#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
C1orf94	84970	broad.mit.edu	37	1	34663136	34663136	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:34663136C>G	ENST00000488417.1	+	2	751	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	C1orf94_ENST00000373374.3_Missense_Mutation_p.L21V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	211								p.L21V(1)|p.L211V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CACAGACATTCTGTGTGCCGC	0.557																																						uc001bxs.3																			2	Substitution - Missense(2)		lung(2)		0						c.(61-63)CTG>GTG		hypothetical protein LOC84970 isoform b							80.0	71.0	74.0					1																	34663136		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663136C>G	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.631C>G	1.37:g.34663136C>G	ENSP00000435634:p.Leu211Val					C1orf94_uc001bxt.2_Missense_Mutation_p.L211V	p.L21V	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			2	460	+		Myeloproliferative disorder(586;0.0393)	21					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.61C>G	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368183	0.24771	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.27720	1.65;1.65	4.98	1.91	0.25777	.	0.506555	0.16598	N	0.207479	T	0.31482	0.0798	L	0.59436	1.845	0.21967	N	0.999441	P	0.44139	0.827	P	0.46543	0.52	T	0.14615	-1.0466	10	0.59425	D	0.04	-17.6641	4.3234	0.11029	0.0:0.6041:0.19:0.2059	.	211	Q6P1W5	CA094_HUMAN	V	21;211	ENSP00000362472:L21V;ENSP00000435634:L211V	ENSP00000362472:L21V	L	+	1	2	C1orf94	34435723	0.004000	0.15560	0.630000	0.29268	0.022000	0.10575	0.154000	0.16343	0.516000	0.28340	0.563000	0.77884	CTG		PASS	0.557	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		28	109	28	109	---	---	---	---
ZMYM1	79830	broad.mit.edu	37	1	35579681	35579681	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:35579681G>T	ENST00000373330.1	+	11	2424	c.2250G>T	c.(2248-2250)ttG>ttT	p.L750F	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.L750F			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	750						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L750F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACACTTTTTGGATTTATCAA	0.303																																						uc001bym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2248-2250)TTG>TTT		zinc finger, MYM domain containing 1							53.0	53.0	53.0					1																	35579681		1794	4069	5863	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579681G>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2250G>T	1.37:g.35579681G>T	ENSP00000362427:p.Leu750Phe					ZMYM1_uc001byn.2_Missense_Mutation_p.L750F|ZMYM1_uc010ohu.1_Missense_Mutation_p.L731F|ZMYM1_uc001byo.2_Missense_Mutation_p.L390F|ZMYM1_uc009vut.2_Missense_Mutation_p.L675F	p.L750F	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	2398	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	750					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2250G>T	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	1.405	-0.577046	0.03854	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.35236	1.32;1.32;1.32	4.24	0.631	0.17699	Ribonuclease H-like (1);	0.684102	0.12308	N	0.480513	T	0.22322	0.0538	L	0.29908	0.895	0.26071	N	0.981221	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.004	T	0.24154	-1.0168	9	.	.	.	-0.0989	6.5052	0.22192	0.0915:0.0:0.4343:0.4742	.	731;750	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	F	750;675;750	ENSP00000352920:L750F;ENSP00000362426:L675F;ENSP00000362427:L750F	.	L	+	3	2	ZMYM1	35352268	1.000000	0.71417	0.995000	0.50966	0.004000	0.04260	0.560000	0.23500	0.125000	0.18397	0.557000	0.71058	TTG		PASS	0.303	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		18	80	18	80	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39788297	39788297	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:39788297G>A	ENST00000372915.3	+	31	4149	c.4062G>A	c.(4060-4062)ctG>ctA	p.L1354L	MACF1_ENST00000545844.1_Silent_p.L1354L|MACF1_ENST00000567887.1_Silent_p.L1386L|MACF1_ENST00000361689.2_Silent_p.L1354L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Silent_p.L1349L|MACF1_ENST00000317713.7_Silent_p.L1354L|MACF1_ENST00000539005.1_Silent_p.L1354L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1354					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.L1354L(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)			AATTGCAACTGATGACATACA	0.428																																						uc010ois.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4060-4062)CTG>CTA		microfilament and actin filament cross-linker							107.0	112.0	110.0					1																	39788297		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:39788297G>A	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.4062G>A	1.37:g.39788297G>A						MACF1_uc001cda.1_Silent_p.L1262L|MACF1_uc001cdc.1_Silent_p.L441L|MACF1_uc009vvq.1_Silent_p.L411L|MACF1_uc001cdb.1_Silent_p.L441L	p.L1354L	NM_012090	NP_036222	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)		33	4267	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1354					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.4062G>A		.	.	.	.	.	.	.	.	.	.	G	9.232	1.036123	0.19590	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.99	1.44	0.22558	.	.	.	.	.	T	0.45518	0.1346	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	3.4697	0.07562	0.1989:0.0963:0.5003:0.2045	.	.	.	.	N	488	.	.	D	+	1	0	MACF1	39560884	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.433000	0.21477	0.396000	0.25283	0.655000	0.94253	GAT		PASS	0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		24	162	24	162	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62228771	62228771	+	Missense_Mutation	SNP	A	A	G	rs564523661	byFrequency	TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:62228771A>G	ENST00000371158.2	+	3	223	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	INADL_ENST00000316485.6_Missense_Mutation_p.M37V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	37	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.M37V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAGTTATCTATGTTTTATGA	0.438													A|||	3	0.000599042	0.0	0.0	5008	,	,		12552	0.0		0.0	False		,,,				2504	0.0031					uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(109-111)ATG>GTG		InaD-like							89.0	81.0	83.0					1																	62228771		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62228771A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.109A>G	1.37:g.62228771A>G	ENSP00000360200:p.Met37Val					INADL_uc009waf.1_Missense_Mutation_p.M37V|INADL_uc001daa.2_Missense_Mutation_p.M37V	p.M37V	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			3	223	+			37			L27.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.109A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	0.183	-1.060546	0.01950	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.11169	2.92;2.8	5.37	-10.7	0.00240	L27 (2);L27-2 (1);	1.407460	0.04399	N	0.363914	T	0.02929	0.0087	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37291	-0.9712	10	0.28530	T	0.3	.	5.2117	0.15320	0.227:0.3779:0.3006:0.0946	.	37;37;37	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	37	ENSP00000360200:M37V;ENSP00000326199:M37V	ENSP00000255202:M37V	M	+	1	0	INADL	62001359	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-2.536000	0.00940	-3.415000	0.00168	-2.126000	0.00345	ATG		PASS	0.438	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		37	84	37	84	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76387993	76387993	+	Silent	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:76387993G>T	ENST00000284142.6	-	2	592	c.453C>A	c.(451-453)ctC>ctA	p.L151L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	151					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L151L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CTACATAAAAGAGAGGTGTGA	0.328																																						uc001dhe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(451-453)CTC>CTA		ankyrin repeat and SOCS box-containing 17							73.0	69.0	71.0					1																	76387993		2203	4300	6503	SO:0001819	synonymous_variant	127247				intracellular signal transduction			g.chr1:76387993G>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.453C>A	1.37:g.76387993G>T						ASB17_uc001dhf.1_Intron	p.L151L	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			2	593	-			151			ANK.		B1APB8|Q8N0X5	Silent	SNP	ENST00000284142.6	37	c.453C>A	CCDS671.1																																																																																				PASS	0.328	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		33	57	33	57	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102312450	102312450	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:102312450G>T	ENST00000338858.5	-	1	79	c.80C>A	c.(79-81)cCa>cAa	p.P27Q	OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.P27Q			Q96PB7	NOE3_HUMAN	olfactomedin 3	27					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCAAGGATGGGAGAGTTTG	0.498																																						uc001duf.2																			0				ovary(2)|skin(1)	3						c.(79-81)CCA>CAA		olfactomedin 3							137.0	121.0	126.0					1																	102312450		876	1991	2867	SO:0001583	missense	118427					extracellular region		g.chr1:102312450G>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.80C>A	1.37:g.102312450G>T	ENSP00000345192:p.Pro27Gln					OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA	p.P27Q	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	1	151	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	27					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.80C>A		.	.	.	.	.	.	.	.	.	.	G	17.93	3.509771	0.64522	.	.	ENSG00000118733	ENST00000338858;ENST00000359814	D;T	0.91945	-2.94;-0.54	5.23	5.23	0.72850	.	0.425730	0.25540	N	0.029967	D	0.96056	0.8715	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.96490	0.9363	9	0.87932	D	0	.	18.7908	0.91973	0.0:0.0:1.0:0.0	.	27	Q96PB7	NOE3_HUMAN	Q	27	ENSP00000345192:P27Q;ENSP00000352867:P27Q	ENSP00000345192:P27Q	P	-	2	0	OLFM3	102085038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.436000	0.82500	0.591000	0.81541	CCA		PASS	0.498	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			47	126	47	126	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117564311	117564311	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:117564311A>T	ENST00000256652.4	+	7	2192	c.2134A>T	c.(2134-2136)Att>Ttt	p.I712F	CD101_ENST00000369470.1_Missense_Mutation_p.I712F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	712	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.I712F(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTAGCCATTATTTGGTATTT	0.428																																						uc010oxb.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2134-2136)ATT>TTT		immunoglobulin superfamily, member 2 precursor							87.0	76.0	80.0					1																	117564311		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117564311A>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2134A>T	1.37:g.117564311A>T	ENSP00000256652:p.Ile712Phe					CD101_uc009whd.2_Missense_Mutation_p.I712F|CD101_uc010oxc.1_Missense_Mutation_p.I712F|CD101_uc010oxd.1_Missense_Mutation_p.I650F	p.I712F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			7	2192	+			712			Ig-like C2-type 6.|Extracellular (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.2134A>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	A	7.960	0.746817	0.15710	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.66099	-0.19;-0.19	5.04	2.76	0.32466	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.954266	0.08722	N	0.903337	T	0.46034	0.1372	L	0.57536	1.79	0.09310	N	1	P	0.45634	0.863	P	0.47206	0.541	T	0.38693	-0.9649	10	0.54805	T	0.06	-0.2845	6.2667	0.20930	0.8063:0.0:0.1937:0.0	.	712	Q93033	IGSF2_HUMAN	F	712	ENSP00000256652:I712F;ENSP00000358482:I712F	ENSP00000256652:I712F	I	+	1	0	CD101	117365834	0.600000	0.26899	0.008000	0.14137	0.121000	0.20230	2.541000	0.45735	0.423000	0.26033	0.533000	0.62120	ATT		PASS	0.428	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		40	78	40	78	---	---	---	---
GJA5	2702	broad.mit.edu	37	1	147230638	147230638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:147230638G>A	ENST00000271348.2	-	2	870	c.709C>T	c.(709-711)Cga>Tga	p.R237*	GJA5_ENST00000369237.1_Nonsense_Mutation_p.R237*|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	237					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R237*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTGACAAATCGCTGTCTGATC	0.547																																						uc001eps.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(709-711)CGA>TGA		connexin 40							55.0	57.0	57.0					1																	147230638		2203	4300	6503	SO:0001587	stop_gained	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230638G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.709C>T	1.37:g.147230638G>A	ENSP00000271348:p.Arg237*					GJA5_uc001ept.1_Nonsense_Mutation_p.R237*	p.R237*	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	850	-	all_hematologic(923;0.0276)		237			Cytoplasmic (Potential).		Q5T3B6|Q5U0N6	Nonsense_Mutation	SNP	ENST00000271348.2	37	c.709C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561105	0.45590	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	.	.	.	5.68	2.66	0.31614	.	0.786143	0.12208	N	0.489624	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	10.3699	0.44046	0.0:0.1089:0.3456:0.5455	.	.	.	.	X	237	.	ENSP00000271348:R237X	R	-	1	2	GJA5	145697262	0.001000	0.12720	0.001000	0.08648	0.155000	0.21991	1.316000	0.33620	0.285000	0.22329	-0.309000	0.09137	CGA		PASS	0.547	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		17	112	17	112	---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155255034	155255034	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:155255034C>T	ENST00000368358.3	+	5	1176	c.1168C>T	c.(1168-1170)Cac>Tac	p.H390Y	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	390					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.H390Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTACTATGAGCACCGCTACCA	0.627																																						uc001fjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1168-1170)CAC>TAC		hyperpolarization activated cyclic							82.0	73.0	76.0					1																	155255034		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155255034C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1168C>T	1.37:g.155255034C>T	ENSP00000357342:p.His390Tyr					RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.H85Y	p.H390Y	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	1176	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		390			Cytoplasmic (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.1168C>T	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368475	0.82463	.	.	ENSG00000143630	ENST00000368358	D	0.95622	-3.76	5.21	5.21	0.72293	Cyclic nucleotide-binding-like (1);	0.000000	0.53938	D	0.000052	D	0.90954	0.7156	L	0.39326	1.205	0.58432	D	0.999997	P;B	0.39443	0.674;0.267	B;B	0.42163	0.378;0.37	D	0.90009	0.4120	10	0.22109	T	0.4	.	16.5955	0.84795	0.0:1.0:0.0:0.0	.	85;390	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	Y	390	ENSP00000357342:H390Y	ENSP00000357342:H390Y	H	+	1	0	HCN3	153521658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.880000	0.69698	2.590000	0.87494	0.563000	0.77884	CAC		PASS	0.627	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		38	63	38	63	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175292529	175292529	+	Silent	SNP	G	G	A	rs201150582		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:175292529G>A	ENST00000367674.2	-	23	4749	c.4041C>T	c.(4039-4041)ctC>ctT	p.L1347L	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Silent_p.L1347L			Q92752	TENR_HUMAN	tenascin R	1347					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.L1347L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCCTGCCATGAGACGGTGGT	0.473																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(4039-4041)CTC>CTT		tenascin R precursor							161.0	143.0	149.0					1																	175292529		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175292529G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.4041C>T	1.37:g.175292529G>A						TNR_uc009wwu.1_Silent_p.L1347L	p.L1347L	NM_003285	NP_003276	Q92752	TENR_HUMAN			21	4122	-	Renal(580;0.146)		1347					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.4041C>T	CCDS1318.1																																																																																				PASS	0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		26	262	26	262	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183857628	183857628	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:183857628T>G	ENST00000360851.3	+	8	1150	c.972T>G	c.(970-972)aaT>aaG	p.N324K	RGL1_ENST00000536277.1_Missense_Mutation_p.N322K|RGL1_ENST00000539189.1_Missense_Mutation_p.N324K|RGL1_ENST00000304685.4_Missense_Mutation_p.N359K			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	324	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.N359K(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCCTGAAGAATTTTTCCTCCT	0.418																																						uc001gqo.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(970-972)AAT>AAG		ral guanine nucleotide dissociation							152.0	161.0	158.0					1																	183857628		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183857628T>G	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.972T>G	1.37:g.183857628T>G	ENSP00000354097:p.Asn324Lys					RGL1_uc010pof.1_Missense_Mutation_p.N129K|RGL1_uc001gqm.2_Missense_Mutation_p.N359K|RGL1_uc010pog.1_Missense_Mutation_p.N322K|RGL1_uc010poh.1_Missense_Mutation_p.N322K|RGL1_uc010poi.1_Missense_Mutation_p.N324K	p.N324K	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			8	1129	+			324			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.972T>G		.	.	.	.	.	.	.	.	.	.	T	18.27	3.587034	0.66105	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.07	-1.4	0.08968	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	H	0.97918	4.105	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.996;0.998;0.998;0.998;0.998	D	0.87677	0.2545	10	0.87932	D	0	.	12.4182	0.55506	0.0:0.4937:0.0:0.5063	.	324;322;129;324;359	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	K	359;359;322;129;324;324	ENSP00000303192:N359K;ENSP00000356501:N359K;ENSP00000438662:N322K;ENSP00000354097:N324K;ENSP00000437355:N324K	ENSP00000303192:N359K	N	+	3	2	RGL1	182124251	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.687000	0.25407	-0.235000	0.09767	0.533000	0.62120	AAT		PASS	0.418	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		45	531	45	531	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170587	214170587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:214170587C>T	ENST00000366958.4	+	2	1317	c.709C>T	c.(709-711)Cga>Tga	p.R237*	PROX1_ENST00000498508.2_Nonsense_Mutation_p.R237*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.R237*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.R237*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	237					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.R237*(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)		AGAGGAGCGCCGACAGCTGAA	0.498																																						uc001hkh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(709-711)CGA>TGA		prospero homeobox 1							38.0	41.0	40.0					1																	214170587		2203	4300	6503	SO:0001587	stop_gained	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.chr1:214170587C>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.709C>T	1.37:g.214170587C>T	ENSP00000355925:p.Arg237*					PROX1_uc001hkg.1_Nonsense_Mutation_p.R237*	p.R237*	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	981	+			237					A6NK29|A8K2B1|Q5SW76|Q8TB91	Nonsense_Mutation	SNP	ENST00000366958.4	37	c.709C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	42	9.454913	0.99175	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	5.93	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8463	14.5613	0.68140	0.4886:0.5114:0.0:0.0	.	.	.	.	X	237	.	ENSP00000261454:R237X	R	+	1	2	PROX1	212237210	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.018000	0.40991	0.800000	0.34041	-0.169000	0.13324	CGA		PASS	0.498	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		38	66	38	66	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216498814	216498814	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:216498814C>T	ENST00000307340.3	-	6	1362	c.976G>A	c.(976-978)Gac>Aac	p.D326N	USH2A_ENST00000366942.3_Missense_Mutation_p.D326N|USH2A_ENST00000366943.2_Missense_Mutation_p.D326N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	326	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.D326N(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)		TCAGCTGTGTCTCCTGCATCA	0.488										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.(976-978)GAC>AAC		usherin isoform B							102.0	90.0	94.0					1																	216498814		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.chr1:216498814C>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.976G>A	1.37:g.216498814C>T	ENSP00000305941:p.Asp326Asn	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.D326N	p.D326N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1363	-			326			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.976G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388603	0.61956	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19938	2.53;2.53;2.11	5.08	5.08	0.68730	Laminin, N-terminal (2);	0.000000	0.45867	D	0.000331	T	0.46718	0.1407	M	0.81802	2.56	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.44452	-0.9327	10	0.48119	T	0.1	.	11.9205	0.52789	0.0:0.9206:0.0:0.0794	.	326;326	O75445-2;O75445	.;USH2A_HUMAN	N	326	ENSP00000305941:D326N;ENSP00000355910:D326N;ENSP00000355909:D326N	ENSP00000305941:D326N	D	-	1	0	USH2A	214565437	1.000000	0.71417	0.914000	0.36105	0.017000	0.09413	4.633000	0.61318	2.368000	0.80403	0.650000	0.86243	GAC		PASS	0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		71	154	71	154	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236898981	236898981	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:236898981C>T	ENST00000366578.4	+	8	910	c.744C>T	c.(742-744)taC>taT	p.Y248Y	ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	248	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.Y248Y(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATGACGTACGTCTCTTGCT	0.522																																						uc001hyf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(742-744)TAC>TAT		actinin, alpha 2							196.0	145.0	162.0					1																	236898981		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236898981C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.744C>T	1.37:g.236898981C>T						ACTN2_uc001hyg.2_Silent_p.Y3Y|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	p.Y248Y	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		8	948	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	248			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.744C>T	CCDS1613.1																																																																																				PASS	0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		55	74	55	74	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777602	237777602	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:237777602A>T	ENST00000366574.2	+	37	5491	c.5174A>T	c.(5173-5175)tAc>tTc	p.Y1725F	RYR2_ENST00000360064.6_Missense_Mutation_p.Y1723F|RYR2_ENST00000542537.1_Missense_Mutation_p.Y1709F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1725	4 X approximate repeats.				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.Y1723F(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)			AACAACGAGTACATTGTCCCC	0.542																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5173-5175)TAC>TTC		cardiac muscle ryanodine receptor							62.0	62.0	62.0					1																	237777602		2138	4254	6392	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.chr1:237777602A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5174A>T	1.37:g.237777602A>T	ENSP00000355533:p.Tyr1725Phe						p.Y1725F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5294	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1725			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5174A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	6.330	0.428982	0.11987	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72394	-0.65;-0.65;-0.65	5.43	4.3	0.51218	.	0.184300	0.36409	N	0.002605	T	0.43366	0.1244	N	0.02830	-0.485	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22312	-1.0220	10	0.13470	T	0.59	.	11.5375	0.50645	0.139:0.0:0.0:0.861	.	1725	Q92736	RYR2_HUMAN	F	1725;1723;1709	ENSP00000355533:Y1725F;ENSP00000353174:Y1723F;ENSP00000443798:Y1709F	ENSP00000353174:Y1723F	Y	+	2	0	RYR2	235844225	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.492000	0.45311	0.895000	0.36342	-0.347000	0.07816	TAC		PASS	0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		28	59	28	59	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777665	237777665	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:237777665A>G	ENST00000366574.2	+	37	5554	c.5237A>G	c.(5236-5238)cAc>cGc	p.H1746R	RYR2_ENST00000360064.6_Missense_Mutation_p.H1744R|RYR2_ENST00000542537.1_Missense_Mutation_p.H1730R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1746	4 X approximate repeats.				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.H1744R(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)			AACAAAAAACACGGCCTTCCA	0.512																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5236-5238)CAC>CGC		cardiac muscle ryanodine receptor							65.0	65.0	65.0					1																	237777665		2044	4196	6240	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.chr1:237777665A>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.5237A>G	1.37:g.237777665A>G	ENSP00000355533:p.His1746Arg						p.H1746R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5357	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1746			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5237A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.144537	0.57044	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000006	T	0.73528	0.3598	M	0.64997	1.995	0.80722	D	1	P	0.39480	0.675	B	0.39840	0.311	T	0.74896	-0.3508	10	0.42905	T	0.14	.	15.4979	0.75669	1.0:0.0:0.0:0.0	.	1746	Q92736	RYR2_HUMAN	R	1746;1744;1730	ENSP00000355533:H1746R;ENSP00000353174:H1744R;ENSP00000443798:H1730R	ENSP00000353174:H1744R	H	+	2	0	RYR2	235844288	1.000000	0.71417	0.980000	0.43619	0.798000	0.45092	9.287000	0.95975	2.073000	0.62155	0.528000	0.53228	CAC		PASS	0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	101	8	101	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237870500	237870500	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:237870500G>C	ENST00000366574.2	+	68	10149	c.9832G>C	c.(9832-9834)Ggg>Cgg	p.G3278R	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.G3276R|RYR2_ENST00000542537.1_Missense_Mutation_p.G3262R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3278					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.G3276R(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)			CACACTTCTAGGGAACATATT	0.478																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9832-9834)GGG>CGG		cardiac muscle ryanodine receptor							42.0	41.0	41.0					1																	237870500		1941	4141	6082	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.chr1:237870500G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9832G>C	1.37:g.237870500G>C	ENSP00000355533:p.Gly3278Arg					RYR2_uc010pxz.1_Missense_Mutation_p.G233R	p.G3278R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9952	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3278					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9832G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425163	0.83667	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96685	-0.23;-4.09;-0.23	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	D	0.97362	0.9137	L	0.61036	1.89	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	D	0.96352	0.9259	10	0.33940	T	0.23	-13.0248	19.8946	0.96949	0.0:0.0:1.0:0.0	.	3278	Q92736	RYR2_HUMAN	R	3278;3276;3262;233	ENSP00000355533:G3278R;ENSP00000353174:G3276R;ENSP00000443798:G3262R	ENSP00000353174:G3276R	G	+	1	0	RYR2	235937123	1.000000	0.71417	0.539000	0.28077	0.879000	0.50718	9.813000	0.99286	2.711000	0.92665	0.655000	0.94253	GGG		PASS	0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	52	4	52	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247615099	247615100	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:247615099_247615100GG>TT	ENST00000318749.6	-	1	208_209	c.185_186CC>AA	c.(184-186)cCC>cAA	p.P62Q		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P62P(1)|p.P62Q(1)|p.P62H(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGATGTACATGGGGCTGTGGAG	0.574																																						uc010pyx.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	upper_aerodigestive_tract(1)	1						c.(184-186)CCC>CCA|c.(184-186)CCC>CAC		olfactory receptor, family 2, subfamily B,																																				SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247615099G>T|g.chr1:247615100G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.185_186delinsTT	1.37:g.247615099_247615100delinsTT	ENSP00000325682:p.Pro62Gln						p.P62P|p.P62H	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	186|185	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	62			Helical; Name=2; (Potential).		B2RP03	Silent|Missense_Mutation	SNP	ENST00000318749.6	37	c.186C>A|c.185C>A	CCDS31090.1																																																																																				PASS	0.574	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		149|148	168|166	148	166	---	---	---	---
ZNF692	55657	broad.mit.edu	37	1	249152384	249152384	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr1:249152384T>C	ENST00000306601.4	-	2	291	c.125A>G	c.(124-126)aAg>aGg	p.K42R	ZNF692_ENST00000366471.3_Missense_Mutation_p.K42R|ZNF692_ENST00000366469.5_Missense_Mutation_p.K42R|ZNF692_ENST00000427146.1_Missense_Mutation_p.K42R|ZNF692_ENST00000468455.1_5'Flank|ZNF692_ENST00000391820.3_Missense_Mutation_p.K42R|ZNF692_ENST00000451251.1_Missense_Mutation_p.K47R|AL672294.1_ENST00000417047.1_RNA	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	42					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.K42R(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCCGCTCCTTGAGGAGGCA	0.701																																						uc001ifc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)AAG>AGG		zinc finger protein 692 isoform 2							13.0	15.0	14.0					1																	249152384		2138	4191	6329	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249152384T>C	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.125A>G	1.37:g.249152384T>C	ENSP00000305483:p.Lys42Arg					ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'Flank|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.K42R|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.K42R|ZNF692_uc010pzr.1_Missense_Mutation_p.K47R	p.K42R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		2	292	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	42					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.125A>G	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609506	0.87258	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251;ENST00000496231;ENST00000391820	T;T;T;T;T	0.28069	1.66;1.74;1.74;1.63;1.63	4.48	3.34	0.38264	.	0.118857	0.37857	N	0.001901	T	0.29256	0.0728	M	0.67953	2.075	0.33993	D	0.649319	B;B;B	0.23540	0.053;0.087;0.053	B;B;B	0.20384	0.013;0.029;0.013	T	0.37842	-0.9688	10	0.87932	D	0	-32.4468	6.7287	0.23371	0.0:0.1077:0.0:0.8923	.	47;42;42	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	R	42;42;42;42;42;47;42;42	ENSP00000305483:K42R;ENSP00000390044:K42R;ENSP00000355427:K42R;ENSP00000355425:K42R;ENSP00000391200:K47R	ENSP00000305483:K42R	K	-	2	0	ZNF692	247119007	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.311000	0.43717	0.854000	0.35336	0.523000	0.50628	AAG		PASS	0.701	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		26	20	26	20	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15449304	15449304	+	Silent	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:15449304G>T	ENST00000281513.5	-	39	4675	c.4650C>A	c.(4648-4650)gcC>gcA	p.A1550A	NBAS_ENST00000441750.1_Silent_p.A1430A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1550					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A1550A(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTGTGGTAAGGCAAGAAGGT	0.358																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(4648-4650)GCC>GCA		neuroblastoma-amplified protein							134.0	122.0	126.0					2																	15449304		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15449304G>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4650C>A	2.37:g.15449304G>T						NBAS_uc010exl.1_Silent_p.A622A|NBAS_uc002rcd.1_RNA	p.A1550A	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			39	4676	-			1550					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.4650C>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234129	0.22626	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.77	2.71	0.32032	.	.	.	.	.	T	0.47116	0.1428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33085	-0.9882	4	.	.	.	.	4.0828	0.09934	0.2053:0.0:0.5064:0.2883	.	.	.	.	H	598	.	.	P	-	2	0	NBAS	15366755	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.030000	0.30153	0.701000	0.31803	0.655000	0.94253	CCT		PASS	0.358	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		12	84	12	84	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17963069	17963069	+	Nonsense_Mutation	SNP	G	G	T	rs376402032		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:17963069G>T	ENST00000381254.2	+	14	2804	c.2590G>T	c.(2590-2592)Gaa>Taa	p.E864*	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Nonsense_Mutation_p.E864*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	864					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E864*(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAAAATGAAGAAAGCTGTTT	0.363								Homologous recombination																														uc002rct.2																			1	Substitution - Nonsense(1)		lung(1)	breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(2590-2592)GAA>TAA	Homologous_recombination	Gen homolog 1, endonuclease							43.0	45.0	44.0					2																	17963069		2203	4300	6503	SO:0001587	stop_gained	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17963069G>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2590G>T	2.37:g.17963069G>T	ENSP00000370653:p.Glu864*					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Nonsense_Mutation_p.E864*|GEN1_uc002rcu.2_Nonsense_Mutation_p.E864*	p.E864*	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			14	2663	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		864					Q17RS9|Q6ZN37	Nonsense_Mutation	SNP	ENST00000381254.2	37	c.2590G>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	38	7.082972	0.98051	.	.	ENSG00000178295	ENST00000317402;ENST00000381254	.	.	.	5.56	2.69	0.31865	.	0.565366	0.16147	N	0.227451	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.5043	5.7094	0.17927	0.2156:0.2711:0.5133:0.0	.	.	.	.	X	864	.	ENSP00000318977:E864X	E	+	1	0	GEN1	17826550	0.048000	0.20356	0.632000	0.29296	0.695000	0.40330	0.604000	0.24164	0.788000	0.33755	0.655000	0.94253	GAA		PASS	0.363	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		13	132	13	132	---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26501540	26501540	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:26501540G>A	ENST00000317799.5	+	8	605	c.501G>A	c.