	p.S346*	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Nonsense_Mutation_p.S346*|PSG8_ENST00000401467.2_Nonsense_Mutation_p.S253*|PSG8_ENST00000406636.3_Nonsense_Mutation_p.S224*	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	346	Ig-like C2-type 3.					extracellular region (GO:0005576)		p.S346*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GACTTCTCCTGAACGGTAATA	0.478																																						uc002ouo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1036-1038)TCA>TAA		pregnancy specific beta-1-glycoprotein 8 isoform							75.0	84.0	81.0					19																	43258691		2202	4296	6498	SO:0001587	stop_gained	440533					extracellular region		g.chr19:43258691G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1037C>A	19.37:g.43258691G>T	ENSP00000305005:p.Ser346*					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Nonsense_Mutation_p.S185*|PSG8_uc002ouh.2_Nonsense_Mutation_p.S346*|PSG8_uc010ein.2_Nonsense_Mutation_p.S224*|PSG8_uc002ouj.3_Nonsense_Mutation_p.S128*|PSG8_uc002ouk.3_Nonsense_Mutation_p.S185*|PSG8_uc002oul.3_Nonsense_Mutation_p.S346*|PSG8_uc002oum.3_Nonsense_Mutation_p.S253*|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Nonsense_Mutation_p.S253*	p.S346*	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			5	1135	-		Prostate(69;0.00899)	346			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Nonsense_Mutation	SNP	ENST00000306511.4	37	c.1037C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	13.23	2.174759	0.38413	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	.	.	.	1.38	0.163	0.14986	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.75	0.13056	0.0:0.0:0.6366:0.3634	.	.	.	.	X	346;128;224;253;158;253;346	.	ENSP00000292109:S128X	S	-	2	0	PSG8	47950531	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.637000	0.05459	-0.089000	0.12484	-0.901000	0.02856	TCA		PASS	0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			109	62	109	62	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47192836	47192836	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:47192836C>A	ENST00000291281.4	-	14	2154	c.1929G>T	c.(1927-1929)aaG>aaT	p.K643N	RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.K643N|PRKD2_ENST00000600194.1_Missense_Mutation_p.K486N|PRKD2_ENST00000433867.1_Missense_Mutation_p.K643N|PRKD2_ENST00000601806.1_Missense_Mutation_p.K486N			Q9BZL6	KPCD2_HUMAN	protein kinase D2	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.K643N(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCAGCCGGCCCTTCTCACTGG	0.602																																						uc002pfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1927-1929)AAG>AAT		protein kinase D2 isoform A							123.0	105.0	111.0					19																	47192836		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47192836C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1929G>T	19.37:g.47192836C>A	ENSP00000291281:p.Lys643Asn					PRKD2_uc002pfd.2_Missense_Mutation_p.K17N|PRKD2_uc010eks.2_Missense_Mutation_p.K46N|PRKD2_uc010ekt.2_Translation_Start_Site|PRKD2_uc002pfe.2_Missense_Mutation_p.K163N|PRKD2_uc002pff.2_Missense_Mutation_p.K163N|PRKD2_uc002pfg.2_Missense_Mutation_p.K486N|PRKD2_uc002pfi.2_Missense_Mutation_p.K643N|PRKD2_uc002pfj.2_Missense_Mutation_p.K643N|PRKD2_uc010xye.1_Missense_Mutation_p.K643N|PRKD2_uc002pfk.2_Missense_Mutation_p.K486N	p.K643N	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	15	2271	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	643			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1929G>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421384	0.42918	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65732	-0.17;-0.17	5.06	4.02	0.46733	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	0.64402	D	0.000001	T	0.44519	0.1297	N	0.13168	0.305	0.48185	D	0.9996	B;B;B	0.24576	0.106;0.002;0.106	B;B;B	0.31016	0.085;0.029;0.123	T	0.36817	-0.9732	10	0.41790	T	0.15	-32.7414	8.9942	0.36041	0.0:0.8267:0.0:0.1733	.	643;128;643	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	N	643	ENSP00000291281:K643N;ENSP00000393978:K643N	ENSP00000291281:K643N	K	-	3	2	PRKD2	51884676	0.903000	0.30736	1.000000	0.80357	0.997000	0.91878	0.034000	0.13776	1.249000	0.43950	0.655000	0.94253	AAG		PASS	0.602	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		15	11	15	11	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47575179	47575179	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:47575179C>A	ENST00000253048.5	-	13	2039	c.2002G>T	c.(2002-2004)Ggc>Tgc	p.G668C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	668	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G668C(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ATTGGAGGGCCGCCAGGGCCC	0.607																																						uc002pga.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)	6						c.(2002-2004)GGC>TGC		zinc finger CCCH-type containing 4							31.0	37.0	35.0					19																	47575179		2043	4197	6240	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575179C>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2002G>T	19.37:g.47575179C>A	ENSP00000253048:p.Gly668Cys					ZC3H4_uc002pgb.1_Intron	p.G668C	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	2040	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	668			Pro-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2002G>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292402	0.40594	.	.	ENSG00000130749	ENST00000253048	T	0.20200	2.09	5.35	5.35	0.76521	.	1.886000	0.02302	N	0.071301	T	0.37046	0.0989	L	0.29908	0.895	0.47214	D	0.999357	D	0.89917	1.0	D	0.70716	0.97	T	0.06023	-1.0850	10	0.30854	T	0.27	.	10.0661	0.42303	0.0:0.9084:0.0:0.0916	.	668	Q9UPT8	ZC3H4_HUMAN	C	668	ENSP00000253048:G668C	ENSP00000253048:G668C	G	-	1	0	ZC3H4	52267019	0.980000	0.34600	0.923000	0.36655	0.645000	0.38454	4.120000	0.57897	2.507000	0.84556	0.643000	0.83706	GGC		PASS	0.607	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			19	9	19	9	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47951365	47951365	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:47951365G>A	ENST00000236877.6	-	4	1859	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	SLC8A2_ENST00000542837.1_Silent_p.G244G|SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	488					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.G488G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTGCGCGTCGCCCACGCGCA	0.692																																						uc002pgx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1462-1464)GGC>GGT		solute carrier family 8 member 2 precursor							22.0	21.0	21.0					19																	47951365		2196	4292	6488	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47951365G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1464C>T	19.37:g.47951365G>A						SLC8A2_uc010xyq.1_Silent_p.G244G|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.G488G	p.G488G	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	4	1742	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	488			Cytoplasmic (Potential).		B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.1464C>T	CCDS33065.1																																																																																				PASS	0.692	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			6	12	6	12	---	---	---	---
CGB7	94027	broad.mit.edu	37	19	49557609	49557609	+	Missense_Mutation	SNP	G	G	T	rs138708969	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:49557609G>T	ENST00000597853.1	-	5	3308	c.437C>A	c.(436-438)cCc>cAc	p.P146H	CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000377280.3_Missense_Mutation_p.P146H|CGB7_ENST00000596965.1_Missense_Mutation_p.P146H|CGB7_ENST00000356213.4_Missense_Mutation_p.P144H			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	146					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.P146H(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TGGAAGGCTGGGGGGAGGGGC	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		14126	0.002		0.0	False		,,,				2504	0.0					uc002pmd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)CCC>CAC		chorionic gonadotropin, beta polypeptide 7	Choriogonadotropin alfa(DB00097)						27.0	27.0	27.0					19																	49557609		1505	2688	4193	SO:0001583	missense	94027				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49557609G>T	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.437C>A	19.37:g.49557609G>T	ENSP00000470813:p.Pro146His					CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.P146H	p.P146H	NM_033142	NP_149133	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	802	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	146					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000597853.1	37	c.437C>A	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604229	0.28534	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.50548	0.74;0.74	1.46	-1.23	0.09465	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.09310	N	1	P	0.46064	0.872	B	0.30251	0.113	T	0.16453	-1.0402	8	0.87932	D	0	.	4.3216	0.11020	0.4328:0.0:0.5672:0.0	.	176	A6NKQ9	CGB1_HUMAN	H	146;144	ENSP00000366493:P146H;ENSP00000348545:P144H	ENSP00000348545:P144H	P	-	2	0	CGB7	54249421	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.069000	0.11542	-0.260000	0.09418	0.205000	0.17691	CCC		PASS	0.642	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		31	35	31	35	---	---	---	---
CD37	951	broad.mit.edu	37	19	49842171	49842171	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:49842171C>A	ENST00000323906.4	+	6	803	c.662C>A	c.(661-663)gCa>gAa	p.A221E	CD37_ENST00000426897.2_Missense_Mutation_p.A153E|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Missense_Mutation_p.A153E|CD37_ENST00000535669.2_Missense_Mutation_p.A221E	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	221					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A221E(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GCTGTCCCTGCAGAGAGCCAC	0.622																																						uc002pnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)GCA>GAA		CD37 antigen isoform A							46.0	44.0	45.0					19																	49842171		2203	4300	6503	SO:0001583	missense	951					integral to membrane		g.chr19:49842171C>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.662C>A	19.37:g.49842171C>A	ENSP00000325708:p.Ala221Glu					uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.A221E|CD37_uc010yan.1_Missense_Mutation_p.A153E|CD37_uc002pnf.3_Missense_Mutation_p.A193E|CD37_uc002pne.2_Missense_Mutation_p.A153E	p.A221E	NM_001774	NP_001765	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	6	783	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	221			Extracellular (Potential).		B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.662C>A	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	C	1.537	-0.542862	0.04053	.	.	ENSG00000104894	ENST00000323906;ENST00000426897;ENST00000535669	T;T;T	0.79141	-1.24;-1.24;-1.24	2.89	0.631	0.17699	Tetraspanin, EC2 domain (1);	0.378699	0.22280	N	0.062137	T	0.56819	0.2011	L	0.37630	1.12	0.09310	N	1	B;B;B;B	0.17852	0.004;0.013;0.024;0.007	B;B;B;B	0.17979	0.02;0.017;0.017;0.017	T	0.37174	-0.9717	10	0.05525	T	0.97	.	3.5149	0.07721	0.2458:0.6145:0.0:0.1397	.	153;221;221;221	B4DVC1;B7ZAN3;B4DW15;P11049	.;.;.;CD37_HUMAN	E	221;153;221	ENSP00000325708:A221E;ENSP00000413151:A153E;ENSP00000441037:A221E	ENSP00000325708:A221E	A	+	2	0	CD37	54533983	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.268000	0.08607	0.240000	0.21263	-0.424000	0.05967	GCA		PASS	0.622	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			25	20	25	20	---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51021570	51021570	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:51021570C>A	ENST00000599957.1	-	3	1597	c.1400G>T	c.(1399-1401)gGc>gTc	p.G467V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G467V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	467	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.G467V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		gccgcccccgccgctgccggt	0.716																																						uc002pss.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1399-1401)GGC>GTC		leucine rich repeat containing 4B precursor							11.0	14.0	13.0					19																	51021570		1788	3932	5720	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021570C>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1400G>T	19.37:g.51021570C>A	ENSP00000471502:p.Gly467Val						p.G467V	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1537	-		all_neural(266;0.131)	467			Gly-rich.|Extracellular (Potential).		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1400G>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	2.964	-0.213868	0.06101	.	.	ENSG00000131409	ENST00000389201	T	0.58940	0.3	1.6	-3.21	0.05140	.	.	.	.	.	T	0.31009	0.0783	N	0.08118	0	0.09310	N	0.999991	B	0.24721	0.11	B	0.15052	0.012	T	0.17048	-1.0382	9	0.17369	T	0.5	.	11.6231	0.51130	0.0:0.2382:0.7618:0.0	.	467	Q9NT99	LRC4B_HUMAN	V	467	ENSP00000373853:G467V	ENSP00000373853:G467V	G	-	2	0	LRRC4B	55713382	0.931000	0.31567	0.000000	0.03702	0.547000	0.35210	0.000000	0.12993	-1.339000	0.02230	0.407000	0.27541	GGC		PASS	0.716	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		11	11	11	11	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51128529	51128529	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:51128529C>A	ENST00000338916.4	-	7	2230	c.1597G>T	c.(1597-1599)Ggc>Tgc	p.G533C	SYT3_ENST00000544769.1_Missense_Mutation_p.G533C|SYT3_ENST00000593901.1_Missense_Mutation_p.G533C|SYT3_ENST00000600079.1_Missense_Mutation_p.G533C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	533	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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.G533C(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)		CGGCACACGCCGATCACCTCG	0.711																																						uc002pst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1597-1599)GGC>TGC		synaptotagmin III							18.0	17.0	17.0					19																	51128529		2181	4236	6417	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51128529C>A	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.1597G>T	19.37:g.51128529C>A	ENSP00000340914:p.Gly533Cys					SYT3_uc002psv.2_Missense_Mutation_p.G533C|SYT3_uc010ycd.1_Missense_Mutation_p.G533C	p.G533C	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	7	2231	-		all_neural(266;0.131)	533			C2 2.|Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1597G>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957951	0.73902	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	D;D	0.92545	-3.06;-3.06	3.98	3.98	0.46160	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000008	D	0.97739	0.9258	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	533	Q9BQG1	SYT3_HUMAN	C	533	ENSP00000340914:G533C;ENSP00000438883:G533C	ENSP00000340914:G533C	G	-	1	0	SYT3	55820341	1.000000	0.71417	0.999000	0.59377	0.568000	0.35870	5.688000	0.68227	1.969000	0.57287	0.561000	0.74099	GGC		PASS	0.711	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		4	5	4	5	---	---	---	---
KLK11	11012	broad.mit.edu	37	19	51527457	51527457	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:51527457G>A	ENST00000594768.1	-	4	588	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	KLK11_ENST00000600362.1_Intron|KLK11_ENST00000453757.3_Missense_Mutation_p.P103S|KLK11_ENST00000319720.7_Missense_Mutation_p.P103S|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000391804.3_Missense_Mutation_p.P128S	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	135	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P135S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TCTTTGTTGGGGAGGCTGTTG	0.607																																						uc002pvd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)CCC>TCC		kallikrein 11 isoform 2 precursor							108.0	85.0	93.0					19																	51527457		2203	4300	6503	SO:0001583	missense	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51527457G>A	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.403C>T	19.37:g.51527457G>A	ENSP00000473047:p.Pro135Ser					KLK11_uc002pvb.1_Missense_Mutation_p.P128S|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Missense_Mutation_p.P103S|KLK11_uc002pvc.3_Missense_Mutation_p.P103S|KLK11_uc010eom.2_3'UTR	p.P135S	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	4	515	-		all_neural(266;0.026)	135			Peptidase S1.		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	c.403C>T	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	g	9.325	1.058930	0.19987	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.88124	-2.34;-2.34;-2.34	4.32	4.32	0.51571	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37857	U	0.001914	T	0.71239	0.3316	N	0.01668	-0.77	0.30785	N	0.741541	B;B	0.25486	0.03;0.127	B;B	0.37091	0.033;0.241	T	0.64145	-0.6476	10	0.08381	T	0.77	.	14.3438	0.66646	0.0:0.0:1.0:0.0	.	135;128	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	S	128;103;103;135	ENSP00000375680:P128S;ENSP00000324269:P103S;ENSP00000413958:P103S	ENSP00000324269:P103S	P	-	1	0	KLK11	56219269	0.830000	0.29337	1.000000	0.80357	0.972000	0.66771	-0.002000	0.12924	2.219000	0.72066	0.462000	0.41574	CCC		PASS	0.607	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		42	33	42	33	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51918210	51918210	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:51918210T>A	ENST00000339313.5	-	8	1599	c.1483A>T	c.(1483-1485)Acc>Tcc	p.T495S	SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.T437S|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T495S			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	495					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T495S(1)|p.T437S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAGCTGGGGGTGACCTCGAAG	0.701																																						uc002pwo.