(499-501)ttG>ttA	p.L167L	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Silent_p.L145L|HADHB_ENST00000537713.1_Silent_p.L152L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	167					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.L167L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTTGAGTTGATGTCCGATG	0.438																																						uc002rgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(499-501)TTG>TTA		mitochondrial trifunctional protein, beta							238.0	225.0	229.0					2																	26501540		2203	4300	6503	SO:0001819	synonymous_variant	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26501540G>A		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.501G>A	2.37:g.26501540G>A						HADHB_uc010ykv.1_Silent_p.L145L|HADHB_uc010ykw.1_Silent_p.L152L|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Silent_p.L93L	p.L167L	NM_000183	NP_000174	P55084	ECHB_HUMAN			8	752	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		167					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	ENST00000317799.5	37	c.501G>A	CCDS1722.1																																																																																				PASS	0.438	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		19	142	19	142	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32832622	32832622	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:32832622C>T	ENST00000421745.2	+	72	14305	c.14171C>T	c.(14170-14172)tCt>tTt	p.S4724F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4724					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S4696F(1)|p.S4724F(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACACAGAGTTCTCGAGAATAT	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(14170-14172)TCT>TTT		baculoviral IAP repeat-containing 6							167.0	164.0	165.0					2																	32832622		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832622C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14171C>T	2.37:g.32832622C>T	ENSP00000393596:p.Ser4724Phe						p.S4724F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			72	14305	+	Acute lymphoblastic leukemia(172;0.155)		4724					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.14171C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	33	5.202845	0.94997	.	.	ENSG00000115760	ENST00000421745	T	0.39056	1.1	5.52	5.52	0.82312	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.115939	0.64402	D	0.000010	T	0.74397	0.3711	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81044	-0.1111	10	0.87932	D	0	.	19.4363	0.94796	0.0:1.0:0.0:0.0	.	4724	Q9NR09	BIRC6_HUMAN	F	4724	ENSP00000393596:S4724F	ENSP00000393596:S4724F	S	+	2	0	BIRC6	32686126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.573000	0.86826	0.585000	0.79938	TCT		PASS	0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		43	303	43	303	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39249797	39249797	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:39249797T>C	ENST00000426016.1	-	11	1858	c.1772A>G	c.(1771-1773)aAc>aGc	p.N591S	SOS1_ENST00000395038.2_Missense_Mutation_p.N591S|SOS1_ENST00000402219.2_Missense_Mutation_p.N591S|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	591					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N591S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GGGCTGCATGTTCTCTTCAAA	0.403									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1771-1773)AAC>AGC		son of sevenless homolog 1							104.0	104.0	104.0					2																	39249797		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39249797T>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1772A>G	2.37:g.39249797T>C	ENSP00000387784:p.Asn591Ser					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.N205S|SOS1_uc002rrl.2_Missense_Mutation_p.N323S	p.N591S	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1813	-		all_hematologic(82;0.21)	591					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1772A>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.700492	0.30142	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.28454	1.61;1.61;1.61	5.69	5.69	0.88448	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	L	0.36672	1.1	0.80722	D	1	B;B	0.18013	0.006;0.025	B;B	0.22753	0.009;0.041	T	0.03060	-1.1077	10	0.38643	T	0.18	.	15.95	0.79827	0.0:0.0:0.0:1.0	.	323;591	F5GX06;Q07889	.;SOS1_HUMAN	S	591;591;323;591;591	ENSP00000387784:N591S;ENSP00000384675:N591S;ENSP00000378479:N591S	ENSP00000263879:N591S	N	-	2	0	SOS1	39103301	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	3.378000	0.52432	2.164000	0.68074	0.455000	0.32223	AAC		PASS	0.403	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		32	266	32	266	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54893114	54893114	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:54893114A>C	ENST00000356805.4	+	34	7003	c.6722A>C	c.(6721-6723)aAg>aCg	p.K2241T		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2241	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.K2241T(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAAGATGCAAAGACTGCTGCT	0.433																																						uc002rxu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(6721-6723)AAG>ACG		spectrin, beta, non-erythrocytic 1 isoform 1							140.0	140.0	140.0					2																	54893114		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54893114A>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6722A>C	2.37:g.54893114A>C	ENSP00000349259:p.Lys2241Thr					SPTBN1_uc010you.1_Missense_Mutation_p.K231T	p.K2241T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		34	6971	+			2241			PH.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6722A>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547428	0.86022	.	.	ENSG00000115306	ENST00000356805	T	0.37752	1.18	5.82	5.82	0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.64449	-0.6405	10	0.87932	D	0	.	16.1832	0.81925	1.0:0.0:0.0:0.0	.	231;2241	B4DIF8;Q01082	.;SPTB2_HUMAN	T	2241	ENSP00000349259:K2241T	ENSP00000349259:K2241T	K	+	2	0	SPTBN1	54746618	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.464000	0.80887	2.218000	0.71995	0.533000	0.62120	AAG		PASS	0.433	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			65	418	65	418	---	---	---	---
IGKV1-6	28943	broad.mit.edu	37	2	89266047	89266047	+	RNA	SNP	A	A	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:89266047A>T	ENST00000464162.1	-	0	113									immunoglobulin kappa variable 1-6																		GAGGATGGAGACTGGGTCATC	0.463																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							151.0	141.0	144.0					2																	89266047		1903	4103	6006			0							g.chr2:89266047A>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89266047A>T						uc002stl.2_Intron								95		-									RNA	SNP	ENST00000464162.1	37	c.7519T>A																																																																																					PASS	0.463	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		52	359	52	359	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100210203	100210203	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:100210203C>G	ENST00000409236.2	-	13	2032	c.1920G>C	c.(1918-1920)gaG>gaC	p.E640D	AFF3_ENST00000317233.4_Missense_Mutation_p.E640D|AFF3_ENST00000356421.2_Missense_Mutation_p.E665D|AFF3_ENST00000409579.1_Missense_Mutation_p.E665D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	640					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E665D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGGAGCGCAGCTCCTTGCGGT	0.657																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1918-1920)GAG>GAC		AF4/FMR2 family, member 3 isoform 1							43.0	48.0	46.0					2																	100210203		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210203C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1920G>C	2.37:g.100210203C>G	ENSP00000387207:p.Glu640Asp					AFF3_uc002taf.2_Missense_Mutation_p.E665D|AFF3_uc010fiq.1_Missense_Mutation_p.E640D|AFF3_uc010yvr.1_Missense_Mutation_p.E793D|AFF3_uc002tah.1_Missense_Mutation_p.E665D	p.E640D	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2156	-			640					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1920G>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323956	0.60634	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.74	2.88	0.33553	.	0.510900	0.17776	N	0.162421	T	0.81531	0.4842	L	0.54323	1.7	0.29871	N	0.826807	P;D;P	0.63880	0.943;0.993;0.93	P;P;P	0.62740	0.838;0.906;0.705	T	0.75465	-0.3308	10	0.49607	T	0.09	.	8.8274	0.35063	0.0:0.7511:0.0:0.2489	.	793;640;665	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	D	640;665;665;640;640;793;665	ENSP00000317421:E640D;ENSP00000348793:E665D;ENSP00000386834:E665D;ENSP00000387207:E640D	ENSP00000317421:E640D	E	-	3	2	AFF3	99576635	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	-0.504000	0.06375	1.126000	0.42016	0.462000	0.41574	GAG		PASS	0.657	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		19	111	19	111	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128466368	128466368	+	Missense_Mutation	SNP	C	C	T	rs371332180		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:128466368C>T	ENST00000322313.4	-	21	3822	c.3664G>A	c.(3664-3666)Ggc>Agc	p.G1222S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1222					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G1222S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATGTCCATGCCTTGGAGAGAA	0.602																																						uc002tpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3664-3666)GGC>AGC		WD repeat domain 33 isoform 1							81.0	79.0	80.0					2																	128466368		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128466368C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3664G>A	2.37:g.128466368C>T	ENSP00000325377:p.Gly1222Ser						p.G1222S	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	21	3847	-	Colorectal(110;0.1)		1222					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3664G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.733294	0.96865	.	.	ENSG00000136709	ENST00000322313	D	0.97529	-4.42	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98554	1.0638	10	0.87932	D	0	-5.6248	19.5351	0.95247	0.0:1.0:0.0:0.0	.	1222	Q9C0J8	WDR33_HUMAN	S	1222	ENSP00000325377:G1222S	ENSP00000325377:G1222S	G	-	1	0	WDR33	128182838	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.640000	0.89533	0.655000	0.94253	GGC		PASS	0.602	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		21	118	21	118	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135012094	135012094	+	Silent	SNP	T	T	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:135012094T>G	ENST00000409645.1	+	2	372	c.120T>G	c.(118-120)ccT>ccG	p.P40P	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Silent_p.P40P			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	40					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.P40P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GAACTCAGCCTGAAAGCAGCT	0.517																																						uc002ttv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(118-120)CCT>CCG		N-acetylglucosaminyltransferase V							115.0	102.0	106.0					2																	135012094		2203	4300	6503	SO:0001819	synonymous_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135012094T>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.120T>G	2.37:g.135012094T>G							p.P40P	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	1	265	+			40			Lumenal (Potential).		D3DP70	Silent	SNP	ENST00000409645.1	37	c.120T>G	CCDS2171.1																																																																																				PASS	0.517	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		8	57	8	57	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136570015	136570015	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:136570015G>A	ENST00000264162.2	-	7	2229	c.2219C>T	c.(2218-2220)tCc>tTc	p.S740F	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	740	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S740F(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)	GTATTCCAGGGATACAAACTG	0.498																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(2218-2220)TCC>TTC		lactase-phlorizin hydrolase preproprotein							93.0	95.0	94.0					2																	136570015		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570015G>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.2219C>T	2.37:g.136570015G>A	ENSP00000264162:p.Ser740Phe						p.S740F	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2230	-			740			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2219C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563926	0.45694	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51817	0.69	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.057451	0.64402	D	0.000001	T	0.53642	0.1809	M	0.73430	2.235	0.38161	D	0.939025	B	0.24618	0.107	B	0.35413	0.202	T	0.53872	-0.8377	10	0.28530	T	0.3	-30.2772	14.5833	0.68308	0.0:0.0:0.854:0.146	.	740	P09848	LPH_HUMAN	F	740;172	ENSP00000264162:S740F	ENSP00000264162:S740F	S	-	2	0	LCT	136286485	1.000000	0.71417	0.939000	0.37840	0.974000	0.67602	3.880000	0.56145	2.666000	0.90696	0.655000	0.94253	TCC		PASS	0.498	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		34	169	34	169	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152512352	152512352	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:152512352C>T	ENST00000172853.10	-	50	6828	c.6681G>A	c.(6679-6681)caG>caA	p.Q2227Q	NEB_ENST00000409198.1_Silent_p.Q2227Q|NEB_ENST00000427231.2_Silent_p.Q2227Q|NEB_ENST00000604864.1_Silent_p.Q2227Q|NEB_ENST00000397345.3_Silent_p.Q2227Q|NEB_ENST00000603639.1_Silent_p.Q2227Q			P20929	NEBU_HUMAN	nebulin	2227					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q2227Q(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATGTGCATTCTGCTTGGCAA	0.493																																						uc010fnx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(6679-6681)CAG>CAA		nebulin isoform 3							154.0	148.0	150.0					2																	152512352		2020	4188	6208	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512352C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6681G>A	2.37:g.152512352C>T							p.Q2227Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	50	6872	-			2227			Nebulin 59.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.6681G>A																																																																																					PASS	0.493	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		34	205	34	205	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152527701	152527701	+	Missense_Mutation	SNP	C	C	T	rs200002537		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:152527701C>T	ENST00000172853.10	-	38	4489	c.4342G>A	c.(4342-4344)Gga>Aga	p.G1448R	NEB_ENST00000409198.1_Missense_Mutation_p.G1448R|NEB_ENST00000427231.2_Missense_Mutation_p.G1448R|NEB_ENST00000604864.1_Missense_Mutation_p.G1448R|NEB_ENST00000397345.3_Missense_Mutation_p.G1448R|NEB_ENST00000603639.1_Missense_Mutation_p.G1448R			P20929	NEBU_HUMAN	nebulin	1448					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G1448R(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGATCCATCCGATGCCCTTC	0.438																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(4342-4344)GGA>AGA		nebulin isoform 3							114.0	106.0	109.0					2																	152527701		1927	4132	6059	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152527701C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4342G>A	2.37:g.152527701C>T	ENSP00000172853:p.Gly1448Arg						p.G1448R	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	38	4533	-			1448			Nebulin 37.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4342G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.305498	0.95601	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10860	2.86;2.84;2.83;2.87	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54768	-0.8244	10	0.87932	D	0	.	19.1951	0.93684	0.0:1.0:0.0:0.0	.	1448	P20929	NEBU_HUMAN	R	1448	ENSP00000386259:G1448R;ENSP00000380505:G1448R;ENSP00000416578:G1448R;ENSP00000172853:G1448R	ENSP00000172853:G1448R	G	-	1	0	NEB	152235947	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.703000	0.84585	2.691000	0.91804	0.655000	0.94253	GGA		PASS	0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	89	13	89	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160303431	160303431	+	Silent	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:160303431T>C	ENST00000392783.2	-	6	1053	c.558A>G	c.(556-558)acA>acG	p.T186T	BAZ2B_ENST00000392782.1_Silent_p.T184T|BAZ2B_ENST00000355831.2_Silent_p.T186T|BAZ2B_ENST00000343439.5_Silent_p.T184T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	186	Ser-rich.				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.T186T(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						ATAGTACAGATGTGTTGATAC	0.333																																						uc002uao.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(556-558)ACA>ACG		bromodomain adjacent to zinc finger domain, 2B							141.0	140.0	140.0					2																	160303431		1854	4106	5960	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160303431T>C	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.558A>G	2.37:g.160303431T>C						BAZ2B_uc002uap.2_Silent_p.T184T|BAZ2B_uc002uas.1_Silent_p.T123T|BAZ2B_uc002uau.1_Silent_p.T184T|BAZ2B_uc002uaq.1_Silent_p.T114T|BAZ2B_uc002uat.3_Silent_p.T123T|BAZ2B_uc010fop.1_Silent_p.T184T	p.T186T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			6	910	-			186			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.558A>G	CCDS2209.2																																																																																				PASS	0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			42	154	42	154	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166788360	166788360	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:166788360T>A	ENST00000243344.7	-	8	939	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	268					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.T268S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCCAGCTTGGTGGAAGCCTAA	0.368																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(802-804)ACC>TCC		tetratricopeptide repeat domain 21B							115.0	105.0	108.0					2																	166788360		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166788360T>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.802A>T	2.37:g.166788360T>A	ENSP00000243344:p.Thr268Ser					TTC21B_uc002udl.2_Missense_Mutation_p.T268S|uc002udm.1_5'Flank	p.T268S	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			8	935	-			268					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.802A>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	0.045	-1.268964	0.01433	.	.	ENSG00000123607	ENST00000243344	T	0.50001	0.76	5.48	-2.46	0.06461	Tetratricopeptide-like helical (1);	0.808960	0.11771	N	0.531104	T	0.19886	0.0478	N	0.12746	0.255	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.08055	0.003;0.001	T	0.26608	-1.0098	10	0.08179	T	0.78	-0.3644	4.5639	0.12173	0.2916:0.3352:0.0:0.3732	.	268;268	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	S	268	ENSP00000243344:T268S	ENSP00000243344:T268S	T	-	1	0	TTC21B	166496606	0.028000	0.19301	0.088000	0.20740	0.085000	0.17905	-0.318000	0.08050	-0.405000	0.07599	-0.256000	0.11100	ACC		PASS	0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		14	75	14	75	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179473085	179473085	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:179473085G>C	ENST00000591111.1	-	225	47826	c.47602C>G	c.(47602-47604)Cgt>Ggt	p.R15868G	TTN_ENST00000359218.5_Missense_Mutation_p.R8569G|TTN_ENST00000460472.2_Missense_Mutation_p.R8444G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8636G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14941G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17509G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15868	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R14941G(2)|p.R8636G(1)|p.R8569G(1)|p.R8444G(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)			TTAACTTCACGTTTTTCAAGC	0.408																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44821-44823)CGT>GGT		titin isoform N2-A							56.0	51.0	52.0					2																	179473085		1876	4115	5991	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179473085G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47602C>G	2.37:g.179473085G>C	ENSP00000465570:p.Arg15868Gly					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8636G|TTN_uc010zfi.1_Missense_Mutation_p.R8569G|TTN_uc010zfj.1_Missense_Mutation_p.R8444G	p.R14941G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		224	45045	-			15868					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44821C>G		.	.	.	.	.	.	.	.	.	.	G	13.36	2.212867	0.39102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77844	0.4191	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79225	-0.1891	9	0.87932	D	0	.	19.8731	0.96858	0.0:0.0:1.0:0.0	.	8444;8569;8636;15868	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	14941;8444;8636;8569;8444	ENSP00000343764:R14941G;ENSP00000434586:R8444G;ENSP00000340554:R8636G;ENSP00000352154:R8569G	ENSP00000340554:R8636G	R	-	1	0	TTN	179181330	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.549000	0.73900	2.699000	0.92147	0.563000	0.77884	CGT		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	34	7	34	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604796	179604796	+	Silent	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:179604796T>A	ENST00000591111.1	-	46	12437	c.12213A>T	c.(12211-12213)ccA>ccT	p.P4071P	TTN_ENST00000359218.5_Silent_p.P4150P|TTN_ENST00000460472.2_Silent_p.P4025P|TTN_ENST00000342175.6_Silent_p.P4217P|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.P4388P			Q8WZ42	TITIN_HUMAN	titin	0					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.P4150P(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)			TCTGCTCTTCTGGAATACCAG	0.463																																						uc010zfh.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.(12649-12651)CCA>CCT		titin isoform novex-2							52.0	51.0	52.0					2																	179604796		1839	4091	5930	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604796T>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.12213A>T	2.37:g.179604796T>A						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.P4150P|TTN_uc010zfj.1_Silent_p.P4025P|TTN_uc002umz.1_Intron	p.P4217P	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12875	-			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.12651A>T																																																																																					PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	135	21	135	---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198358950	198358950	+	Silent	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:198358950A>G	ENST00000388968.3	-	6	898	c.631T>C	c.(631-633)Tta>Cta	p.L211L	HSPD1_ENST00000345042.2_Silent_p.L211L	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	211					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.L211L(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATAATTTCTAATTCATCATTC	0.279																																						uc002uui.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)TTA>CTA		chaperonin							33.0	36.0	35.0					2																	198358950		2202	4289	6491	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198358950A>G	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.631T>C	2.37:g.198358950A>G						HSPD1_uc002uuj.2_Silent_p.L209L|HSPD1_uc010zgx.1_Silent_p.L202L|HSPD1_uc010fsm.2_Silent_p.L22L|HSPD1_uc002uuk.2_Silent_p.L211L	p.L211L	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		6	768	-			211					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.631T>C	CCDS33357.1																																																																																				PASS	0.279	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		13	87	13	87	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211460215	211460215	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:211460215C>T	ENST00000233072.5	+	13	1464	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.S429F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	423					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.S423F(1)|p.S429F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTATAGGTTTCCAAAGTCCTT	0.393																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1267-1269)TCC>TTC		carbamoyl-phosphate synthetase 1 isoform b							141.0	156.0	151.0					2																	211460215		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211460215C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1268C>T	2.37:g.211460215C>T	ENSP00000233072:p.Ser423Phe					CPS1_uc010fur.2_Missense_Mutation_p.S429F|CPS1_uc010fus.2_5'UTR	p.S423F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	13	1400	+			423					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1268C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606394	0.87157	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.97598	-4.45;-4.45	5.81	5.81	0.92471	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	L	0.55990	1.75	0.80722	D	1	P;P	0.47545	0.897;0.897	P;P	0.55455	0.776;0.776	D	0.97976	1.0346	10	0.87932	D	0	1.1944	20.0755	0.97742	0.0:1.0:0.0:0.0	.	433;423	Q59HF8;P31327	.;CPSM_HUMAN	F	429;431;423;423	ENSP00000402608:S429F;ENSP00000233072:S423F	ENSP00000233072:S423F	S	+	2	0	CPS1	211168460	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.487000	0.81328	2.749000	0.94314	0.460000	0.39030	TCC		PASS	0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			49	254	49	254	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882388	228882388	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:228882388G>A	ENST00000392056.3	-	7	3228	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1061						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A1061V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAGCCCTGCGCCTGCCACAT	0.557																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3181-3183)GCG>GTG		sphingosine kinase type 1-interacting protein							58.0	59.0	59.0					2																	228882388		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882388G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3182C>T	2.37:g.228882388G>A	ENSP00000375909:p.Ala1061Val					SPHKAP_uc002vpp.2_Missense_Mutation_p.A1061V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A1061V	p.A1061V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3229	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1061					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3182C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134160	0.56828	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13089	2.62;2.63	6.08	3.07	0.35406	.	0.334401	0.34828	N	0.003651	T	0.12944	0.0314	N	0.14661	0.345	0.26935	N	0.966371	P;P;D	0.58268	0.936;0.892;0.982	B;B;P	0.48677	0.178;0.202;0.586	T	0.09292	-1.0681	10	0.46703	T	0.11	-6.9938	16.4974	0.84249	0.0:0.5827:0.4173:0.0	.	92;1061;1061	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1061	ENSP00000375909:A1061V;ENSP00000339886:A1061V	ENSP00000339886:A1061V	A	-	2	0	SPHKAP	228590632	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	2.763000	0.47605	0.836000	0.34901	0.655000	0.94253	GCG		PASS	0.557	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		21	123	21	123	---	---	---	---
RTP5	285093	broad.mit.edu	37	2	242814310	242814310	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:242814310C>T	ENST00000343216.3	+	2	631	c.603C>T	c.(601-603)gtC>gtT	p.V201V		NM_173821.2	NP_776182.2												p.V201V(1)									GTGGCGTTGTCATCGCCATCC	0.677																																						uc010fzu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(601-603)GTC>GTT		hypothetical protein LOC285093							26.0	29.0	28.0					2																	242814310		2052	4186	6238	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242814310C>T																												ENST00000343216.3:c.603C>T	2.37:g.242814310C>T							p.V201V	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	626	+			201						Silent	SNP	ENST00000343216.3	37	c.603C>T	CCDS42843.1																																																																																				PASS	0.677	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			11	57	11	57	---	---	---	---
RTP5	285093	broad.mit.edu	37	2	242814556	242814556	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr2:242814556C>A	ENST00000343216.3	+	2	877	c.849C>A	c.(847-849)ttC>ttA	p.F283L		NM_173821.2	NP_776182.2												p.F283L(1)									TCCAGACCTTCGAGCTCAAGG	0.677																																						uc010fzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)TTC>TTA		hypothetical protein LOC285093							43.0	49.0	47.0					2																	242814556		1920	4129	6049	SO:0001583	missense	285093					integral to membrane		g.chr2:242814556C>A																												ENST00000343216.3:c.849C>A	2.37:g.242814556C>A	ENSP00000345374:p.Phe283Leu						p.F283L	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	872	+			283						Missense_Mutation	SNP	ENST00000343216.3	37	c.849C>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720582	0.48728	.	.	ENSG00000188011	ENST00000343216	T	0.24908	1.83	2.7	-0.915	0.10494	.	.	.	.	.	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	1	P	0.42620	0.785	B	0.35770	0.21	T	0.23190	-1.0195	9	0.09338	T	0.73	-14.508	5.647	0.17594	0.0:0.4472:0.0:0.5528	.	283	Q14D33	CB085_HUMAN	L	283	ENSP00000345374:F283L	ENSP00000345374:F283L	F	+	3	2	C2orf85	242463229	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.653000	0.01986	-0.194000	0.10399	0.450000	0.29827	TTC		PASS	0.677	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			27	139	27	139	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36896951	36896951	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:36896951A>C	ENST00000429976.2	-	12	4377	c.4130T>G	c.(4129-4131)cTg>cGg	p.L1377R	TRANK1_ENST00000428977.2_Missense_Mutation_p.L827R|TRANK1_ENST00000301807.6_Missense_Mutation_p.L827R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1377							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.L827R(2)|p.L1377R(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGCTTCGACAGCCTCCGGGA	0.502																																						uc003cgj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(2479-2481)CTG>CGG		lupus brain antigen 1							124.0	126.0	125.0					3																	36896951		2051	4190	6241	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896951A>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4130T>G	3.37:g.36896951A>C	ENSP00000416168:p.Leu1377Arg						p.L827R	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2782	-			1377					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2480T>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239591	0.58995	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.86230	-2.09;-2.09;-2.09	5.06	5.06	0.68205	.	0.000000	0.46442	D	0.000294	D	0.93635	0.7967	M	0.82823	2.61	0.48830	D	0.99971	D	0.89917	1.0	D	0.91635	0.999	D	0.94572	0.7772	10	0.87932	D	0	.	15.5226	0.75875	1.0:0.0:0.0:0.0	.	1377	O15050	TRNK1_HUMAN	R	827;1377;827	ENSP00000416826:L827R;ENSP00000416168:L1377R;ENSP00000301807:L827R	ENSP00000301807:L827R	L	-	2	0	TRANK1	36871955	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.124000	0.77185	2.208000	0.71279	0.459000	0.35465	CTG		PASS	0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		101	231	101	231	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36898598	36898598	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:36898598G>A	ENST00000429976.2	-	12	2730	c.2483C>T	c.(2482-2484)aCc>aTc	p.T828I	TRANK1_ENST00000428977.2_Missense_Mutation_p.T278I|TRANK1_ENST00000301807.6_Missense_Mutation_p.T278I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	828							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.T278I(2)|p.T828I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGGCCCTGGGTCCACTCGCC	0.512																																						uc003cgj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(832-834)ACC>ATC		lupus brain antigen 1							90.0	88.0	89.0					3																	36898598		1994	4166	6160	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898598G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2483C>T	3.37:g.36898598G>A	ENSP00000416168:p.Thr828Ile						p.T278I	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	1135	-			828					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.833C>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930763	0.52866	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34667	1.35;1.78;1.35	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000004	T	0.46308	0.1386	N	0.20986	0.625	0.46725	D	0.999173	D	0.71674	0.998	D	0.64687	0.928	T	0.28073	-1.0055	10	0.33940	T	0.23	.	19.7955	0.96478	0.0:0.0:1.0:0.0	.	828	O15050	TRNK1_HUMAN	I	278;828;278	ENSP00000416826:T278I;ENSP00000416168:T828I;ENSP00000301807:T278I	ENSP00000301807:T278I	T	-	2	0	TRANK1	36873602	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.589000	0.67523	2.768000	0.95171	0.561000	0.74099	ACC		PASS	0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		36	177	36	177	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41280628	41280628	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:41280628C>G	ENST00000349496.5	+	15	2421	c.2141C>G	c.(2140-2142)cCt>cGt	p.P714R	CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P714R|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P714R|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P714R|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P707R	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	714					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P714R(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTTCTAGATCCTAGCTATCGT	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	1	Substitution - Missense(1)		lung(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(2140-2142)CCT>CGT		beta-catenin	Lithium(DB01356)						95.0	85.0	89.0					3																	41280628		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280628C>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2141C>G	3.37:g.41280628C>G	ENSP00000344456:p.Pro714Arg					CTNNB1_uc003ckp.2_Missense_Mutation_p.P714R|CTNNB1_uc003ckq.2_Missense_Mutation_p.P714R|CTNNB1_uc003ckr.2_Missense_Mutation_p.P714R|CTNNB1_uc011azf.1_Missense_Mutation_p.P707R|CTNNB1_uc011azg.1_Missense_Mutation_p.P642R	p.P714R	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	16	2297	+			714					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2141C>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215193	0.39102	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.68	5.68	0.88126	.	0.203897	0.51477	D	0.000093	T	0.51618	0.1685	M	0.68317	2.08	0.80722	D	1	B;B	0.32010	0.0;0.351	B;B	0.35727	0.001;0.209	T	0.45323	-0.9269	10	0.20046	T	0.44	-11.4248	19.7949	0.96477	0.0:1.0:0.0:0.0	.	642;714	B4DSW9;P35222	.;CTNB1_HUMAN	R	714;714;714;707;714	ENSP00000385604:P714R;ENSP00000379486:P714R;ENSP00000344456:P714R;ENSP00000411226:P707R;ENSP00000379488:P714R	ENSP00000344456:P714R	P	+	2	0	CTNNB1	41255632	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.679000	0.91253	0.557000	0.71058	CCT		PASS	0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		52	148	52	148	---	---	---	---