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1483-1485)ACC>TCC		sialic acid binding Ig-like lectin 10 precursor							29.0	32.0	31.0					19																	51918210		2203	4297	6500	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918210T>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1483A>T	19.37:g.51918210T>A	ENSP00000345243:p.Thr495Ser					SIGLEC10_uc002pwp.2_Missense_Mutation_p.T437S|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron	p.T495S	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	2099	-		all_neural(266;0.0199)	495			Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1483A>T	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.16	1.854689	0.32791	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.85773	-2.03;-2.03;-2.03	4.83	1.25	0.21368	.	0.382247	0.23032	N	0.052735	T	0.81312	0.4796	M	0.81802	2.56	0.09310	N	1	P;P	0.44429	0.835;0.605	B;B	0.42738	0.396;0.377	T	0.68254	-0.5457	10	0.17369	T	0.5	.	3.3049	0.06996	0.36:0.1014:0.0:0.5386	.	437;495	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	S	495;437;495	ENSP00000348646:T495S;ENSP00000389132:T437S;ENSP00000345243:T495S	ENSP00000345243:T495S	T	-	1	0	SIGLEC10	56610022	0.921000	0.31238	0.110000	0.21437	0.004000	0.04260	0.868000	0.27982	0.192000	0.20272	0.459000	0.35465	ACC		PASS	0.701	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		29	22	29	22	---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52217094	52217094	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:52217094C>A	ENST00000222115.1	-	5	1357	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V	HAS1_ENST00000601714.1_Silent_p.V448V|HAS1_ENST00000540069.2_Silent_p.V440V	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	441					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.V441V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCCAGTGCCACGCCCTGCA	0.701																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1321-1323)GTG>GTT		hyaluronan synthase 1							20.0	20.0	20.0					19																	52217094		2189	4285	6474	SO:0001819	synonymous_variant	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217094C>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1323G>T	19.37:g.52217094C>A						HAS1_uc010epc.1_Silent_p.V41V|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Silent_p.V448V|HAS1_uc002pxp.1_Silent_p.V440V	p.V441V	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1358	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	441			Helical; Name=4; (Potential).		Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	c.1323G>T	CCDS12838.1																																																																																				PASS	0.701	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		20	10	20	10	---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53208581	53208581	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:53208581C>A	ENST00000319783.1	-	7	2043	c.1727G>T	c.(1726-1728)aGt>aTt	p.S576I	ZNF611_ENST00000453741.2_Missense_Mutation_p.S507I|ZNF611_ENST00000595798.1_Missense_Mutation_p.S507I|ZNF611_ENST00000543227.1_Missense_Mutation_p.S576I|ZNF611_ENST00000540744.1_Missense_Mutation_p.S576I|ZNF611_ENST00000602162.1_Missense_Mutation_p.S507I|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	576					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.S576I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGACCTGTGACTGAAGGTCTT	0.433																																						uc002pzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1726-1728)AGT>ATT		zinc finger protein 611 isoform a							256.0	232.0	240.0					19																	53208581		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208581C>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1727G>T	19.37:g.53208581C>A	ENSP00000322427:p.Ser576Ile					ZNF611_uc010eqc.2_Missense_Mutation_p.S506I|ZNF611_uc010ydo.1_Missense_Mutation_p.S506I|ZNF611_uc010ydr.1_Missense_Mutation_p.S507I|ZNF611_uc010ydp.1_Missense_Mutation_p.S576I|ZNF611_uc010ydq.1_Missense_Mutation_p.S576I|ZNF611_uc002qaa.3_Missense_Mutation_p.S506I	p.S576I	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	2044	-			576			C2H2-type 13.		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1727G>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	6.888	0.533227	0.13188	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	L	0.46741	1.465	0.09310	N	1	B	0.25272	0.122	B	0.24701	0.055	T	0.26189	-1.0110	9	0.35671	T	0.21	.	9.8748	0.41197	0.0:0.3903:0.6097:0.0	.	576	Q8N823	ZN611_HUMAN	I	576;576;507;576	ENSP00000437616:S576I;ENSP00000439211:S576I;ENSP00000443505:S507I;ENSP00000322427:S576I	ENSP00000322427:S576I	S	-	2	0	ZNF611	57900393	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-7.713000	0.00031	-0.742000	0.04790	0.313000	0.20887	AGT		PASS	0.433	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		216	115	216	115	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56953880	56953880	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:56953880G>A	ENST00000504904.3	-	7	1203	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ZNF667_ENST00000342634.3_Missense_Mutation_p.H290Y|ZNF667_ENST00000292069.6_Missense_Mutation_p.H162Y|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	162					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.H162Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATGTTCTGATGAAGTTTAAGA	0.373																																						uc002qnd.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(484-486)CAT>TAT		zinc finger protein 667							84.0	87.0	86.0					19																	56953880		2203	4299	6502	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953880G>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.484C>T	19.37:g.56953880G>A	ENSP00000439402:p.His162Tyr					ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.H162Y|ZNF667_uc010etm.2_Missense_Mutation_p.H105Y	p.H162Y	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	646	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	162			C2H2-type 1.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.484C>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632462	0.46944	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	D;D;D	0.86769	-2.17;-2.17;-2.17	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000339	D	0.95686	0.8597	H	0.97158	3.95	0.46061	D	0.998846	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.96814	0.9599	10	0.66056	D	0.02	-9.2598	15.5202	0.75859	0.0:0.0:1.0:0.0	.	290;162	E7EPS0;Q5HYK9	.;ZN667_HUMAN	Y	290;162;162;36	ENSP00000344699:H290Y;ENSP00000439402:H162Y;ENSP00000292069:H162Y	ENSP00000292069:H162Y	H	-	1	0	ZNF667	61645692	1.000000	0.71417	0.718000	0.30602	0.002000	0.02628	8.699000	0.91316	2.519000	0.84933	0.585000	0.79938	CAT		PASS	0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		102	54	102	54	---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57840469	57840469	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr19:57840469G>C	ENST00000321545.4	+	4	1984	c.1639G>C	c.(1639-1641)Ggc>Cgc	p.G547R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	547					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.G547R(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		TTTTAATCGCGGCTCATCCCT	0.463																																						uc002qoi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(1639-1641)GGC>CGC		zinc finger protein 543							95.0	88.0	90.0					19																	57840469		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840469G>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1639G>C	19.37:g.57840469G>C	ENSP00000322545:p.Gly547Arg						p.G547R	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1984	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	547			C2H2-type 13.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1639G>C	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.261823	0.00262	.	.	ENSG00000178229	ENST00000321545	T	0.26660	1.72	2.87	0.609	0.17575	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	N	0.03948	-0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	9	0.19147	T	0.46	.	1.1008	0.01683	0.5128:0.1892:0.1141:0.1839	.	547	Q08ER8	ZN543_HUMAN	R	547	ENSP00000322545:G547R	ENSP00000322545:G547R	G	+	1	0	ZNF543	62532281	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.247000	0.18179	-0.064000	0.13043	-0.487000	0.04747	GGC		PASS	0.463	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		37	40	37	40	---	---	---	---
TCF15	6939	broad.mit.edu	37	20	590488	590489	+	Missense_Mutation	DNP	CG	CG	AC			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:590488_590489CG>AC	ENST00000246080.3	-	1	553_554	c.393_394CG>GT	c.(391-396)ggCGac>ggGTac	p.D132Y		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	132					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D132Y(1)|p.G131G(1)		autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				TCGGCCGAGTCGCCCAGCAGCA	0.738																																						uc002wdz.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(394-396)GAC>TAC|c.(391-393)GGC>GGG		basic helix-loop-helix transcription factor 15																																				SO:0001583	missense	6939				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:590488C>A|g.chr20:590489G>C		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"""Basic helix-loop-helix proteins"""	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.393_394delinsAC	20.37:g.590488_590489delinsAC	ENSP00000246080:p.Asp132Tyr						p.D132Y|p.G131G	NM_004609	NP_004600	Q12870	TCF15_HUMAN			1	423|422	-		Breast(17;0.231)	132|131					Q9NQQ1	Missense_Mutation|Silent	SNP	ENST00000246080.3	37	c.394G>T|c.393C>G	CCDS33432.1																																																																																				PASS	0.738	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		3	5	3	5	---	---	---	---
SIRPB1	10326	broad.mit.edu	37	20	1552405	1552405	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:1552405G>A	ENST00000381605.4	-	3	776	c.712C>T	c.(712-714)Cct>Tct	p.P238S	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	238	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P238S(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCACGAAGAGGGTCCCCCTGC	0.617																																						uc010gai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(712-714)CCT>TCT		signal-regulatory protein beta 1 isoform 1							115.0	103.0	107.0					20																	1552405		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552405G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.712C>T	20.37:g.1552405G>A	ENSP00000371018:p.Pro238Ser					SIRPB1_uc002wfk.3_Intron	p.P238S	NM_006065	NP_006056	O00241	SIRB1_HUMAN			3	811	-			238			Ig-like C1-type 1.|Extracellular (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.712C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681030	0.29872	.	.	ENSG00000101307	ENST00000381605	T	0.03468	3.92	2.47	1.48	0.22813	Immunoglobulin-like (1);	0.506903	0.18260	N	0.146665	T	0.09379	0.0231	H	0.95004	3.61	0.52501	D	0.999956	B	0.28378	0.209	B	0.28385	0.089	T	0.01084	-1.1457	10	0.66056	D	0.02	.	5.2441	0.15487	0.1759:0.0:0.8241:0.0	.	238	O00241	SIRB1_HUMAN	S	238	ENSP00000371018:P238S	ENSP00000371018:P238S	P	-	1	0	SIRPB1	1500405	0.916000	0.31088	0.710000	0.30468	0.390000	0.30446	0.876000	0.28092	0.381000	0.24851	0.456000	0.33151	CCT		PASS	0.617	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		31	25	31	25	---	---	---	---
CENPB	1059	broad.mit.edu	37	20	3766827	3766827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:3766827C>A	ENST00000379751.4	-	1	510	c.304G>T	c.(304-306)Gag>Tag	p.E102*	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	102	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)	p.E102*(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						AGCGCCTTCTCCTTGAGGATG	0.667																																						uc002wjk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(304-306)GAG>TAG		centromere protein B							50.0	57.0	54.0					20																	3766827		2203	4299	6502	SO:0001587	stop_gained	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766827C>A	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.304G>T	20.37:g.3766827C>A	ENSP00000369075:p.Glu102*					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.E102*	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	511	-			102			HTH CENPB-type.|H-T-H motif.		Q96EI4	Nonsense_Mutation	SNP	ENST00000379751.4	37	c.304G>T	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	37	6.262604	0.97421	.	.	ENSG00000125817	ENST00000379751	.	.	.	3.32	3.32	0.38043	.	0.000000	0.37483	U	0.002072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6398	12.1364	0.53974	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000369075:E102X	E	-	1	0	CENPB	3714827	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	0.780000	0.26760	1.408000	0.46895	0.187000	0.17357	GAG		PASS	0.667	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		26	40	26	40	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9523318	9523318	+	Missense_Mutation	SNP	T	T	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:9523318T>G	ENST00000378429.3	-	10	2465	c.1919A>C	c.(1918-1920)gAg>gCg	p.E640A	PAK7_ENST00000378423.1_Missense_Mutation_p.E640A|PAK7_ENST00000353224.5_Missense_Mutation_p.E640A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	640	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E640A(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTAGGGGGGCTCGCCATCAAT	0.527																																						uc002wnl.2																			1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1918-1920)GAG>GCG		p21-activated kinase 7							131.0	121.0	124.0					20																	9523318		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9523318T>G	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1919A>C	20.37:g.9523318T>G	ENSP00000367686:p.Glu640Ala					PAK7_uc002wnk.2_Missense_Mutation_p.E640A|PAK7_uc002wnj.2_Missense_Mutation_p.E640A|PAK7_uc010gby.1_Intron	p.E640A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		10	2464	-			640			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1919A>C	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095756	0.76870	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.66815	-0.23;-0.23;-0.23	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041860	0.85682	D	0.000000	T	0.73179	0.3554	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71695	-0.4515	9	.	.	.	.	16.3662	0.83325	0.0:0.0:0.0:1.0	.	640	Q9P286	PAK7_HUMAN	A	640	ENSP00000367686:E640A;ENSP00000322957:E640A;ENSP00000367679:E640A	.	E	-	2	0	PAK7	9471318	1.000000	0.71417	0.977000	0.42913	0.313000	0.28021	8.040000	0.89188	2.274000	0.75844	0.533000	0.62120	GAG		PASS	0.527	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			35	42	35	42	---	---	---	---
NKX2-4	644524	broad.mit.edu	37	20	21376611	21376611	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:21376611C>A	ENST00000351817.4	-	2	1631	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	335					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A335S(1)		lung(2)|upper_aerodigestive_tract(1)	3						Tccccggcggccgcgtccagg	0.781																																						uc010gcz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GCC>TCC		NK2 homeobox 4							8.0	9.0	8.0					20																	21376611		1045	2483	3528	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376611C>A		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.1003G>T	20.37:g.21376611C>A	ENSP00000345147:p.Ala335Ser						p.A335S	NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN			2	1013	-			335					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.1003G>T	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.233588	0.00277	.	.	ENSG00000125816	ENST00000351817	D	0.91011	-2.77	4.19	0.952	0.19584	.	.	.	.	.	T	0.73087	0.3542	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.61392	-0.7072	9	0.02654	T	1	.	7.2708	0.26256	0.4116:0.5048:0.0:0.0836	.	335	Q9H2Z4	NKX24_HUMAN	S	335	ENSP00000345147:A335S	ENSP00000345147:A335S	A	-	1	0	NKX2-4	21324611	0.003000	0.15002	0.206000	0.23566	0.045000	0.14185	0.020000	0.13466	0.946000	0.37632	-0.310000	0.09108	GCC		PASS	0.781	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			4	12	4	12	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898728	30898728	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:30898728G>C	ENST00000375712.3	+	2	1315	c.1148G>C	c.(1147-1149)cGg>cCg	p.R383P	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	383					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R383P(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGAGAGAAGCGGAGGGAAGGT	0.582																																						uc002wxq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)	5						c.(1147-1149)CGG>CCG		kinesin family member 3B							51.0	49.0	50.0					20																	30898728		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898728G>C	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1148G>C	20.37:g.30898728G>C	ENSP00000364864:p.Arg383Pro					KIF3B_uc010ztv.1_Intron|KIF3B_uc010ztw.1_Intron	p.R383P	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1315	+			383			Potential.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1148G>C	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767518	0.49574	.	.	ENSG00000101350	ENST00000375712	T	0.75260	-0.92	4.94	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	L	0.52206	1.635	0.80722	D	1	D	0.62365	0.991	P	0.52031	0.688	T	0.73023	-0.4113	10	0.32370	T	0.25	.	13.706	0.62639	0.0755:0.0:0.9245:0.0	.	383	O15066	KIF3B_HUMAN	P	383	ENSP00000364864:R383P	ENSP00000364864:R383P	R	+	2	0	KIF3B	30362389	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.626000	0.74253	2.583000	0.87209	0.462000	0.41574	CGG		PASS	0.582	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		5	19	5	19	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31592074	31592074	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:31592074G>T	ENST00000356173.3	-	1	165	c.73C>A	c.(73-75)Cgg>Agg	p.R25R	SUN5_ENST00000375519.2_Silent_p.R25R|SUN5_ENST00000375523.3_Silent_p.R25R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	25					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R25R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCTCACCTCCGGGGTCTGGGA	0.582																																						uc002wyi.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(73-75)CGG>AGG		sperm associated antigen 4-like							39.0	36.0	37.0					20																	31592074		2200	4297	6497	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31592074G>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.73C>A	20.37:g.31592074G>T							p.R25R	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			1	166	-			25					A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.73C>A	CCDS13209.1																																																																																				PASS	0.582	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		2	3	2	3	---	---	---	---
BPIFB1	92747	broad.mit.edu	37	20	31894774	31894774	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:31894774C>A	ENST00000253354.1	+	15	1537	c.1376C>A	c.(1375-1377)gCt>gAt	p.A459D	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	459					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.A459D(1)									TTCGAGGCAGCTGAGTCCTCA	0.577																																						uc002wyw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.(1375-1377)GCT>GAT		LPLUNC1 protein precursor							140.0	117.0	125.0					20																	31894774		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31894774C>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1376C>A	20.37:g.31894774C>A	ENSP00000253354:p.Ala459Asp					C20orf114_uc002wyx.1_RNA	p.A459D	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			15	1537	+			459					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.1376C>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849997	0.51270	.	.	ENSG00000125999	ENST00000253354	T	0.08282	3.11	4.63	-1.41	0.08941	.	1.208580	0.05905	N	0.630637	T	0.16811	0.0404	L	0.55481	1.735	0.09310	N	1	D	0.54772	0.968	P	0.55303	0.773	T	0.33317	-0.9873	10	0.66056	D	0.02	-0.357	8.0791	0.30733	0.0:0.4593:0.0:0.5407	.	459	Q8TDL5	BPIB1_HUMAN	D	459	ENSP00000253354:A459D	ENSP00000253354:A459D	A	+	2	0	BPIFB1	31358435	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.566000	0.05922	-0.296000	0.08947	0.561000	0.74099	GCT		PASS	0.577	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		22	61	22	61	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33874999	33874999	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:33874999G>A	ENST00000374408.3	-	4	1679	c.1583C>T	c.(1582-1584)aCc>aTc	p.T528I	FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	528								p.T528I(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGAGTTGGGGGTAACCCCAGA	0.647																																						uc010zux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1582-1584)ACC>ATC		hypothetical protein LOC128876							31.0	34.0	33.0					20																	33874999		2148	4218	6366	SO:0001583	missense	128876							g.chr20:33874999G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1583C>T	20.37:g.33874999G>A	ENSP00000363529:p.Thr528Ile					EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.T183I	p.T528I	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1701	-			528					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1583C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013341	0.07912	.	.	ENSG00000125998	ENST00000374408	T	0.09255	3.0	4.14	2.14	0.27477	.	1.227370	0.05919	N	0.633172	T	0.11110	0.0271	L	0.47190	1.495	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.33420	-0.9869	10	0.62326	D	0.03	-4.0346	4.3871	0.11321	0.1173:0.0:0.6389:0.2438	.	528	Q9BQN1	FA83C_HUMAN	I	528	ENSP00000363529:T528I	ENSP00000363529:T528I	T	-	2	0	FAM83C	33338413	0.111000	0.22076	0.004000	0.12327	0.025000	0.11179	1.673000	0.37534	1.052000	0.40392	0.561000	0.74099	ACC		PASS	0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			13	45	13	45	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33875022	33875022	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:33875022C>T	ENST00000374408.3	-	4	1656	c.1560G>A	c.(1558-1560)gtG>gtA	p.V520V	FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	520								p.V520V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTCTCCCACTTCTCGGG	0.642																																						uc010zux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1558-1560)GTG>GTA		hypothetical protein LOC128876							42.0	43.0	42.0					20																	33875022		2133	4196	6329	SO:0001819	synonymous_variant	128876							g.chr20:33875022C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1560G>A	20.37:g.33875022C>T						EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.V175V	p.V520V	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1678	-			520					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.1560G>A	CCDS13251.1																																																																																				PASS	0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			16	46	16	46	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33876313	33876313	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:33876313C>T	ENST00000374408.3	-	3	853	c.757G>A	c.(757-759)Gag>Aag	p.E253K	FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	253								p.E253K(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACGAACTTCTCCAGGGCCTGC	0.632																																						uc010zux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(757-759)GAG>AAG		hypothetical protein LOC128876							65.0	63.0	64.0					20																	33876313		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33876313C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.757G>A	20.37:g.33876313C>T	ENSP00000363529:p.Glu253Lys					FAM83C_uc002xcb.1_Missense_Mutation_p.E77K	p.E253K	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	875	-			253					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.757G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327127	0.95708	.	.	ENSG00000125998	ENST00000374408	T	0.13089	2.62	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.78344	2.41	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.32455	-0.9906	10	0.72032	D	0.01	-4.9111	15.1315	0.72527	0.0:1.0:0.0:0.0	.	253	Q9BQN1	FA83C_HUMAN	K	253	ENSP00000363529:E253K	ENSP00000363529:E253K	E	-	1	0	FAM83C	33339727	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.911000	0.75746	2.240000	0.73641	0.561000	0.74099	GAG		PASS	0.632	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			10	41	10	41	---	---	---	---
PHF20	51230	broad.mit.edu	37	20	34430532	34430532	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:34430532G>C	ENST00000374012.3	+	3	250	c.121G>C	c.(121-123)Gga>Cga	p.G41R	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.G41R			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	41	Tudor 1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G41R(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTACGAGGAAGGAAAAGTACT	0.403																																						uc002xek.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)GGA>CGA		PHD finger protein 20							191.0	154.0	166.0					20																	34430532		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34430532G>C	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.121G>C	20.37:g.34430532G>C	ENSP00000363124:p.Gly41Arg					PHF20_uc002xei.1_Missense_Mutation_p.G41R|PHF20_uc010gfo.1_Missense_Mutation_p.G41R|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR	p.G41R	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			3	232	+	Breast(12;0.00631)|all_lung(11;0.0145)		41					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.121G>C	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939640	0.73557	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000	T;T;T;T	0.44881	1.55;0.94;0.91;0.91	5.83	4.88	0.63580	Tudor domain (1);	0.053759	0.85682	D	0.000000	T	0.45696	0.1355	N	0.12746	0.255	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	T	0.47649	-0.9101	10	0.31617	T	0.26	.	16.3624	0.83273	0.0:0.0:0.867:0.133	.	41	Q9BVI0	PHF20_HUMAN	R	41	ENSP00000363124:G41R;ENSP00000410373:G41R;ENSP00000341900:G41R;ENSP00000363112:G41R	ENSP00000341900:G41R	G	+	1	0	PHF20	33893946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.652000	0.83633	1.444000	0.47605	0.563000	0.77884	GGA		PASS	0.403	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		6	118	6	118	---	---	---	---
LBP	3929	broad.mit.edu	37	20	36989406	36989406	+	Missense_Mutation	SNP	C	C	A	rs370114388		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:36989406C>A	ENST00000217407.2	+	6	798	c.637C>A	c.(637-639)Ctc>Atc	p.L213I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	213					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.L213I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACAGCCTTATCTCCAAACTCT	0.418																																						uc002xic.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(637-639)CTC>ATC		lipopolysaccharide-binding protein precursor							171.0	169.0	169.0					20																	36989406		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36989406C>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.637C>A	20.37:g.36989406C>A	ENSP00000217407:p.Leu213Ile						p.L213I	NM_004139	NP_004130	P18428	LBP_HUMAN			6	672	+		Myeloproliferative disorder(115;0.00878)	213					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.637C>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107119	0.77096	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.12465	2.68	5.28	5.28	0.74379	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000011	T	0.42381	0.1200	M	0.88450	2.955	0.43351	D	0.995415	D	0.56746	0.977	D	0.63877	0.919	T	0.38735	-0.9647	10	0.46703	T	0.11	-35.8502	16.4665	0.84080	0.0:1.0:0.0:0.0	.	213	P18428	LBP_HUMAN	I	213	ENSP00000217407:L213I	ENSP00000217407:L213I	L	+	1	0	LBP	36422820	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.265000	0.58865	2.756000	0.94617	0.655000	0.94253	CTC		PASS	0.418	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		26	93	26	93	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40102043	40102043	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:40102043C>A	ENST00000373233.3	-	17	2760	c.2583G>T	c.(2581-2583)gcG>gcT	p.A861A	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	861	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.A861A(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGGCCTCCCGCTCTGGTGC	0.517																																						uc002xka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(2581-2583)GCG>GCT		chromodomain helicase DNA binding protein 6							96.0	93.0	94.0					20																	40102043		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40102043C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2583G>T	20.37:g.40102043C>A						CHD6_uc002xkd.2_Silent_p.A839A	p.A861A	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			17	2761	-		Myeloproliferative disorder(115;0.00425)	861			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.2583G>T	CCDS13317.1																																																																																				PASS	0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			12	32	12	32	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40739007	40739007	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:40739007G>A	ENST00000373187.1	-	23	3219	c.3220C>T	c.(3220-3222)Ccc>Tcc	p.P1074S	PTPRT_ENST00000356100.2_Missense_Mutation_p.P1083S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1064S|PTPRT_ENST00000373198.4_Missense_Mutation_p.P1093S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1077S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1084S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1073S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1074	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.P1096S(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)				GCTTCCGGGGGGTTGAGGAAC	0.627																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(3220-3222)CCC>TCC		protein tyrosine phosphatase, receptor type, T							44.0	52.0	50.0					20																	40739007		1945	4145	6090	SO:0001583	missense	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.chr20:40739007G>A	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.3220C>T	20.37:g.40739007G>A	ENSP00000362283:p.Pro1074Ser					PTPRT_uc010ggj.2_Missense_Mutation_p.P1093S|PTPRT_uc010ggi.2_Missense_Mutation_p.P277S	p.P1074S	NM_007050	NP_008981	O14522	PTPRT_HUMAN			23	3404	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1074			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3220C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529003	0.44969	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69	4.8	4.8	0.61643	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.057170	0.64402	D	0.000001	T	0.28101	0.0693	L	0.38953	1.18	0.80722	D	1	P;P	0.39116	0.609;0.66	B;B	0.41466	0.244;0.358	T	0.10636	-1.0621	10	0.87932	D	0	.	18.2503	0.90000	0.0:0.0:1.0:0.0	.	1096;1074	O14522-1;O14522	.;PTPRT_HUMAN	S	1073;1074;1077;1083;1096;1084;1064	ENSP00000362286:P1073S;ENSP00000362283:P1074S;ENSP00000362289:P1077S;ENSP00000348408:P1083S;ENSP00000362294:P1096S;ENSP00000362280:P1084S;ENSP00000362297:P1064S	ENSP00000348408:P1083S	P	-	1	0	PTPRT	40172421	1.000000	0.71417	0.990000	0.47175	0.421000	0.31385	6.635000	0.74295	2.376000	0.81061	0.655000	0.94253	CCC		PASS	0.627	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			7	30	7	30	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40827935	40827935	+	Missense_Mutation	SNP	G	G	T	rs145661499		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:40827935G>T	ENST00000373187.1	-	16	2435	c.2436C>A	c.(2434-2436)agC>agA	p.S812R	PTPRT_ENST00000356100.2_Missense_Mutation_p.S821R|PTPRT_ENST00000373201.1_Missense_Mutation_p.S802R|PTPRT_ENST00000373198.4_Missense_Mutation_p.S831R|PTPRT_ENST00000373193.3_Missense_Mutation_p.S815R|PTPRT_ENST00000373184.1_Missense_Mutation_p.S802R|PTPRT_ENST00000373190.1_Missense_Mutation_p.S812R			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	812					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.S834R(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)				TGCGGCTGGCGCTGAGCTTGG	0.577																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(2434-2436)AGC>AGA		protein tyrosine phosphatase, receptor type, T							220.0	229.0	226.0					20																	40827935		2052	4202	6254	SO:0001583	missense	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.chr20:40827935G>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.2436C>A	20.37:g.40827935G>T	ENSP00000362283:p.Ser812Arg					PTPRT_uc010ggj.2_Missense_Mutation_p.S831R|PTPRT_uc010ggi.2_Missense_Mutation_p.S15R	p.S812R	NM_007050	NP_008981	O14522	PTPRT_HUMAN			16	2620	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	812			Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2436C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344431	0.41498	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36157	1.3;1.3;1.3;1.27;1.3;1.3;1.31	6.03	-2.21	0.06973	.	0.300971	0.44285	D	0.000478	T	0.31263	0.0791	L	0.54323	1.7	0.21719	N	0.999575	B;B	0.16603	0.018;0.01	B;B	0.15484	0.013;0.009	T	0.32107	-0.9919	10	0.72032	D	0.01	.	13.5822	0.61909	0.558:0.0:0.442:0.0	.	834;812	O14522-1;O14522	.;PTPRT_HUMAN	R	812;812;815;821;834;802;802	ENSP00000362286:S812R;ENSP00000362283:S812R;ENSP00000362289:S815R;ENSP00000348408:S821R;ENSP00000362294:S834R;ENSP00000362280:S802R;ENSP00000362297:S802R	ENSP00000348408:S821R	S	-	3	2	PTPRT	40261349	0.976000	0.34144	0.002000	0.10522	0.903000	0.53119	1.010000	0.29898	-0.682000	0.05197	-0.794000	0.03295	AGC		PASS	0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			76	193	76	193	---	---	---	---
SERINC3	10955	broad.mit.edu	37	20	43135617	43135617	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:43135617C>A	ENST00000342374.4	-	6	791	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	SERINC3_ENST00000255175.1_Missense_Mutation_p.A212S|SERINC3_ENST00000541235.1_Missense_Mutation_p.A157S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	212					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.A212S(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATATAAAAGGCGCTTGTGAAA	0.378																																						uc002xme.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(634-636)GCC>TCC		tumor differentially expressed protein 1							81.0	78.0	79.0					20																	43135617		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43135617C>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.634G>T	20.37:g.43135617C>A	ENSP00000340243:p.Ala212Ser					SERINC3_uc002xmf.1_Missense_Mutation_p.A212S|SERINC3_uc010ggs.1_Missense_Mutation_p.A205S|SERINC3_uc010zwp.1_Missense_Mutation_p.A157S	p.A212S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		6	768	-		Myeloproliferative disorder(115;0.0122)	212			Helical; (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.634G>T	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947475	0.34377	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.13657	2.57;2.57;2.57	4.75	-6.79	0.01715	.	1.334860	0.04276	N	0.343006	T	0.07638	0.0192	N	0.17345	0.48	0.09310	N	1	B;B	0.28760	0.023;0.221	B;B	0.36719	0.049;0.231	T	0.31833	-0.9929	10	0.19147	T	0.46	3.9256	2.9338	0.05808	0.5764:0.0911:0.1322:0.2003	.	212;212	Q53GK8;Q13530	.;SERC3_HUMAN	S	212;212;179;157	ENSP00000255175:A212S;ENSP00000340243:A212S;ENSP00000440966:A157S	ENSP00000255175:A212S	A	-	1	0	SERINC3	42569031	0.000000	0.05858	0.002000	0.10522	0.092000	0.18411	-2.891000	0.00709	-1.536000	0.01738	-0.518000	0.04402	GCC		PASS	0.378	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		11	30	11	30	---	---	---	---