HIGD1A	25994	broad.mit.edu	37	3	42827622	42827622	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:42827622C>T	ENST00000321331.7	-	3	247	c.130G>A	c.(130-132)Gga>Aga	p.G44R	HIGD1A_ENST00000418900.2_Missense_Mutation_p.G44R|HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000430190.1_Missense_Mutation_p.G44R|HIGD1A_ENST00000452906.2_Missense_Mutation_p.G58R	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	44	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)		p.G44R(1)		lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTATATAATCCATATGCAACA	0.413																																						uc003cma.3																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)GGA>AGA		HIG1 domain family, member 1A isoform b							65.0	61.0	62.0					3																	42827622		1862	4107	5969	SO:0001583	missense	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42827622C>T	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"""hypoxia inducible gene 1"""		"""HIG1 domain family, member 1A"""			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.130G>A	3.37:g.42827622C>T	ENSP00000319393:p.Gly44Arg					HIGD1A_uc010hid.2_Missense_Mutation_p.G58R|HIGD1A_uc003cmb.3_Missense_Mutation_p.G44R	p.G44R	NM_001099669	NP_001093139	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	3	276	-			44			Helical; (Potential).|HIG1.		Q9UFZ2	Missense_Mutation	SNP	ENST00000321331.7	37	c.130G>A	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422345	0.62622	.	.	ENSG00000181061	ENST00000321331;ENST00000418900;ENST00000430190;ENST00000452906	T;T;T	0.36520	1.29;1.29;1.25	4.73	4.73	0.59995	Hypoxia induced protein, domain (2);	0.098909	0.64402	D	0.000001	T	0.50171	0.1600	.	.	.	0.47037	D	0.999291	P;P	0.51057	0.927;0.941	P;P	0.55055	0.767;0.651	T	0.44159	-0.9346	9	0.39692	T	0.17	-3.1015	15.5624	0.76258	0.0:1.0:0.0:0.0	.	58;44	Q9Y241-2;Q9Y241	.;HIG1A_HUMAN	R	44;44;44;58	ENSP00000319393:G44R;ENSP00000402160:G44R;ENSP00000398064:G58R	ENSP00000319393:G44R	G	-	1	0	HIGD1A	42802626	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	4.084000	0.57650	2.611000	0.88343	0.591000	0.81541	GGA		PASS	0.413	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		14	123	14	123	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48612109	48612109	+	Splice_Site	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:48612109C>T	ENST00000328333.8	-	77	6501		c.e77+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAGGCCTCACCCTGTCTCCT	0.632																																						uc003ctz.2																			2	Unknown(2)		lung(2)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.e77+1		alpha 1 type VII collagen precursor							75.0	79.0	78.0					3																	48612109		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612109C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6393+1G>A	3.37:g.48612109C>T							p.R2131_splice	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	77	6394	-								Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.6393_splice	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516627	0.64634	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9122	0.88937	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48587113	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	4.555000	0.60767	2.456000	0.83038	0.462000	0.41574	.		PASS	0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	59	121	59	121	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74413659	74413659	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:74413659T>C	ENST00000263665.6	-	9	1199	c.1172A>G	c.(1171-1173)aAa>aGa	p.K391R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	391	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K391I(1)|p.K391R(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)		AAGGCCATGTTTGTTTTCTGC	0.373																																						uc003dpm.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	breast(3)|ovary(1)|skin(1)	5						c.(1171-1173)AAA>AGA		contactin 3 precursor							195.0	175.0	182.0					3																	74413659		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74413659T>C	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.1172A>G	3.37:g.74413659T>C	ENSP00000263665:p.Lys391Arg						p.K391R	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)	9	1252	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	391			Ig-like C2-type 4.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1172A>G	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953326	0.53293	.	.	ENSG00000113805	ENST00000263665	T	0.67698	-0.28	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.31476	0.935	0.49051	D	0.999742	B	0.17038	0.02	B	0.20577	0.03	T	0.52155	-0.8613	10	0.34782	T	0.22	.	15.6214	0.76810	0.0:0.0:0.0:1.0	.	391	Q9P232	CNTN3_HUMAN	R	391	ENSP00000263665:K391R	ENSP00000263665:K391R	K	-	2	0	CNTN3	74496349	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	4.503000	0.60407	2.086000	0.62901	0.383000	0.25322	AAA		PASS	0.373	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		24	199	24	199	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74418477	74418477	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:74418477G>A	ENST00000263665.6	-	7	836	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	270	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S270F(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)		AATTTTGCTGGAAAATGGCAG	0.408																																						uc003dpm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(808-810)TCC>TTC		contactin 3 precursor							61.0	60.0	60.0					3																	74418477		2203	4299	6502	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74418477G>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.809C>T	3.37:g.74418477G>A	ENSP00000263665:p.Ser270Phe						p.S270F	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)	7	889	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	270			Ig-like C2-type 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.809C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149255	0.78001	.	.	ENSG00000113805	ENST00000263665	T	0.68903	-0.36	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.263602	0.39407	N	0.001370	T	0.70649	0.3248	L	0.37507	1.11	0.35959	D	0.834432	P	0.46457	0.878	P	0.52343	0.696	T	0.78590	-0.2145	10	0.87932	D	0	.	18.9596	0.92673	0.0:0.0:1.0:0.0	.	270	Q9P232	CNTN3_HUMAN	F	270	ENSP00000263665:S270F	ENSP00000263665:S270F	S	-	2	0	CNTN3	74501167	1.000000	0.71417	0.466000	0.27168	0.998000	0.95712	7.136000	0.77285	2.468000	0.83385	0.591000	0.81541	TCC		PASS	0.408	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		12	169	12	169	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111686651	111686651	+	Silent	SNP	A	A	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:111686651A>C	ENST00000431670.2	+	15	3706	c.3295A>C	c.(3295-3297)Agg>Cgg	p.R1099R	PHLDB2_ENST00000393925.3_Silent_p.R1099R|PHLDB2_ENST00000481953.1_Silent_p.R1056R|PHLDB2_ENST00000393923.3_Silent_p.R1083R|PHLDB2_ENST00000412622.1_Silent_p.R1056R|PHLDB2_ENST00000495180.1_Silent_p.R590R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1099						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.R1099R(1)|p.R1083R(1)|p.R1056R(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGTAAAAATAAGGGAGAGACA	0.478											OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010hqa.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(2)	6						c.(3295-3297)AGG>CGG		pleckstrin homology-like domain, family B,							65.0	65.0	65.0					3																	111686651		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111686651A>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3295A>C	3.37:g.111686651A>C			OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	PHLDB2_uc003dyc.2_Silent_p.R1083R|PHLDB2_uc003dyd.2_Silent_p.R1056R|PHLDB2_uc003dyg.2_Silent_p.R1099R|PHLDB2_uc003dyh.2_Silent_p.R1056R|PHLDB2_uc003dyi.2_Silent_p.R590R|PHLDB2_uc003dyj.2_Silent_p.R154R	p.R1099R	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			15	3706	+			1099					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.3295A>C	CCDS46886.1																																																																																				PASS	0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		10	72	10	72	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140407246	140407246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:140407246C>A	ENST00000286349.3	+	3	1913	c.1722C>A	c.(1720-1722)taC>taA	p.Y574*		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	574						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y574*(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						TCTACACCTACTGGAGTGCTG	0.582																																						uc003eto.1																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1720-1722)TAC>TAA		tripartite motif-containing 42							75.0	75.0	75.0					3																	140407246		2203	4300	6503	SO:0001587	stop_gained	287015					intracellular	zinc ion binding	g.chr3:140407246C>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.1722C>A	3.37:g.140407246C>A	ENSP00000286349:p.Tyr574*						p.Y574*	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1913	+			574					A1L4B4|Q8N832|Q8NDL3	Nonsense_Mutation	SNP	ENST00000286349.3	37	c.1722C>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	40	7.925520	0.98565	.	.	ENSG00000155890	ENST00000286349	.	.	.	5.52	5.52	0.82312	.	0.114561	0.39544	N	0.001325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.0951	15.2891	0.73852	0.0:1.0:0.0:0.0	.	.	.	.	X	574	.	ENSP00000286349:Y574X	Y	+	3	2	TRIM42	141889936	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.947000	0.29082	2.767000	0.95098	0.655000	0.94253	TAC		PASS	0.582	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		28	178	28	178	---	---	---	---
SLC25A36	55186	broad.mit.edu	37	3	140692756	140692756	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:140692756A>C	ENST00000324194.6	+	6	819	c.651A>C	c.(649-651)gaA>gaC	p.E217D	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E217D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E191D			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	217					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.E217D(1)		endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAAATGATGAAGAGTCTGTGA	0.358																																						uc003etr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)GAA>GAC		solute carrier family 25, member 36 isoform a							68.0	69.0	68.0					3																	140692756		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692756A>C	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.651A>C	3.37:g.140692756A>C	ENSP00000320688:p.Glu217Asp					SLC25A36_uc003ets.2_Missense_Mutation_p.E217D|SLC25A36_uc003etq.2_Missense_Mutation_p.E60D|SLC25A36_uc011bmz.1_Missense_Mutation_p.E191D	p.E217D	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN			6	886	+			217					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.651A>C	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308555	0.40895	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.80033	-1.32;-1.33;-1.33	6.16	-2.07	0.07276	Mitochondrial carrier domain (2);	0.143577	0.64402	N	0.000005	T	0.64260	0.2582	L	0.48362	1.52	0.40840	D	0.983663	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.39742	-0.9599	10	0.15499	T	0.54	-9.3544	3.5858	0.07970	0.25:0.1445:0.4651:0.1404	.	191;217;217	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	217;217;191	ENSP00000401938:E217D;ENSP00000320688:E217D;ENSP00000391521:E191D	ENSP00000320688:E217D	E	+	3	2	SLC25A36	142175446	0.987000	0.35691	0.987000	0.45799	0.929000	0.56500	0.231000	0.17872	-0.264000	0.09365	0.528000	0.53228	GAA		PASS	0.358	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		26	106	26	106	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128534	147128534	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:147128534C>A	ENST00000282928.4	+	1	1364	c.635C>A	c.(634-636)gCc>gAc	p.A212D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	212					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A212D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCGCCGGCGCCTTCTTCCGC	0.627																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(634-636)GCC>GAC		zinc finger protein of the cerebellum 1							47.0	49.0	48.0					3																	147128534		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128534C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.635C>A	3.37:g.147128534C>A	ENSP00000282928:p.Ala212Asp						p.A212D	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1354	+			212					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.635C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385611	0.82792	.	.	ENSG00000152977	ENST00000282928	T	0.48836	0.8	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77011	-0.2746	10	0.87932	D	0	.	16.1009	0.81169	0.0:1.0:0.0:0.0	.	212	Q15915	ZIC1_HUMAN	D	212	ENSP00000282928:A212D	ENSP00000282928:A212D	A	+	2	0	ZIC1	148611224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.863000	0.69568	1.847000	0.53656	0.549000	0.68633	GCC		PASS	0.627	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		96	67	96	67	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907944	164907944	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:164907944C>T	ENST00000475390.1	-	2	1118	c.675G>A	c.(673-675)atG>atA	p.M225I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.M225I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	225					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.M225I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTGGAGCTCCATCAGGCTTC	0.443										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(673-675)ATG>ATA		slit and trk like 3 protein precursor							72.0	76.0	75.0					3																	164907944		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907944C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.675G>A	3.37:g.164907944C>T	ENSP00000420091:p.Met225Ile	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.M225I	p.M225I	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1119	-			225			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.675G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279498	0.59758	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.50813	0.73;0.73	5.86	5.86	0.93980	.	0.000000	0.45867	D	0.000328	T	0.65165	0.2665	L	0.50333	1.59	0.50313	D	0.999861	P	0.49559	0.925	D	0.67900	0.954	T	0.59306	-0.7479	10	0.41790	T	0.15	-24.8247	20.1755	0.98177	0.0:1.0:0.0:0.0	.	225	O94933	SLIK3_HUMAN	I	225	ENSP00000420091:M225I;ENSP00000241274:M225I	ENSP00000241274:M225I	M	-	3	0	SLITRK3	166390638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.999000	0.70665	2.779000	0.95612	0.561000	0.74099	ATG		PASS	0.443	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		21	404	21	404	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179472565	179472565	+	Missense_Mutation	SNP	G	G	T	rs374433568		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:179472565G>T	ENST00000263966.3	+	15	2315	c.1844G>T	c.(1843-1845)cGa>cTa	p.R615L	USP13_ENST00000496897.1_Missense_Mutation_p.R550L|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	615	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R615L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AACCATCTCCGAGCCAGGGGG	0.453																																						uc003fkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1843-1845)CGA>CTA		ubiquitin thiolesterase 13							130.0	129.0	129.0					3																	179472565		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179472565G>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1844G>T	3.37:g.179472565G>T	ENSP00000263966:p.Arg615Leu					USP13_uc003fkf.2_Nonsense_Mutation_p.E543*	p.R615L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		15	1925	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		615					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1844G>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519612	0.96416	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.26067	1.76;1.76;1.76	6.06	6.06	0.98353	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.03887	-1.0995	10	0.19590	T	0.45	-11.4009	20.6397	0.99537	0.0:0.0:1.0:0.0	.	615	Q92995	UBP13_HUMAN	L	615;550;261	ENSP00000263966:R615L;ENSP00000417146:R550L;ENSP00000420057:R261L	ENSP00000263966:R615L	R	+	2	0	USP13	180955259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.285000	0.78660	2.880000	0.98712	0.650000	0.86243	CGA		PASS	0.453	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			41	874	41	874	---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183368735	183368735	+	Silent	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:183368735T>C	ENST00000454652.2	+	4	977	c.591T>C	c.(589-591)gaT>gaC	p.D197D	KLHL24_ENST00000476808.1_Silent_p.D197D|KLHL24_ENST00000242810.6_Silent_p.D197D	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	197	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.D197D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTTTGAGGATGTATCCCAGC	0.358																																						uc003flv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(589-591)GAT>GAC		DRE1 protein							111.0	114.0	113.0					3																	183368735		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183368735T>C		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.591T>C	3.37:g.183368735T>C						KLHL24_uc003flw.2_Silent_p.D197D|KLHL24_uc003flx.2_Silent_p.D197D	p.D197D	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	886	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		197			BACK.		A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.591T>C	CCDS3246.1																																																																																				PASS	0.358	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		35	737	35	737	---	---	---	---
SENP2	59343	broad.mit.edu	37	3	185316310	185316310	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:185316310C>T	ENST00000296257.5	+	3	508	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.R80W	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	90					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.R90W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAATGGAACACGGAATGTGGC	0.418																																						uc003fpn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)CGG>TGG		SUMO1/sentrin/SMT3 specific protease 2							89.0	86.0	87.0					3																	185316310		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185316310C>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.268C>T	3.37:g.185316310C>T	ENSP00000296257:p.Arg90Trp					SENP2_uc011brv.1_Missense_Mutation_p.R80W|SENP2_uc011brw.1_Translation_Start_Site	p.R90W	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		3	439	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		90					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.268C>T	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469788	0.63625	.	.	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257;ENST00000437107	T;T	0.27720	1.65;1.65	5.09	2.21	0.28008	.	0.654503	0.14410	N	0.321303	T	0.17365	0.0417	N	0.14661	0.345	0.80722	D	1	D;P	0.61697	0.99;0.946	P;B	0.44477	0.451;0.333	T	0.06041	-1.0849	10	0.72032	D	0.01	-1.6925	3.6904	0.08344	0.1722:0.5712:0.1663:0.0903	.	80;90	B4DQ42;Q9HC62	.;SENP2_HUMAN	W	144;80;90;90	ENSP00000439653:R80W;ENSP00000296257:R90W	ENSP00000296257:R90W	R	+	1	2	SENP2	186799004	0.995000	0.38212	0.998000	0.56505	0.991000	0.79684	0.877000	0.28106	0.372000	0.24591	-0.188000	0.12872	CGG		PASS	0.418	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		26	481	26	481	---	---	---	---
IGF2BP2	10644	broad.mit.edu	37	3	185434530	185434530	+	Intron	SNP	C	C	T	rs528345402		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:185434530C>T	ENST00000382199.2	-	3	335				C3orf65_ENST00000296270.1_Silent_p.V121V|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2						anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCTGGCTGGTCATCAGAATGG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20264	0.0		0.0	False		,,,				2504	0.001					uc003fpr.2																			0					0						c.(361-363)GTC>GTT		RecName: Full=Putative uncharacterized protein C3orf65;							97.0	105.0	102.0					3																	185434530		2129	4242	6371	SO:0001627	intron_variant	646600							g.chr3:185434530C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.240-18395G>A	3.37:g.185434530C>T						IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpo.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron|C3orf65_uc003fps.3_Intron	p.V121V	NR_027317				OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		2	539	+	all_cancers(143;1.5e-10)|Ovarian(172;0.0386)							A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	c.363C>T	CCDS3273.2																																																																																				PASS	0.537	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		25	472	25	472	---	---	---	---
TPRG1	285386	broad.mit.edu	37	3	188933167	188933167	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:188933167G>A	ENST00000345063.3	+	3	464	c.297G>A	c.(295-297)ttG>ttA	p.L99L	TPRG1_ENST00000433971.1_Silent_p.L99L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	99						cytoplasm (GO:0005737)		p.L99L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCTGGCTCTTGACAAAGTGAG	0.493																																						uc003frv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(295-297)TTG>TTA		tumor protein p63 regulated 1							64.0	58.0	60.0					3																	188933167		2203	4300	6503	SO:0001819	synonymous_variant	285386							g.chr3:188933167G>A	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.297G>A	3.37:g.188933167G>A						TPRG1_uc003frw.1_Silent_p.L99L	p.L99L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	8	1524	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	99						Silent	SNP	ENST00000345063.3	37	c.297G>A	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316651	0.23908	.	.	ENSG00000188001	ENST00000425670	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.70789	0.3264	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68957	-0.5272	4	.	.	.	-5.8935	14.7487	0.69508	0.0:0.0:1.0:0.0	.	.	.	.	N	27	.	.	D	+	1	0	TPRG1	190415861	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.774000	0.38573	2.640000	0.89533	0.655000	0.94253	GAC		PASS	0.493	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		121	145	121	145	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						uc011bsp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CAG>GAG		hypothetical protein LOC151963							34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516720G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu						p.Q311E	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1252	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		311					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.931C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG		PASS	0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		19	172	19	172	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193183889	193183889	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:193183889G>A	ENST00000342695.4	-	11	1519	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	ATP13A4_ENST00000295548.3_Silent_p.I399I|ATP13A4_ENST00000392443.3_Silent_p.I399I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	399						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.I399I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGAGGAACCTGATGGCATCCC	0.453																																						uc003ftd.2																			2	Substitution - coding silent(2)		lung(1)|breast(1)	ovary(2)	2						c.(1195-1197)ATC>ATT		ATPase type 13A4							256.0	235.0	242.0					3																	193183889		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193183889G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1197C>T	3.37:g.193183889G>A						ATP13A4_uc003fte.1_Silent_p.I399I|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Silent_p.I105I	p.I399I	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	11	1305	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		399			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.1197C>T	CCDS3304.2																																																																																				PASS	0.453	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		104	606	104	606	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195480067	195480067	+	Silent	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr3:195480067G>T	ENST00000346145.4	-	19	2694	c.2655C>A	c.(2653-2655)tcC>tcA	p.S885S	MUC4_ENST00000475231.1_Silent_p.S5069S|MUC4_ENST00000349607.4_Silent_p.S834S|MUC4_ENST00000463781.3_Silent_p.S5121S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1878	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S5121S(1)|p.S885S(1)|p.S4993S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACAGGGCAGGACTGGTTCT	0.617																																						uc011bto.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(14977-14979)TCC>TCA		mucin 4 isoform a							124.0	122.0	123.0					3																	195480067		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195480067G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2655C>A	3.37:g.195480067G>T						MUC4_uc010hzq.2_Translation_Start_Site|MUC4_uc003fuz.2_Silent_p.S719S|MUC4_uc003fva.2_Silent_p.S601S|MUC4_uc003fvb.2_Silent_p.S637S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.S637S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.S601S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.S685S|MUC4_uc011bti.1_Silent_p.S685S|MUC4_uc011btj.1_Silent_p.S862S|MUC4_uc011btk.1_Silent_p.S601S|MUC4_uc011btl.1_Silent_p.S630S|MUC4_uc011btm.1_Silent_p.S810S|MUC4_uc011btn.1_Silent_p.S601S|MUC4_uc003fvo.2_Silent_p.S885S|MUC4_uc003fvp.2_Silent_p.S834S	p.S4993S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	21	15439	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1878			EGF-like 1.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.14979C>A	CCDS3310.1																																																																																				PASS	0.617	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		24	395	24	395	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	517609	517609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr4:517609G>A	ENST00000453061.2	+	9	2082	c.1976G>A	c.(1975-1977)tGg>tAg	p.W659*	PIGG_ENST00000504346.1_Nonsense_Mutation_p.W570*|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Nonsense_Mutation_p.W526*|PIGG_ENST00000310340.5_Nonsense_Mutation_p.W651*	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	659					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.W651*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCCAGTCCGTGGCTAATACTG	0.642																																						uc003gak.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1975-1977)TGG>TAG		phosphatidylinositol glycan anchor biosynthesis,							22.0	20.0	21.0					4																	517609		2195	4278	6473	SO:0001587	stop_gained	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:517609G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1976G>A	4.37:g.517609G>A	ENSP00000415203:p.Trp659*					PIGG_uc003gaj.3_Nonsense_Mutation_p.W651*|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Nonsense_Mutation_p.W526*|PIGG_uc003gal.3_Nonsense_Mutation_p.W570*	p.W659*	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			9	2112	+			659					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Nonsense_Mutation	SNP	ENST00000453061.2	37	c.1976G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	40	8.388921	0.98789	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	.	.	.	5.55	5.55	0.83447	.	0.265640	0.41823	D	0.000806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	17.3477	0.87314	0.0:0.0:1.0:0.0	.	.	.	.	X	651;659;570;526	.	ENSP00000311750:W651X	W	+	2	0	PIGG	507609	1.000000	0.71417	0.960000	0.40013	0.835000	0.47333	3.205000	0.51090	2.775000	0.95449	0.655000	0.94253	TGG		PASS	0.642	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		7	15	7	15	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36075362	36075362	+	Silent	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr4:36075362C>G	ENST00000303965.4	-	32	5181	c.4692G>C	c.(4690-4692)ctG>ctC	p.L1564L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1564					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.L1564L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTATAGGAATCAGAGGCAAAC	0.363																																						uc003gsq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4690-4692)CTG>CTC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							136.0	125.0	128.0					4																	36075362		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36075362C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4692G>C	4.37:g.36075362C>G						ARAP2_uc003gso.2_RNA	p.L1564L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			32	5030	-			1564					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.4692G>C	CCDS3441.1																																																																																				PASS	0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		34	162	34	162	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155461791	155461791	+	Silent	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr4:155461791C>A	ENST00000499023.2	-	10	1020	c.894G>T	c.(892-894)ccG>ccT	p.P298P	PLRG1_ENST00000393905.2_Silent_p.P298P|PLRG1_ENST00000302078.5_Silent_p.P289P	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	298					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.P298P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATCGATTGTCGGGTGCAAAT	0.378																																						uc003iny.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(892-894)CCG>CCT		pleiotropic regulator 1 (PRL1 homolog,							108.0	102.0	104.0					4																	155461791		2203	4300	6503	SO:0001819	synonymous_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155461791C>A	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.894G>T	4.37:g.155461791C>A						PLRG1_uc003inz.2_Silent_p.P289P|PLRG1_uc011cil.1_Silent_p.P137P	p.P298P	NM_002669	NP_002660	O43660	PLRG1_HUMAN			10	957	-	all_hematologic(180;0.215)	Renal(120;0.0854)	298			WD 3.		B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	37	c.894G>T	CCDS34083.1																																																																																				PASS	0.378	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		35	118	35	118	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186380653	186380653	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr4:186380653A>G	ENST00000307588.3	-	6	1163	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.I363T|CCDC110_ENST00000393540.3_Missense_Mutation_p.I326T	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	363						nucleus (GO:0005634)		p.I363T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGCCAGTGATGGGAATTTC	0.318																																						uc003ixu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1087-1089)ATC>ACC		coiled-coil domain containing 110 isoform a							137.0	142.0	140.0					4																	186380653		2202	4299	6501	SO:0001583	missense	256309					nucleus		g.chr4:186380653A>G	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1088T>C	4.37:g.186380653A>G	ENSP00000306776:p.Ile363Thr					CCDC110_uc003ixv.3_Missense_Mutation_p.I326T|CCDC110_uc011ckt.1_Missense_Mutation_p.I363T	p.I363T	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1164	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	363					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1088T>C	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	A	5.180	0.218813	0.09810	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.07800	3.16;3.17;3.17	5.27	2.7	0.31948	.	0.136830	0.33916	N	0.004429	T	0.08802	0.0218	M	0.62723	1.935	0.09310	N	1	P;P;P	0.45827	0.867;0.867;0.867	B;B;B	0.39027	0.288;0.215;0.288	T	0.21449	-1.0245	10	0.54805	T	0.06	-1.085	6.7776	0.23628	0.7748:0.0:0.0806:0.1446	.	363;326;363	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	T	326;363;363	ENSP00000377172:I326T;ENSP00000306776:I363T;ENSP00000427246:I363T	ENSP00000306776:I363T	I	-	2	0	CCDC110	186617647	0.614000	0.27017	0.604000	0.28916	0.782000	0.44232	0.522000	0.22909	1.034000	0.39945	0.528000	0.53228	ATC		PASS	0.318	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		7	258	7	258	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10411627	10411627	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:10411627G>T	ENST00000274140.5	+	19	2006	c.1874G>T	c.(1873-1875)cGa>cTa	p.R625L	MARCH6_ENST00000449913.2_Missense_Mutation_p.R577L|MARCH6_ENST00000503788.1_Missense_Mutation_p.R520L|MARCH6_ENST00000510792.1_Missense_Mutation_p.R323L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	625					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.R625L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTTACCGCCGACCTTTAAAT	0.458																																						uc003jet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1873-1875)CGA>CTA		membrane-associated ring finger (C3HC4) 6							65.0	62.0	63.0					5																	10411627		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.chr5:10411627G>T	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.1874G>T	5.37:g.10411627G>T	ENSP00000274140:p.Arg625Leu					MARCH6_uc011cmu.1_Missense_Mutation_p.R577L|MARCH6_uc003jeu.1_Missense_Mutation_p.R323L|MARCH6_uc011cmv.1_Missense_Mutation_p.R520L	p.R625L	NM_005885	NP_005876	O60337	MARH6_HUMAN			19	2057	+			625			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1874G>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545533	0.96488	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.71674	0.998;0.974;0.978;0.997	D;P;P;P	0.68943	0.961;0.74;0.73;0.907	T	0.57757	-0.7756	10	0.22706	T	0.39	-27.7647	19.2764	0.94032	0.0:0.0:1.0:0.0	.	520;577;205;625	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	L	577;520;625;323	ENSP00000414643:R577L;ENSP00000425930:R520L;ENSP00000274140:R625L;ENSP00000424512:R323L	ENSP00000274140:R625L	R	+	2	0	MARCH6	10464627	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.368000	0.97152	2.628000	0.89032	0.563000	0.77884	CGA		PASS	0.458	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		38	156	38	156	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15937245	15937245	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:15937245C>T	ENST00000504595.1	+	4	1907	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R429C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R464C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	476					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R476C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTTTGTCAAACGCCACTGCAA	0.577																																						uc003jfn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1426-1428)CGC>TGC		F-box and leucine-rich repeat protein 7							21.0	24.0	23.0					5																	15937245		2120	4246	6366	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937245C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1426C>T	5.37:g.15937245C>T	ENSP00000423630:p.Arg476Cys						p.R476C	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1907	+			476					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1426C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928841	0.92389	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.54866	0.55;0.55;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.56216	0.794	T	0.69250	-0.5194	10	0.87932	D	0	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	476	Q9UJT9	FBXL7_HUMAN	C	476;429;464	ENSP00000423630:R476C;ENSP00000425184:R429C;ENSP00000329632:R464C	ENSP00000329632:R464C	R	+	1	0	FBXL7	15990245	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.731000	0.84895	2.521000	0.84997	0.650000	0.86243	CGC		PASS	0.577	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		18	39	18	39	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33984399	33984399	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:33984399G>C	ENST00000296589.4	-	1	436	c.290C>G	c.(289-291)tCc>tGc	p.S97C	SLC45A2_ENST00000382102.3_Missense_Mutation_p.S97C|SLC45A2_ENST00000342059.3_Missense_Mutation_p.S97C|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S97C|SLC45A2_ENST00000345083.5_Missense_Mutation_p.S97C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	97					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.S97C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCCCCACCTGGACCGGCAGTG	0.627																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(289-291)TCC>TGC		membrane-associated transporter protein isoform							46.0	45.0	46.0					5																	33984399		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984399G>C	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.290C>G	5.37:g.33984399G>C	ENSP00000296589:p.Ser97Cys					SLC45A2_uc003jie.2_Missense_Mutation_p.S97C|SLC45A2_uc003jif.3_Missense_Mutation_p.S97C|SLC45A2_uc011coe.1_Missense_Mutation_p.S97C	p.S97C	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			1	382	-			97			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.290C>G	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701109	0.48307	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.220091	0.48767	D	0.000163	D	0.93687	0.7983	L	0.50993	1.605	0.44508	D	0.997456	B;B;B	0.17667	0.023;0.011;0.007	B;B;B	0.25140	0.058;0.05;0.05	D	0.90297	0.4327	10	0.39692	T	0.17	-10.775	16.1783	0.81884	0.0:0.1421:0.8579:0.0	.	97;97;97	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	C	97	ENSP00000296589:S97C;ENSP00000341014:S97C;ENSP00000371534:S97C;ENSP00000421100:S97C;ENSP00000340444:S97C	ENSP00000296589:S97C	S	-	2	0	SLC45A2	34020156	1.000000	0.71417	0.916000	0.36221	0.990000	0.78478	5.519000	0.67074	2.645000	0.89757	0.551000	0.68910	TCC		PASS	0.627	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		13	81	13	81	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42566037	42566037	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:42566037G>A	ENST00000230882.4	+	2	251	c.61G>A	c.(61-63)Gga>Aga	p.G21R	GHR_ENST00000357703.3_Missense_Mutation_p.G21R|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	21					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.G21R(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGCTTTTTCTGGAAGTGAGGG	0.433																																						uc003jmt.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|kidney(1)|skin(1)	6						c.(61-63)GGA>AGA		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						296.0	262.0	273.0					5																	42566037		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42566037G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.61G>A	5.37:g.42566037G>A	ENSP00000230882:p.Gly21Arg					GHR_uc011cpq.1_5'UTR	p.G21R	NM_000163	NP_000154	P10912	GHR_HUMAN			2	104	+		Myeloproliferative disorder(839;0.00878)	21			Extracellular (Potential).		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.61G>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527832	0.44969	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.84660	-1.88;-1.82	6.08	3.25	0.37280	.	0.534928	0.20331	N	0.094436	T	0.70245	0.3202	N	0.19112	0.55	0.31083	N	0.711654	B	0.13145	0.007	B	0.12156	0.007	T	0.66015	-0.6028	10	0.72032	D	0.01	-5.1075	2.2174	0.03963	0.1698:0.161:0.5203:0.1489	.	21	P10912	GHR_HUMAN	R	21	ENSP00000230882:G21R;ENSP00000350335:G21R	ENSP00000230882:G21R	G	+	1	0	GHR	42601794	0.995000	0.38212	0.456000	0.27044	0.444000	0.32077	0.435000	0.21510	1.591000	0.50007	-0.140000	0.14226	GGA		PASS	0.433	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		46	367	46	367	---	---	---	---