UBE2C	11065	broad.mit.edu	37	20	44444350	44444350	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:44444350G>T	ENST00000356455.4	+	4	507	c.387G>T	c.(385-387)agG>agT	p.R129S	UBE2C_ENST00000352551.5_Missense_Mutation_p.R100S|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000372568.4_Missense_Mutation_p.R90S|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000405520.1_Missense_Mutation_p.R90S	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	129					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.R129S(1)		large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				ATGATGTCAGGACCATTCTGC	0.552																																						uc002xpm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)AGG>AGT		ubiquitin-conjugating enzyme E2C isoform 1							106.0	94.0	98.0					20																	44444350		2203	4300	6503	SO:0001583	missense	11065				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr20:44444350G>T	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.387G>T	20.37:g.44444350G>T	ENSP00000348838:p.Arg129Ser					UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Missense_Mutation_p.R90S|UBE2C_uc002xpo.2_Missense_Mutation_p.R100S|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Missense_Mutation_p.R90S	p.R129S	NM_007019	NP_008950	O00762	UBE2C_HUMAN			4	467	+		Myeloproliferative disorder(115;0.0122)	129					A6NP33|E1P5N7|G3XAB7	Missense_Mutation	SNP	ENST00000356455.4	37	c.387G>T	CCDS13370.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488953	0.64074	.	.	ENSG00000175063	ENST00000356455;ENST00000405520;ENST00000352551;ENST00000372568	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.12	5.12	0.69794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	N	0.20766	0.605	0.58432	D	0.999999	D;P	0.69078	0.997;0.805	D;P	0.75484	0.986;0.665	T	0.11867	-1.0570	10	0.18710	T	0.47	-29.543	9.6368	0.39814	0.0948:0.0:0.9052:0.0	.	100;129	A6NP33;O00762	.;UBE2C_HUMAN	S	129;90;100;90	ENSP00000348838:R129S;ENSP00000385878:R90S;ENSP00000333975:R100S;ENSP00000361649:R90S	ENSP00000333975:R100S	R	+	3	2	UBE2C	43877757	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.665000	0.37449	2.383000	0.81215	0.555000	0.69702	AGG		PASS	0.552	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019		25	74	25	74	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44642296	44642296	+	Splice_Site	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:44642296G>T	ENST00000372330.3	+	10	1630	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	537					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G537G(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCTTTCTCAGGAAGTACTGGC	0.677											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xqz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1609-1611)GGG>GGT		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						26.0	29.0	28.0					20																	44642296		2203	4298	6501	SO:0001630	splice_region_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44642296G>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1611-1G>T	20.37:g.44642296G>T			OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.G537G	NM_004994	NP_004985	P14780	MMP9_HUMAN			10	1630	+		Myeloproliferative disorder(115;0.0122)	537			Hemopexin-like 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1611G>T	CCDS13390.1																																																																																				PASS	0.677	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		Silent	8	21	8	21	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44666000	44666000	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:44666000C>A	ENST00000454036.2	+	6	706	c.657C>A	c.(655-657)atC>atA	p.I219I	SLC12A5_ENST00000243964.3_Silent_p.I196I|SLC12A5_ENST00000372315.1_Silent_p.I196I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	219					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.I196I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCATGTACATCCTGGGCACCA	0.562																																						uc010zxl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(655-657)ATC>ATA		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						80.0	67.0	71.0					20																	44666000		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44666000C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.657C>A	20.37:g.44666000C>A						SLC12A5_uc002xra.2_Silent_p.I196I|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.I196I	p.I219I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			6	733	+		Myeloproliferative disorder(115;0.0122)	219			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.657C>A	CCDS46610.1																																																																																				PASS	0.562	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			8	24	8	24	---	---	---	---
B4GALT5	9334	broad.mit.edu	37	20	48252856	48252856	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:48252856T>A	ENST00000371711.4	-	9	1347	c.1160A>T	c.(1159-1161)gAg>gTg	p.E387V		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	387					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.E387V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTCTCAGTACTCGTTCACCTG	0.478																																						uc002xuu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1159-1161)GAG>GTG		UDP-Gal:betaGlcNAc beta 1,4-							215.0	182.0	193.0					20																	48252856		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48252856T>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1160A>T	20.37:g.48252856T>A	ENSP00000360776:p.Glu387Val						p.E387V	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		9	1354	-			387			Lumenal (Potential).		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.1160A>T	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.912719	0.92178	.	.	ENSG00000158470	ENST00000371711	T	0.42900	0.96	5.51	5.51	0.81932	.	0.090275	0.85682	D	0.000000	T	0.39091	0.1065	N	0.22421	0.69	0.80722	D	1	P	0.41910	0.764	P	0.45794	0.493	T	0.37314	-0.9711	10	0.72032	D	0.01	-23.2226	15.641	0.77001	0.0:0.0:0.0:1.0	.	387	O43286	B4GT5_HUMAN	V	387	ENSP00000360776:E387V	ENSP00000360776:E387V	E	-	2	0	B4GALT5	47686263	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	7.841000	0.86834	2.088000	0.63022	0.455000	0.32223	GAG		PASS	0.478	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		4	59	4	59	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57415487	57415487	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:57415487A>G	ENST00000313949.7	+	1	715	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.Y109C|GNAS_ENST00000371075.3_Missense_Mutation_p.Y109C|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Y109C(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGTTCGACTACGAGACCGAG	0.617			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzt.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - Missense(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(325-327)TAC>TGC		GNAS complex locus NESP55							89.0	88.0	88.0					20																	57415487		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415487A>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.326A>G	20.37:g.57415487A>G	ENSP00000323571:p.Tyr109Cys	TSP Lung(22;0.16)				GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	p.Y109C	NM_016592	NP_057676	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	693	+	all_lung(29;0.0104)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.326A>G	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.444705	0.43429	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.76	2.4	0.29515	.	.	.	.	.	T	0.49795	0.1578	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.52631	-0.8550	8	0.56958	D	0.05	.	3.2649	0.06861	0.6863:0.0:0.1099:0.2038	.	109	O95467	GNAS3_HUMAN	C	109;109;109;30	.	ENSP00000323571:Y109C	Y	+	2	0	GNAS	56848882	0.998000	0.40836	1.000000	0.80357	0.840000	0.47671	0.781000	0.26774	1.923000	0.55706	0.477000	0.44152	TAC		PASS	0.617	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		3	88	3	88	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60348181	60348181	+	Missense_Mutation	SNP	C	C	G	rs202223585		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:60348181C>G	ENST00000360469.5	+	4	607	c.519C>G	c.(517-519)atC>atG	p.I173M	CDH4_ENST00000543233.1_Missense_Mutation_p.I99M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	173	Cadherin 1. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I173M(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTGGGTCATCCCGCCCATCA	0.706																																						uc002ybn.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(517-519)ATC>ATG		cadherin 4, type 1 preproprotein							25.0	23.0	24.0					20																	60348181		2201	4298	6499	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60348181C>G	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.519C>G	20.37:g.60348181C>G	ENSP00000353656:p.Ile173Met					CDH4_uc002ybp.1_Missense_Mutation_p.I99M	p.I173M	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		4	533	+			173			Cadherin 1.|Extracellular (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.519C>G	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341226	0.60963	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.62788	0.0;0.0	4.84	3.79	0.43588	Cadherin (1);Cadherin-like (2);	0.109291	0.64402	D	0.000014	T	0.76737	0.4029	M	0.85630	2.765	0.54753	D	0.999986	D	0.76494	0.999	D	0.85130	0.997	T	0.78021	-0.2367	9	.	.	.	.	6.1173	0.20134	0.1756:0.6572:0.0:0.1671	.	173	P55283	CADH4_HUMAN	M	173;81;99	ENSP00000353656:I173M;ENSP00000443301:I99M	.	I	+	3	3	CDH4	59781576	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.877000	0.28106	2.221000	0.72209	0.655000	0.94253	ATC		PASS	0.706	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		5	16	5	16	---	---	---	---
SLCO4A1	28231	broad.mit.edu	37	20	61291766	61291766	+	Missense_Mutation	SNP	C	C	T	rs373121417		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:61291766C>T	ENST00000370507.1	+	3	986	c.890C>T	c.(889-891)aCg>aTg	p.T297M	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.T297M|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	297					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T297M(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCCACAGGACGGAGCTGACC	0.687																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)ACG>ATG		solute carrier organic anion transporter family		C	MET/THR	0,4406		0,0,2203	34.0	35.0	34.0		890	1.5	0.7	20		34	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4A1	NM_016354.3	81	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	297/723	61291766	1,13001	2203	4298	6501	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61291766C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.890C>T	20.37:g.61291766C>T	ENSP00000359538:p.Thr297Met					SLCO4A1_uc002ydc.1_RNA	p.T297M	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		4	1095	+	Breast(26;3.65e-08)		297			Extracellular (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.890C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716148	0.30413	0.0	1.16E-4	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.39592	1.07;1.07	4.64	1.49	0.22878	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.89785	3.06	0.46901	D	0.999241	P	0.38020	0.615	B	0.40199	0.322	T	0.37641	-0.9697	10	0.46703	T	0.11	.	5.6709	0.17721	0.276:0.5726:0.0:0.1514	.	297	Q96BD0	SO4A1_HUMAN	M	297	ENSP00000217159:T297M;ENSP00000359538:T297M	ENSP00000217159:T297M	T	+	2	0	SLCO4A1	60762211	0.865000	0.29922	0.683000	0.30040	0.184000	0.23303	1.648000	0.37271	0.042000	0.15717	0.561000	0.74099	ACG		PASS	0.687	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		20	19	20	19	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833927	61833927	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:61833927G>A	ENST00000370339.3	-	4	1706	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.P405P	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	455	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.P455P(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CGTAGTCCACGGGGGACTTCA	0.567																																						uc002yeh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1363-1365)CCC>CCT		YTH domain family, member 1							80.0	81.0	81.0					20																	61833927		2203	4300	6503	SO:0001819	synonymous_variant	54915							g.chr20:61833927G>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1365C>T	20.37:g.61833927G>A						YTHDF1_uc011aaq.1_Silent_p.P405P	p.P455P	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN			4	1659	-			455			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	c.1365C>T	CCDS13511.1																																																																																				PASS	0.567	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		10	76	10	76	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62192207	62192207	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr20:62192207G>A	ENST00000467148.1	-	15	7291	c.7222C>T	c.(7222-7224)Cgg>Tgg	p.R2408W	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1839W	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2408	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R2408W(1)									AACAGAGACCGGTCCAGACCC	0.637																																						uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(7222-7224)CGG>TGG		PPAR-alpha interacting complex protein 285							99.0	109.0	106.0					20																	62192207		2203	4300	6503	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62192207G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7222C>T	20.37:g.62192207G>A	ENSP00000417401:p.Arg2408Trp					PRIC285_uc002yfl.1_Missense_Mutation_p.R1839W	p.R2408W	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		16	8114	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2408					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.7222C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080024	0.36662	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82167	-1.58;-1.58	4.15	1.85	0.25348	ATPase, AAA+ type, core (1);	0.527792	0.18096	N	0.151849	D	0.91389	0.7283	M	0.92507	3.315	0.09310	N	0.999996	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.944	T	0.82647	-0.0354	10	0.87932	D	0	-25.6369	9.3977	0.38412	0.0:0.0:0.3695:0.6305	.	2408;1839	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	W	1839;2408	ENSP00000393257:R1839W;ENSP00000417401:R2408W	ENSP00000393257:R1839W	R	-	1	2	RP4-697K14.7	61662651	0.720000	0.27996	0.569000	0.28460	0.158000	0.22134	4.742000	0.62103	0.692000	0.31613	0.491000	0.48974	CGG		PASS	0.637	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		9	63	9	63	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10933867	10933867	+	Missense_Mutation	SNP	A	A	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr21:10933867A>T	ENST00000361285.4	-	17	1341	c.1012T>A	c.(1012-1014)Tgt>Agt	p.C338S	TPTE_ENST00000298232.7_Missense_Mutation_p.C320S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.C300S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	338	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.C320S(1)|p.C338S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTCCTTTACAGTGAATCGCT	0.328																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1012-1014)TGT>AGT		transmembrane phosphatase with tensin homology							237.0	232.0	234.0					21																	10933867		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933867A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1012T>A	21.37:g.10933867A>T	ENSP00000355208:p.Cys338Ser					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.C320S|TPTE_uc002yir.1_Missense_Mutation_p.C300S|TPTE_uc010gkv.1_Missense_Mutation_p.C200S	p.C338S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1380	-			338			Phosphatase tensin-type.	Potential.	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1012T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.67	1.708514	0.30322	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99889	-7.55;-7.55;-7.55	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.99898	0.9951	H	0.96777	3.88	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.97103	0.9799	10	0.72032	D	0.01	-27.0231	8.0889	0.30788	1.0:0.0:0.0:0.0	.	300;320;338	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	320;338;300	ENSP00000298232:C320S;ENSP00000355208:C338S;ENSP00000344441:C300S	ENSP00000298232:C320S	C	-	1	0	TPTE	9955738	1.000000	0.71417	0.751000	0.31187	0.038000	0.13279	6.799000	0.75160	1.204000	0.43247	0.163000	0.16589	TGT		PASS	0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			33	164	33	164	---	---	---	---
KRTAP27-1	643812	broad.mit.edu	37	21	31709432	31709432	+	Silent	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr21:31709432G>T	ENST00000382835.2	-	1	580	c.555C>A	c.(553-555)ctC>ctA	p.L185L		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	185						intermediate filament (GO:0005882)		p.L185L(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AAGATTCCAGGAGTTGTGGCT	0.468																																						uc002ynx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(553-555)CTC>CTA		keratin associated protein 27-1							82.0	80.0	80.0					21																	31709432		2203	4300	6503	SO:0001819	synonymous_variant	643812					intermediate filament		g.chr21:31709432G>T	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.555C>A	21.37:g.31709432G>T							p.L185L	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	581	-			185						Silent	SNP	ENST00000382835.2	37	c.555C>A	CCDS33532.1																																																																																				PASS	0.468	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		20	31	20	31	---	---	---	---