C5orf28	64417	broad.mit.edu	37	5	43446438	43446438	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:43446438G>A	ENST00000500337.2	-	5	865	c.534C>T	c.(532-534)ttC>ttT	p.F178F	C5orf28_ENST00000397080.3_Silent_p.F178F|C5orf28_ENST00000512085.1_Silent_p.F178F|C5orf28_ENST00000537319.1_Silent_p.F47F|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000510130.1_Silent_p.F76F			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	178						integral component of membrane (GO:0016021)		p.F178F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					CATAAAGCCAGAATGGCAAAG	0.378																																						uc003jny.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)TTC>TTT		hypothetical protein LOC64417							120.0	116.0	118.0					5																	43446438		2203	4300	6503	SO:0001819	synonymous_variant	64417					integral to membrane		g.chr5:43446438G>A	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.534C>T	5.37:g.43446438G>A						C5orf28_uc003jnv.3_Silent_p.F178F|C5orf28_uc003jnx.2_Silent_p.F178F	p.F178F	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN			3	677	-	Lung NSC(6;2.07e-05)		178			Helical; (Potential).		B2RDA6|Q9H6Z2	Silent	SNP	ENST00000500337.2	37	c.534C>T	CCDS3945.1																																																																																				PASS	0.378	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		68	168	68	168	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257016	63257016	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:63257016G>A	ENST00000323865.3	-	1	764	c.531C>T	c.(529-531)acC>acT	p.T177T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	177					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T177T(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTCTTCCGGGGTGCGCCAGC	0.597																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(529-531)ACC>ACT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						108.0	126.0	120.0					5																	63257016		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257016G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.531C>T	5.37:g.63257016G>A							p.T177T	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	531	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	177			Helical; Name=4; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.531C>T	CCDS34168.1																																																																																				PASS	0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		54	287	54	287	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64484044	64484044	+	5'UTR	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:64484044C>T	ENST00000314351.5	-	0	368							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W74*(1)|p.W903*(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCCCAATGAACCACCTGCAGC	0.493																																						uc003jtp.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(2707-2709)TGG>TGA		ADAM metallopeptidase with thrombospondin type 1							109.0	103.0	105.0					5																	64484044		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64484044C>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-954G>A	5.37:g.64484044C>T						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	p.W903*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	22	3523	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	903			TSP type-1 3.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Nonsense_Mutation	SNP	ENST00000314351.5	37	c.2709G>A		.	.	.	.	.	.	.	.	.	.	C	48	14.323703	0.99790	.	.	ENSG00000049192	ENST00000381055	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0832	0.89449	0.0:1.0:0.0:0.0	.	.	.	.	X	903	.	ENSP00000370443:W903X	W	-	3	0	ADAMTS6	64519800	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.317000	0.79018	2.483000	0.83821	0.655000	0.94253	TGG		PASS	0.493	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		41	253	41	253	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79033202	79033202	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:79033202C>T	ENST00000446378.2	+	2	8645	c.8614C>T	c.(8614-8616)Cac>Tac	p.H2872Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2872					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.H2872Y(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCAAAGCACCACTTGGAGGC	0.403																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(8614-8616)CAC>TAC		cardiomyopathy associated 5							97.0	92.0	93.0					5																	79033202		1928	4140	6068	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79033202C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8614C>T	5.37:g.79033202C>T	ENSP00000394770:p.His2872Tyr						p.H2872Y	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8686	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2872					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.8614C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560920	0.45590	.	.	ENSG00000164309	ENST00000446378	T	0.38077	1.16	6.17	2.22	0.28083	.	0.456909	0.20795	N	0.085548	T	0.30166	0.0756	L	0.57536	1.79	0.09310	N	1	P	0.38642	0.641	B	0.38562	0.276	T	0.29549	-1.0008	10	0.87932	D	0	.	3.0741	0.06241	0.3334:0.4244:0.1112:0.131	.	2872	Q8N3K9	CMYA5_HUMAN	Y	2872	ENSP00000394770:H2872Y	ENSP00000394770:H2872Y	H	+	1	0	CMYA5	79068958	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.413000	0.07123	0.467000	0.27218	0.655000	0.94253	CAC		PASS	0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		11	218	11	218	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101834355	101834355	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:101834355C>T	ENST00000506729.1	-	1	365	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R65Q|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R65Q|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R65Q|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R65Q|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R65Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTCCTTTTTCGGAAACCGCC	0.542																																						uc003knn.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(193-195)CGA>CAA		solute carrier organic anion transporter family,							143.0	156.0	152.0					5																	101834355		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834355C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.194G>A	5.37:g.101834355C>T	ENSP00000421339:p.Arg65Gln					SLCO6A1_uc003kno.2_Missense_Mutation_p.R65Q|SLCO6A1_uc003knp.2_Missense_Mutation_p.R65Q|SLCO6A1_uc003knq.2_Missense_Mutation_p.R65Q	p.R65Q	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	366	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	65			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.194G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	3.693	-0.063083	0.07273	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.43688	0.97;0.97;1.0;0.94;0.94	3.11	-6.21	0.02065	.	.	.	.	.	T	0.13286	0.0322	N	0.11560	0.145	0.09310	N	1	B;B;B	0.26363	0.128;0.147;0.079	B;B;B	0.14578	0.011;0.009;0.005	T	0.21999	-1.0229	9	0.07030	T	0.85	.	1.9164	0.03298	0.1264:0.1632:0.2575:0.4529	.	65;65;65	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Q	65	ENSP00000421339:R65Q;ENSP00000369135:R65Q;ENSP00000373671:R65Q;ENSP00000421990:R65Q;ENSP00000369138:R65Q	ENSP00000369135:R65Q	R	-	2	0	SLCO6A1	101862254	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.059000	0.03479	-2.496000	0.00513	0.484000	0.47621	CGA		PASS	0.542	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		71	409	71	409	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131034692	131034692	+	Missense_Mutation	SNP	T	T	C	rs551838274		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:131034692T>C	ENST00000510461.1	-	11	1215	c.1120A>G	c.(1120-1122)Atg>Gtg	p.M374V	FNIP1_ENST00000307968.7_Missense_Mutation_p.M346V|FNIP1_ENST00000511848.1_Missense_Mutation_p.M374V|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.M329V	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	374					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.M374V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTCATTTTCATAGCCTTGAAA	0.358													T|||	1	0.000199681	0.0	0.0	5008	,	,		20326	0.001		0.0	False		,,,				2504	0.0					uc003kvs.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1120-1122)ATG>GTG		folliculin interacting protein 1 isoform 1							108.0	104.0	105.0					5																	131034692		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131034692T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1120A>G	5.37:g.131034692T>C	ENSP00000421985:p.Met374Val					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.M346V|FNIP1_uc010jdm.1_Missense_Mutation_p.M329V|FNIP1_uc003kvu.2_Missense_Mutation_p.M374V	p.M374V	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	11	1262	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	374					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1120A>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181040	0.78677	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.23552	2.67;2.67;2.64;1.9	5.27	5.27	0.74061	.	.	.	.	.	T	0.38241	0.1033	M	0.76838	2.35	0.58432	D	0.999999	P;B;P;B	0.46859	0.885;0.225;0.885;0.34	P;B;P;B	0.45753	0.492;0.078;0.492;0.171	T	0.34900	-0.9810	9	0.46703	T	0.11	-7.8808	15.4726	0.75453	0.0:0.0:0.0:1.0	.	374;374;346;374	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	V	346;329;134;374;374	ENSP00000309266:M346V;ENSP00000310453:M329V;ENSP00000421985:M374V;ENSP00000425619:M374V	ENSP00000310453:M329V	M	-	1	0	FNIP1	131062591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.508000	0.81686	2.102000	0.63906	0.528000	0.53228	ATG		PASS	0.358	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		45	123	45	123	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594235	140594235	+	Silent	SNP	G	G	T	rs112800248		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:140594235G>T	ENST00000341948.4	+	1	727	c.540G>T	c.(538-540)cgG>cgT	p.R180R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R180R(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTATTTTCGGGTCCTCACCC	0.498																																						uc003lja.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(538-540)CGG>CGT		protocadherin beta 13 precursor							40.0	44.0	43.0					5																	140594235		2203	4297	6500	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594235G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.540G>T	5.37:g.140594235G>T							p.R180R	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	727	+			180			Cadherin 2.|Extracellular (Potential).		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.540G>T	CCDS4255.1																																																																																				PASS	0.498	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		34	129	34	129	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140740288	140740288	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:140740288C>G	ENST00000522605.1	+	1	586	c.586C>G	c.(586-588)Cta>Gta	p.L196V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	196	Cadherin 2. {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.L196V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTTGATTCTAAAACACTC	0.463																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CTA>GTA		protocadherin gamma subfamily B, 2 isoform 1							81.0	81.0	81.0					5																	140740288		1956	4143	6099	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740288C>G	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.586C>G	5.37:g.140740288C>G	ENSP00000429018:p.Leu196Val					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_uc011dar.1_Missense_Mutation_p.L196V	p.L196V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	586	+			196			Extracellular (Potential).|Cadherin 2.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.586C>G	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	8.534	0.871624	0.17322	.	.	ENSG00000253910	ENST00000522605	T	0.49432	0.78	5.54	2.8	0.32819	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39306	0.1073	L	0.35249	1.045	0.22562	N	0.998983	P;P	0.39737	0.627;0.685	B;B	0.42245	0.247;0.381	T	0.23797	-1.0178	9	0.72032	D	0.01	.	8.1472	0.31119	0.0:0.6292:0.0:0.3708	.	196;196	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	196	ENSP00000429018:L196V	ENSP00000429018:L196V	L	+	1	2	PCDHGB2	140720472	0.000000	0.05858	0.888000	0.34837	0.001000	0.01503	-0.253000	0.08794	0.824000	0.34613	0.655000	0.94253	CTA		PASS	0.463	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		11	133	11	133	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140778505	140778505	+	Intron	SNP	G	G	T	rs201463346		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:140778505G>T	ENST00000576222.1	+	1	2546				PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCAAGACGAGGGCATCAA	0.473																																						uc003lkf.1																			0					0						c.(811-813)GAG>TAG		protocadherin gamma subfamily B, 5 isoform 1							84.0	92.0	89.0					5																	140778505		2024	4197	6221	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778505G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26129G>T	5.37:g.140778505G>T						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_uc011daw.1_Nonsense_Mutation_p.E271*	p.E271*	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	811	+			271			Extracellular (Potential).|Cadherin 3.		A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	37	c.811G>T	CCDS58980.1																																																																																				PASS	0.473	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		34	188	34	188	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216209	149216209	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:149216209G>A	ENST00000309241.5	+	8	2223	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E692K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E731K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E667K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	731					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.E731K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCTTGGGCTGAGGCACAGGC	0.652																																						uc003lrc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2191-2193)GAG>AAG		peroxisome proliferator-activated receptor							43.0	47.0	46.0					5																	149216209		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216209G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2191G>A	5.37:g.149216209G>A	ENSP00000312649:p.Glu731Lys					PPARGC1B_uc003lrb.1_Missense_Mutation_p.E731K|PPARGC1B_uc003lrd.2_Missense_Mutation_p.E692K|PPARGC1B_uc003lrf.2_Missense_Mutation_p.E710K|PPARGC1B_uc003lre.1_Missense_Mutation_p.E710K	p.E731K	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2233	+			731					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2191G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	8.294	0.818453	0.16607	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	4.46	4.46	0.54185	.	3.149560	0.00735	N	0.000977	T	0.15176	0.0366	L	0.56769	1.78	0.09310	N	1	B;B;B;B;B	0.31209	0.313;0.264;0.313;0.129;0.313	B;B;B;B;B	0.29598	0.104;0.077;0.104;0.048;0.071	T	0.41251	-0.9519	10	0.52906	T	0.07	-4.4064	13.7111	0.62670	0.0:0.204:0.796:0.0	.	710;710;692;731;731	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	K	692;731;731;667	ENSP00000353638:E692K;ENSP00000377855:E731K;ENSP00000312649:E731K;ENSP00000384403:E667K	ENSP00000312649:E731K	E	+	1	0	PPARGC1B	149196402	1.000000	0.71417	0.015000	0.15790	0.246000	0.25737	4.363000	0.59473	2.211000	0.71520	0.456000	0.33151	GAG		PASS	0.652	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		23	102	23	102	---	---	---	---
FOXI1	2299	broad.mit.edu	37	5	169535196	169535196	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:169535196G>T	ENST00000306268.6	+	2	779	c.718G>T	c.(718-720)Gtg>Ttg	p.V240L	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	240					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V240L(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTCTCCCGGTGGACAGCCC	0.577									Pendred syndrome																													uc003mai.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(718-720)GTG>TTG		forkhead box I1 isoform a							56.0	62.0	60.0					5																	169535196		2203	4300	6503	SO:0001583	missense	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	g.chr5:169535196G>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.718G>T	5.37:g.169535196G>T	ENSP00000304286:p.Val240Leu					FOXI1_uc003maj.3_Intron	p.V240L	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	763	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	240					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.718G>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	2.554	-0.303436	0.05495	.	.	ENSG00000168269	ENST00000306268	D	0.93859	-3.3	4.91	1.72	0.24424	.	0.801478	0.11312	N	0.577021	T	0.81721	0.4882	N	0.08118	0	0.23260	N	0.998028	B	0.15473	0.013	B	0.09377	0.004	T	0.68685	-0.5343	10	0.26408	T	0.33	.	3.1163	0.06376	0.3031:0.0:0.2607:0.4362	.	240	Q12951	FOXI1_HUMAN	L	240	ENSP00000304286:V240L	ENSP00000304286:V240L	V	+	1	0	FOXI1	169467774	0.883000	0.30277	0.650000	0.29550	0.079000	0.17450	1.053000	0.30442	0.472000	0.27344	0.455000	0.32223	GTG		PASS	0.577	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		22	153	22	153	---	---	---	---
GPRIN1	114787	broad.mit.edu	37	5	176026691	176026691	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:176026691G>C	ENST00000303991.4	-	2	322	c.145C>G	c.(145-147)Cag>Gag	p.Q49E		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	49					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.Q49E(1)|p.Q49K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTTTTGCTGGGAGGGGCAG	0.662																																						uc003meo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(145-147)CAG>GAG		G protein-regulated inducer of neurite outgrowth							44.0	52.0	49.0					5																	176026691		2202	4298	6500	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176026691G>C	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.145C>G	5.37:g.176026691G>C	ENSP00000305839:p.Gln49Glu						p.Q49E	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	320	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	49					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.145C>G	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343157	0.61073	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.08807	3.05	4.61	3.72	0.42706	.	0.754314	0.10879	N	0.623970	T	0.16342	0.0393	M	0.63428	1.95	0.24499	N	0.994262	P	0.50819	0.939	P	0.50314	0.637	T	0.06391	-1.0829	10	0.38643	T	0.18	-0.5796	10.9417	0.47276	0.0956:0.0:0.9044:0.0	.	49	Q7Z2K8	GRIN1_HUMAN	E	49	ENSP00000305839:Q49E	ENSP00000305839:Q49E	Q	-	1	0	GPRIN1	175959297	1.000000	0.71417	0.963000	0.40424	0.753000	0.42808	2.625000	0.46452	2.392000	0.81423	0.563000	0.77884	CAG		PASS	0.662	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		55	189	55	189	---	---	---	---
DDX41	51428	broad.mit.edu	37	5	176939832	176939832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:176939832C>A	ENST00000507955.1	-	13	1871	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000501403.2_5'Flank|DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	450	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E450*(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGCAGGTACTCGTGGATGGCG	0.602																																						uc003mho.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1348-1350)GAG>TAG		DEAD-box protein abstrakt							155.0	133.0	140.0					5																	176939832		2203	4300	6503	SO:0001587	stop_gained	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176939832C>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1348G>T	5.37:g.176939832C>A	ENSP00000422753:p.Glu450*					DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Nonsense_Mutation_p.E230*|DDX41_uc003mhn.2_Nonsense_Mutation_p.E319*|DDX41_uc003mhp.2_Nonsense_Mutation_p.E319*|DDX41_uc003mhq.1_Nonsense_Mutation_p.E230*	p.E450*	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		13	1369	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	450			Helicase C-terminal.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Nonsense_Mutation	SNP	ENST00000507955.1	37	c.1348G>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	38	6.655980	0.97739	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.91	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-42.0263	15.0448	0.71819	0.0:0.9321:0.0:0.0679	.	.	.	.	X	468;450	.	ENSP00000330349:E468X	E	-	1	0	DDX41	176872438	1.000000	0.71417	0.974000	0.42286	0.958000	0.62258	7.736000	0.84948	1.517000	0.48917	-0.142000	0.14014	GAG		PASS	0.602	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		85	233	85	233	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413425	178413425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr5:178413425G>T	ENST00000517717.1	-	9	1868	c.1830C>A	c.(1828-1830)taC>taA	p.Y610*	GRM6_ENST00000231188.5_Nonsense_Mutation_p.Y610*|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	610					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)	p.Y610*(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCGTGTTGTTGTACCGCACGA	0.672																																						uc003mjr.2																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1828-1830)TAC>TAA		glutamate receptor, metabotropic 6 precursor							35.0	33.0	34.0					5																	178413425		2203	4300	6503	SO:0001587	stop_gained	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413425G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1830C>A	5.37:g.178413425G>T	ENSP00000430767:p.Tyr610*					GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Nonsense_Mutation_p.Y193*|GRM6_uc003mjs.1_Nonsense_Mutation_p.Y230*	p.Y610*	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2009	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	610			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000517717.1	37	c.1830C>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	36	5.945541	0.97134	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	.	.	.	5.02	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	11.5215	0.50553	0.0889:0.0:0.9111:0.0	.	.	.	.	X	766;610;610	.	ENSP00000231188:Y610X	Y	-	3	2	GRM6	178346031	1.000000	0.71417	0.729000	0.30791	0.258000	0.26162	3.973000	0.56845	1.251000	0.43983	0.462000	0.41574	TAC		PASS	0.672	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			9	35	9	35	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6167791	6167791	+	Missense_Mutation	SNP	G	G	C	rs148207995	byFrequency	TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:6167791G>C	ENST00000264870.3	-	13	2073	c.1808C>G	c.(1807-1809)gCg>gGg	p.A603G	MIR5683_ENST00000584820.1_RNA	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	603					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A603G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTGCAGGGACGCTTGTTCCAG	0.522																																						uc003mwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(1807-1809)GCG>GGG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						176.0	124.0	142.0					6																	6167791		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6167791G>C	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1808C>G	6.37:g.6167791G>C	ENSP00000264870:p.Ala603Gly					F13A1_uc011dib.1_Missense_Mutation_p.A540G	p.A603G	NM_000129	NP_000120	P00488	F13A_HUMAN			13	1931	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	603					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1808C>G	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	3.297	-0.143649	0.06627	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.75154	-0.91	5.54	2.69	0.31865	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.369785	0.27577	N	0.018745	T	0.40145	0.1105	N	0.25245	0.725	0.37248	D	0.90644	B;B	0.19817	0.039;0.015	B;B	0.19946	0.027;0.023	T	0.27640	-1.0068	10	0.09590	T	0.72	.	15.8847	0.79238	0.0:0.3921:0.6079:0.0	.	540;603	F5H080;P00488	.;F13A_HUMAN	G	603;540	ENSP00000264870:A603G	ENSP00000264870:A603G	A	-	2	0	F13A1	6112790	1.000000	0.71417	0.124000	0.21820	0.499000	0.33736	2.072000	0.41510	0.258000	0.21686	0.467000	0.42956	GCG		PASS	0.522	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		22	96	22	96	---	---	---	---
GTF2H4	2968	broad.mit.edu	37	6	30876830	30876830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:30876830C>A	ENST00000259895.4	+	2	240	c.17C>A	c.(16-18)tCa>tAa	p.S6*	GTF2H4_ENST00000376316.2_Nonsense_Mutation_p.S6*|RN7SL175P_ENST00000580375.1_RNA|GTF2H4_ENST00000539324.1_Intron	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	6					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S6*(2)		breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGCACCCCTTCAAGGGGACTG	0.542								Nucleotide excision repair (NER)																														uc003nsa.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|breast(1)	3						c.(16-18)TCA>TAA	NER	general transcription factor IIH, polypeptide 4,							95.0	85.0	89.0					6																	30876830		2203	4300	6503	SO:0001587	stop_gained	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30876830C>A	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.17C>A	6.37:g.30876830C>A	ENSP00000259895:p.Ser6*					GTF2H4_uc010jsf.2_Nonsense_Mutation_p.S6*|GTF2H4_uc011dmv.1_Intron|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Nonsense_Mutation_p.S12*	p.S6*	NM_001517	NP_001508	Q92759	TF2H4_HUMAN			2	224	+			6					B4DTJ5|Q76KU4	Nonsense_Mutation	SNP	ENST00000259895.4	37	c.17C>A	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	C	37	6.109783	0.97291	.	.	ENSG00000213780	ENST00000259895;ENST00000376316;ENST00000453897	.	.	.	4.44	4.44	0.53790	.	1.534340	0.04447	U	0.371993	.	.	.	.	.	.	0.47214	D	0.99935	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3199	12.4662	0.55759	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000259895:S6X	S	+	2	0	GTF2H4	30984809	0.003000	0.15002	0.093000	0.20910	0.973000	0.67179	1.774000	0.38573	2.300000	0.77407	0.561000	0.74099	TCA		PASS	0.542	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		19	123	19	123	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36927041	36927041	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:36927041G>C	ENST00000373674.3	+	2	620	c.292G>C	c.(292-294)Gac>Cac	p.D98H		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	98	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.D98H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGAGGGCATGGACGTGCCGCT	0.677																																						uc003ona.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GAC>CAC		protease inhibitor 16 precursor							29.0	24.0	25.0					6																	36927041		2195	4295	6490	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36927041G>C		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.292G>C	6.37:g.36927041G>C	ENSP00000362778:p.Asp98His					PI16_uc003omz.1_Missense_Mutation_p.D98H|PI16_uc003onb.2_Missense_Mutation_p.D98H|PI16_uc011dts.1_5'Flank	p.D98H	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			2	620	+			98			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.292G>C	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311785	0.81358	.	.	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.09538	2.97	5.29	4.41	0.53225	CAP domain (3);	0.061993	0.64402	D	0.000006	T	0.27629	0.0679	M	0.84683	2.71	0.43065	D	0.994699	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.24621	-1.0155	10	0.72032	D	0.01	.	15.4898	0.75597	0.0:0.1394:0.8606:0.0	.	98;98	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	H	98	ENSP00000362778:D98H	ENSP00000362778:D98H	D	+	1	0	PI16	37035019	1.000000	0.71417	0.972000	0.41901	0.966000	0.64601	4.276000	0.58933	1.201000	0.43203	0.511000	0.50034	GAC		PASS	0.677	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		6	23	6	23	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38863930	38863930	+	Missense_Mutation	SNP	C	C	T	rs143707632		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:38863930C>T	ENST00000359357.3	+	58	8472	c.8218C>T	c.(8218-8220)Cgt>Tgt	p.R2740C	DNAH8_ENST00000441566.1_Missense_Mutation_p.R2704C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R2957C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2740					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2740C(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATTTTCTTCGTGAGATGCC	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20640	0.0		0.0	False		,,,				2504	0.0					uc003ooe.1																			2	Substitution - Missense(2)	p.R2740H(1)	lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(8218-8220)CGT>TGT		dynein, axonemal, heavy polypeptide 8		C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	152.0	138.0	143.0		8869	4.5	1.0	6	dbSNP_134	143	0,8600		0,0,4300	yes	missense	DNAH8	NM_001206927.1	180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	2957/4708	38863930	4,13002	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38863930C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8218C>T	6.37:g.38863930C>T	ENSP00000352312:p.Arg2740Cys						p.R2740C	NM_001371	NP_001362					58	8818	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.8218C>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.190625	0.78789	9.08E-4	0.0	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27256	1.7;1.69;1.68	5.36	4.5	0.54988	.	0.054604	0.64402	D	0.000001	T	0.49813	0.1579	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63915	-0.6529	10	0.87932	D	0	.	14.6251	0.68616	0.0:0.9293:0.0:0.0707	.	2740	Q96JB1	DYH8_HUMAN	C	2945;2945;2740;2704	ENSP00000333363:R2945C;ENSP00000352312:R2740C;ENSP00000402294:R2704C	ENSP00000333363:R2945C	R	+	1	0	DNAH8	38971908	0.979000	0.34478	0.996000	0.52242	0.702000	0.40608	2.808000	0.47963	1.400000	0.46741	0.591000	0.81541	CGT		PASS	0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		44	218	44	218	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399554	40399554	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:40399554G>A	ENST00000338305.6	-	2	1841	c.1299C>T	c.(1297-1299)acC>acT	p.T433T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	433	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T433T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCCGAGGTGGTGGTCACTT	0.607																																						uc003oph.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1297-1299)ACC>ACT		leucine rich repeat and fibronectin type III							58.0	60.0	59.0					6																	40399554		2203	4300	6503	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399554G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1299C>T	6.37:g.40399554G>A							p.T433T	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1764	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		433			Fibronectin type-III.|Extracellular (Potential).		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.1299C>T	CCDS34443.1																																																																																				PASS	0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		27	140	27	140	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46656835	46656835	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:46656835G>T	ENST00000316081.6	+	1	970	c.970G>T	c.(970-972)Gga>Tga	p.G324*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.G324*|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	324	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.G324*(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGCCTGGATGGACATTGGTA	0.582																																						uc003oyj.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(970-972)GGA>TGA		tudor domain containing 6							76.0	74.0	75.0					6																	46656835		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656835G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.970G>T	6.37:g.46656835G>T	ENSP00000346065:p.Gly324*					TDRD6_uc010jze.2_Nonsense_Mutation_p.G318*	p.G324*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	970	+			324			Tudor 2.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.970G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332702	0.60853	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.54	5.54	0.83059	.	0.097588	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-22.5589	19.2866	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	324	.	ENSP00000346065:G324X	G	+	1	0	TDRD6	46764794	1.000000	0.71417	0.103000	0.21229	0.048000	0.14542	7.155000	0.77445	2.884000	0.98904	0.655000	0.94253	GGA		PASS	0.582	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		31	72	31	72	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49578736	49578736	+	Splice_Site	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:49578736C>T	ENST00000371175.4	-	7	1094		c.e7+1		RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.?(2)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTTTTACTCACGTGTTGGAGG	0.502																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			2	Unknown(2)		lung(2)	breast(1)|skin(1)	2	GRCh37	CS982347	RHAG	S		c.e7+1		Rh-associated glycoprotein							86.0	79.0	82.0					6																	49578736		2203	4300	6503	SO:0001630	splice_region_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49578736C>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1067+1G>A	6.37:g.49578736C>T						RHAG_uc010jzl.2_Splice_Site_p.T356_splice|RHAG_uc010jzm.2_Intron	p.T356_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN			7	1129	-	Lung NSC(77;0.0255)							B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Splice_Site	SNP	ENST00000371175.4	37	c.1067_splice	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271583	0.23221	.	