KRTAP21-2	337978	broad.mit.edu	37	21	32119426	32119426	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr21:32119426C>A	ENST00000333892.2	-	1	125	c.95G>T	c.(94-96)gGa>gTa	p.G32V		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	32						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)	p.G32V(1)		lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agagccgtatccacagccata	0.532																																						uc011adh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)GGA>GTA		keratin associated protein 21-2							161.0	134.0	143.0					21																	32119426		2203	4300	6503	SO:0001583	missense	337978					intermediate filament		g.chr21:32119426C>A	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.95G>T	21.37:g.32119426C>A	ENSP00000334287:p.Gly32Val						p.G32V	NM_181617	NP_853648	Q3LI59	KR212_HUMAN			1	95	-			32						Missense_Mutation	SNP	ENST00000333892.2	37	c.95G>T	CCDS13605.1	.	.	.	.	.	.	.	.	.	.	C	7.610	0.674648	0.14841	.	.	ENSG00000187026	ENST00000333892	T	0.16457	2.34	4.35	3.46	0.39613	.	0.178947	0.26048	N	0.026651	T	0.33206	0.0855	.	.	.	0.09310	N	0.999998	D	0.63046	0.992	P	0.62740	0.906	T	0.06338	-1.0832	9	0.87932	D	0	.	8.5528	0.33462	0.0:0.8903:0.0:0.1097	.	32	Q3LI59	KR212_HUMAN	V	32	ENSP00000334287:G32V	ENSP00000334287:G32V	G	-	2	0	KRTAP21-2	31041297	0.013000	0.17824	0.054000	0.19295	0.036000	0.12997	1.818000	0.39012	0.974000	0.38366	0.555000	0.69702	GGA		PASS	0.532	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			17	26	17	26	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044451	33044451	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr21:33044451G>T	ENST00000286835.7	-	20	3087	c.2705C>A	c.(2704-2706)cCt>cAt	p.P902H	SCAF4_ENST00000399804.1_Missense_Mutation_p.P880H|SCAF4_ENST00000434667.3_Missense_Mutation_p.P887H	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	902						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P902H(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATTCCATGAGGTGGAGGCAT	0.652																																						uc002ypd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2704-2706)CCT>CAT		splicing factor, arginine/serine-rich 15 isoform							59.0	55.0	56.0					21																	33044451		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044451G>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2705C>A	21.37:g.33044451G>T	ENSP00000286835:p.Pro902His					SFRS15_uc002ype.2_Missense_Mutation_p.P880H|SFRS15_uc010glu.2_Missense_Mutation_p.P887H	p.P902H	NM_020706	NP_065757	O95104	SFR15_HUMAN			20	3131	-			902					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2705C>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616900	0.46736	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.79653	0.59;0.52;-1.29	5.24	5.24	0.73138	.	0.180756	0.37623	N	0.002003	D	0.82903	0.5138	L	0.29908	0.895	0.58432	D	0.999991	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.65874	0.87;0.939;0.87	D	0.84366	0.0541	10	0.72032	D	0.01	-14.6159	14.313	0.66429	0.0732:0.0:0.9268:0.0	.	887;880;902	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	H	887;902;880	ENSP00000402377:P887H;ENSP00000286835:P902H;ENSP00000382703:P880H	ENSP00000286835:P902H	P	-	2	0	SCAF4	31966322	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.576000	0.90770	2.729000	0.93468	0.555000	0.69702	CCT		PASS	0.652	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		14	25	14	25	---	---	---	---
KRTAP12-3	386683	broad.mit.edu	37	21	46078055	46078055	+	Silent	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr21:46078055C>A	ENST00000397907.1	+	1	207	c.159C>A	c.(157-159)tcC>tcA	p.S53S	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	53	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.S53S(1)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGCCCTCCGTGTGCGTGC	0.652																																						uc002zft.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(157-159)TCC>TCA		keratin associated protein 12-3							91.0	103.0	99.0					21																	46078055		2182	4269	6451	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46078055C>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.159C>A	21.37:g.46078055C>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S53S	NM_198697	NP_941970	P60328	KR123_HUMAN			1	207	+			53			7.|14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.159C>A	CCDS42964.1																																																																																				PASS	0.652	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			21	48	21	48	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19384447	19384447	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr22:19384447G>A	ENST00000263208.5	-	7	773	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	HIRA_ENST00000541063.1_Missense_Mutation_p.H129Y|HIRA_ENST00000546308.1_Missense_Mutation_p.H129Y|HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000340170.4_Missense_Mutation_p.H173Y	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	173					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H173Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAGCCAGAATGACCTCTCAGA	0.488																																						uc002zpf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(517-519)CAT>TAT		HIR histone cell cycle regulation defective							75.0	72.0	73.0					22																	19384447		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19384447G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.517C>T	22.37:g.19384447G>A	ENSP00000263208:p.His173Tyr					HIRA_uc011agx.1_Missense_Mutation_p.H39Y|HIRA_uc010grn.1_Missense_Mutation_p.H173Y|HIRA_uc010gro.1_Missense_Mutation_p.H129Y|HIRA_uc010grp.2_RNA	p.H173Y	NM_003325	NP_003316	P54198	HIRA_HUMAN			7	737	-	Colorectal(54;0.0993)		173			WD 4.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.517C>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143384	0.94560	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.97110	0.999;0.979;1.0	D	0.94819	0.7985	10	0.72032	D	0.01	-11.3689	19.3562	0.94414	0.0:0.0:1.0:0.0	.	129;173;173	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	Y	173;173;129;129	ENSP00000345350:H173Y;ENSP00000263208:H173Y;ENSP00000446073:H129Y;ENSP00000441870:H129Y	ENSP00000263208:H173Y	H	-	1	0	HIRA	17764447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.000000	0.93564	2.804000	0.96469	0.655000	0.94253	CAT		PASS	0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		11	51	11	51	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19502550	19502550	+	Silent	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr22:19502550G>C	ENST00000407835.1	+	16	1675	c.1419G>C	c.(1417-1419)ctG>ctC	p.L473L	CDC45_ENST00000263201.1_Silent_p.L473L|CDC45_ENST00000404724.3_Silent_p.L427L|CDC45_ENST00000437685.2_Silent_p.L505L			O75419	CDC45_HUMAN	cell division cycle 45	473					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L473L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GCAAACACCTGCTCAAGTCCT	0.607																																						uc002zpr.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1417-1419)CTG>CTC		CDC45-like							78.0	70.0	72.0					22																	19502550		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19502550G>C	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1419G>C	22.37:g.19502550G>C						CDC45_uc011agz.1_3'UTR|CDC45_uc011aha.1_Silent_p.L505L|CDC45_uc002zps.2_Silent_p.L473L|CDC45_uc002zpt.2_Silent_p.L427L	p.L473L	NM_003504	NP_003495	O75419	CDC45_HUMAN			15	1495	+			473					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1419G>C	CCDS13762.1																																																																																				PASS	0.607	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		8	22	8	22	---	---	---	---
ZNF74	7625	broad.mit.edu	37	22	20760522	20760522	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr22:20760522A>G	ENST00000400451.2	+	5	1713	c.1199A>G	c.(1198-1200)cAc>cGc	p.H400R	ZNF74_ENST00000405993.1_Missense_Mutation_p.H368R|ZNF74_ENST00000356671.5_Missense_Mutation_p.H400R|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	400					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H400R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCACCTGCCACTCATCCCTC	0.632																																						uc010gsm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1198-1200)CAC>CGC		zinc finger protein 74							44.0	58.0	53.0					22																	20760522		2202	4300	6502	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760522A>G	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1199A>G	22.37:g.20760522A>G	ENSP00000383301:p.His400Arg					ZNF74_uc002zsg.2_Missense_Mutation_p.H329R|ZNF74_uc002zsh.2_Missense_Mutation_p.H400R|ZNF74_uc002zsi.2_Missense_Mutation_p.H329R|ZNF74_uc010gsn.2_Missense_Mutation_p.H329R	p.H400R	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1411	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	400			C2H2-type 6.		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1199A>G	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	A	6.640	0.486614	0.12641	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.07114	3.22;3.22;3.22	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41001	D	0.000971	T	0.01835	0.0058	N	0.00395	-1.55	0.23232	N	0.998073	B	0.30281	0.275	B	0.20767	0.031	T	0.37596	-0.9699	10	0.33141	T	0.24	-31.3817	6.175	0.20439	0.8883:0.0:0.1117:0.0	.	400	Q16587	ZNF74_HUMAN	R	400;400;368	ENSP00000383301:H400R;ENSP00000349098:H400R;ENSP00000385855:H368R	ENSP00000349098:H400R	H	+	2	0	ZNF74	19090522	0.000000	0.05858	1.000000	0.80357	0.967000	0.64934	0.022000	0.13511	2.026000	0.59711	0.533000	0.62120	CAC		PASS	0.632	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		9	39	9	39	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438181	23438181	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr22:23438181G>T	ENST00000248996.4	+	2	965	c.299G>T	c.(298-300)cGc>cTc	p.R100L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	100					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	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)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)	p.R100L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AACCCCGACCGCGCCTACGAC	0.647																																						uc002zwu.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(298-300)CGC>CTC		guanine nucleotide binding protein, alpha z							96.0	104.0	101.0					22																	23438181		2203	4299	6502	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438181G>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.299G>T	22.37:g.23438181G>T	ENSP00000248996:p.Arg100Leu					RTDR1_uc002zwt.2_Intron	p.R100L	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	836	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		100					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.299G>T	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423697	0.43020	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.87729	-2.29	4.85	3.83	0.44106	G protein alpha subunit, helical insertion (2);	0.053162	0.64402	D	0.000001	T	0.79009	0.4374	N	0.25286	0.73	0.58432	D	0.999996	B	0.12013	0.005	B	0.10450	0.005	T	0.74907	-0.3504	10	0.56958	D	0.05	.	12.4702	0.55783	0.0815:0.0:0.9185:0.0	.	100	P19086	GNAZ_HUMAN	L	100;48	ENSP00000248996:R100L	ENSP00000248996:R100L	R	+	2	0	GNAZ	21768181	1.000000	0.71417	0.972000	0.41901	0.211000	0.24417	7.345000	0.79337	1.200000	0.43188	-0.136000	0.14681	CGC		PASS	0.647	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		41	121	41	121	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422991	26422991	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr22:26422991T>A	ENST00000407587.2	+	43	7223	c.7054T>A	c.(7054-7056)Tgc>Agc	p.C2352S	MYO18B_ENST00000536101.1_Missense_Mutation_p.C2351S|MYO18B_ENST00000335473.7_Missense_Mutation_p.C2351S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2351						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.C2352S(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATTCAGTTCCTGCGAGTCCCT	0.562																																						uc003abz.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7051-7053)TGC>AGC		myosin XVIIIB							78.0	86.0	84.0					22																	26422991		1935	4137	6072	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422991T>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7054T>A	22.37:g.26422991T>A	ENSP00000386096:p.Cys2352Ser					MYO18B_uc003aca.1_Missense_Mutation_p.C2232S|MYO18B_uc010guy.1_Missense_Mutation_p.C2233S|MYO18B_uc010guz.1_Missense_Mutation_p.C2231S|MYO18B_uc011aka.1_Missense_Mutation_p.C1505S|MYO18B_uc011akb.1_Missense_Mutation_p.C1864S|MYO18B_uc010gva.1_Missense_Mutation_p.C334S|MYO18B_uc010gvb.1_RNA	p.C2351S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7301	+			2351					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7051T>A		.	.	.	.	.	.	.	.	.	.	T	18.22	3.575845	0.65878	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88201	-2.33;-2.33;-2.35	4.89	4.89	0.63831	.	0.186759	0.31347	N	0.007810	D	0.92041	0.7478	L	0.52364	1.645	0.37257	D	0.906798	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.994;0.994;0.997;0.997	D	0.93121	0.6525	10	0.45353	T	0.12	.	13.3206	0.60430	0.0:0.0:0.0:1.0	.	1864;2353;2351;2352;2351	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	S	2351;2351;2352	ENSP00000441229:C2351S;ENSP00000334563:C2351S;ENSP00000386096:C2352S	ENSP00000334563:C2351S	C	+	1	0	MYO18B	24752991	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.847000	0.55895	1.821000	0.53095	0.379000	0.24179	TGC		PASS	0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		16	65	16	65	---	---	---	---
C1QTNF6	114904	broad.mit.edu	37	22	37581315	37581315	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr22:37581315C>A	ENST00000337843.2	-	2	307	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.G78C|C1QTNF6_ENST00000255836.6_5'Flank|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	59	Collagen-like.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.G78C(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGGGGCGGCCGGAGGAAGAG	0.632																																						uc003aqw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GGC>TGC		C1q and tumor necrosis factor related protein 6							38.0	40.0	39.0					22																	37581315		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37581315C>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.232G>T	22.37:g.37581315C>A	ENSP00000338812:p.Gly78Cys					C1QTNF6_uc003aqx.1_Missense_Mutation_p.G78C|C1QTNF6_uc003aqy.1_Missense_Mutation_p.G78C|C1QTNF6_uc003aqz.1_RNA	p.G59C	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			1	680	-			59					Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.175G>T	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292393	0.10567	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.38077	1.16;1.16	4.05	-2.32	0.06745	.	1.059190	0.07461	N	0.900735	T	0.36413	0.0966	L	0.36672	1.1	0.09310	N	1	D;D	0.56287	0.975;0.958	P;P	0.59825	0.864;0.734	T	0.24941	-1.0146	10	0.49607	T	0.09	.	0.377	0.00389	0.2543:0.2463:0.1405:0.3588	.	78;59	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	C	78	ENSP00000380299:G78C;ENSP00000338812:G78C	ENSP00000338812:G78C	G	-	1	0	C1QTNF6	35911261	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.498000	0.02287	-0.425000	0.07371	-0.541000	0.04245	GGC		PASS	0.632	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		13	17	13	17	---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077845	41077845	+	Silent	SNP	G	G	T	rs139064474		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr22:41077845G>T	ENST00000249016.4	+	2	1878	c.1182G>T	c.(1180-1182)tcG>tcT	p.S394S	MCHR1_ENST00000381433.2_Silent_p.S268S|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	394					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.S394S(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TGGTCCTGTCGGTGAAGCCTG	0.582																																						uc003ayz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1180-1182)TCG>TCT		G protein-coupled receptor 24							90.0	75.0	80.0					22																	41077845		2203	4300	6503	SO:0001819	synonymous_variant	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077845G>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.1182G>T	22.37:g.41077845G>T						MCHR1_uc003aza.2_Silent_p.S283S|uc003azb.1_RNA	p.S394S	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	1450	+			394			Cytoplasmic (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.1182G>T	CCDS14004.1																																																																																				PASS	0.582	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		33	50	33	50	---	---	---	---
FAM9B	171483	broad.mit.edu	37	X	8998330	8998330	+	Missense_Mutation	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:8998330G>A	ENST00000327220.5	-	5	617	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	FAM9B_ENST00000428477.1_Missense_Mutation_p.H85Y|FAM9B_ENST00000362066.3_Intron			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	85						nucleus (GO:0005634)		p.H85Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTCAAAGCATGTTTACTTTTG	0.279																																						uc011mhu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)CAT>TAT		family with sequence similarity 9, member B							221.0	174.0	190.0					X																	8998330		2196	4293	6489	SO:0001583	missense	171483					nucleus		g.chrX:8998330G>A		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.253C>T	X.37:g.8998330G>A	ENSP00000318716:p.His85Tyr					FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Intron	p.H85Y	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN			4	342	-		Hepatocellular(5;0.219)	85					Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	c.253C>T	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.402112	0.01165	.	.	ENSG00000177138	ENST00000327220;ENST00000428477	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	T	0.25382	0.0617	L	0.54323	1.7	0.09310	N	1	B	0.30482	0.281	B	0.23852	0.049	T	0.23868	-1.0176	7	0.62326	D	0.03	.	.	.	.	.	85	Q8IZU0	FAM9B_HUMAN	Y	85	.	ENSP00000318716:H85Y	H	-	1	0	FAM9B	8958330	0.918000	0.31147	0.010000	0.14722	0.009000	0.06853	-0.025000	0.12413	-2.362000	0.00609	-2.407000	0.00222	CAT		PASS	0.279	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		4	5	4	5	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018431	23018431	+	Missense_Mutation	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:23018431A>G	ENST00000327968.5	+	1	345	c.257A>G	c.(256-258)aAc>aGc	p.N86S	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	86	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.N86S(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAGATCATAAACGGGGAATCT	0.338																																						uc004daj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(256-258)AAC>AGC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							70.0	75.0	73.0					X																	23018431		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018431A>G	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.257A>G	X.37:g.23018431A>G	ENSP00000368667:p.Asn86Ser						p.N86S	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	345	+			86			KH.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.257A>G	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	A	8.718	0.913647	0.17907	.	.	ENSG00000184735	ENST00000327968	T	0.39787	1.06	4.3	-0.652	0.11450	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	1.130710	0.06768	N	0.782962	T	0.21509	0.0518	N	0.04335	-0.225	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.28332	-1.0047	10	0.66056	D	0.02	0.9714	7.0802	0.25227	0.517:0.0:0.483:0.0	.	86	Q86TM3	DDX53_HUMAN	S	86	ENSP00000368667:N86S	ENSP00000368667:N86S	N	+	2	0	DDX53	22928352	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.005000	0.13129	-0.082000	0.12640	-0.323000	0.08544	AAC		PASS	0.338	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		7	16	7	16	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31462722	31462722	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:31462722G>T	ENST00000357033.4	-	60	9166	c.8960C>A	c.(8959-8961)cCt>cAt	p.P2987H	DMD_ENST00000541735.1_Missense_Mutation_p.P527H|DMD_ENST00000359836.1_Missense_Mutation_p.P527H|DMD_ENST00000378707.3_Missense_Mutation_p.P527H|DMD_ENST00000343523.2_Missense_Mutation_p.P527H|DMD_ENST00000378677.2_Missense_Mutation_p.P2983H|DMD_ENST00000474231.1_Missense_Mutation_p.P527H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2987					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.P2983H(1)|p.P1646H(1)|p.P527H(1)|p.P2987H(1)|p.P2982H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTTTCAGAGGCGCAATTTC	0.458																																						uc004dda.1																			5	Substitution - Missense(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8959-8961)CCT>CAT		dystrophin Dp427m isoform							144.0	109.0	121.0					X																	31462722		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31462722G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8960C>A	X.37:g.31462722G>T	ENSP00000354923:p.Pro2987His					DMD_uc004dcq.1_Missense_Mutation_p.P258H|DMD_uc004dcr.1_Missense_Mutation_p.P527H|DMD_uc004dcs.1_Missense_Mutation_p.P527H|DMD_uc004dct.1_Missense_Mutation_p.P527H|DMD_uc004dcu.1_Missense_Mutation_p.P527H|DMD_uc004dcv.1_Missense_Mutation_p.P527H|DMD_uc004dcw.2_Missense_Mutation_p.P1643H|DMD_uc004dcx.2_Missense_Mutation_p.P1646H|DMD_uc004dcz.2_Missense_Mutation_p.P2864H|DMD_uc004dcy.1_Missense_Mutation_p.P2983H|DMD_uc004ddb.1_Missense_Mutation_p.P2979H	p.P2987H	NM_004006	NP_003997	P11532	DMD_HUMAN			60	9204	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2987			Spectrin 22.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8960C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731210	0.69189	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.64	5.64	0.86602	.	0.000000	0.33712	U	0.004621	T	0.69178	0.3082	M	0.72894	2.215	0.47276	D	0.999374	P;D;D;D;D;D;D;D;D;D;D	0.89917	0.862;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D	0.85130	0.53;0.979;0.944;0.993;0.995;0.993;0.997;0.996;0.979;0.964;0.987	T	0.72472	-0.4283	10	0.87932	D	0	.	17.3455	0.87308	0.0:0.0:1.0:0.0	.	2979;2987;2983;1646;1643;527;527;527;527;527;2864	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	H	2979;1646;1643;683;2983;2987;527;527;2987;2864;527;527;527	ENSP00000350765:P683H;ENSP00000367948:P2983H;ENSP00000354923:P2987H;ENSP00000352894:P527H;ENSP00000340057:P527H;ENSP00000367979:P527H;ENSP00000444119:P527H;ENSP00000417123:P527H	ENSP00000340057:P527H	P	-	2	0	DMD	31372643	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.609000	0.74173	2.364000	0.80123	0.594000	0.82650	CCT		PASS	0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		38	19	38	19	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32408279	32408279	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:32408279G>C	ENST00000357033.4	-	31	4459	c.4253C>G	c.(4252-4254)aCa>aGa	p.T1418R	DMD_ENST00000378677.2_Missense_Mutation_p.T1414R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1418	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T1414R(1)|p.T77R(1)|p.T1418R(1)|p.T1413R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCATGACTTGTCAAATCAGA	0.388																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4252-4254)ACA>AGA		dystrophin Dp427m isoform							133.0	106.0	115.0					X																	32408279		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32408279G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4253C>G	X.37:g.32408279G>C	ENSP00000354923:p.Thr1418Arg					DMD_uc004dcw.2_Missense_Mutation_p.T74R|DMD_uc004dcx.2_Missense_Mutation_p.T77R|DMD_uc004dcz.2_Missense_Mutation_p.T1295R|DMD_uc004dcy.1_Missense_Mutation_p.T1414R|DMD_uc004ddb.1_Missense_Mutation_p.T1410R|DMD_uc010ngo.1_Intron	p.T1418R	NM_004006	NP_003997	P11532	DMD_HUMAN			31	4497	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1418			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4253C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760545	0.49468	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.20881	2.04;2.04	5.77	5.77	0.91146	.	0.000000	0.38058	U	0.001840	T	0.25531	0.0621	L	0.44542	1.39	0.80722	D	1	D;B;P;P;P	0.53151	0.958;0.346;0.93;0.838;0.838	P;B;P;B;B	0.51229	0.663;0.077;0.462;0.367;0.367	T	0.01553	-1.1326	10	0.16896	T	0.51	.	12.5325	0.56124	0.0781:0.0:0.9219:0.0	.	1410;1418;1414;77;74	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	R	1410;77;74;1414;1418;1418;1295	ENSP00000367948:T1414R;ENSP00000354923:T1418R	ENSP00000354923:T1418R	T	-	2	0	DMD	32318200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.241000	0.51376	2.557000	0.86248	0.594000	0.82650	ACA		PASS	0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		35	15	35	15	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41010252	41010252	+	Missense_Mutation	SNP	G	G	C			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:41010252G>C	ENST00000324545.8	+	13	2338	c.1705G>C	c.(1705-1707)Gca>Cca	p.A569P	USP9X_ENST00000378308.2_Missense_Mutation_p.A569P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	569					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A569P(1)|p.A562P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGTTATTCCCGCACTGAAACA	0.318																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(1705-1707)GCA>CCA		ubiquitin specific protease 9, X-linked isoform							48.0	44.0	45.0					X																	41010252		2150	4266	6416	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41010252G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1705G>C	X.37:g.41010252G>C	ENSP00000316357:p.Ala569Pro					USP9X_uc004dfc.2_Missense_Mutation_p.A569P	p.A569P	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			13	2338	+			569					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1705G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822882	0.90873	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04083	3.71;3.71	5.19	5.19	0.71726	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.02821	-1.1106	10	0.72032	D	0.01	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	569;569	Q93008-1;Q93008	.;USP9X_HUMAN	P	569	ENSP00000367558:A569P;ENSP00000316357:A569P	ENSP00000316357:A569P	A	+	1	0	USP9X	40895196	1.000000	0.71417	0.968000	0.41197	0.956000	0.61745	9.357000	0.97099	2.151000	0.67156	0.468000	0.43344	GCA		PASS	0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	7	5	7	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50119073	50119073	+	RNA	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:50119073C>G	ENST00000376025.2	-	0	3422							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.G890R(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTGTCTTGGCCGTAAAATATA	0.433																																						uc010njr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(3364-3366)GGC>CGC		diacylglycerol kinase kappa							65.0	59.0	61.0					X																	50119073		1999	4157	6156			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119073C>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119073C>G							p.G1122R	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			25	3424	-	Ovarian(276;0.236)		1122					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.3364G>C																																																																																					PASS	0.433	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		7	6	7	6	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53674517	53674517	+	Splice_Site	SNP	A	A	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:53674517A>G	ENST00000342160.3	-	5	602	c.145T>C	c.(145-147)Tgc>Cgc	p.C49R	HUWE1_ENST00000262854.6_Splice_Site_p.C49R|HUWE1_ENST00000218328.8_Splice_Site_p.C49R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	49					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.C49R(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATAACTCGCACTGGAGAGGG	0.483																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(145-147)TGC>CGC		HECT, UBA and WWE domain containing 1							130.0	119.0	123.0					X																	53674517		2203	4300	6503	SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53674517A>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.145-1T>C	X.37:g.53674517A>G							p.C49R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			6	547	-			49					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.145T>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572389	0.86542	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.46063	1.18;1.18;0.88	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.66084	0.941	T	0.64997	-0.6275	10	0.87932	D	0	.	13.5764	0.61877	1.0:0.0:0.0:0.0	.	49	Q7Z6Z7	HUWE1_HUMAN	R	49	ENSP00000340648:C49R;ENSP00000262854:C49R;ENSP00000218328:C49R	ENSP00000218328:C49R	C	-	1	0	HUWE1	53691242	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	8.863000	0.92288	1.849000	0.53698	0.486000	0.48141	TGC		PASS	0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Missense_Mutation	26	35	26	35	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54785033	54785033	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:54785033C>A	ENST00000218436.6	-	8	1503	c.1474G>T	c.(1474-1476)Gcc>Tcc	p.A492S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	492					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A492S(1)									GGGAAAACGGCCCAAGGGGAG	0.622																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1474-1476)GCC>TCC		inter-alpha (globulin) inhibitor H5-like							40.0	36.0	37.0					X																	54785033		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785033C>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1474G>T	X.37:g.54785033C>A	ENSP00000218436:p.Ala492Ser						p.A492S	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	1504	-			492					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1474G>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.277083	0.01410	.	.	ENSG00000102313	ENST00000218436	T	0.11063	2.81	3.66	0.75	0.18387	.	0.748249	0.12278	U	0.483185	T	0.03520	0.0101	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.46219	-0.9207	10	0.07175	T	0.84	.	6.1525	0.20320	0.0:0.4237:0.0:0.5763	.	492	Q6UXX5	ITH5L_HUMAN	S	492	ENSP00000218436:A492S	ENSP00000218436:A492S	A	-	1	0	ITIH5L	54801758	0.002000	0.14202	0.016000	0.15963	0.002000	0.02628	0.611000	0.24268	0.389000	0.25086	-0.195000	0.12781	GCC		PASS	0.622	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		5	8	5	8	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54957141	54957141	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:54957141C>A	ENST00000173898.7	+	12	4096	c.3984C>A	c.(3982-3984)gaC>gaA	p.D1328E	TRO_ENST00000375041.2_Missense_Mutation_p.D931E|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.D859E|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1328	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1328E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCAGCTTCGACAGAGGACTGA	0.567																																						uc004dtq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3982-3984)GAC>GAA		trophinin isoform 5							79.0	76.0	77.0					X																	54957141		2077	4175	6252	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957141C>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3984C>A	X.37:g.54957141C>A	ENSP00000173898:p.Asp1328Glu					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D859E|TRO_uc004dtw.2_Missense_Mutation_p.D931E|TRO_uc004dtx.2_Missense_Mutation_p.D711E	p.D1328E	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	4091	+			1328			52; approximate.|62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.3984C>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949967	0.34377	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.09163	4.12;3.01;3.76	3.23	-1.0	0.10196	.	.	.	.	.	T	0.10895	0.0266	N	0.14661	0.345	0.09310	N	1	D;D	0.60160	0.987;0.977	P;P	0.56088	0.719;0.791	T	0.27806	-1.0063	9	0.72032	D	0.01	.	7.3811	0.26856	0.0:0.6582:0.0:0.3418	.	931;1328	B1AKE9;Q12816	.;TROP_HUMAN	E	1328;859;931	ENSP00000173898:D1328E;ENSP00000405126:D859E;ENSP00000364181:D931E	ENSP00000173898:D1328E	D	+	3	2	TRO	54973866	0.000000	0.05858	0.018000	0.16275	0.507000	0.33981	-1.696000	0.01912	-0.532000	0.06332	0.553000	0.69018	GAC		PASS	0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		18	15	18	15	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63412889	63412889	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:63412889C>A	ENST00000330258.3	-	2	550	c.278G>T	c.(277-279)aGc>aTc	p.S93I	AMER1_ENST00000403336.1_Missense_Mutation_p.S93I|AMER1_ENST00000374869.3_Missense_Mutation_p.S93I	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	93					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.S93I(2)									GTGGGTCTTGCTCTTGCTGAG	0.537																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(277-279)AGC>ATC		family with sequence similarity 123B							126.0	92.0	104.0					X																	63412889		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412889C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.278G>T	X.37:g.63412889C>A	ENSP00000329117:p.Ser93Ile						p.S93I	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	551	-			93					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.278G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053840	0.75960	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.35421	1.31;1.31;1.31	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	M	0.73962	2.25	0.47511	D	0.999442	D	0.89917	1.0	D	0.97110	1.0	T	0.65380	-0.6182	10	0.87932	D	0	-11.7193	15.8344	0.78787	0.0:1.0:0.0:0.0	.	93	Q5JTC6	F123B_HUMAN	I	93	ENSP00000364003:S93I;ENSP00000329117:S93I;ENSP00000384722:S93I	ENSP00000329117:S93I	S	-	2	0	FAM123B	63329614	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.480000	0.66820	2.527000	0.85204	0.600000	0.82982	AGC		PASS	0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		19	27	19	27	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	G			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:70349258C>G	ENST00000374080.3	+	26	3702	c.3670C>G	c.(3670-3672)Ctc>Gtc	p.L1224V	MED12_ENST00000333646.6_Missense_Mutation_p.L1224V|MED12_ENST00000374102.1_Missense_Mutation_p.L1224V			Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					14	Substitution - Missense(12)|Complex(2)		prostate(12)|lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3670-3672)CTC>GTC		mediator complex subunit 12							49.0	51.0	51.0					X																	70349258		2086	4189	6275	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349258C>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3670C>G	X.37:g.70349258C>G	ENSP00000363193:p.Leu1224Val		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_uc011mpq.1_Missense_Mutation_p.L1224V|MED12_uc004dyz.2_Missense_Mutation_p.L1224V|MED12_uc004dza.2_Missense_Mutation_p.L1071V|MED12_uc010nla.2_5'Flank	p.L1224V	NM_005120	NP_005111	Q93074	MED12_HUMAN			26	3869	+	Renal(35;0.156)		1224					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3670C>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.71	3.682219	0.68042	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.56543	0.1992	M	0.72353	2.195	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.81914	0.995;0.988;0.995;0.985	T	0.60515	-0.7248	10	0.87932	D	0	-17.5145	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1224;1071;1224;1224	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	1224;1224;1224;1224;1192	ENSP00000333125:L1224V;ENSP00000363215:L1224V;ENSP00000363193:L1224V;ENSP00000414203:L1192V	ENSP00000333125:L1224V	L	+	1	0	MED12	70265983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.474000	0.53129	2.509000	0.84616	0.529000	0.55759	CTC		PASS	0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		6	11	6	11	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71825207	71825207	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:71825207C>A	ENST00000373542.4	-	25	2888	c.2729G>T	c.(2728-2730)gGc>gTc	p.G910V	PHKA1_ENST00000373539.3_Missense_Mutation_p.G910V|PHKA1_ENST00000373545.3_Missense_Mutation_p.G851V|PHKA1_ENST00000339490.3_Missense_Mutation_p.G910V|PHKA1_ENST00000541944.1_Missense_Mutation_p.G851V	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	910					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)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.G910V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGCAAAGAGGCCAGGCTGGGT	0.423																																						uc004eax.