.	ENSG00000112077	ENST00000371175;ENST00000418071;ENST00000539403	.	.	.	5.03	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2681	0.54689	0.17:0.83:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHAG	49686695	0.992000	0.36948	0.792000	0.32020	0.110000	0.19582	2.839000	0.48207	1.223000	0.43536	0.655000	0.94253	.		PASS	0.502	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Intron	42	148	42	148	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55216362	55216362	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:55216362C>A	ENST00000340465.2	+	5	768	c.682C>A	c.(682-684)Caa>Aaa	p.Q228K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	228					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q228K(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCGCAGCTGCCAAAATGATGA	0.418																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(682-684)CAA>AAA		GDNF family receptor alpha like precursor							56.0	58.0	57.0					6																	55216362		2202	4300	6502	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216362C>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.682C>A	6.37:g.55216362C>A	ENSP00000343636:p.Gln228Lys						p.Q228K	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	768	+	Lung NSC(77;0.0875)|Renal(3;0.122)		228			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.682C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325146	0.24080	.	.	ENSG00000187871	ENST00000340465	T	0.63096	-0.02	6.05	4.2	0.49525	GDNF/GAS1 (2);	0.653022	0.14652	N	0.306514	T	0.28995	0.0720	L	0.36672	1.1	0.21841	N	0.999514	B	0.18013	0.025	B	0.17979	0.02	T	0.16630	-1.0396	10	0.17832	T	0.49	-6.1068	11.504	0.50454	0.2374:0.6341:0.1285:0.0	.	228	Q6UXV0	GFRAL_HUMAN	K	228	ENSP00000343636:Q228K	ENSP00000343636:Q228K	Q	+	1	0	GFRAL	55324321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.259000	0.32956	0.810000	0.34279	0.650000	0.86243	CAA		PASS	0.418	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		17	100	17	100	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84333061	84333061	+	Splice_Site	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:84333061G>T	ENST00000439399.2	-	9	1082	c.766C>A	c.(766-768)Caa>Aaa	p.Q256K	SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Splice_Site_p.Q256K|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Splice_Site_p.Q256K|SNAP91_ENST00000521485.1_Splice_Site_p.Q256K|SNAP91_ENST00000428679.2_Splice_Site_p.Q256K|SNAP91_ENST00000195649.6_Splice_Site_p.Q256K|SNAP91_ENST00000520302.1_Splice_Site_p.Q256K	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	256					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.Q256K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATACCAACTTGCTGTGGATTT	0.308																																						uc011dze.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(766-768)CAA>AAA		synaptosomal-associated protein, 91kDa homolog							80.0	70.0	73.0					6																	84333061		1806	4073	5879	SO:0001630	splice_region_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84333061G>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.766-1C>A	6.37:g.84333061G>T						SNAP91_uc003pkb.2_Missense_Mutation_p.Q221K|SNAP91_uc003pkc.2_Missense_Mutation_p.Q256K|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.Q256K|SNAP91_uc011dzf.1_Missense_Mutation_p.Q137K	p.Q256K	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	9	1083	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	256					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.766C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425418	0.62733	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.46	5.46	0.80206	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.155020	0.64402	N	0.000014	T	0.33673	0.0871	L	0.39326	1.205	0.80722	D	1	P;D;P	0.56287	0.914;0.975;0.914	P;P;P	0.57152	0.814;0.618;0.814	T	0.08249	-1.0731	10	0.87932	D	0	-6.673	17.0791	0.86593	0.0:0.0:1.0:0.0	.	256;256;256	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	K	256	ENSP00000429776:Q256K;ENSP00000358708:Q256K;ENSP00000400459:Q256K;ENSP00000195649:Q256K;ENSP00000412492:Q256K;ENSP00000428511:Q256K;ENSP00000428215:Q256K;ENSP00000430071:Q256K	ENSP00000195649:Q256K	Q	-	1	0	SNAP91	84389780	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.972000	0.70448	2.576000	0.86940	0.655000	0.94253	CAA		PASS	0.308	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		Missense_Mutation	6	21	6	21	---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109274546	109274546	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:109274546C>A	ENST00000392644.4	+	13	2075	c.1907C>A	c.(1906-1908)aCc>aAc	p.T636N	ARMC2_ENST00000368972.3_Missense_Mutation_p.T471N	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	636								p.T629N(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTGCTCCTGACCACGCTGGGT	0.617																																						uc003pss.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1906-1908)ACC>AAC		armadillo repeat containing 2							16.0	18.0	17.0					6																	109274546		2199	4294	6493	SO:0001583	missense	84071						binding	g.chr6:109274546C>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1907C>A	6.37:g.109274546C>A	ENSP00000376417:p.Thr636Asn					ARMC2_uc011eao.1_Missense_Mutation_p.T471N	p.T636N	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	13	2081	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	636			ARM 9.		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1907C>A	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912429	0.33721	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.47177	0.85;0.85	5.77	3.96	0.45880	Armadillo-like helical (1);Armadillo-type fold (1);	0.434355	0.28327	N	0.015752	T	0.20210	0.0486	L	0.38531	1.155	0.25443	N	0.988073	B	0.32010	0.351	B	0.39617	0.305	T	0.22836	-1.0205	10	0.17832	T	0.49	-10.0353	9.91	0.41399	0.2439:0.4885:0.2676:0.0	.	636	Q8NEN0	ARMC2_HUMAN	N	471;636	ENSP00000357968:T471N;ENSP00000376417:T636N	ENSP00000357968:T471N	T	+	2	0	ARMC2	109381239	0.956000	0.32656	0.848000	0.33437	0.961000	0.63080	1.046000	0.30354	0.758000	0.33059	0.650000	0.86243	ACC		PASS	0.617	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		10	15	10	15	---	---	---	---
CDC40	51362	broad.mit.edu	37	6	110538960	110538960	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:110538960C>T	ENST00000368932.1	+	11	1145	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	CDC40_ENST00000307731.1_Silent_p.L348L|CDC40_ENST00000368930.1_Silent_p.L348L			O60508	PRP17_HUMAN	cell division cycle 40	348					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.L348L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CACAGTTCCTCAGTGCAGCCT	0.403																																						uc003pua.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1042-1044)CTC>CTT		cell division cycle 40 homolog							130.0	113.0	119.0					6																	110538960		2203	4300	6503	SO:0001819	synonymous_variant	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110538960C>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1044C>T	6.37:g.110538960C>T							p.L348L	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	10	1068	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	348			WD 2.		B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	ENST00000368932.1	37	c.1044C>T	CCDS5081.1																																																																																				PASS	0.403	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		27	107	27	107	---	---	---	---
SLC16A10	117247	broad.mit.edu	37	6	111498481	111498482	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:111498481_111498482GC>AA	ENST00000368851.5	+	3	730_731	c.555_556GC>AA	c.(553-558)caGCct>caAAct	p.P186T	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	186					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P186T(2)|p.Q185Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTGCATACCAGCCTTCATTGGT	0.46																																						uc003pus.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(553-555)CAG>CAA|c.(556-558)CCT>ACT		solute carrier family 16, member 10																																				SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111498481G>A|g.chr6:111498482C>A	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	Exception_encountered	6.37:g.111498481_111498482delinsAA	ENSP00000357844:p.Pro186Thr					SLC16A10_uc003pur.3_Silent_p.Q185Q|SLC16A10_uc003put.2_5'UTR|SLC16A10_uc003pur.3_Missense_Mutation_p.P186T|SLC16A10_uc003put.2_5'UTR	p.Q185Q|p.P186T	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	3	730|731	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	185|186			Helical; (Potential).		B3KWY0|Q6ZMG0|Q8WVI5	Silent|Missense_Mutation	SNP	ENST00000368851.5	37	c.555G>A|c.556C>A	CCDS5089.1																																																																																				PASS	0.460	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			25	125|129	25	125	---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139563943	139563943	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:139563943C>T	ENST00000358430.3	-	10	2007	c.1775G>A	c.(1774-1776)gGt>gAt	p.G592D	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	592						cytoplasm (GO:0005737)		p.G592D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AACAGGGAGACCCTCGCATTG	0.612																																						uc011eds.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1774-1776)GGT>GAT		taxilin beta							60.0	68.0	65.0					6																	139563943		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139563943C>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1775G>A	6.37:g.139563943C>T	ENSP00000351206:p.Gly592Asp						p.G592D	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1940	-			592					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1775G>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774155	0.31411	.	.	ENSG00000164440	ENST00000358430	T	0.14893	2.47	5.56	3.72	0.42706	.	2.659170	0.00899	N	0.002322	T	0.05364	0.0142	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.25502	-1.0130	9	.	.	.	-0.6911	7.9077	0.29771	0.0:0.7525:0.1603:0.0872	.	592	Q8N3L3	TXLNB_HUMAN	D	592	ENSP00000351206:G592D	.	G	-	2	0	TXLNB	139605636	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.188000	0.17018	1.363000	0.46019	0.655000	0.94253	GGT		PASS	0.612	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		61	113	61	113	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144780310	144780310	+	Splice_Site	SNP	C	C	A	rs145026541		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:144780310C>A	ENST00000367545.3	+	20	2527	c.2527C>A	c.(2527-2529)Cgg>Agg	p.R843R		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	843	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.R843R(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)		TCTTCCTTAGCGGGAATTGAC	0.458																																						uc003qkt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2527-2529)CGG>AGG		utrophin							80.0	73.0	76.0					6																	144780310		2203	4300	6503	SO:0001630	splice_region_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.chr6:144780310C>A	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.2527-1C>A	6.37:g.144780310C>A						UTRN_uc010khq.1_Silent_p.R843R	p.R843R	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)	20	2619	+		Ovarian(120;0.218)	843			Interaction with SYNM.|Spectrin 6.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.2527C>A	CCDS34547.1																																																																																				PASS	0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Silent	17	68	17	68	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152529337	152529337	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:152529337C>G	ENST00000367255.5	-	125	23195	c.22594G>C	c.(22594-22596)Gaa>Caa	p.E7532Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E7461Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7144Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7532Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2056Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7461Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7532					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E7532Q(2)|p.E7461Q(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTTGAATTCATCCCTAGTG	0.463										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(22594-22596)GAA>CAA		spectrin repeat containing, nuclear envelope 1							51.0	54.0	53.0					6																	152529337		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152529337C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22594G>C	6.37:g.152529337C>G	ENSP00000356224:p.Glu7532Gln	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.E2056Q|SYNE1_uc003qos.3_Missense_Mutation_p.E2056Q|SYNE1_uc003qot.3_Missense_Mutation_p.E7461Q|SYNE1_uc003qou.3_Missense_Mutation_p.E7532Q|SYNE1_uc003qor.3_Missense_Mutation_p.E432Q	p.E7532Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	125	23196	-		Ovarian(120;0.0955)	7532			Cytoplasmic (Potential).|Spectrin 25.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22594G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671912	0.88348	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.52295	1.27;0.67;1.27;1.27;1.27;1.27;0.67;0.67	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000025	T	0.64114	0.2569	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.974;0.974;0.988;0.974	T	0.63897	-0.6533	10	0.51188	T	0.08	.	19.5733	0.95430	0.0:1.0:0.0:0.0	.	7532;7532;7461;7461	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Q	7532;178;7461;7532;7461;7144;2056;454	ENSP00000356224:E7532Q;ENSP00000356226:E178Q;ENSP00000396024:E7461Q;ENSP00000265368:E7532Q;ENSP00000390975:E7461Q;ENSP00000341887:E7144Q;ENSP00000349276:E2056Q;ENSP00000356220:E454Q	ENSP00000265368:E7532Q	E	-	1	0	SYNE1	152571030	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.070000	0.71220	2.618000	0.88619	0.563000	0.77884	GAA		PASS	0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	111	11	111	---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155579203	155579203	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr6:155579203C>T	ENST00000367166.4	-	7	863	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	RP11-477D19.2_ENST00000435295.1_RNA	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.E270K(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CGCTGCGCTTCAGGGAATAAC	0.448																																						uc003qqj.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(808-810)GAA>AAA		transcription factor B1, mitochondrial							76.0	81.0	79.0					6																	155579203		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155579203C>T	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.808G>A	6.37:g.155579203C>T	ENSP00000356134:p.Glu270Lys					TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	p.E270K	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	7	872	-		Ovarian(120;0.196)	270					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.808G>A	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	C	6.407	0.443294	0.12164	.	.	ENSG00000029639	ENST00000367166	T	0.28255	1.62	5.91	1.95	0.26073	rRNA adenine dimethylase-like (1);	0.220907	0.45361	N	0.000372	T	0.04815	0.0130	N	0.12611	0.24	0.44880	D	0.997892	B	0.06786	0.001	B	0.15484	0.013	T	0.28490	-1.0042	10	0.06757	T	0.87	-22.7055	9.6926	0.40139	0.0:0.6306:0.2371:0.1323	.	270	Q8WVM0	TFB1M_HUMAN	K	270	ENSP00000356134:E270K	ENSP00000356134:E270K	E	-	1	0	TFB1M	155620895	0.884000	0.30299	0.513000	0.27749	0.060000	0.15804	1.476000	0.35420	0.827000	0.34685	0.655000	0.94253	GAA		PASS	0.448	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			43	207	43	207	---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20441445	20441445	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:20441445T>G	ENST00000222573.4	+	10	2067	c.1383T>G	c.(1381-1383)atT>atG	p.I461M	ITGB8_ENST00000537992.1_Missense_Mutation_p.I326M	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	461					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.I461M(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCGCTAAAATTCATATACACA	0.353																																						uc003suu.2																			2	Substitution - Missense(2)		lung(2)	skin(3)	3						c.(1381-1383)ATT>ATG		integrin, beta 8 precursor							106.0	108.0	107.0					7																	20441445		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20441445T>G		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1383T>G	7.37:g.20441445T>G	ENSP00000222573:p.Ile461Met					ITGB8_uc011jyh.1_Missense_Mutation_p.I326M	p.I461M	NM_002214	NP_002205	P26012	ITB8_HUMAN			10	2088	+			461			Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1383T>G	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512317	0.64522	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.94417	-3.42;-3.42	5.96	-0.5	0.12012	Integrin beta subunit, N-terminal (2);	0.220309	0.38492	N	0.001665	D	0.92945	0.7755	L	0.52573	1.65	0.38354	D	0.944418	P	0.49253	0.921	P	0.54210	0.745	D	0.89505	0.3767	10	0.42905	T	0.14	.	7.3503	0.26686	0.113:0.426:0.0:0.461	.	461	P26012	ITB8_HUMAN	M	326;461	ENSP00000441561:I326M;ENSP00000222573:I461M	ENSP00000222573:I461M	I	+	3	3	ITGB8	20407970	0.952000	0.32445	0.997000	0.53966	0.994000	0.84299	-0.051000	0.11885	-0.055000	0.13244	0.533000	0.62120	ATT		PASS	0.353	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		17	203	17	203	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31864549	31864549	+	Silent	SNP	G	G	T	rs59159704	byFrequency	TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:31864549G>T	ENST00000396191.1	-	13	1793	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	PDE1C_ENST00000321453.7_Silent_p.T446T|PDE1C_ENST00000396184.3_Silent_p.T446T|PDE1C_ENST00000396182.2_Silent_p.T446T|PDE1C_ENST00000396193.1_Silent_p.T506T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	446	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.T446T(2)|p.T506T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CAATCTTCTCGGTCATGTCCG	0.498																																						uc003tcm.1																			3	Substitution - coding silent(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1336-1338)ACC>ACA		phosphodiesterase 1C							179.0	152.0	161.0					7																	31864549		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31864549G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1338C>A	7.37:g.31864549G>T						PDE1C_uc003tcn.1_Silent_p.T446T|PDE1C_uc003tco.1_Silent_p.T506T|PDE1C_uc003tcr.2_Silent_p.T446T|PDE1C_uc003tcs.2_Silent_p.T446T	p.T446T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		13	1807	-			446			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1338C>A	CCDS55099.1																																																																																				PASS	0.498	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			85	180	85	180	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103180703	103180703	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:103180703G>A	ENST00000428762.1	-	44	7030	c.6871C>T	c.(6871-6873)Ctt>Ttt	p.L2291F	RELN_ENST00000343529.5_Missense_Mutation_p.L2291F|RELN_ENST00000424685.2_Missense_Mutation_p.L2291F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2291					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L2291F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACCAGCGAAGGCGAGTAGAA	0.498																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6871-6873)CTT>TTT		reelin isoform a							92.0	86.0	88.0					7																	103180703		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180703G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6871C>T	7.37:g.103180703G>A	ENSP00000392423:p.Leu2291Phe					RELN_uc010liz.2_Missense_Mutation_p.L2291F	p.L2291F	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	7031	-			2291					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6871C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405885	0.62288	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.36340	1.64;1.64;1.26	5.44	5.44	0.79542	.	0.069331	0.64402	D	0.000015	T	0.33059	0.0850	N	0.12663	0.25	0.50171	D	0.999854	P;P	0.51057	0.941;0.657	P;P	0.50314	0.637;0.532	T	0.05989	-1.0852	10	0.24483	T	0.36	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	2291;2291	P78509-2;P78509	.;RELN_HUMAN	F	2291	ENSP00000392423:L2291F;ENSP00000345694:L2291F;ENSP00000388446:L2291F	ENSP00000345694:L2291F	L	-	1	0	RELN	102967939	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.250000	0.58772	2.717000	0.92951	0.655000	0.94253	CTT		PASS	0.498	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		57	156	57	156	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103243798	103243798	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:103243798G>C	ENST00000428762.1	-	24	3445	c.3286C>G	c.(3286-3288)Caa>Gaa	p.Q1096E	RELN_ENST00000343529.5_Missense_Mutation_p.Q1096E|RELN_ENST00000424685.2_Missense_Mutation_p.Q1096E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1096					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.Q1096E(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACACCCTTGTTCTGGTTTT	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3286-3288)CAA>GAA		reelin isoform a							156.0	137.0	143.0					7																	103243798		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103243798G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3286C>G	7.37:g.103243798G>C	ENSP00000392423:p.Gln1096Glu					RELN_uc010liz.2_Missense_Mutation_p.Q1096E	p.Q1096E	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	24	3446	-			1096					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3286C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019718	0.19355	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.20738	2.05;2.05;2.05	5.45	3.62	0.41486	.	0.239776	0.43919	N	0.000504	T	0.12689	0.0308	N	0.19112	0.55	0.28031	N	0.934143	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.29305	-1.0016	10	0.02654	T	1	.	16.583	0.84719	0.0:0.4804:0.5196:0.0	.	1096;1096	P78509-2;P78509	.;RELN_HUMAN	E	1096	ENSP00000392423:Q1096E;ENSP00000345694:Q1096E;ENSP00000388446:Q1096E	ENSP00000345694:Q1096E	Q	-	1	0	RELN	103031034	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	2.947000	0.49058	0.656000	0.30886	0.655000	0.94253	CAA		PASS	0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		34	229	34	229	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103301968	103301968	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:103301968A>C	ENST00000428762.1	-	12	1455	c.1296T>G	c.(1294-1296)gaT>gaG	p.D432E	RELN_ENST00000343529.5_Missense_Mutation_p.D432E|RELN_ENST00000424685.2_Missense_Mutation_p.D432E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	432					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.D432E(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCCAAGACATCCCATCTAA	0.363																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1294-1296)GAT>GAG		reelin isoform a							95.0	77.0	83.0					7																	103301968		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103301968A>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1296T>G	7.37:g.103301968A>C	ENSP00000392423:p.Asp432Glu					RELN_uc010liz.2_Missense_Mutation_p.D432E	p.D432E	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	12	1456	-			432					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1296T>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	0.281	-0.986237	0.02180	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22134	1.98;1.97;1.98	4.92	-4.19	0.03835	.	0.000000	0.85682	D	0.000000	T	0.05410	0.0143	N	0.08118	0	0.35304	D	0.783328	B;B	0.15473	0.0;0.013	B;B	0.10450	0.004;0.005	T	0.37572	-0.9700	10	0.06757	T	0.87	.	1.8228	0.03114	0.3395:0.096:0.3694:0.1951	.	432;432	P78509-2;P78509	.;RELN_HUMAN	E	432	ENSP00000392423:D432E;ENSP00000345694:D432E;ENSP00000388446:D432E	ENSP00000345694:D432E	D	-	3	2	RELN	103089204	0.995000	0.38212	0.956000	0.39512	0.236000	0.25371	0.315000	0.19451	-0.762000	0.04664	-1.532000	0.00920	GAT		PASS	0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		27	97	27	97	---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117874896	117874896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:117874896G>T	ENST00000265224.4	+	3	591	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	ANKRD7_ENST00000433239.1_Nonsense_Mutation_p.E93*|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000357099.4_Nonsense_Mutation_p.E166*|ANKRD7_ENST00000417525.1_Nonsense_Mutation_p.E93*	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	146					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.E166*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AAAACTGCTTGAATACGAAGC	0.328																																						uc003vji.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(436-438)GAA>TAA		ankyrin repeat domain 7							155.0	137.0	142.0					7																	117874896		1839	4090	5929	SO:0001587	stop_gained	56311				male gonad development			g.chr7:117874896G>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.436G>T	7.37:g.117874896G>T	ENSP00000265224:p.Glu146*						p.E146*	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			3	609	+			146			ANK 3.		B4DYF5|Q96QN1|Q9UDM3	Nonsense_Mutation	SNP	ENST00000265224.4	37	c.436G>T	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753298	0.31046	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	.	.	.	5.13	-5.49	0.02584	.	0.744085	0.11742	N	0.533901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.4919	3.2841	0.06926	0.1233:0.3706:0.2228:0.2833	.	.	.	.	X	166;146;93;93	.	ENSP00000265224:E146X	E	+	1	0	ANKRD7	117662132	0.975000	0.34042	0.000000	0.03702	0.001000	0.01503	0.118000	0.15605	-1.517000	0.01780	-0.868000	0.02995	GAA		PASS	0.328	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		37	128	37	128	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144380018	144380018	+	Missense_Mutation	SNP	C	C	G	rs200717734		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:144380018C>G	ENST00000360057.3	-	4	271	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	TPK1_ENST00000378099.3_Missense_Mutation_p.E57Q|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000538212.2_Silent_p.P11P	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	57					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.E57K(1)|p.E57Q(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CTCTCTCCTTCGGTGATATCA	0.393																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(169-171)GAA>CAA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						203.0	200.0	201.0					7																	144380018		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144380018C>G	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.169G>C	7.37:g.144380018C>G	ENSP00000353165:p.Glu57Gln					TPK1_uc003weo.2_Silent_p.P11P|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.E57Q|TPK1_uc003wes.2_RNA	p.E57Q	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			4	272	-			57					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.169G>C	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242932	0.39598	.	.	ENSG00000196511	ENST00000360057;ENST00000378099;ENST00000552881	D;D;D	0.83075	-1.68;-1.68;-1.68	6.02	4.21	0.49690	Thiamin pyrophosphokinase, catalytic domain (3);	0.258640	0.44688	N	0.000429	T	0.78861	0.4350	M	0.70275	2.135	0.80722	D	1	B;B	0.21071	0.018;0.051	B;B	0.21360	0.034;0.028	T	0.69811	-0.5044	10	0.18710	T	0.47	-13.4417	8.7148	0.34405	0.0:0.7694:0.1505:0.0801	.	57;57	F5GZG6;Q9H3S4	.;TPK1_HUMAN	Q	57	ENSP00000353165:E57Q;ENSP00000367339:E57Q;ENSP00000448655:E57Q	ENSP00000353165:E57Q	E	-	1	0	TPK1	144010951	0.785000	0.28726	0.725000	0.30721	0.978000	0.69477	1.162000	0.31786	0.874000	0.35823	0.655000	0.94253	GAA		PASS	0.393	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		66	443	66	443	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149476125	149476125	+	RNA	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr7:149476125A>G	ENST00000378016.2	+	0	1003							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGATGACTTCATGGAGCCAGG	0.627																																						uc010lpk.2																			0					0						c.(1003-1005)ATG>GTG		SCO-spondin precursor							50.0	58.0	55.0					7																	149476125		1938	4140	6078			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149476125A>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149476125A>G						SSPO_uc010lpl.1_Intron	p.M335V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		8	1003	+	Melanoma(164;0.165)|Ovarian(565;0.177)		335			VWFD 1.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.1003A>G																																																																																					PASS	0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				26	51	26	51	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52323844	52323844	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr8:52323844C>T	ENST00000356297.4	-	16	2128	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	PXDNL_ENST00000543296.1_Silent_p.V676V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	676					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.V676V(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)				GCCCCTGCTTCACACGTTCCC	0.512																																						uc003xqu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2026-2028)GTG>GTA		peroxidasin homolog-like precursor							58.0	59.0	58.0					8																	52323844		2011	4180	6191	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52323844C>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.2028G>A	8.37:g.52323844C>T						PXDNL_uc003xqt.3_5'Flank	p.V676V	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			16	2129	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	676					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2028G>A	CCDS47855.1																																																																																				PASS	0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		16	15	16	15	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107773334	107773334	+	Silent	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr8:107773334C>G	ENST00000311955.3	-	2	1131	c.1077G>C	c.(1075-1077)ctG>ctC	p.L359L		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.L359L(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CAAAGTCTACCAGTCCATGTT	0.438																																						uc003ymm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1075-1077)CTG>CTC		actin-binding Rho activating protein							195.0	178.0	184.0					8																	107773334		2203	4300	6503	SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773334C>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1077G>C	8.37:g.107773334C>G							p.L359L	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	1131	-			359			Interaction with actin (By similarity).			Silent	SNP	ENST00000311955.3	37	c.1077G>C	CCDS6305.1																																																																																				PASS	0.438	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		10	379	10	379	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164667	139164667	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr8:139164667G>C	ENST00000395297.1	-	13	2221	c.2051C>G	c.(2050-2052)tCt>tGt	p.S684C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	684								p.S684C(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)			GCCTGAATCAGATATGATGGA	0.527										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2050-2052)TCT>TGT		hypothetical protein LOC51059							72.0	71.0	71.0					8																	139164667		1935	4124	6059	SO:0001583	missense	51059							g.chr8:139164667G>C	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.2051C>G	8.37:g.139164667G>C	ENSP00000378710:p.Ser684Cys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.S585C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S246C|FAM135B_uc003yvb.2_Missense_Mutation_p.S246C	p.S684C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2222	-	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)		684					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2051C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110321	0.77210	.	.	ENSG00000147724	ENST00000395297	T	0.57907	0.37	5.65	5.65	0.86999	.	0.125711	0.56097	D	0.000037	T	0.74756	0.3758	M	0.79258	2.445	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;0.998	T	0.76926	-0.2778	10	0.72032	D	0.01	-19.7521	18.7244	0.91708	0.0:0.0:1.0:0.0	.	684;684;684	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	684	ENSP00000378710:S684C	ENSP00000276737:S684C	S	-	2	0	FAM135B	139233849	1.000000	0.71417	0.781000	0.31783	0.498000	0.33706	9.624000	0.98398	2.678000	0.91216	0.655000	0.94253	TCT		PASS	0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		25	158	25	158	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140630669	140630669	+	Silent	SNP	G	G	A	rs140285421	byFrequency	TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr8:140630669G>A	ENST00000520439.1	-	2	1020	c.957C>T	c.(955-957)agC>agT	p.S319S	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.S319S	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	319					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S319S(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CAAGCTTGGCGCTGAAGGAGT	0.577																																						uc003yvf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(955-957)AGC>AGT		potassium channel, subfamily K, member 9		G		1,4405	2.1+/-5.4	0,1,2202	76.0	77.0	77.0		957	0.6	0.4	8	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNK9	NM_016601.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		319/375	140630669	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630669G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.957C>T	8.37:g.140630669G>A						KCNK9_uc003yvg.1_Silent_p.S319S|KCNK9_uc003yve.1_RNA	p.S319S	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	1021	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	319			Cytoplasmic (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.957C>T	CCDS6377.1																																																																																				PASS	0.577	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		42	89	42	89	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143957739	143957739	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr8:143957739G>A	ENST00000292427.4	-	5	904	c.872C>T	c.(871-873)gCg>gTg	p.A291V	CYP11B1_ENST00000517471.1_Missense_Mutation_p.A291V|CYP11B1_ENST00000377675.3_Missense_Mutation_p.A362V	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	291					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.A291V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAGGAGCTCCGCCACGATGCT	0.592									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(871-873)GCG>GTG		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						125.0	103.0	110.0					8																	143957739		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957739G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.872C>T	8.37:g.143957739G>A	ENSP00000292427:p.Ala291Val					CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'UTR|CYP11B1_uc003yxj.2_Missense_Mutation_p.A291V|CYP11B1_uc010mey.2_Missense_Mutation_p.A362V	p.A291V	NM_000497	NP_000488	P15538	C11B1_HUMAN			5	879	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		291					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.872C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.504502	0.64410	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69175	-0.38;2.75;-0.38	4.1	3.2	0.36748	.	0.138417	0.32802	N	0.005635	T	0.72301	0.3443	M	0.64997	1.995	0.21416	N	0.999695	D;D;D	0.71674	0.998;0.986;0.985	P;P;P	0.60173	0.87;0.87;0.71	T	0.63056	-0.6722	10	0.16420	T	0.52	.	11.6891	0.51505	0.0:0.1814:0.8186:0.0	.	362;291;291	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	V	291;291;362	ENSP00000292427:A291V;ENSP00000428043:A291V;ENSP00000366903:A362V	ENSP00000292427:A291V	A	-	2	0	CYP11B1	143954741	0.892000	0.30473	0.003000	0.11579	0.006000	0.05464	1.422000	0.34826	0.794000	0.33899	0.650000	0.86243	GCG		PASS	0.592	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			36	38	36	38	---	---	---	---
PPP1R16A	84988	broad.mit.edu	37	8	145727009	145727009	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr8:145727009G>A	ENST00000292539.4	+	11	2227	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.S437N|CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000528431.1_5'Flank|GPT_ENST00000394955.2_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	437						plasma membrane (GO:0005886)		p.S437N(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TACCAGCTGAGCCCCCTGGAC	0.652																																						uc003zdd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)AGC>AAC		protein phosphatase 1, regulatory (inhibitor)							61.0	48.0	52.0					8																	145727009		2198	4297	6495	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145727009G>A		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1310G>A	8.37:g.145727009G>A	ENSP00000292539:p.Ser437Asn					uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.S437N|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	p.S437N	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	2223	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		437					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.1310G>A	CCDS6429.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.506|9.506	1.104374|1.104374	0.20632|0.20632	.|.	.|.	ENSG00000160972|ENSG00000160972	ENST00000528430|ENST00000292539;ENST00000435887	.|T;T	.|0.69685	.|-0.42;-0.42	4.34|4.34	3.43|3.43	0.39272|0.39272	.|.	.|0.372678	.|0.30392	.|N	.|0.009722	T|T	0.47507|0.47507	0.1449|0.1449	N|N	0.22421|0.22421	0.69|0.69	0.31438|0.31438	N|N	0.672297|0.672297	.|B	.|0.11235	.|0.004	.|B	.|0.08055	.|0.003	T|T	0.46512|0.46512	-0.9186|-0.9186	5|10	.|0.20046	.|T	.|0.44	.|.	9.7376|9.7376	0.40397|0.40397	0.0:0.4105:0.5895:0.0|0.0:0.4105:0.5895:0.0	.|.	.|437	.|Q96I34	.|PP16A_HUMAN	T|N	105|437	.|ENSP00000292539:S437N;ENSP00000391126:S437N	.|ENSP00000292539:S437N	A|S	+|+	1|2	0|0	PPP1R16A|PPP1R16A	145697817|145697817	0.699000|0.699000	0.27786|0.27786	0.966000|0.966000	0.40874|0.40874	0.127000|0.127000	0.20565|0.20565	1.120000|1.120000	0.31271|0.31271	1.940000|1.940000	0.56252|0.56252	0.462000|0.462000	0.41574|0.41574	GCC|AGC		PASS	0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		9	19	9	19	---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32526089	32526089	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:32526089G>T	ENST00000379883.2	-	1	233	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DDX58_ENST00000379868.1_De_novo_Start_OutOfFrame|DDX58_ENST00000545044.1_De_novo_Start_OutOfFrame|DDX58_ENST00000379882.1_Missense_Mutation_p.L26M	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	26	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.L26M(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATGTAGCTCAGGATGTAGGTA	0.572																																						uc003zra.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|pancreas(1)	4						c.(76-78)CTG>ATG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							79.0	71.0	74.0					9																	32526089		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32526089G>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.76C>A	9.37:g.32526089G>T	ENSP00000369213:p.Leu26Met					DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.L26M|DDX58_uc011lnr.1_Translation_Start_Site	p.L26M	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	1	234	-			26			CARD 1.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.76C>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780217	0.31502	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542960	T;T	0.09538	2.97;3.26	4.02	2.18	0.27775	.	0.800711	0.10745	N	0.638962	T	0.27349	0.0671	M	0.75447	2.3	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.944	T	0.03673	-1.1014	10	0.36615	T	0.2	-3.3296	6.7661	0.23568	0.0948:0.0:0.73:0.1752	.	26;26	O95786-2;O95786	.;DDX58_HUMAN	M	26	ENSP00000369212:L26M;ENSP00000369213:L26M	ENSP00000369212:L26M	L	-	1	2	DDX58	32516089	1.000000	0.71417	0.981000	0.43875	0.093000	0.18481	1.156000	0.31712	0.659000	0.30945	-0.261000	0.10672	CTG		PASS	0.572	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		18	100	18	100	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606183	84606183	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:84606183G>T	ENST00000344803.2	+	4	845	c.798G>T	c.(796-798)ttG>ttT	p.L266F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	266					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L266F(2)									AAGCCAGTTTGTCTCTGAACA	0.512																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(796-798)TTG>TTT		hypothetical protein LOC389763							319.0	286.0	296.0					9																	84606183		1954	4154	6108	SO:0001583	missense	389763					integral to membrane		g.chr9:84606183G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.798G>T	9.37:g.84606183G>T	ENSP00000341988:p.Leu266Phe						p.L266F	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	845	+			266						Missense_Mutation	SNP	ENST00000344803.2	37	c.798G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	2.404	-0.336901	0.05278	.	.	ENSG00000214929	ENST00000344803	T	0.06528	3.29	2.54	-5.09	0.02920	.	2.240610	0.03886	N	0.277800	T	0.06096	0.0158	L	0.54323	1.7	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.36335	-0.9752	10	0.29301	T	0.29	-0.089	2.1853	0.03885	0.2136:0.4281:0.214:0.1443	.	266	Q6ZQQ2	F75D1_HUMAN	F	266	ENSP00000341988:L266F	ENSP00000341988:L266F	L	+	3	2	FAM75D1	83796003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.093000	0.15086	-1.608000	0.01587	-2.260000	0.00280	TTG		PASS	0.512	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		65	537	65	537	---	---	---	---
FBP2	8789	broad.mit.edu	37	9	97333768	97333768	+	Silent	SNP	G	G	C	rs144416702		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:97333768G>C	ENST00000375337.3	-	4	609	c.543C>G	c.(541-543)ggC>ggG	p.G181G		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	181					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)	p.G181G(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				AGAGGTCCACGCCTTGCCCTG	0.562																																						uc004auv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(541-543)GGC>GGG		fructose-1,6-bisphosphatase 2							101.0	85.0	91.0					9																	97333768		2203	4300	6503	SO:0001819	synonymous_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333768G>C	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.543C>G	9.37:g.97333768G>C						uc004auu.2_Intron	p.G181G	NM_003837	NP_003828	O00757	F16P2_HUMAN			4	610	-		Acute lymphoblastic leukemia(62;0.136)	181					Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	c.543C>G	CCDS6711.1																																																																																				PASS	0.562	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		24	126	24	126	---	---	---	---
NUTM2G	441457	broad.mit.edu	37	9	99699495	99699495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:99699495G>T	ENST00000372322.3	+	5	1153	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	NUTM2G_ENST00000354649.3_Nonsense_Mutation_p.E378*|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	378								p.E378*(2)									GATCCCCCCTGAAGTGGTGCA	0.652																																						uc004awq.1																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(1132-1134)GAA>TAA		hypothetical protein LOC441457							39.0	47.0	44.0					9																	99699495		1887	4110	5997	SO:0001587	stop_gained	441457							g.chr9:99699495G>T		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1132G>T	9.37:g.99699495G>T	ENSP00000361397:p.Glu378*					HIATL2_uc004awr.1_Intron	p.E378*	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			5	1847	+		Acute lymphoblastic leukemia(62;0.0527)	378					A6NNI5|Q5VZR3	Nonsense_Mutation	SNP	ENST00000372322.3	37	c.1132G>T	CCDS55329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|.	13.27|13.27	2.187153|2.187153	0.38609|0.38609	.|.	.|.	ENSG00000188152|ENSG00000188152	ENST00000417159|ENST00000354649;ENST00000372322;ENST00000375230	.|.	.|.	.|.	1.33|1.33	0.378|0.378	0.16204|0.16204	.|.	.|0.425852	.|0.22503	.|N	.|0.059220	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.66056	.|D	.|0.02	.|.	3.6946|3.6946	0.08360|0.08360	0.2614:0.0:0.7386:0.0|0.2614:0.0:0.7386:0.0	.|.	.|.	.|.	.|.	.|X	-1|378;378;259	.|.	.|ENSP00000346670:E378X	.|E	+|+	.|1	.|0	FAM22G|FAM22G	98739316|98739316	0.707000|0.707000	0.27866|0.27866	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	2.595000|2.595000	0.46197|0.46197	0.155000|0.155000	0.19261|0.19261	-0.370000|-0.370000	0.07254|0.07254	.|GAA		PASS	0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		31	127	31	127	---	---	---	---
NUTM2G	441457	broad.mit.edu	37	9	99699561	99699561	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:99699561G>A	ENST00000372322.3	+	5	1219	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	NUTM2G_ENST00000354649.3_Missense_Mutation_p.E400K|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	400								p.E400K(2)									GGACACAGGGGAGCCTGAGGG	0.607																																						uc004awq.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1198-1200)GAG>AAG		hypothetical protein LOC441457							35.0	47.0	44.0					9																	99699561		1888	4105	5993	SO:0001583	missense	441457							g.chr9:99699561G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1198G>A	9.37:g.99699561G>A	ENSP00000361397:p.Glu400Lys					HIATL2_uc004awr.1_Intron	p.E400K	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			5	1913	+		Acute lymphoblastic leukemia(62;0.0527)	400					A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.1198G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.260906	0.23051	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.27104	1.69;2.48	1.33	0.238	0.15480	.	2.096150	0.01955	N	0.042926	T	0.42899	0.1223	L	0.48986	1.54	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.15292	-1.0442	10	0.72032	D	0.01	.	5.095	0.14729	0.0:0.381:0.619:0.0	.	400	Q5VZR2-2	.	K	400;400;249;281	ENSP00000346670:E400K;ENSP00000361397:E400K	ENSP00000346670:E400K	E	+	1	0	FAM22G	98739382	0.214000	0.23563	0.010000	0.14722	0.025000	0.11179	0.411000	0.21115	0.105000	0.17753	0.473000	0.43528	GAG		PASS	0.607	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		25	90	25	90	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100124529	100124529	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:100124529G>C	ENST00000357054.1	+	39	4688	c.3753G>C	c.(3751-3753)caG>caC	p.Q1251H	CCDC180_ENST00000375202.2_Missense_Mutation_p.Q1280H|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.Q1280H|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q1251H(1)|p.Q1280H(1)									ATCCGTCCCAGACAGGTAGAG	0.597																																						uc011lut.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(4255-4257)CAG>CAC		hypothetical protein LOC57653							135.0	125.0	128.0					9																	100124529		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100124529G>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3753G>C	9.37:g.100124529G>C	ENSP00000349562:p.Gln1251His					KIAA1529_uc004axe.1_Missense_Mutation_p.Q1251H|KIAA1529_uc004axg.1_Missense_Mutation_p.Q1280H|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.Q436H	p.Q1419H	NM_020893	NP_065944					40	5030	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4257G>C		.	.	.	.	.	.	.	.	.	.	G	11.90	1.775306	0.31411	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08720	3.08;3.06;3.06	4.35	1.47	0.22746	.	0.787155	0.11367	N	0.571320	T	0.16428	0.0395	L	0.60455	1.87	0.80722	D	1	P;P	0.52061	0.95;0.95	P;P	0.57620	0.824;0.824	T	0.13202	-1.0518	10	0.34782	T	0.22	-3.0201	6.2003	0.20573	0.3261:0.0:0.6739:0.0	.	1419;1251	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	H	1251;1280;1280	ENSP00000349562:Q1251H;ENSP00000364348:Q1280H;ENSP00000434727:Q1280H	ENSP00000349562:Q1251H	Q	+	3	2	C9orf174	99164350	0.968000	0.33430	0.950000	0.38849	0.805000	0.45488	0.168000	0.16622	0.342000	0.23796	0.655000	0.94253	CAG		PASS	0.597	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		41	235	41	235	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104390665	104390665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:104390665C>A	ENST00000361820.3	-	4	2971	c.2371G>T	c.(2371-2373)Gga>Tga	p.G791*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	791					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G791*(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAGCGGAATCCTTGGGAAGGA	0.343																																						uc004bbp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2371-2373)GGA>TGA		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						90.0	80.0	83.0					9																	104390665		2203	4300	6503	SO:0001587	stop_gained	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104390665C>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2371G>T	9.37:g.104390665C>A	ENSP00000355155:p.Gly791*					GRIN3A_uc004bbq.1_Nonsense_Mutation_p.G791*	p.G791*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			4	2972	-		Acute lymphoblastic leukemia(62;0.0568)	791			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Nonsense_Mutation	SNP	ENST00000361820.3	37	c.2371G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	44	11.244334	0.99536	.	.	ENSG00000198785	ENST00000361820	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	791	.	ENSP00000355155:G791X	G	-	1	0	GRIN3A	103430486	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	GGA		PASS	0.343	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			8	112	8	112	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109746651	109746651	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:109746651C>A	ENST00000277225.5	+	10	7306	c.7017C>A	c.(7015-7017)caC>caA	p.H2339Q	ZNF462_ENST00000542028.1_Missense_Mutation_p.H296Q|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.H1245Q|ZNF462_ENST00000457913.1_Missense_Mutation_p.H2399Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2339					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H2339Q(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGACCAAGCACACGGAGGAAC	0.537																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(7015-7017)CAC>CAA		zinc finger protein 462							109.0	99.0	102.0					9																	109746651		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746651C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7017C>A	9.37:g.109746651C>A	ENSP00000277225:p.His2339Gln					ZNF462_uc010mto.2_Missense_Mutation_p.H2248Q|ZNF462_uc004bda.2_Missense_Mutation_p.H2247Q|ZNF462_uc011lvz.1_Missense_Mutation_p.H296Q|uc004bdc.1_Intron	p.H2339Q	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			10	7306	+			2339			C2H2-type 26.		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.7017C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011626	0.35511	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.120894	0.64402	D	0.000012	T	0.19087	0.0458	N	0.25060	0.705	0.37184	D	0.903629	B;B	0.23854	0.092;0.073	B;B	0.25884	0.064;0.011	T	0.13899	-1.0492	10	0.18710	T	0.47	.	15.3018	0.73958	0.1399:0.8601:0.0:0.0	.	2399;2339	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Q	2339;2399;1282;1245;296	ENSP00000277225:H2339Q;ENSP00000414570:H2399Q;ENSP00000363818:H1282Q;ENSP00000397306:H1245Q;ENSP00000439771:H296Q	ENSP00000277225:H2339Q	H	+	3	2	ZNF462	108786472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.699000	0.37804	2.854000	0.98071	0.655000	0.94253	CAC		PASS	0.537	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		19	178	19	178	---	---	---	---
STRBP	55342	broad.mit.edu	37	9	125921449	125921449	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:125921449C>T	ENST00000348403.5	-	9	1190	c.761G>A	c.(760-762)tGt>tAt	p.C254Y	STRBP_ENST00000447404.2_Missense_Mutation_p.C254Y|STRBP_ENST00000360998.3_Missense_Mutation_p.C240Y	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	254	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.C254Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AGGTCTATTACAAGTACCTAT	0.398																																						uc004bns.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(760-762)TGT>TAT		spermatid perinuclear RNA binding protein							83.0	84.0	84.0					9																	125921449		2203	4299	6502	SO:0001583	missense	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125921449C>T	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.761G>A	9.37:g.125921449C>T	ENSP00000321347:p.Cys254Tyr					STRBP_uc004bnt.2_Missense_Mutation_p.C72Y|STRBP_uc004bnu.2_Missense_Mutation_p.C240Y|STRBP_uc004bnv.2_Missense_Mutation_p.C254Y	p.C254Y	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			9	1191	-			254			DZF.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.761G>A	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229694	0.79688	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.41400	1.0;1.0;1.0	5.66	5.66	0.87406	DZF (2);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.62581	-0.6824	10	0.59425	D	0.04	-7.8364	19.7401	0.96223	0.0:1.0:0.0:0.0	.	254	Q96SI9	STRBP_HUMAN	Y	254;254;240	ENSP00000415968:C254Y;ENSP00000321347:C254Y;ENSP00000354271:C240Y	ENSP00000321347:C254Y	C	-	2	0	STRBP	124961270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.067000	0.71193	2.663000	0.90544	0.585000	0.79938	TGT		PASS	0.398	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			33	129	33	129	---	---	---	---
NAIF1	203245	broad.mit.edu	37	9	130829300	130829300	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:130829300C>G	ENST00000373078.4	-	1	300	c.81G>C	c.(79-81)aaG>aaC	p.K27N	SLC25A25_ENST00000373068.2_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	27	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K27N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCAGGTGCTTCTTCAGCTCCA	0.622																																						uc004bta.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)AAG>AAC		nuclear apoptosis inducing factor 1							112.0	111.0	111.0					9																	130829300		2203	4300	6503	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829300C>G	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.81G>C	9.37:g.130829300C>G	ENSP00000362170:p.Lys27Asn					NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	p.K27N	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN			1	300	-			27			Required for nuclear localization and apoptosis-inducing activity.		B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.81G>C	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261105	0.23051	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	2.34	0.29019	.	0.176634	0.50627	D	0.000111	T	0.20292	0.0488	N	0.03608	-0.345	0.35228	D	0.776648	B	0.23128	0.08	B	0.20184	0.028	T	0.10200	-1.0640	9	0.27785	T	0.31	-10.3165	6.5577	0.22469	0.0:0.6238:0.1396:0.2366	.	27	Q69YI7	NAIF1_HUMAN	N	27	.	ENSP00000362170:K27N	K	-	3	2	NAIF1	129869121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.868000	0.27982	0.595000	0.29777	-0.253000	0.11424	AAG		PASS	0.622	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		72	308	72	308	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131381253	131381253	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:131381253G>C	ENST00000372731.4	+	43	5799	c.5689G>C	c.(5689-5691)Gat>Cat	p.D1897H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1902H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D1902H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1897					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1897H(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCCAGCGAAGATTATGGCGA	0.507																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(5689-5691)GAT>CAT		spectrin, alpha, non-erythrocytic 1							83.0	78.0	80.0					9																	131381253		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131381253G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5689G>C	9.37:g.131381253G>C	ENSP00000361816:p.Asp1897His					SPTAN1_uc004bvm.3_Missense_Mutation_p.D1902H|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1877H	p.D1897H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			43	5802	+			1897			Spectrin 20.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5689G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800730	0.70567	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.39592	1.07;1.07;1.07	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.948;0.987;0.993	T	0.77757	-0.2468	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1877;1902;1897	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	1902;1897;1902;1877;146	ENSP00000350882:D1902H;ENSP00000361816:D1897H;ENSP00000361824:D1902H	ENSP00000350882:D1902H	D	+	1	0	SPTAN1	130421074	1.000000	0.71417	0.623000	0.29173	0.985000	0.73830	9.444000	0.97578	2.788000	0.95919	0.650000	0.86243	GAT		PASS	0.507	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	93	4	93	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131733096	131733096	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:131733096G>T	ENST00000372577.2	+	11	993	c.972G>T	c.(970-972)ttG>ttT	p.L324F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	324					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.L324F(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGTGCTTTTGGCCTGGGCTC	0.488																																						uc004bws.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(970-972)TTG>TTT		nucleoporin 188kDa							184.0	166.0	172.0					9																	131733096		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131733096G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.972G>T	9.37:g.131733096G>T	ENSP00000361658:p.Leu324Phe						p.L324F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			11	994	+			324					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.972G>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835781	0.71373	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.70869	-0.52	5.92	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	L	0.32530	0.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.78904	-0.2020	10	0.87932	D	0	-6.1643	13.3539	0.60617	0.1516:0.0:0.8484:0.0	.	324	Q5SRE5	NU188_HUMAN	F	213;324	ENSP00000361658:L324F	ENSP00000349125:L213F	L	+	3	2	NUP188	130772917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.785000	0.55424	1.486000	0.48398	0.561000	0.74099	TTG		PASS	0.488	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			33	159	33	159	---	---	---	---
TOR1B	27348	broad.mit.edu	37	9	132571783	132571783	+	Missense_Mutation	SNP	T	T	C	rs201490031		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr9:132571783T>C	ENST00000259339.2	+	5	992	c.932T>C	c.(931-933)aTg>aCg	p.M311T		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	311					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.M311T(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GCAGAGGAAATGACGTTTTTC	0.512																																						uc004byk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)ATG>ACG		torsin family 1, member B (torsin B) precursor							111.0	106.0	107.0					9																	132571783		2203	4300	6503	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132571783T>C	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.932T>C	9.37:g.132571783T>C	ENSP00000259339:p.Met311Thr						p.M311T	NM_014506	NP_055321	O14657	TOR1B_HUMAN			5	992	+		Ovarian(14;0.0586)	311						Missense_Mutation	SNP	ENST00000259339.2	37	c.932T>C	CCDS6929.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	13.90	2.375431	0.42105	.	.	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.68025	-0.3	5.57	5.57	0.84162	.	0.083629	0.85682	D	0.000000	T	0.65668	0.2713	M	0.72624	2.21	0.58432	D	0.999995	B	0.29590	0.25	B	0.22753	0.041	T	0.67409	-0.5678	10	0.62326	D	0.03	-13.0814	14.92	0.70829	0.0:0.0:0.0:1.0	.	311	O14657	TOR1B_HUMAN	T	311;280	ENSP00000259339:M311T	ENSP00000259339:M311T	M	+	2	0	TOR1B	131611604	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.660000	0.83776	2.119000	0.64992	0.533000	0.62120	ATG		PASS	0.512	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		32	155	32	155	---	---	---	---
IDI1	3422	broad.mit.edu	37	10	1089329	1089329	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:1089329T>A	ENST00000381344.3	-	3	484	c.318A>T	c.(316-318)ttA>ttT	p.L106F	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|RNU7-163P_ENST00000459467.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	49	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)	p.L106F(1)		large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CTCGATGCAATAATCCTGAAA	0.353																																						uc001iga.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)TTA>TTT		isopentenyl-diphosphate delta isomerase							76.0	77.0	77.0					10																	1089329		2203	4300	6503	SO:0001583	missense	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1089329T>A	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.318A>T	10.37:g.1089329T>A	ENSP00000370748:p.Leu106Phe					C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Missense_Mutation_p.L50F|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Missense_Mutation_p.L50F	p.L106F	NM_004508	NP_004499	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	3	436	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	49			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	ENST00000381344.3	37	c.318A>T	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334484	0.60853	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	.	.	.	4.57	-1.05	0.10036	.	0.000000	0.64402	D	0.000001	T	0.79161	0.4399	H	0.95043	3.615	0.58432	D	0.999997	D	0.76494	0.999	D	0.66979	0.948	T	0.75297	-0.3367	9	0.87932	D	0	-7.2722	5.5858	0.17274	0.1329:0.3924:0.0:0.4747	.	106	Q13907-2	.	F	106;20;49	.	ENSP00000370748:L106F	L	-	3	2	IDI1	1079329	0.383000	0.25156	0.885000	0.34714	0.833000	0.47200	-0.101000	0.10973	-0.410000	0.07542	0.482000	0.46254	TTA		PASS	0.353	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		11	114	11	114	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8115958	8115958	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:8115958C>G	ENST00000346208.3	+	6	1759	c.1304C>G	c.(1303-1305)cCc>cGc	p.P435R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.P436R			P23771	GATA3_HUMAN	GATA binding protein 3	435					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P436R(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACACCACCCCTCCAGCATG	0.627			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2				Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - Missense(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(1303-1305)CCC>CGC		GATA binding protein 3 isoform 2							85.0	70.0	75.0					10																	8115958		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115958C>G	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1304C>G	10.37:g.8115958C>G	ENSP00000341619:p.Pro435Arg					GATA3_uc001ijz.2_Missense_Mutation_p.P436R	p.P435R	NM_002051	NP_002042	P23771	GATA3_HUMAN			6	1861	+			435					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1304C>G	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850194	0.32699	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96619	-4.07;-4.05	5.59	5.59	0.84812	.	0.051253	0.85682	D	0.000000	D	0.96950	0.9004	L	0.44542	1.39	0.80722	D	1	P;D	0.59357	0.718;0.985	B;P	0.62014	0.298;0.897	D	0.97024	0.9745	10	0.52906	T	0.07	-18.8359	19.5966	0.95541	0.0:1.0:0.0:0.0	.	435;436	P23771;P23771-2	GATA3_HUMAN;.	R	436;435	ENSP00000368632:P436R;ENSP00000341619:P435R	ENSP00000341619:P435R	P	+	2	0	GATA3	8155964	0.997000	0.39634	0.914000	0.36105	0.147000	0.21601	4.756000	0.62205	2.622000	0.88805	0.561000	0.74099	CCC		PASS	0.627	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		10	76	10	76	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15729992	15729992	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:15729992A>T	ENST00000378076.3	-	3	742	c.389T>A	c.(388-390)tTc>tAc	p.F130Y		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	130					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.F130Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATTGGATTTGAACTCGATAGG	0.408																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(388-390)TTC>TAC		integrin, alpha 8 precursor							215.0	192.0	200.0					10																	15729992		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15729992A>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.389T>A	10.37:g.15729992A>T	ENSP00000367316:p.Phe130Tyr					ITGA8_uc010qcb.1_Missense_Mutation_p.F130Y	p.F130Y	NM_003638	NP_003629	P53708	ITA8_HUMAN			3	389	-			130			Extracellular (Potential).|FG-GAP 2.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.389T>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618860	0.46736	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.54279	0.58	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	L	0.56396	1.775	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.995	T	0.61950	-0.6957	10	0.02654	T	1	.	15.5982	0.76602	1.0:0.0:0.0:0.0	.	130;130	F5H818;P53708	.;ITA8_HUMAN	Y	130	ENSP00000367316:F130Y	ENSP00000367316:F130Y	F	-	2	0	ITGA8	15769998	1.000000	0.71417	0.978000	0.43139	0.241000	0.25554	7.005000	0.76323	2.088000	0.63022	0.402000	0.26972	TTC		PASS	0.408	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		58	265	58	265	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16990574	16990574	+	Silent	SNP	A	A	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:16990574A>T	ENST00000377833.4	-	35	5177	c.5112T>A	c.(5110-5112)ccT>ccA	p.P1704P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1704	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P1704P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGATGTGATAGGATGGGGCA	0.507																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(5110-5112)CCT>CCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						97.0	84.0	88.0					10																	16990574		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16990574A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5112T>A	10.37:g.16990574A>T							p.P1704P	NM_001081	NP_001072	O60494	CUBN_HUMAN			35	5164	-			1704			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.5112T>A	CCDS7113.1																																																																																				PASS	0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	57	11	57	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24874554	24874554	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:24874554T>C	ENST00000396432.2	-	26	5150	c.4664A>G	c.(4663-4665)cAg>cGg	p.Q1555R		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1554					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.Q1554R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAGGGAGGCCTGGGAAGACGT	0.522																																						uc001isb.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(4663-4665)CAG>CGG		Rho GTPase activating protein 21							70.0	74.0	73.0					10																	24874554		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874554T>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4664A>G	10.37:g.24874554T>C	ENSP00000379709:p.Gln1555Arg					ARHGAP21_uc010qdb.1_RNA	p.Q1555R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	5151	-			1554					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4664A>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629633	0.67015	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.11063	2.81	5.01	0.735	0.18300	.	0.624103	0.17507	N	0.171774	T	0.08758	0.0217	L	0.56769	1.78	0.80722	D	1	B	0.32245	0.361	B	0.21708	0.036	T	0.26087	-1.0113	10	0.16420	T	0.52	.	8.8173	0.35004	0.1109:0.0:0.2552:0.6339	.	1554	Q5T5U3	RHG21_HUMAN	R	1555;1004	ENSP00000379709:Q1555R	ENSP00000379709:Q1555R	Q	-	2	0	ARHGAP21	24914560	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	1.872000	0.39549	0.213000	0.20722	0.482000	0.46254	CAG		PASS	0.522	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		28	221	28	221	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26359049	26359049	+	Silent	SNP	C	C	T	rs570749940		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:26359049C>T	ENST00000265944.5	+	13	1346	c.1180C>T	c.(1180-1182)Cta>Tta	p.L394L	MYO3A_ENST00000543632.1_Silent_p.L394L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	394	Myosin motor.				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.L394I(1)|p.L394L(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						GCATTCCAAACTATATATTGG	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		16673	0.0		0.0	False		,,,				2504	0.001					uc001isn.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.L394I(1)	lung(1)|central_nervous_system(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1180-1182)CTA>TTA		myosin IIIA							59.0	60.0	59.0					10																	26359049		2203	4296	6499	SO:0001819	synonymous_variant	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.chr10:26359049C>T	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.1180C>T	10.37:g.26359049C>T						MYO3A_uc009xko.1_Silent_p.L394L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.L394L	p.L394L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			13	1540	+			394			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1180C>T	CCDS7148.1																																																																																				PASS	0.303	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		13	104	13	104	---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48414241	48414241	+	Missense_Mutation	SNP	G	G	T	rs374479283		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:48414241G>T	ENST00000249598.1	-	2	786	c.627C>A	c.(625-627)agC>agA	p.S209R		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	209					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S209R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GCTTCACGGCGCTGGACACTT	0.572																																						uc001jfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(625-627)AGC>AGA		growth differentiation factor 2 precursor							68.0	67.0	67.0					10																	48414241		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414241G>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.627C>A	10.37:g.48414241G>T	ENSP00000249598:p.Ser209Arg						p.S209R	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	790	-			209					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.627C>A	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	4.302	0.055256	0.08291	.	.	ENSG00000128802	ENST00000249598	T	0.66099	-0.19	5.59	-11.2	0.00127	Transforming growth factor-beta, N-terminal (1);	0.306795	0.45606	N	0.000346	T	0.46678	0.1405	L	0.59436	1.845	0.25463	N	0.987899	B	0.18863	0.031	B	0.21151	0.033	T	0.10382	-1.0632	10	0.42905	T	0.14	.	10.9766	0.47469	0.3162:0.1734:0.5104:0.0	.	209	Q9UK05	GDF2_HUMAN	R	209	ENSP00000249598:S209R	ENSP00000249598:S209R	S	-	3	2	GDF2	48034247	0.000000	0.05858	0.074000	0.20217	0.612000	0.37316	-1.989000	0.01480	-2.813000	0.00347	-0.194000	0.12790	AGC		PASS	0.572	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		29	155	29	155	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55626539	55626539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:55626539C>A	ENST00000320301.6	-	27	3974	c.3580G>T	c.(3580-3582)Gga>Tga	p.G1194*	PCDH15_ENST00000395432.2_Nonsense_Mutation_p.G1157*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.G1194*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.G1123*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.G1201*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.G805*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.G1194*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.G1199*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.G1172*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.G1201*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.G1194*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1194	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G1199*(2)|p.G1194*(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)				ACTACAAATCCTTCTTTTCCC	0.378										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Nonsense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3580-3582)GGA>TGA		protocadherin 15 isoform CD1-4 precursor							166.0	149.0	155.0					10																	55626539		2203	4300	6503	SO:0001587	stop_gained	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.chr10:55626539C>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.3580G>T	10.37:g.55626539C>A	ENSP00000322604:p.Gly1194*	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Nonsense_Mutation_p.G1199*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.G1194*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.G1206*|PCDH15_uc010qht.1_Nonsense_Mutation_p.G1201*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.G1194*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.G1194*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.G1157*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.G1123*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.G1199*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.G1194*|PCDH15_uc010qia.1_Nonsense_Mutation_p.G1172*|PCDH15_uc010qib.1_Nonsense_Mutation_p.G1172*	p.G1194*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			27	3975	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1194			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.3580G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	45	11.899365	0.99615	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.81	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.0316	0.53401	0.0:0.8594:0.0:0.1406	.	.	.	.	X	1201;1199;1194;1194;805;1201;1157;1194;1172;1194;1194;1199;1123	.	ENSP00000322604:G1194X	G	-	1	0	PCDH15	55296545	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.590000	0.67530	0.814000	0.34374	-0.136000	0.14681	GGA		PASS	0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		26	208	26	208	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75294514	75294514	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:75294514T>C	ENST00000339859.4	-	11	1259	c.1159A>G	c.(1159-1161)Atc>Gtc	p.I387V	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.I237V|USP54_ENST00000408019.1_Missense_Mutation_p.I387V|USP54_ENST00000497106.1_Intron|USP54_ENST00000319786.7_Missense_Mutation_p.I387V			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	387					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.I387V(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCACTTGAGATGGAGGGCTCC	0.473																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|lung(2)|kidney(1)	6						c.(1159-1161)ATC>GTC		ubiquitin specific peptidase 54							137.0	130.0	132.0					10																	75294514		1925	4136	6061	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75294514T>C	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1159A>G	10.37:g.75294514T>C	ENSP00000345216:p.Ile387Val					USP54_uc001jum.2_RNA|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Missense_Mutation_p.I387V|USP54_uc010qkl.1_Missense_Mutation_p.I387V	p.I387V	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			10	1176	-	Prostate(51;0.0112)		387					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.1159A>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785196	0.90282	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.26660	1.74;1.74;1.72	5.39	5.39	0.77823	.	.	.	.	.	T	0.38612	0.1047	L	0.38175	1.15	0.35997	D	0.837084	D;D;D	0.64830	0.985;0.978;0.994	D;D;D	0.76071	0.952;0.968;0.987	T	0.32295	-0.9912	9	0.14252	T	0.57	-4.7114	15.4677	0.75416	0.0:0.0:0.0:1.0	.	387;387;387	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	V	387;387;237;387	ENSP00000345216:I387V;ENSP00000386080:I387V;ENSP00000408714:I237V	ENSP00000326547:I387V	I	-	1	0	USP54	74964520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.948000	0.87774	2.057000	0.61298	0.529000	0.55759	ATC		PASS	0.473	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		12	81	12	81	---	---	---	---