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2728-2730)GGC>GTC		phosphorylase kinase, alpha 1 (muscle) isoform							99.0	81.0	87.0					X																	71825207		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71825207C>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2729G>T	X.37:g.71825207C>A	ENSP00000362643:p.Gly910Val					PHKA1_uc004eay.3_Missense_Mutation_p.G910V|PHKA1_uc011mqi.1_Missense_Mutation_p.G851V	p.G910V	NM_002637	NP_002628	P46020	KPB1_HUMAN			25	3030	-	Renal(35;0.156)		910					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2729G>T	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090817	0.36855	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.8	4.89	0.63831	Glycoside hydrolase 15-related (1);	0.283183	0.44902	D	0.000404	T	0.77644	0.4161	N	0.08118	0	0.42198	D	0.99175	B;B;B	0.29212	0.237;0.003;0.007	B;B;B	0.30943	0.122;0.005;0.009	T	0.76168	-0.3058	10	0.37606	T	0.19	-18.7352	11.3362	0.49505	0.0:0.6956:0.3044:0.0	.	851;910;910	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	V	851;910;851;910;910	ENSP00000362646:G851V;ENSP00000362643:G910V;ENSP00000441251:G851V;ENSP00000342469:G910V;ENSP00000362640:G910V	ENSP00000342469:G910V	G	-	2	0	PHKA1	71741932	0.014000	0.17966	1.000000	0.80357	0.996000	0.88848	0.387000	0.20718	2.450000	0.82876	0.594000	0.82650	GGC		PASS	0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			14	16	14	16	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73065916	73065916	+	lincRNA	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:73065916T>A	ENST00000429829.1	-	0	6672					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGGCACTCCCTGCCGGAAGGG	0.512																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							179.0	162.0	167.0					X																	73065916		876	1991	2867			7503							g.chrX:73065916T>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065916T>A								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.6673A>T																																																																																					PASS	0.512	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		22	22	22	22	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83723923	83723923	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:83723923C>A	ENST00000297977.5	-	3	919	c.808G>T	c.(808-810)Gtt>Ttt	p.V270F	HDX_ENST00000373177.2_Missense_Mutation_p.V270F|HDX_ENST00000506585.2_Missense_Mutation_p.V212F	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	270						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V270F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TAATCGCTAACTGCCAATGAA	0.453																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(808-810)GTT>TTT		highly divergent homeobox							93.0	89.0	90.0					X																	83723923		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723923C>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.808G>T	X.37:g.83723923C>A	ENSP00000297977:p.Val270Phe					HDX_uc011mqv.1_Missense_Mutation_p.V270F|HDX_uc004eel.1_Missense_Mutation_p.V212F	p.V270F	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	917	-			270					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.808G>T	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772276	0.69992	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35236	1.35;1.32;1.35	5.45	5.45	0.79879	.	0.319813	0.29185	N	0.012900	T	0.59797	0.2220	M	0.63843	1.955	0.45318	D	0.998313	D	0.76494	0.999	D	0.80764	0.994	T	0.62407	-0.6861	10	0.87932	D	0	-25.6634	18.5662	0.91118	0.0:1.0:0.0:0.0	.	270	Q7Z353	HDX_HUMAN	F	270;212;270	ENSP00000297977:V270F;ENSP00000362272:V212F;ENSP00000423670:V270F	ENSP00000297977:V270F	V	-	1	0	HDX	83610579	0.998000	0.40836	0.999000	0.59377	0.974000	0.67602	3.312000	0.51927	2.415000	0.81967	0.513000	0.50165	GTT		PASS	0.453	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		26	40	26	40	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84510709	84510709	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:84510709C>A	ENST00000373165.3	+	4	830	c.524C>A	c.(523-525)gCa>gAa	p.A175E	ZNF711_ENST00000542798.1_5'Flank|ZNF711_ENST00000276123.3_Missense_Mutation_p.A175E|ZNF711_ENST00000360700.4_Missense_Mutation_p.A175E|ZNF711_ENST00000395402.1_Missense_Mutation_p.A153E	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	175					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.A175E(1)|p.A155E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGATTCAAGCAGCTGGAGGT	0.403																																						uc004eeo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(523-525)GCA>GAA		zinc finger protein 711							80.0	76.0	77.0					X																	84510709		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84510709C>A	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.524C>A	X.37:g.84510709C>A	ENSP00000362260:p.Ala175Glu					ZNF711_uc004eep.2_Missense_Mutation_p.A175E|ZNF711_uc004eeq.2_Missense_Mutation_p.A175E	p.A175E	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			4	871	+			175					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.524C>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457331	0.84317	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.16	5.16	0.70880	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.43260	D	0.000581	T	0.68146	0.2969	M	0.69823	2.125	0.80722	D	1	B;D	0.63046	0.277;0.992	B;P	0.58172	0.092;0.834	T	0.70085	-0.4969	10	0.45353	T	0.12	-9.9285	17.8544	0.88758	0.0:1.0:0.0:0.0	.	175;175	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	E	153;175;175;175	ENSP00000378798:A153E;ENSP00000362260:A175E;ENSP00000276123:A175E;ENSP00000353922:A175E	ENSP00000276123:A175E	A	+	2	0	ZNF711	84397365	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.760000	0.47581	2.147000	0.66899	0.550000	0.68814	GCA		PASS	0.403	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		19	30	19	30	---	---	---	---
BTK	695	broad.mit.edu	37	X	100611048	100611048	+	Silent	SNP	G	G	T	rs128621201		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:100611048G>T	ENST00000308731.7	-	15	1721	c.1558C>A	c.(1558-1560)Cga>Aga	p.R520R	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	520	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue). {ECO:0000269|PubMed:7633429, ECO:0000269|PubMed:7809124, ECO:0000269|PubMed:7849697, ECO:0000269|PubMed:7880320}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.R520R(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCAGGTCTCGGTGAAGGAAC	0.537									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CM030803|CM940198	BTK	M	rs128621201	c.(1558-1560)CGA>AGA		Bruton agammaglobulinemia tyrosine kinase							144.0	121.0	129.0					X																	100611048		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611048G>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1558C>A	X.37:g.100611048G>T						BTK_uc004ehf.2_Silent_p.R20R|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.R90R|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Silent_p.R554R|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Silent_p.R520R	p.R520R	NM_000061	NP_000052	Q06187	BTK_HUMAN			15	1751	-			520		R -> Q (in XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue).	Protein kinase.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.1558C>A	CCDS14482.1																																																																																				PASS	0.537	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		41	33	41	33	---	---	---	---
HNRNPH2	3188	broad.mit.edu	37	X	100667656	100667656	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:100667656G>T	ENST00000316594.5	+	2	758	c.680G>T	c.(679-681)gGg>gTg	p.G227V		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	227					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G227V(1)		breast(3)|large_intestine(2)|lung(6)|skin(1)	12						AGAGGAGCTGGGTTTGAAAGG	0.522																																						uc004ehm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GGG>GTG		heterogeneous nuclear ribonucleoprotein H2							76.0	66.0	70.0					X																	100667656		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667656G>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.680G>T	X.37:g.100667656G>T	ENSP00000361927:p.Gly227Val					HNRNPH2_uc004ehn.2_Missense_Mutation_p.G227V	p.G227V	NM_019597	NP_062543	P55795	HNRH2_HUMAN			2	850	+			227					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.680G>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219518	0.39201	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.12672	2.66	4.76	4.76	0.60689	.	0.110624	0.64402	D	0.000008	T	0.34135	0.0887	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	T	0.05937	-1.0855	10	0.72032	D	0.01	-10.4318	14.3159	0.66450	0.0:0.0:1.0:0.0	.	227	P55795	HNRH2_HUMAN	V	182;227	ENSP00000361927:G227V	ENSP00000361927:G227V	G	+	2	0	HNRNPH2	100554312	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	6.294000	0.72738	2.345000	0.79718	0.513000	0.50165	GGG		PASS	0.522	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		15	20	15	20	---	---	---	---
NXF5	55998	broad.mit.edu	37	X	101097735	101097735	+	Missense_Mutation	SNP	C	C	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:101097735C>A	ENST00000361708.2	-	3	389	c.30G>T	c.(28-30)atG>atT	p.M10I	NXF5_ENST00000473265.2_Missense_Mutation_p.M10I|NXF5_ENST00000537026.1_Missense_Mutation_p.M10I			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	10					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.M10I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACCATTTCCTCATGTTTTCAT	0.423																																						uc011mrk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(28-30)ATG>ATT		nuclear RNA export factor 5							439.0	342.0	375.0					X																	101097735		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101097735C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.30G>T	X.37:g.101097735C>A	ENSP00000355286:p.Met10Ile					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.M10I	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			3	390	-			10					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.30G>T		.	.	.	.	.	.	.	.	.	.	C	4.813	0.151233	0.09185	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.41065	1.01;1.01;1.01	2.02	-1.69	0.08186	.	2.071120	0.02506	U	0.090975	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.07424	-1.0773	10	0.19147	T	0.46	.	3.666	0.08255	0.0:0.5198:0.249:0.2313	.	10	A2RRM0	.	I	10	ENSP00000442401:M10I;ENSP00000426978:M10I;ENSP00000355286:M10I	ENSP00000263032:M10I	M	-	3	0	NXF5	100984391	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.653000	0.05360	-0.520000	0.06435	0.406000	0.27484	ATG		PASS	0.423	NXF5-201	KNOWN	basic	protein_coding	protein_coding				73	61	73	61	---	---	---	---
ATG4A	115201	broad.mit.edu	37	X	107380351	107380351	+	Silent	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:107380351C>T	ENST00000372232.3	+	7	657	c.498C>T	c.(496-498)tcC>tcT	p.S166S	ATG4A_ENST00000545696.1_Silent_p.S89S|ATG4A_ENST00000372254.3_Silent_p.S142S|ATG4A_ENST00000345734.3_Silent_p.S166S	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	166					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)	p.S166S(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AATGGAATTCCTTGGCTGTTT	0.378																																						uc004enr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(496-498)TCC>TCT		autophagy-related cysteine endopeptidase 2							178.0	151.0	160.0					X																	107380351		2203	4300	6503	SO:0001819	synonymous_variant	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107380351C>T	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.498C>T	X.37:g.107380351C>T						ATG4A_uc004ent.2_Silent_p.S166S|ATG4A_uc004ens.2_Silent_p.S82S|ATG4A_uc011msl.1_Silent_p.S82S|ATG4A_uc010npi.2_Intron|ATG4A_uc004enu.2_Silent_p.S82S	p.S166S	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN			7	621	+			166					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Silent	SNP	ENST00000372232.3	37	c.498C>T	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200507	0.22121	.	.	ENSG00000101844	ENST00000394892	.	.	.	6.08	5.22	0.72569	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54649	-0.8262	4	.	.	.	-6.1461	5.1995	0.15256	0.2793:0.5601:0.0:0.1606	.	.	.	.	L	139	.	.	P	+	2	0	ATG4A	107267007	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	0.634000	0.24614	1.315000	0.45114	0.600000	0.82982	CCT		PASS	0.378	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		20	31	20	31	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110491218	110491218	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:110491218T>A	ENST00000324068.1	-	11	1654	c.1487A>T	c.(1486-1488)gAa>gTa	p.E496V	CAPN6_ENST00000541758.1_Missense_Mutation_p.E241V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	496					microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.E496V(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAGAGTCAGTTCCCTAGAACA	0.433																																						uc004epc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1486-1488)GAA>GTA		calpain 6							176.0	166.0	169.0					X																	110491218		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491218T>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1487A>T	X.37:g.110491218T>A	ENSP00000317214:p.Glu496Val					CAPN6_uc011msu.1_Missense_Mutation_p.E241V	p.E496V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			11	1655	-			496					D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1487A>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366677	0.82463	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.89485	-2.52;-2.52	5.61	5.61	0.85477	Peptidase C2, calpain, large subunit, domain III (1);	0.000000	0.47455	D	0.000232	D	0.91570	0.7337	L	0.42686	1.345	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92314	0.5860	10	0.87932	D	0	.	12.7288	0.57187	0.0:0.0:0.0:1.0	.	496	Q9Y6Q1	CAN6_HUMAN	V	496;241	ENSP00000317214:E496V;ENSP00000441736:E241V	ENSP00000317214:E496V	E	-	2	0	CAPN6	110377874	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.183000	0.77697	1.982000	0.57802	0.486000	0.48141	GAA		PASS	0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			24	83	24	83	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494147	110494147	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:110494147G>T	ENST00000324068.1	-	8	1323	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	CAPN6_ENST00000541758.1_Missense_Mutation_p.Q131K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	386	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.Q386K(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTCAAACCTGGGGATTCTGC	0.453																																						uc004epc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1156-1158)CAG>AAG		calpain 6							170.0	161.0	164.0					X																	110494147		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494147G>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1156C>A	X.37:g.110494147G>T	ENSP00000317214:p.Gln386Lys					CAPN6_uc011msu.1_Missense_Mutation_p.Q131K	p.Q386K	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			8	1324	-			386			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1156C>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129478	0.77549	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.89875	-2.58;-2.58	5.85	5.85	0.93711	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.287225	0.35495	N	0.003177	D	0.93151	0.7819	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93589	0.6919	10	0.87932	D	0	.	19.0586	0.93078	0.0:0.0:1.0:0.0	.	386	Q9Y6Q1	CAN6_HUMAN	K	386;131	ENSP00000317214:Q386K;ENSP00000441736:Q131K	ENSP00000317214:Q386K	Q	-	1	0	CAPN6	110380803	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	9.422000	0.97458	2.450000	0.82876	0.600000	0.82982	CAG		PASS	0.453	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			71	57	71	57	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110653371	110653371	+	Missense_Mutation	SNP	C	C	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:110653371C>T	ENST00000338081.3	-	2	670	c.499G>A	c.(499-501)Gac>Aac	p.D167N	DCX_ENST00000371993.2_Missense_Mutation_p.D86N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.D86N|DCX_ENST00000356915.2_Missense_Mutation_p.D86N|DCX_ENST00000356220.3_Missense_Mutation_p.D86N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	167	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		D -> H (in SBHX). {ECO:0000269|PubMed:11175293}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.D86N(1)|p.D167N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CGCGTCAGGTCAGCCAGCAAG	0.517																																						uc004epd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4	GRCh37	CM010015	DCX	M		c.(499-501)GAC>AAC		doublecortin isoform a							237.0	173.0	195.0					X																	110653371		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653371C>T	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.499G>A	X.37:g.110653371C>T	ENSP00000337697:p.Asp167Asn					DCX_uc011msv.1_Missense_Mutation_p.D167N|DCX_uc004epe.2_Missense_Mutation_p.D86N|DCX_uc004epf.2_Missense_Mutation_p.D86N|DCX_uc004epg.2_Missense_Mutation_p.D86N	p.D167N	NM_000555	NP_000546	O43602	DCX_HUMAN			2	671	-			167		D -> H (in SBHX).	Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.499G>A	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456965	0.96223	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.5	5.5	0.81552	Doublecortin domain (5);	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	M	0.65320	2	0.80722	D	1	D;B	0.64830	0.994;0.445	D;P	0.78314	0.991;0.556	D	0.95720	0.8765	10	0.49607	T	0.09	.	18.4403	0.90664	0.0:1.0:0.0:0.0	.	155;167	B4DM53;O43602	.;DCX_HUMAN	N	86;86;167;86;86;86	ENSP00000349385:D86N;ENSP00000361061:D86N;ENSP00000337697:D167N;ENSP00000348553:D86N;ENSP00000419861:D86N;ENSP00000418811:D86N	ENSP00000337697:D167N	D	-	1	0	DCX	110540027	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.551000	0.86045	0.600000	0.82982	GAC		PASS	0.517	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		34	22	34	22	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685530	125685530	+	Silent	SNP	C	C	T	rs138224583	byFrequency	TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:125685530C>T	ENST00000371126.1	-	1	1304	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	354								p.R354R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCTCAGCGACCGCACGCCTG	0.622																																						uc004eul.