CACUL1	143384	broad.mit.edu	37	10	120488808	120488808	+	Splice_Site	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:120488808T>A	ENST00000369151.3	-	3	1079	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	CACUL1_ENST00000544392.1_5'Flank|CACUL1_ENST00000340214.4_Splice_Site_p.Q199L	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	199					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)	p.Q199L(1)									GTTCTTTACCTGCAGCTCCTT	0.363																																						uc001lds.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)CAG>CTG		chromosome 10 open reading frame 46							104.0	103.0	103.0					10																	120488808		1825	4086	5911	SO:0001630	splice_region_variant	143384				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:120488808T>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.597+1A>T	10.37:g.120488808T>A						C10orf46_uc010qst.1_RNA	p.Q199L	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)	3	1080	-		Lung NSC(174;0.142)|all_lung(145;0.175)	199					Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	ENST00000369151.3	37	c.596A>T	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345745	0.61073	.	.	ENSG00000151893	ENST00000369156;ENST00000369151;ENST00000340214	T;T	0.70986	-0.53;-0.53	5.47	5.47	0.80525	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	L	0.45581	1.43	0.58432	D	0.999998	B	0.23128	0.08	B	0.28139	0.086	T	0.60727	-0.7206	10	0.20519	T	0.43	4.3482	15.5552	0.76187	0.0:0.0:0.0:1.0	.	199	Q86Y37	CJ046_HUMAN	L	76;199;199	ENSP00000358147:Q199L;ENSP00000342487:Q199L	ENSP00000342487:Q199L	Q	-	2	0	C10orf46	120478798	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.571000	0.74000	2.089000	0.63090	0.523000	0.50628	CAG		PASS	0.363	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810	Missense_Mutation	17	172	17	172	---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127677168	127677168	+	Silent	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr10:127677168G>C	ENST00000368693.1	+	3	344	c.240G>C	c.(238-240)ctG>ctC	p.L80L	FANK1_ENST00000368689.1_Silent_p.L74L|FANK1_ENST00000449042.2_Silent_p.L74L|FANK1_ENST00000368695.1_Silent_p.L74L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	80	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L80L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CAAGGACGCTGTACAGATTTC	0.512																																						uc001ljh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(238-240)CTG>CTC		fibronectin type III and ankyrin repeat domains							248.0	222.0	231.0					10																	127677168		2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127677168G>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.240G>C	10.37:g.127677168G>C						FANK1_uc010quk.1_Silent_p.L74L|FANK1_uc009yan.2_Silent_p.L80L|FANK1_uc001lji.2_Silent_p.L74L	p.L80L	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			3	344	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	80			Fibronectin type-III.		Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.240G>C	CCDS31309.1																																																																																				PASS	0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		57	277	57	277	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5344690	5344690	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:5344690G>T	ENST00000328813.2	-	1	892	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L280I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGAAAGAGGAAGTAGATG	0.363																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(838-840)CTC>ATC		olfactory receptor, family 51, subfamily B,							119.0	111.0	114.0					11																	5344690		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344690G>T	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.838C>A	11.37:g.5344690G>T	ENSP00000327540:p.Leu280Ile					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.L280I	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	893	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	280			Helical; Name=7; (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.838C>A	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851591	0.51270	.	.	ENSG00000184881	ENST00000328813	T	0.00123	8.7	4.38	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34777	U	0.003688	T	0.00271	0.0008	M	0.75264	2.295	0.20926	N	0.999825	P	0.44195	0.828	P	0.50934	0.654	T	0.27123	-1.0083	10	0.56958	D	0.05	.	7.4193	0.27063	0.0906:0.0:0.7438:0.1656	.	280	Q9Y5P1	O51B2_HUMAN	I	280	ENSP00000327540:L280I	ENSP00000327540:L280I	L	-	1	0	OR51B2	5301266	0.001000	0.12720	0.994000	0.49952	0.987000	0.75469	-0.005000	0.12855	1.092000	0.41356	0.638000	0.83543	CTC		PASS	0.363	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		63	123	63	123	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758097	5758097	+	Silent	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:5758097G>T	ENST00000317121.3	+	1	417	c.351G>T	c.(349-351)gtG>gtT	p.V117V	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ACTTCTTTGTGGGCATGGAGT	0.443																																						uc001mbt.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(349-351)GTG>GTT		olfactory receptor, family 56, subfamily B,							165.0	146.0	152.0					11																	5758097		2201	4297	6498	SO:0001819	synonymous_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758097G>T	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.351G>T	11.37:g.5758097G>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Silent_p.V117V|OR56B1_uc009yev.1_Silent_p.V117V	p.V117V	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	351	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	117			Helical; Name=3; (Potential).		B2RNY6|B3KV42|Q6IF76	Silent	SNP	ENST00000317121.3	37	c.351G>T	CCDS31395.1																																																																																				PASS	0.443	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		29	75	29	75	---	---	---	---
HPX	3263	broad.mit.edu	37	11	6453216	6453216	+	Silent	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:6453216C>A	ENST00000265983.3	-	8	967	c.867G>T	c.(865-867)cgG>cgT	p.R289R		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	289					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)	p.R289R(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCCAGCCATCCCGGCTGGTGT	0.577																																						uc001mdg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(865-867)CGG>CGT		hemopexin precursor							89.0	92.0	91.0					11																	6453216		2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6453216C>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.867G>T	11.37:g.6453216C>A						HPX_uc001mdf.2_Silent_p.R35R|HPX_uc009yfc.2_RNA	p.R289R	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	8	928	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	289			Hemopexin-like 4.		B2R957	Silent	SNP	ENST00000265983.3	37	c.867G>T	CCDS7763.1																																																																																				PASS	0.577	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		25	228	25	228	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32663553	32663553	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:32663553C>G	ENST00000335185.5	-	13	1058	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	339								p.E339Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTCATGCTCATTTTGAAGA	0.249																																						uc001mtv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1015-1017)GAG>CAG		sarcoma antigen NY-SAR-79							76.0	68.0	70.0					11																	32663553		1785	4049	5834	SO:0001583	missense	493860							g.chr11:32663553C>G	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1015G>C	11.37:g.32663553C>G	ENSP00000335325:p.Glu339Gln					CCDC73_uc001mtw.1_Missense_Mutation_p.E329Q	p.E339Q	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			13	1059	-	Breast(20;0.112)		339			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.1015G>C	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735475	0.49045	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.43	3.22	0.36961	.	0.312287	0.30859	N	0.008739	T	0.66436	0.2789	M	0.61703	1.905	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.57502	0.822;0.808	T	0.67699	-0.5603	9	0.41790	T	0.15	.	13.2031	0.59780	0.0:0.8468:0.0:0.1532	.	329;339	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	Q	339	.	ENSP00000335325:E339Q	E	-	1	0	CCDC73	32620129	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	3.379000	0.52440	1.287000	0.44583	0.467000	0.42956	GAG		PASS	0.249	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		25	54	25	54	---	---	---	---
DGKZ	8525	broad.mit.edu	37	11	46388861	46388861	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:46388861G>C	ENST00000454345.1	+	3	874	c.749G>C	c.(748-750)gGc>gCc	p.G250A	DGKZ_ENST00000421244.2_Missense_Mutation_p.G61A|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Missense_Mutation_p.G78A|DGKZ_ENST00000395574.3_Missense_Mutation_p.G27A|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.G61A|DGKZ_ENST00000318201.8_Missense_Mutation_p.G61A|DGKZ_ENST00000532868.2_Missense_Mutation_p.G66A|DGKZ_ENST00000527911.1_Missense_Mutation_p.G61A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	250					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.G61A(1)|p.G250A(1)|p.G78A(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCAAGTCGGGCCTCCAGCAC	0.662																																						uc001ncn.1																			3	Substitution - Missense(3)		lung(3)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(748-750)GGC>GCC		diacylglycerol kinase zeta isoform 4							29.0	35.0	33.0					11																	46388861		2198	4299	6497	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46388861G>C	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.749G>C	11.37:g.46388861G>C	ENSP00000412178:p.Gly250Ala					DGKZ_uc001nch.1_Missense_Mutation_p.G78A|DGKZ_uc010rgq.1_Missense_Mutation_p.G27A|DGKZ_uc001ncj.1_Missense_Mutation_p.G27A|DGKZ_uc010rgr.1_Missense_Mutation_p.G27A|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.G61A|DGKZ_uc001ncm.2_Missense_Mutation_p.G61A|DGKZ_uc009yky.1_Missense_Mutation_p.G61A|DGKZ_uc010rgs.1_Missense_Mutation_p.G61A|DGKZ_uc001nci.1_Missense_Mutation_p.G27A	p.G250A	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	3	874	+			250					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.749G>C	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926081	0.92319	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T	0.30981	2.25;2.51;2.58;3.5;2.32;2.39;2.35;1.51	4.92	4.92	0.64577	.	0.099140	0.64402	D	0.000002	T	0.50888	0.1642	L	0.52126	1.63	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	0.987;0.494;0.987;0.987;0.996;0.964;0.993;0.987;1.0;0.987	P;B;P;P;P;P;D;P;D;P	0.91635	0.844;0.267;0.795;0.844;0.872;0.839;0.926;0.786;0.999;0.844	T	0.41610	-0.9499	10	0.36615	T	0.2	.	18.5726	0.91142	0.0:0.0:1.0:0.0	.	61;27;27;61;250;61;61;27;27;78	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	A	78;27;27;61;61;61;61;250	ENSP00000343065:G78A;ENSP00000378941:G27A;ENSP00000436273:G27A;ENSP00000436291:G61A;ENSP00000395684:G61A;ENSP00000391021:G61A;ENSP00000320340:G61A;ENSP00000412178:G250A	ENSP00000320340:G61A	G	+	2	0	DGKZ	46345437	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.361000	0.97122	2.459000	0.83118	0.555000	0.69702	GGC		PASS	0.662	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		8	63	8	63	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47744580	47744580	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:47744580G>A	ENST00000263773.5	-	15	2765	c.2753C>T	c.(2752-2754)cCa>cTa	p.P918L		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	918	Pro-rich.					nucleus (GO:0005634)		p.P918L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTGGGAGCtggtggtggtgg	0.443																																						uc009ylv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2752-2754)CCA>CTA		formin binding protein 4							12.0	12.0	12.0					11																	47744580		1957	4133	6090	SO:0001583	missense	23360							g.chr11:47744580G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2753C>T	11.37:g.47744580G>A	ENSP00000263773:p.Pro918Leu					FNBP4_uc001ngi.2_Missense_Mutation_p.P232L|FNBP4_uc001ngj.2_Missense_Mutation_p.P825L	p.P918L	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			15	2906	-			918			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2753C>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827742	0.71143	.	.	ENSG00000109920	ENST00000263773	T	0.32515	1.45	4.94	4.94	0.65067	.	0.143112	0.47093	D	0.000250	T	0.29684	0.0741	L	0.47716	1.5	0.80722	D	1	P	0.37781	0.608	B	0.37943	0.261	T	0.03784	-1.1004	10	0.22109	T	0.4	-5.8367	16.7396	0.85455	0.0:0.0:1.0:0.0	.	918	Q8N3X1	FNBP4_HUMAN	L	918	ENSP00000263773:P918L	ENSP00000263773:P918L	P	-	2	0	FNBP4	47701156	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.618000	0.61211	2.470000	0.83445	0.555000	0.69702	CCA		PASS	0.443	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			4	8	4	8	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579674	55579675	+	Missense_Mutation	DNP	CC	CC	AA	rs145975508		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:55579674_55579675CC>AA	ENST00000333973.2	+	1	821_822	c.732_733CC>AA	c.(730-735)caCCtc>caAAtc	p.244_245HL>QI		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244Q(3)|p.H244_L245>QI(1)|p.L245I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GTGCTTCCCACCTCACAGCTAT	0.515																																						uc001nhw.1																			5	Substitution - Missense(4)|Complex - compound substitution(1)		lung(3)|liver(2)	skin(3)|ovary(2)	5						c.(730-732)CAC>CAA|c.(733-735)CTC>ATC		olfactory receptor, family 5, subfamily L,																																				SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579674C>A|g.chr11:55579675C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	Exception_encountered	11.37:g.55579674_55579675delinsAA	ENSP00000335529:p.H244_L245delinsQI						p.H244Q|p.L245I	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	732|733	+		all_epithelial(135;0.208)	244|245			Helical; Name=6; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.732C>A|c.733C>A	CCDS31509.1																																																																																				PASS	0.515	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		18	181	18	181	---	---	---	---
GIF	2694	broad.mit.edu	37	11	59610591	59610592	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:59610591_59610592GG>TC	ENST00000257248.2	-	3	326_327	c.279_280CC>GA	c.(277-282)ggCCtc>ggGAtc	p.L94I	GIF_ENST00000541311.1_Missense_Mutation_p.L69I	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	94					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.L94I(2)|p.G93G(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	ATGATGGTGAGGCCGAGCTGCC	0.53																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|liver(1)	2						c.(280-282)CTC>ATC|c.(277-279)GGC>GGG		gastric intrinsic factor (vitamin B synthesis)																																				SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59610591G>T|g.chr11:59610592G>C	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.279_280delinsTC	11.37:g.59610591_59610592delinsTC	ENSP00000257248:p.Leu94Ile					GIF_uc010rkz.1_Missense_Mutation_p.L94I|GIF_uc010rkz.1_Silent_p.G93G	p.L94I|p.G93G	NM_005142	NP_005133	P27352	IF_HUMAN			3	328|327	-			94|93					B2RAN8|B4DVZ1	Missense_Mutation|Silent	SNP	ENST00000257248.2	37	c.280C>A|c.279C>G	CCDS7977.1																																																																																				PASS	0.530	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		9	101	9	101	---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63967716	63967716	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:63967716A>G	ENST00000305218.4	+	10	1343	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	STIP1_ENST00000538945.1_Missense_Mutation_p.N375S|STIP1_ENST00000358794.5_Missense_Mutation_p.N446S	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	399					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N399S(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTATACAGCAATCGAGCTGCC	0.512																																						uc001nyk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)	3						c.(1195-1197)AAT>AGT		stress-induced-phosphoprotein 1							153.0	160.0	158.0					11																	63967716		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63967716A>G	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1196A>G	11.37:g.63967716A>G	ENSP00000305958:p.Asn399Ser					STIP1_uc010rnb.1_Missense_Mutation_p.N375S	p.N399S	NM_006819	NP_006810	P31948	STIP1_HUMAN			10	1343	+			399			TPR 8.		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.1196A>G	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819935	0.90873	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	T;T;T	0.69040	-0.37;-0.37;-0.37	5.13	5.13	0.70059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91063	0.4887	10	0.87932	D	0	-31.4672	14.298	0.66327	1.0:0.0:0.0:0.0	.	375;399	F5H0T1;P31948	.;STIP1_HUMAN	S	446;399;375	ENSP00000351646:N446S;ENSP00000305958:N399S;ENSP00000445957:N375S	ENSP00000305958:N399S	N	+	2	0	STIP1	63724292	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.838000	0.75359	2.096000	0.63516	0.454000	0.30748	AAT		PASS	0.512	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		142	328	142	328	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66191621	66191621	+	Silent	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:66191621T>C	ENST00000311034.2	+	7	1436	c.1260T>C	c.(1258-1260)ctT>ctC	p.L420L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	420					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.L420L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCAAGGATCTTGTGTGCACTC	0.562																																						uc001ohx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1258-1260)CTT>CTC		neuronal PAS domain protein 4							177.0	173.0	175.0					11																	66191621		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191621T>C	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1260T>C	11.37:g.66191621T>C						NPAS4_uc010rpc.1_Silent_p.L210L	p.L420L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1436	+			420					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1260T>C	CCDS8138.1																																																																																				PASS	0.562	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		50	313	50	313	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70332960	70332960	+	Silent	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:70332960C>A	ENST00000423696.2	-	15	2337	c.2301G>T	c.(2299-2301)ccG>ccT	p.P767P	SHANK2_ENST00000449833.2_Silent_p.P551P|SHANK2_ENST00000338508.4_Silent_p.P1147P|SHANK2_ENST00000409161.1_Silent_p.P550P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	767					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.P551P(1)|p.P1147P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCGTGGCACTCGGCATGGGGG	0.687																																						uc001oqc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3436-3438)CCG>CCT		SH3 and multiple ankyrin repeat domains 2							31.0	36.0	34.0					11																	70332960		2199	4290	6489	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332960C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2301G>T	11.37:g.70332960C>A						SHANK2_uc010rqn.1_Silent_p.P558P|SHANK2_uc001opz.2_Silent_p.P551P|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.P1146P	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3516	-			767					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3438G>T																																																																																					PASS	0.687	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		18	108	18	108	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78380299	78380299	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:78380299C>A	ENST00000278550.7	-	32	7553	c.7091G>T	c.(7090-7092)gGg>gTg	p.G2364V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2364					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G2364V(2)									AAGAGGGGTCCCGATGTTGTC	0.483																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(7090-7092)GGG>GTG		odz, odd Oz/ten-m homolog 4							108.0	110.0	110.0					11																	78380299		2013	4180	6193	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380299C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7091G>T	11.37:g.78380299C>A	ENSP00000278550:p.Gly2364Val					ODZ4_uc001ozk.3_Missense_Mutation_p.G589V|ODZ4_uc009yvb.1_Missense_Mutation_p.G948V	p.G2364V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	7554	-			2364			Extracellular (Potential).|YD 23.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7091G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830663	0.71258	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.96334	-3.98;-0.85	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99544	1.0964	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2364	Q6N022	TEN4_HUMAN	V	2364;828	ENSP00000278550:G2364V;ENSP00000431711:G828V	.	G	-	2	0	ODZ4	78057947	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.651000	0.83577	2.677000	0.91161	0.655000	0.94253	GGG		PASS	0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			64	140	64	140	---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105929622	105929622	+	Missense_Mutation	SNP	C	C	A	rs567015919		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:105929622C>A	ENST00000531482.2	-	1	216	c.203G>T	c.(202-204)tGt>tTt	p.C68F	KBTBD3_ENST00000531837.1_Missense_Mutation_p.C68F|KBTBD3_ENST00000526793.1_Missense_Mutation_p.C68F|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.C68F(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TGCTAACACACAACGATGACA	0.308																																						uc001pja.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(202-204)TGT>TTT		BTB and kelch domain containing 3							95.0	93.0	94.0					11																	105929622		2201	4299	6500	SO:0001583	missense	143879							g.chr11:105929622C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.203G>T	11.37:g.105929622C>A	ENSP00000475836:p.Cys68Phe					KBTBD3_uc001pjb.2_Missense_Mutation_p.C68F|KBTBD3_uc009yxm.2_Intron	p.C68F	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	843	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	64			BTB.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37	c.203G>T		.	.	.	.	.	.	.	.	.	.	C	24.7	4.560772	0.86335	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.65549	-0.16;-0.16	5.7	5.7	0.88788	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	L	0.53561	1.675	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.75020	0.936;0.985	T	0.77327	-0.2629	10	0.66056	D	0.02	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	68;64	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	F	68	ENSP00000436262:C68F;ENSP00000432163:C68F	ENSP00000436262:C68F	C	-	2	0	KBTBD3	105434832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.458000	0.80787	2.692000	0.91855	0.655000	0.94253	TGT		PASS	0.308	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433		5	130	5	130	---	---	---	---
C11orf52	91894	broad.mit.edu	37	11	111789712	111789712	+	Missense_Mutation	SNP	T	T	A	rs140110474		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:111789712T>A	ENST00000278601.5	+	1	112	c.16T>A	c.(16-18)Tgc>Agc	p.C6S	CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	6						extracellular vesicular exosome (GO:0070062)		p.C6S(1)		lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AAACCGGGTCTGCTGCGGAGG	0.557																																						uc001pmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)TGC>AGC		hypothetical protein LOC91894							105.0	97.0	100.0					11																	111789712		2201	4297	6498	SO:0001583	missense	91894							g.chr11:111789712T>A	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.16T>A	11.37:g.111789712T>A	ENSP00000278601:p.Cys6Ser					HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmi.2_Missense_Mutation_p.C6S	p.C6S	NM_080659	NP_542390	Q96A22	CK052_HUMAN		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	2	499	+		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	6						Missense_Mutation	SNP	ENST00000278601.5	37	c.16T>A	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923177	0.52653	.	.	ENSG00000149300	ENST00000529342;ENST00000278601	T;T	0.60548	0.18;0.18	5.39	4.26	0.50523	.	0.000000	0.51477	D	0.000092	T	0.44180	0.1281	L	0.36672	1.1	0.35546	D	0.80349	B	0.30709	0.291	B	0.29598	0.104	T	0.52351	-0.8587	10	0.41790	T	0.15	-10.1446	8.2457	0.31686	0.3191:0.0:0.0:0.6809	.	6	Q96A22	CK052_HUMAN	S	6	ENSP00000436268:C6S;ENSP00000278601:C6S	ENSP00000278601:C6S	C	+	1	0	C11orf52	111294922	0.365000	0.25006	0.796000	0.32109	0.371000	0.29859	0.271000	0.18626	1.044000	0.40200	0.533000	0.62120	TGC		PASS	0.557	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		14	80	14	80	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121037356	121037356	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:121037356G>T	ENST00000392793.1	+	18	5724	c.5453G>T	c.(5452-5454)tGc>tTc	p.C1818F	TECTA_ENST00000264037.2_Missense_Mutation_p.C1818F			O75443	TECTA_HUMAN	tectorin alpha	1818	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.C1818F(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATATCTAAGTGCAAGCTCTTC	0.483																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(5452-5454)TGC>TTC		tectorin alpha precursor							133.0	115.0	121.0					11																	121037356		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121037356G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5453G>T	11.37:g.121037356G>T	ENSP00000376543:p.Cys1818Phe						p.C1818F	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	17	5453	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1818			ZP.			Missense_Mutation	SNP	ENST00000392793.1	37	c.5453G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768705	0.90020	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.82255	-1.59;-1.59	6.05	6.05	0.98169	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92309	0.5856	10	0.87932	D	0	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	1818	O75443	TECTA_HUMAN	F	1818	ENSP00000376543:C1818F;ENSP00000264037:C1818F	ENSP00000264037:C1818F	C	+	2	0	TECTA	120542566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.866000	0.98385	0.650000	0.86243	TGC		PASS	0.483	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		14	210	14	210	---	---	---	---
OR8D1	283159	broad.mit.edu	37	11	124179936	124179936	+	Missense_Mutation	SNP	A	A	T	rs200813687		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:124179936A>T	ENST00000357821.2	-	1	797	c.727T>A	c.(727-729)Tct>Act	p.S243T		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S243T(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGAGATGAGAGCTGCATGTT	0.522																																						uc010sag.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(727-729)TCT>ACT		olfactory receptor, family 8, subfamily D,		A	THR/SER	0,4402		0,0,2201	91.0	79.0	83.0		727	3.1	0.2	11		83	2,8596	2.2+/-6.3	0,2,4297	yes	missense	OR8D1	NM_001002917.1	58	0,2,6498	TT,TA,AA		0.0233,0.0,0.0154	probably-damaging	243/309	124179936	2,12998	2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179936A>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.727T>A	11.37:g.124179936A>T	ENSP00000350474:p.Ser243Thr						p.S243T	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	727	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	243			Helical; Name=6; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.727T>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	a	10.81	1.454161	0.26161	0.0	2.33E-4	ENSG00000196341	ENST00000357821	T	0.39056	1.1	4.29	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36778	U	0.002416	T	0.67382	0.2887	H	0.94886	3.595	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59521	-0.7439	10	0.72032	D	0.01	.	4.7725	0.13162	0.6822:0.1847:0.1331:0.0	.	243	Q8WZ84	OR8D1_HUMAN	T	243	ENSP00000350474:S243T	ENSP00000350474:S243T	S	-	1	0	OR8D1	123685146	0.428000	0.25522	0.195000	0.23364	0.013000	0.08279	1.005000	0.29834	1.813000	0.52934	0.416000	0.27883	TCT		PASS	0.522	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		8	101	8	101	---	---	---	---
ESAM	90952	broad.mit.edu	37	11	124624230	124624230	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:124624230C>A	ENST00000278927.5	-	6	866	c.737G>T	c.(736-738)gGa>gTa	p.G246V	VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank|ESAM_ENST00000442070.2_Missense_Mutation_p.G67V	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	246					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G246V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACTGCAGCTCCAGGCCCTGG	0.637																																						uc001qav.3																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)GGA>GTA		endothelial cell adhesion molecule precursor							35.0	45.0	41.0					11																	124624230		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124624230C>A	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.737G>T	11.37:g.124624230C>A	ENSP00000278927:p.Gly246Val					VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Missense_Mutation_p.G67V|ESAM_uc001qau.3_Missense_Mutation_p.G173V|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.G246V	p.G246V	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	6	910	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	246			Extracellular (Potential).		B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.737G>T	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	9.680	1.149125	0.21288	.	.	ENSG00000149564	ENST00000442070;ENST00000444566;ENST00000278927;ENST00000435477	T;T;T;T	0.71461	1.24;1.24;1.55;-0.57	5.62	1.02	0.19986	.	0.768740	0.13272	N	0.400465	T	0.49830	0.1580	N	0.08118	0	0.21950	N	0.999454	P;P;P	0.47677	0.899;0.716;0.736	P;B;B	0.45681	0.49;0.192;0.221	T	0.40720	-0.9548	10	0.21540	T	0.41	.	8.154	0.31158	0.0:0.5471:0.0:0.4529	.	67;246;119	B4DVN8;Q96AP7;C9JIE7	.;ESAM_HUMAN;.	V	67;67;246;119	ENSP00000410351:G67V;ENSP00000406689:G67V;ENSP00000278927:G246V;ENSP00000415893:G119V	ENSP00000278927:G246V	G	-	2	0	ESAM	124129440	0.000000	0.05858	0.001000	0.08648	0.345000	0.29048	0.065000	0.14466	0.296000	0.22592	0.655000	0.94253	GGA		PASS	0.637	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		15	51	15	51	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124748308	124748308	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr11:124748308G>T	ENST00000397801.1	+	22	3488	c.3296G>T	c.(3295-3297)gGg>gTg	p.G1099V	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.G1077V|ROBO3_ENST00000543966.1_Intron	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1099					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.G1099V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCCTAGAAGGGCCGGAGGAG	0.632																																						uc001qbc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3295-3297)GGG>GTG		roundabout, axon guidance receptor, homolog 3							42.0	48.0	46.0					11																	124748308		1913	4118	6031	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124748308G>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3296G>T	11.37:g.124748308G>T	ENSP00000380903:p.Gly1099Val					ROBO3_uc001qbd.2_Missense_Mutation_p.G24V|ROBO3_uc010sar.1_Missense_Mutation_p.G148V|ROBO3_uc001qbe.2_Missense_Mutation_p.G24V|ROBO3_uc001qbf.1_Intron	p.G1099V	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	22	3488	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1099			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.3296G>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311674	0.40895	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.63417	-0.04;-0.03	5.44	2.46	0.29980	.	0.184455	0.26224	N	0.025602	T	0.56906	0.2017	L	0.54323	1.7	0.80722	D	1	P	0.39216	0.664	B	0.41860	0.368	T	0.57423	-0.7814	10	0.87932	D	0	.	7.7873	0.29099	0.4117:0.0:0.5883:0.0	.	1099	Q96MS0	ROBO3_HUMAN	V	1099;1077	ENSP00000380903:G1099V;ENSP00000441797:G1077V	ENSP00000380903:G1099V	G	+	2	0	ROBO3	124253518	0.945000	0.32115	1.000000	0.80357	0.217000	0.24651	1.470000	0.35354	0.618000	0.30179	0.650000	0.86243	GGG		PASS	0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		12	82	12	82	---	---	---	---