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1060-1062)CGG>CGA		DDB1 and CUL4 associated factor 12-like 1							33.0	34.0	33.0					X																	125685530		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685530C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1062G>A	X.37:g.125685530C>T							p.R354R	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1313	-			354			WD 4.		Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.1062G>A	CCDS14610.1																																																																																				PASS	0.622	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		12	16	12	16	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131212472	131212472	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:131212472G>T	ENST00000298542.4	-	12	1748	c.1573C>A	c.(1573-1575)Ccc>Acc	p.P525T	FRMD7_ENST00000464296.1_Missense_Mutation_p.P510T|FRMD7_ENST00000370879.1_Missense_Mutation_p.P405T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	525					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.P525T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATTGCAGTGGGCTCTACATAG	0.498																																						uc004ewn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1573-1575)CCC>ACC		FERM domain containing 7							170.0	165.0	167.0					X																	131212472		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212472G>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1573C>A	X.37:g.131212472G>T	ENSP00000298542:p.Pro525Thr					FRMD7_uc011muy.1_Missense_Mutation_p.P510T	p.P525T	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1751	-	Acute lymphoblastic leukemia(192;0.000127)		525					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1573C>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	0.119	-1.128611	0.01756	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.85702	-2.02;-1.68;-1.79	4.55	0.781	0.18561	.	0.849887	0.10462	N	0.671873	T	0.75398	0.3844	L	0.34521	1.04	0.09310	N	1	B;B	0.17268	0.016;0.021	B;B	0.17098	0.017;0.013	T	0.62807	-0.6776	10	0.62326	D	0.03	.	4.8774	0.13664	0.3159:0.0:0.5475:0.1367	.	510;525	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	405;525;510	ENSP00000359916:P405T;ENSP00000298542:P525T;ENSP00000417996:P510T	ENSP00000298542:P525T	P	-	1	0	FRMD7	131040153	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.213000	0.17521	-0.099000	0.12263	-0.881000	0.02953	CCC		PASS	0.498	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		51	80	51	80	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148798397	148798397	+	Silent	SNP	G	G	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:148798397G>A	ENST00000355220.5	+	5	1353	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L	MAGEA11_ENST00000333104.4_Silent_p.L388L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	417	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L417L(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCCATCCCTGTATGAAGATG	0.557																																						uc004fdq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1249-1251)CTG>CTA		melanoma antigen family A, 11 isoform a							120.0	93.0	102.0					X																	148798397		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148798397G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1251G>A	X.37:g.148798397G>A						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.L388L	p.L417L	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1353	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		417			MAGE.		Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.1251G>A	CCDS48180.1																																																																																				PASS	0.557	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		42	23	42	23	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303813	151303813	+	Missense_Mutation	SNP	G	G	T			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:151303813G>T	ENST00000370323.4	-	4	596	c.280C>A	c.(280-282)Ccc>Acc	p.P94T	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P94T|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	94						nucleus (GO:0005634)		p.P94T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACGACCGAGGGGGAGGAGCAG	0.547																																						uc004ffk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)CCC>ACC		melanoma antigen family A, 10							173.0	175.0	174.0					X																	151303813		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303813G>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.280C>A	X.37:g.151303813G>T	ENSP00000359347:p.Pro94Thr					MAGEA10_uc004ffl.2_Missense_Mutation_p.P94T	p.P94T	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	688	-	Acute lymphoblastic leukemia(192;6.56e-05)		94						Missense_Mutation	SNP	ENST00000370323.4	37	c.280C>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199472	0.06219	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	2.33	-3.0	0.05480	Melanoma associated antigen, MAGE, N-terminal (1);	1.793900	0.03434	N	0.208358	T	0.06554	0.0168	L	0.46157	1.445	0.09310	N	1	P	0.38745	0.645	B	0.43194	0.411	T	0.38585	-0.9654	10	0.11485	T	0.65	.	7.7083	0.28663	0.746:0.0:0.254:0.0	.	94	P43363	MAGAA_HUMAN	T	94	ENSP00000359347:P94T;ENSP00000244096:P94T;ENSP00000406161:P94T;ENSP00000391977:P94T	ENSP00000244096:P94T	P	-	1	0	MAGEA10	151054469	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.255000	0.02872	-1.077000	0.03121	0.292000	0.19580	CCC		PASS	0.547	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		52	65	52	65	---	---	---	---
IDH3G	3421	broad.mit.edu	37	X	153053588	153053588	+	Missense_Mutation	SNP	T	T	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:153053588T>A	ENST00000217901.5	-	6	545	c.349A>T	c.(349-351)Aac>Tac	p.N117Y	IDH3G_ENST00000370092.3_Missense_Mutation_p.N117Y|IDH3G_ENST00000370093.1_Missense_Mutation_p.N117Y|IDH3G_ENST00000427365.2_Missense_Mutation_p.N59Y|IDH3G_ENST00000497043.1_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	117					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.N117Y(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCGATGTTGCCTACAAAA	0.587																																						uc004fip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)AAC>TAC		isocitrate dehydrogenase 3 (NAD+) gamma isoform	NADH(DB00157)						202.0	174.0	184.0					X																	153053588		2203	4300	6503	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153053588T>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.349A>T	X.37:g.153053588T>A	ENSP00000217901:p.Asn117Tyr					IDH3G_uc004fio.2_Missense_Mutation_p.N59Y|IDH3G_uc004fiq.2_Missense_Mutation_p.N117Y|IDH3G_uc010num.2_Missense_Mutation_p.N59Y|IDH3G_uc004fir.2_Missense_Mutation_p.N59Y|IDH3G_uc004fit.1_Missense_Mutation_p.N117Y|IDH3G_uc004fis.2_Missense_Mutation_p.N59Y|IDH3G_uc004fiu.2_5'Flank	p.N117Y	NM_004135	NP_004126	P51553	IDH3G_HUMAN			6	535	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		117					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.349A>T	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.302177	0.23736	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.07	5.74	5.74	0.90152	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.92649	3.33	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.71870	0.975;0.943	D	0.85494	0.1187	10	0.30078	T	0.28	.	13.8944	0.63761	0.0:0.0:0.0:1.0	.	117;117	E9PDD5;P51553	.;IDH3G_HUMAN	Y	117;117;117;59;13;94;57	ENSP00000359110:N117Y;ENSP00000217901:N117Y;ENSP00000359111:N117Y;ENSP00000408529:N59Y;ENSP00000401862:N94Y;ENSP00000402747:N57Y	ENSP00000217901:N117Y	N	-	1	0	IDH3G	152706782	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	7.774000	0.85478	1.926000	0.55796	0.430000	0.28490	AAC		PASS	0.587	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			52	39	52	39	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153692517	153692517	+	Missense_Mutation	SNP	C	C	G	rs144165306		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:153692517C>G	ENST00000369682.3	+	8	1864	c.1689C>G	c.(1687-1689)caC>caG	p.H563Q		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	563					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.H563Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACCCTGCACAACGTGCCAG	0.697																																						uc004flm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1687-1689)CAC>CAG		plexin A3 precursor							37.0	28.0	31.0					X																	153692517		2199	4296	6495	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692517C>G	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1689C>G	X.37:g.153692517C>G	ENSP00000358696:p.His563Gln						p.H563Q	NM_017514	NP_059984	P51805	PLXA3_HUMAN			8	1862	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		563			Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1689C>G	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	0.133	-1.111758	0.01813	.	.	ENSG00000130827	ENST00000369682	T	0.00848	5.62	5.37	3.54	0.40534	.	0.963678	0.08654	N	0.913477	T	0.00580	0.0019	N	0.01576	-0.805	0.25068	N	0.991017	B	0.02656	0.0	B	0.04013	0.001	T	0.46871	-0.9160	10	0.16896	T	0.51	.	10.8597	0.46819	0.0:0.7016:0.2066:0.0918	.	563	P51805	PLXA3_HUMAN	Q	563	ENSP00000358696:H563Q	ENSP00000358696:H563Q	H	+	3	2	PLXNA3	153345711	0.998000	0.40836	0.579000	0.28588	0.001000	0.01503	1.957000	0.40392	0.470000	0.27294	-0.916000	0.02749	CAC		PASS	0.697	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		3	3	3	3	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77761870	77761871	+	Frame_Shift_Ins	INS	-	-	A			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr8:77761870_77761871insA	ENST00000521891.2	+	8	4216_4217	c.3768_3769insA	c.(3769-3771)aacfs	p.N1257fs	ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.N1212fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.N1231fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.N1212fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGTCCTCAGCAACAAAATGCA	0.49										HNSCC(33;0.089)																												uc003yav.2																			0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3631-3636)AGCAACfs		zinc finger homeodomain 4																																				SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77761870_77761871insA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3770dupA	8.37:g.77761872_77761872dupA	ENSP00000430497:p.Asn1257fs	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Frame_Shift_Ins_p.S1256fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.S1211fs	p.S1211fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		8	4020_4021	+			1211_1212			C2H2-type 9.		G3V138|Q18PS0|Q6ZN20	Frame_Shift_Ins	INS	ENST00000521891.2	37	c.3633_3634insA	CCDS47878.2																																																																																					0.490	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		57	27	57	27	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134062759	134062759	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr11:134062759delC	ENST00000534548.2	-	16	1934	c.1870delG	c.(1870-1872)gtgfs	p.V625fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	625					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCGGGACCACCCCCCGCAAC	0.542																																						uc001qhd.1																			0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(1870-1872)GTGfs		non-SMC condensin II complex, subunit D3							82.0	78.0	80.0					11																	134062759		2201	4297	6498	SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134062759delC	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1870delG	11.37:g.134062759delC	ENSP00000433681:p.Val625fs					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.V624fs	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	16	2476	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	624					A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	ENST00000534548.2	37	c.1870delG	CCDS31723.1																																																																																					0.542	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		73	32	73	32	---	---	---	---
DISP2	85455	broad.mit.edu	37	15	40659933	40659933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr15:40659933delC	ENST00000267889.3	+	8	1707	c.1620delC	c.(1618-1620)ttcfs	p.F540fs	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	540	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGCCTACTTCCCCTTCGTCA	0.617																																						uc001zlk.1																			0				ovary(2)	2						c.(1618-1620)TTCfs		dispatched B							83.0	72.0	76.0					15																	40659933		2203	4300	6503	SO:0001589	frameshift_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40659933delC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1620delC	15.37:g.40659933delC	ENSP00000267889:p.Phe540fs						p.F540fs	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1709	+		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)	540			SSD.		Q6AHW3|Q9C0C1	Frame_Shift_Del	DEL	ENST00000267889.3	37	c.1620delC	CCDS10056.1																																																																																					0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		29	15	29	15	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1823398	1823402	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chr16:1823398_1823402delGCAGG	ENST00000568449.1	+	1	191_195	c.170_174delGCAGG	c.(169-174)cgcaggfs	p.RR57fs	NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_Frame_Shift_Del_p.RR57fs|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	57					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GCGGGTGAGCGCAGGGCGGCTGCCG	0.737								Direct reversal of damage;Homologous recombination																														uc002cmq.1																			0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(169-174)CGCAGGfs	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 2																																				SO:0001589	frameshift_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1823398_1823402delGCAGG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.170_174delGCAGG	16.37:g.1823398_1823402delGCAGG	ENSP00000457353:p.Arg57fs					NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Frame_Shift_Del_p.R57fs	p.R57fs	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN			1	170_174	+			57_58					Q8TEP2|Q96RY3	Frame_Shift_Del	DEL	ENST00000568449.1	37	c.170_174delGCAGG	CCDS58404.1																																																																																					0.737	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	10	8	10	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	uc010njt.2																			5	Unknown(5)		upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)		0								nudix-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159	NP_060629	Q96G61	NUD11_HUMAN			1		-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																					0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	5	7	5	---	---	---	---
F9	2158	broad.mit.edu	37	X	138633269	138633269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:138633269delC	ENST00000218099.2	+	6	576	c.569delC	c.(568-570)accfs	p.T190fs	F9_ENST00000394090.2_Frame_Shift_Del_p.T152fs	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	190					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TCTAAGCTCACCCGTGCTGAG	0.368																																						uc004fas.1																			0				lung(2)|ovary(1)	3						c.(568-570)ACCfs		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						110.0	97.0	102.0					X																	138633269		2203	4300	6503	SO:0001589	frameshift_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138633269delC	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.569delC	X.37:g.138633269delC	ENSP00000218099:p.Thr190fs					F9_uc004fat.1_Frame_Shift_Del_p.T152fs	p.T190fs	NM_000133	NP_000124	P00740	FA9_HUMAN			6	598	+	Acute lymphoblastic leukemia(192;0.000127)		190					A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Frame_Shift_Del	DEL	ENST00000218099.2	37	c.569delC	CCDS14666.1																																																																																					0.368	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			35	33	35	33	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151093042	151093042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-5668-01A-01D-1632-08	TCGA-43-5668-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f01dfe80-aee9-44f6-b32d-3591fbc3c0f5	4cec06de-d6de-4e8b-ad24-e9559630c0aa	g.chrX:151093042delC	ENST00000360243.2	+	3	1173	c.906delC	c.(904-906)tacfs	p.Y302fs	MAGEA4_ENST00000370340.3_Frame_Shift_Del_p.Y302fs|MAGEA4_ENST00000276344.2_Frame_Shift_Del_p.Y302fs|MAGEA4_ENST00000370335.1_Frame_Shift_Del_p.Y302fs|MAGEA4_ENST00000370337.4_Frame_Shift_Del_p.Y302fs|MAGEA4_ENST00000393920.1_Frame_Shift_Del_p.Y302fs|MAGEA4_ENST00000393921.1_Frame_Shift_Del_p.Y302fs	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	302	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTGCCTACCCATCCCTGC	0.572																																						uc004fez.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(904-906)TACfs		melanoma antigen family A, 4							107.0	101.0	103.0					X																	151093042		2203	4300	6503	SO:0001589	frameshift_variant	4103						protein binding	g.chrX:151093042delC		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.906delC	X.37:g.151093042delC	ENSP00000353379:p.Tyr302fs					MAGEA4_uc004ffa.2_Frame_Shift_Del_p.Y302fs|MAGEA4_uc004ffb.2_Frame_Shift_Del_p.Y302fs|MAGEA4_uc004ffc.2_Frame_Shift_Del_p.Y302fs|MAGEA4_uc004ffd.2_Frame_Shift_Del_p.Y302fs	p.Y302fs	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	1062	+	Acute lymphoblastic leukemia(192;6.56e-05)		302			MAGE.		Q14798	Frame_Shift_Del	DEL	ENST00000360243.2	37	c.906delC	CCDS14702.1																																																																																					0.572	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		42	40	42	40	---	---	---	---