PARP11	57097	broad.mit.edu	37	12	3931253	3931253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:3931253G>A	ENST00000228820.4	-	5	559	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	PARP11_ENST00000397096.2_Nonsense_Mutation_p.Q132*|PARP11_ENST00000476985.1_5'Flank|PARP11_ENST00000427057.2_Nonsense_Mutation_p.Q58*|PARP11_ENST00000447133.3_Nonsense_Mutation_p.Q58*	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	132	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q132*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GCTCTTACCTGATATGGTACT	0.378																																						uc001qmk.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(394-396)CAG>TAG		poly (ADP-ribose) polymerase family, member 11							121.0	111.0	114.0					12																	3931253		2203	4300	6503	SO:0001587	stop_gained	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3931253G>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.415C>T	12.37:g.3931253G>A	ENSP00000228820:p.Gln139*					PARP11_uc001qml.2_Nonsense_Mutation_p.Q139*|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Nonsense_Mutation_p.Q58*|PARP11_uc001qmn.2_Nonsense_Mutation_p.Q58*	p.Q132*	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		4	449	-			132			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Nonsense_Mutation	SNP	ENST00000228820.4	37	c.394C>T	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	G	36	5.781234	0.96929	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7564	0.85501	0.0:0.0:1.0:0.0	.	.	.	.	X	132;58;139;58	.	ENSP00000228820:Q139X	Q	-	1	0	PARP11	3801514	1.000000	0.71417	0.998000	0.56505	0.275000	0.26752	8.711000	0.91396	2.809000	0.96659	0.650000	0.86243	CAG		PASS	0.378	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			34	176	34	176	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7480901	7480901	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:7480901C>T	ENST00000399422.4	+	13	1723	c.1675C>T	c.(1675-1677)Ctc>Ttc	p.L559F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	559					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.L559F(2)		endometrium(6)|kidney(1)|lung(14)	21						TGTTCAAGAACTCCCAAAGAC	0.403																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1675-1677)CTC>TTC		acyl-CoA synthetase medium-chain family member 4							73.0	66.0	68.0					12																	7480901		1843	4098	5941	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7480901C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1675C>T	12.37:g.7480901C>T	ENSP00000382349:p.Leu559Phe						p.L559F	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			13	1675	+			559					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1675C>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819309	0.50633	.	.	ENSG00000215009	ENST00000399422	T	0.70164	-0.46	2.64	2.64	0.31445	.	0.000000	0.33732	U	0.004609	T	0.68165	0.2971	L	0.43152	1.355	0.40065	D	0.975946	D	0.63880	0.993	D	0.63283	0.913	T	0.69957	-0.5004	10	0.87932	D	0	-3.3346	5.4929	0.16787	0.0:0.8461:0.0:0.1539	.	559	P0C7M7	ACSM4_HUMAN	F	559	ENSP00000382349:L559F	ENSP00000382349:L559F	L	+	1	0	ACSM4	7372168	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.530000	0.36007	1.789000	0.52484	0.591000	0.81541	CTC		PASS	0.403	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		5	15	5	15	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52979845	52979845	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:52979845C>G	ENST00000537672.2	-	9	1467	c.1457G>C	c.(1456-1458)gGc>gCc	p.G486A	KRT72_ENST00000398066.3_Missense_Mutation_p.G298A|KRT72_ENST00000354310.4_Missense_Mutation_p.G444A|KRT72_ENST00000293745.2_Missense_Mutation_p.G486A	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	486	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G486A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCCACAGCTGCCTTTGGTCTT	0.567																																						uc001sar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(1456-1458)GGC>GCC		keratin 72 isoform 1							125.0	113.0	117.0					12																	52979845		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52979845C>G	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1457G>C	12.37:g.52979845C>G	ENSP00000441160:p.Gly486Ala					KRT72_uc001saq.2_Missense_Mutation_p.G486A|KRT72_uc010sns.1_Missense_Mutation_p.G444A|KRT72_uc010snt.1_Missense_Mutation_p.G298A	p.G486A	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1543	-			486			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1457G>C	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530208	0.27387	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;T	0.82344	-1.53;-1.53;-1.6;-1.22	4.3	3.38	0.38709	.	0.167851	0.28971	N	0.013543	T	0.69628	0.3132	L	0.34521	1.04	0.33366	D	0.572989	B;B	0.17667	0.005;0.023	B;B	0.12156	0.005;0.007	T	0.63607	-0.6599	10	0.07990	T	0.79	.	9.4673	0.38820	0.2117:0.7883:0.0:0.0	.	444;486	B4DEI8;Q14CN4	.;K2C72_HUMAN	A	486;486;444;298	ENSP00000441160:G486A;ENSP00000293745:G486A;ENSP00000346269:G444A;ENSP00000446151:G298A	ENSP00000293745:G486A	G	-	2	0	KRT72	51266112	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.892000	0.39748	1.139000	0.42245	0.638000	0.83543	GGC		PASS	0.567	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		61	284	61	284	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70964993	70964993	+	Silent	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:70964993A>G	ENST00000261266.5	-	11	2558	c.2529T>C	c.(2527-2529)aaT>aaC	p.N843N	PTPRB_ENST00000550857.1_Silent_p.N753N|PTPRB_ENST00000538708.1_Silent_p.N843N|PTPRB_ENST00000550358.1_Silent_p.N973N|PTPRB_ENST00000334414.6_Silent_p.N1061N|PTPRB_ENST00000551525.1_Silent_p.N1060N|PTPRB_ENST00000451516.2_Silent_p.N753N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	843	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N843N(2)|p.N1061N(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGACATCCCCATTAGCTCCTG	0.438																																						uc001swb.3																			3	Substitution - coding silent(3)		lung(3)	lung(2)|skin(1)	3						c.(2527-2529)AAT>AAC		protein tyrosine phosphatase, receptor type, B							95.0	89.0	91.0					12																	70964993		1988	4174	6162	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70964993A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2529T>C	12.37:g.70964993A>G						PTPRB_uc010sto.1_Silent_p.N843N|PTPRB_uc010stp.1_Silent_p.N753N|PTPRB_uc001swc.3_Silent_p.N1061N|PTPRB_uc001swa.3_Silent_p.N973N|PTPRB_uc001swd.3_Silent_p.N1060N|PTPRB_uc009zrr.1_Silent_p.N940N	p.N843N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		11	2559	-	Renal(347;0.236)		843			Fibronectin type-III 10.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.2529T>C	CCDS44944.1																																																																																				PASS	0.438	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			29	63	29	63	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975677	94975677	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:94975677T>A	ENST00000261226.4	-	2	847	c.716A>T	c.(715-717)tAc>tTc	p.Y239F	TMCC3_ENST00000551457.1_Missense_Mutation_p.Y208F	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	239						integral component of membrane (GO:0016021)		p.Y239F(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCTGCCCCCGTAGGCCCTGGC	0.537																																						uc001tdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(715-717)TAC>TTC		transmembrane and coiled-coil domain family 3							78.0	73.0	75.0					12																	94975677		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975677T>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.716A>T	12.37:g.94975677T>A	ENSP00000261226:p.Tyr239Phe					TMCC3_uc001tdi.2_Missense_Mutation_p.Y208F	p.Y239F	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			2	834	-			239					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.716A>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	T	9.789	1.177374	0.21787	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.41400	1.0;1.0	5.92	5.92	0.95590	.	0.132587	0.56097	D	0.000025	T	0.37489	0.1005	L	0.46157	1.445	0.40314	D	0.978753	P	0.45428	0.858	B	0.44315	0.446	T	0.17868	-1.0355	10	0.11794	T	0.64	-34.5271	11.449	0.50140	0.1344:0.0:0.0:0.8656	.	239	Q9ULS5	TMCC3_HUMAN	F	239;208	ENSP00000261226:Y239F;ENSP00000449888:Y208F	ENSP00000261226:Y239F	Y	-	2	0	TMCC3	93499808	1.000000	0.71417	0.372000	0.25991	0.023000	0.10783	4.944000	0.63561	2.268000	0.75426	0.454000	0.30748	TAC		PASS	0.537	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		47	167	47	167	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99638142	99638142	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:99638142T>G	ENST00000547776.2	-	14	2396	c.2397A>C	c.(2395-2397)aaA>aaC	p.K799N	ANKS1B_ENST00000547010.1_Missense_Mutation_p.K379N|ANKS1B_ENST00000550833.1_5'Flank|ANKS1B_ENST00000329257.7_Missense_Mutation_p.K799N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	799						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.K799N(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATTCATCTCTTTAAGTTCGT	0.313																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2395-2397)AAA>AAC		cajalin 2 isoform a							186.0	170.0	175.0					12																	99638142		1845	4082	5927	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99638142T>G	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2397A>C	12.37:g.99638142T>G	ENSP00000449629:p.Lys799Asn					ANKS1B_uc001tgf.1_Missense_Mutation_p.K379N|ANKS1B_uc001tgk.2_Missense_Mutation_p.K96N	p.K799N	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	14	2814	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	799					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2397A>C	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.509|9.509	1.105128|1.105128	0.20632|0.20632	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702|ENST00000550778	T;T;T|T	0.60672|0.64618	0.99;0.17;0.99|-0.11	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.662303|0.662303	0.14310|0.14310	N|N	0.327744|0.327744	T|T	0.49236|0.49236	0.1545|0.1545	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.16603|.	0.001;0.018;0.004|.	B;B;B|.	0.24394|.	0.003;0.053;0.004|.	T|T	0.41360|0.41360	-0.9513|-0.9513	9|7	.|.	.|.	.|.	-1.6969|-1.6969	10.1979|10.1979	0.43065|0.43065	0.0:0.0781:0.0:0.9219|0.0:0.0781:0.0:0.9219	.|.	13;379;799|.	F8VQW6;Q7Z6G8-6;Q7Z6G8|.	.;.;ANS1B_HUMAN|.	N|T	799;379;799;378|71	ENSP00000449629:K799N;ENSP00000448512:K379N;ENSP00000331381:K799N|ENSP00000448744:K71T	.|.	K|K	-|-	3|2	2|0	ANKS1B|ANKS1B	98162273|98162273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.278000|0.278000	0.26855|0.26855	0.732000|0.732000	0.26072|0.26072	2.132000|2.132000	0.65825|0.65825	0.459000|0.459000	0.35465|0.35465	AAA|AAG		PASS	0.313	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		14	69	14	69	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100930750	100930750	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:100930750G>C	ENST00000551379.1	+	6	914	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	NR1H4_ENST00000548884.1_Missense_Mutation_p.E282Q|NR1H4_ENST00000549996.1_Missense_Mutation_p.E235Q|NR1H4_ENST00000392986.3_Missense_Mutation_p.E286Q|NR1H4_ENST00000188403.7_Missense_Mutation_p.E292Q			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	296	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E296Q(1)|p.E282Q(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CAGTGCAGAAGAAAATTTTCT	0.254																																						uc001tht.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(886-888)GAA>CAA		nuclear receptor subfamily 1, group H, member 4							60.0	72.0	68.0					12																	100930750		2185	4281	6466	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100930750G>C	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.886G>C	12.37:g.100930750G>C	ENSP00000447149:p.Glu296Gln					NR1H4_uc001thp.1_Missense_Mutation_p.E282Q|NR1H4_uc001thq.1_Missense_Mutation_p.E286Q|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.E286Q|NR1H4_uc010svk.1_Missense_Mutation_p.E235Q|NR1H4_uc001ths.1_Missense_Mutation_p.E292Q	p.E296Q	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			6	914	+			296			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.886G>C	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867353	0.51588	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.093361	0.64402	D	0.000001	D	0.95101	0.8413	L	0.49126	1.545	0.58432	D	0.999992	D;P;D;P;B	0.67145	0.996;0.563;0.984;0.947;0.1	P;B;P;P;B	0.50934	0.654;0.124;0.572;0.505;0.014	D	0.93537	0.6874	10	0.24483	T	0.36	.	19.0423	0.93006	0.0:0.0:1.0:0.0	.	235;296;292;286;282	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	Q	282;286;235;296;292	ENSP00000448506:E282Q;ENSP00000376712:E286Q;ENSP00000448978:E235Q;ENSP00000447149:E296Q;ENSP00000188403:E292Q	ENSP00000188403:E292Q	E	+	1	0	NR1H4	99454881	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.374000	0.97172	2.555000	0.86185	0.585000	0.79938	GAA		PASS	0.254	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		26	302	26	302	---	---	---	---
NUAK1	9891	broad.mit.edu	37	12	106480624	106480624	+	Missense_Mutation	SNP	T	T	C	rs557272627		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:106480624T>C	ENST00000261402.2	-	3	1780	c.401A>G	c.(400-402)tAt>tGt	p.Y134C		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.Y134C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTTGCTGGCATATTCCATGAT	0.498													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20989	0.0		0.0	False		,,,				2504	0.0					uc001tlj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(400-402)TAT>TGT		AMPK-related protein kinase 5							163.0	137.0	146.0					12																	106480624		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106480624T>C	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.401A>G	12.37:g.106480624T>C	ENSP00000261402:p.Tyr134Cys						p.Y134C	NM_014840	NP_055655	O60285	NUAK1_HUMAN			3	1781	-			134			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.401A>G	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865328	0.71949	.	.	ENSG00000074590	ENST00000261402;ENST00000359413;ENST00000548902	T;T	0.33216	1.42;1.42	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);	0.000000	0.53938	D	0.000060	T	0.59321	0.2185	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64453	-0.6404	10	0.87932	D	0	.	16.3648	0.83312	0.0:0.0:0.0:1.0	.	134	O60285	NUAK1_HUMAN	C	134;134;3	ENSP00000261402:Y134C;ENSP00000448288:Y3C	ENSP00000261402:Y134C	Y	-	2	0	NUAK1	105004754	1.000000	0.71417	0.991000	0.47740	0.722000	0.41435	7.698000	0.84413	2.263000	0.75096	0.533000	0.62120	TAT		PASS	0.498	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		30	173	30	173	---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000539066.1_Splice_Site_p.L310F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						uc001tlp.2																			4	Substitution - Missense(4)		kidney(3)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1102-1104)CTT>TTT		DNA-directed RNA polymerase III B isoform 1							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	p.L368F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1102C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		PASS	0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	5	17	5	17	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119866545	119866545	+	Nonsense_Mutation	SNP	A	A	T	rs200214070		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr12:119866545A>T	ENST00000327554.2	+	2	613	c.148A>T	c.(148-150)Aaa>Taa	p.K50*	CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Nonsense_Mutation_p.K50*|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000536742.1_Nonsense_Mutation_p.K50*	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	50								p.K50*(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AATAAACCTCAAAAAGGACCT	0.453																																						uc001txe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(148-150)AAA>TAA		coiled-coil domain containing 60							77.0	67.0	71.0					12																	119866545		2203	4299	6502	SO:0001587	stop_gained	160777							g.chr12:119866545A>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.148A>T	12.37:g.119866545A>T	ENSP00000333374:p.Lys50*					uc001txf.2_Intron	p.K50*	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	2	613	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		50						Nonsense_Mutation	SNP	ENST00000327554.2	37	c.148A>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797118	0.90538	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	.	.	.	4.4	4.4	0.53042	.	0.574731	0.16492	N	0.212070	.	.	.	.	.	.	0.39132	D	0.961878	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.2917	10.3044	0.43672	1.0:0.0:0.0:0.0	.	.	.	.	X	50	.	.	K	+	1	0	CCDC60	118350928	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.568000	0.53820	2.201000	0.70794	0.533000	0.62120	AAA		PASS	0.453	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		6	28	6	28	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38357251	38357251	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr13:38357251G>T	ENST00000379705.3	-	2	1077	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	TRPC4_ENST00000379681.3_Missense_Mutation_p.L74I|TRPC4_ENST00000338947.5_Missense_Mutation_p.L74I|TRPC4_ENST00000355779.2_Missense_Mutation_p.L74I|TRPC4_ENST00000379673.2_Missense_Mutation_p.L74I|TRPC4_ENST00000426868.2_Missense_Mutation_p.L74I|TRPC4_ENST00000358477.2_Missense_Mutation_p.L74I|TRPC4_ENST00000447043.1_Missense_Mutation_p.L74I|TRPC4_ENST00000379679.1_Missense_Mutation_p.L74I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	74					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L74I(2)|p.L74F(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		gcaatgaggagagcagttctt	0.363																																						uc001uws.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(3)|skin(2)|breast(1)	6						c.(220-222)CTC>ATC		transient receptor potential cation channel,							87.0	89.0	88.0					13																	38357251		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357251G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.220C>A	13.37:g.38357251G>T	ENSP00000369027:p.Leu74Ile					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L74I|TRPC4_uc010tey.1_Missense_Mutation_p.L74I|TRPC4_uc010abw.2_Missense_Mutation_p.L74I|TRPC4_uc010abx.2_Missense_Mutation_p.L74I|TRPC4_uc010aby.2_Missense_Mutation_p.L74I	p.L74I	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	455	-			74			ANK 2.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.220C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482992	0.84747	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	M	0.86573	2.825	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.986;0.986;0.999;0.999	D	0.85599	0.1251	10	0.20519	T	0.43	-21.3207	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	74;74;74;74;74;74	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	I	74	ENSP00000369027:L74I;ENSP00000369003:L74I;ENSP00000342580:L74I;ENSP00000369001:L74I;ENSP00000410133:L74I;ENSP00000348025:L74I;ENSP00000351264:L74I;ENSP00000368995:L74I;ENSP00000414316:L74I	ENSP00000342580:L74I	L	-	1	0	TRPC4	37255251	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	6.799000	0.75160	2.861000	0.98227	0.650000	0.86243	CTC		PASS	0.363	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		46	159	46	159	---	---	---	---
MTRF1	9617	broad.mit.edu	37	13	41834927	41834927	+	Silent	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr13:41834927C>A	ENST00000379480.4	-	2	217	c.117G>T	c.(115-117)ctG>ctT	p.L39L	MTRF1_ENST00000430347.2_Silent_p.L52L|MTRF1_ENST00000379477.1_Silent_p.L39L|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	39					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)	p.L39L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TAAAAACTTGCAGCCTTGTAT	0.393																																						uc001uxx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(115-117)CTG>CTT		mitochondrial translational release factor 1							119.0	110.0	113.0					13																	41834927		2203	4300	6503	SO:0001819	synonymous_variant	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41834927C>A	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.117G>T	13.37:g.41834927C>A						MTRF1_uc001uxy.2_Silent_p.L39L|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Silent_p.L52L|MTRF1_uc001uyc.1_Silent_p.L39L	p.L39L	NM_004294	NP_004285	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	4	587	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	39					B4DG01|Q5T6Y5|Q8IUQ6	Silent	SNP	ENST00000379480.4	37	c.117G>T	CCDS9378.1																																																																																				PASS	0.393	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		39	199	39	199	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52604681	52604681	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr13:52604681G>C	ENST00000521776.2	+	2	2474	c.1741G>C	c.(1741-1743)Gag>Cag	p.E581Q		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	581					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.E581Q(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AATAATAGAGGAGCTGGAAGA	0.458																																						uc001vgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|breast(1)	5						c.(1741-1743)GAG>CAG		UTP14, U3 small nucleolar ribonucleoprotein,							87.0	89.0	88.0					13																	52604681		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52604681G>C	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1741G>C	13.37:g.52604681G>C	ENSP00000428619:p.Glu581Gln					UTP14C_uc001vgc.2_RNA	p.E581Q	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2276	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	581					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1741G>C	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129488	0.21041	.	.	ENSG00000253797	ENST00000521776	T	0.19394	2.15	2.9	2.9	0.33743	.	0.321633	0.37178	N	0.002207	T	0.19366	0.0465	L	0.56124	1.755	0.20975	N	0.999818	B	0.12630	0.006	B	0.23716	0.048	T	0.12941	-1.0528	9	.	.	.	-14.1947	9.3631	0.38208	0.0:0.0:1.0:0.0	.	581	Q5TAP6	UT14C_HUMAN	Q	581	ENSP00000428619:E581Q	.	E	+	1	0	UTP14C	51502682	0.212000	0.23540	0.668000	0.29813	0.880000	0.50808	0.459000	0.21908	1.631000	0.50456	0.455000	0.32223	GAG		PASS	0.458	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		27	109	27	109	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208193	58208193	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr13:58208193G>A	ENST00000377918.3	+	1	1539	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	505	Cadherin 5. {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.G505S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGCCAGAACGGCACCGTATC	0.597																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1513-1515)GGC>AGC		protocadherin 17 precursor							45.0	44.0	44.0					13																	58208193		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208193G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1513G>A	13.37:g.58208193G>A	ENSP00000367151:p.Gly505Ser					PCDH17_uc010aec.1_Missense_Mutation_p.G505S	p.G505S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2405	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	505			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1513G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240496	0.39598	.	.	ENSG00000118946	ENST00000377918	T	0.49139	0.79	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61501	-0.7050	9	.	.	.	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	505;505	O14917-2;O14917	.;PCD17_HUMAN	S	505	ENSP00000367151:G505S	.	G	+	1	0	PCDH17	57106194	1.000000	0.71417	0.993000	0.49108	0.170000	0.22686	9.869000	0.99810	2.740000	0.93945	0.561000	0.74099	GGC		PASS	0.597	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		13	78	13	78	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75915719	75915719	+	Silent	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr13:75915719G>C	ENST00000377636.3	-	6	1759	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.L471L|TBC1D4_ENST00000431480.2_Silent_p.L471L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	471					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.L471L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGGTGGGTAGAGACCTAAGG	0.453																																						uc001vjl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1411-1413)CTC>CTG		TBC1 domain family, member 4							82.0	77.0	79.0					13																	75915719		1975	4171	6146	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75915719G>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1413C>G	13.37:g.75915719G>C						TBC1D4_uc010aer.2_Silent_p.L471L|TBC1D4_uc010aes.2_Silent_p.L471L	p.L471L	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	6	1760	-		Prostate(6;0.014)|Breast(118;0.0982)	471					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.1413C>G	CCDS41901.1																																																																																				PASS	0.453	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		14	102	14	102	---	---	---	---
SOX1	6656	broad.mit.edu	37	13	112722245	112722245	+	Silent	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr13:112722245C>A	ENST00000330949.1	+	1	333	c.273C>A	c.(271-273)gtC>gtA	p.V91V		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	91					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V91V(1)		lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		AGTGGAAGGTCATGTCCGAGG	0.662																																						uc001vsb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)GTC>GTA		SRY (sex determining region Y)-box 1							43.0	47.0	46.0					13																	112722245		2203	4300	6503	SO:0001819	synonymous_variant	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722245C>A		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.273C>A	13.37:g.112722245C>A							p.V91V	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	333	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	91			HMG box.		Q5W0Q1	Silent	SNP	ENST00000330949.1	37	c.273C>A	CCDS9523.1																																																																																				PASS	0.662	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		7	34	7	34	---	---	---	---
ATP4B	496	broad.mit.edu	37	13	114307223	114307223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr13:114307223C>A	ENST00000335288.4	-	4	561	c.520G>T	c.(520-522)Gaa>Taa	p.E174*		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	174					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)	p.E174*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			GGCTTTCCTTCTTCAAAGCCG	0.522																																						uc001vtz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(520-522)GAA>TAA		hydrogen/potassium-exchanging ATPase 4B	Rabeprazole(DB01129)						67.0	68.0	68.0					13																	114307223		2203	4300	6503	SO:0001587	stop_gained	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114307223C>A		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.520G>T	13.37:g.114307223C>A	ENSP00000334216:p.Glu174*					ATP4B_uc010agy.1_Nonsense_Mutation_p.E174*	p.E174*	NM_000705	NP_000696	P51164	ATP4B_HUMAN	all cancers(43;0.171)		4	562	-	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	174			Extracellular (Potential).		B1B0N8	Nonsense_Mutation	SNP	ENST00000335288.4	37	c.520G>T	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520173	0.85495	.	.	ENSG00000186009	ENST00000335288	.	.	.	4.59	3.67	0.42095	.	0.443560	0.22491	N	0.059367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-3.161	10.9309	0.47217	0.3116:0.6884:0.0:0.0	.	.	.	.	X	174	.	ENSP00000334216:E174X	E	-	1	0	ATP4B	113355224	0.149000	0.22717	0.787000	0.31911	0.932000	0.56968	1.275000	0.33144	2.243000	0.73865	0.491000	0.48974	GAA		PASS	0.522	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		13	71	13	71	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21968795	21968795	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr14:21968795G>A	ENST00000298717.4	-	6	1297	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	382				D -> V (in Ref. 1; AAB71850). {ECO:0000305}.	circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.D382D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AGATACTGACGTCCAGGTAGC	0.493																																						uc001wbc.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1144-1146)GAC>GAT		methyltransferase like 3							142.0	118.0	126.0					14																	21968795		2203	4300	6503	SO:0001819	synonymous_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21968795G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1146C>T	14.37:g.21968795G>A						METTL3_uc001wbb.2_Silent_p.D227D	p.D382D	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	6	1238	-	all_cancers(95;0.000628)		382	D -> V (in Ref. 1; AAB71850).				O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	c.1146C>T	CCDS32044.1																																																																																				PASS	0.493	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		27	160	27	160	---	---	---	---
STRN3	29966	broad.mit.edu	37	14	31483884	31483884	+	Intron	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr14:31483884C>T	ENST00000357479.5	-	1	479				STRN3_ENST00000355683.5_Intron|MIR624_ENST00000385217.1_RNA	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3						negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAGGTAATACCAATACCTTGT	0.323																																						hsa-mir-624|MI0003638																			0					0															56.0	52.0	53.0					14																	31483884		1502	3441	4943	SO:0001627	intron_variant	693209							g.chr14:31483884C>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.282+11225G>A	14.37:g.31483884C>T						STRN3_uc001wqu.2_Intron|STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron										-								A2RTX7|A6NHZ7|Q9NRA5	RNA	SNP	ENST00000357479.5	37	c.65C>T	CCDS41938.1																																																																																				PASS	0.323	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		2	1	2	1	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74189513	74189513	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr14:74189513T>A	ENST00000286523.5	-	10	3394	c.2612A>T	c.(2611-2613)tAc>tTc	p.Y871F	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Y871F	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	871	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y871F(1)									GTAGGTGTAGTAGAACTCCAC	0.522																																						uc001xot.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2611-2613)TAC>TTC		hypothetical protein LOC91748							236.0	212.0	220.0					14																	74189513		2203	4300	6503	SO:0001583	missense	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74189513T>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2612A>T	14.37:g.74189513T>A	ENSP00000286523:p.Tyr871Phe					C14orf43_uc001xos.2_Missense_Mutation_p.Y136F|C14orf43_uc001xou.2_Missense_Mutation_p.Y871F|C14orf43_uc010tud.1_Missense_Mutation_p.Y871F|C14orf43_uc010arw.2_RNA	p.Y871F	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	10	3395	-			871			SANT.		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.2612A>T	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	T	32	5.146047	0.94603	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.48	5.48	0.80851	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.56097	D	0.000026	T	0.75766	0.3894	M	0.92833	3.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	T	0.82464	-0.0444	10	0.72032	D	0.01	-10.7347	15.5714	0.76341	0.0:0.0:0.0:1.0	.	871;871	A0PJD3;Q6PJG2	.;CN043_HUMAN	F	871	ENSP00000377634:Y871F;ENSP00000286523:Y871F;ENSP00000407767:Y871F;ENSP00000402380:Y871F	ENSP00000286523:Y871F	Y	-	2	0	C14orf43	73259266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.668000	0.83897	2.096000	0.63516	0.459000	0.35465	TAC		PASS	0.522	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		160	330	160	330	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81251423	81251423	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr14:81251423T>C	ENST00000555265.1	-	15	2402	c.2027A>G	c.(2026-2028)gAt>gGt	p.D676G	CEP128_ENST00000281129.3_Missense_Mutation_p.D676G			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	676						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.D676G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGTTTCTTCATCCCTGGATTT	0.453																																						uc001xux.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2026-2028)GAT>GGT		hypothetical protein LOC145508							260.0	203.0	222.0					14																	81251423		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81251423T>C	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2027A>G	14.37:g.81251423T>C	ENSP00000451162:p.Asp676Gly					C14orf145_uc010asz.1_RNA	p.D676G	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	14	2198	-			676			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2027A>G	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	8.939	0.965374	0.18583	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.30714	1.52;1.52	6.06	6.06	0.98353	.	0.503327	0.19826	N	0.105195	T	0.23014	0.0556	N	0.22421	0.69	0.80722	D	1	B	0.30973	0.302	B	0.32805	0.153	T	0.07121	-1.0789	10	0.48119	T	0.1	.	10.8806	0.46935	0.0:0.0697:0.0:0.9303	.	676	Q6ZU80	CE128_HUMAN	G	676	ENSP00000281129:D676G;ENSP00000451162:D676G	ENSP00000281129:D676G	D	-	2	0	CEP128	80321176	0.993000	0.37304	0.837000	0.33122	0.247000	0.25773	2.820000	0.48057	2.326000	0.78906	0.472000	0.43445	GAT		PASS	0.453	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		11	356	11	356	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28502333	28502333	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:28502333C>T	ENST00000261609.7	-	17	2499	c.2391G>A	c.(2389-2391)atG>atA	p.M797I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.M797I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTCAAAAGTCATTGAGCAGA	0.547																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(2389-2391)ATG>ATA		hect domain and RLD 2							56.0	46.0	49.0					15																	28502333		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28502333C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2391G>A	15.37:g.28502333C>T	ENSP00000261609:p.Met797Ile					HERC2_uc001zbl.1_Missense_Mutation_p.M492I	p.M797I	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	17	2497	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	797						Missense_Mutation	SNP	ENST00000261609.7	37	c.2391G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046157	0.55110	.	.	ENSG00000128731	ENST00000261609	T	0.37584	1.19	5.56	5.56	0.83823	.	0.235442	0.47093	D	0.000243	T	0.33904	0.0879	L	0.36672	1.1	0.58432	D	0.999995	B	0.15930	0.015	B	0.12156	0.007	T	0.04509	-1.0946	10	0.39692	T	0.17	.	19.5955	0.95536	0.0:1.0:0.0:0.0	.	797	O95714	HERC2_HUMAN	I	797	ENSP00000261609:M797I	ENSP00000261609:M797I	M	-	3	0	HERC2	26175928	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	5.973000	0.70456	2.632000	0.89209	0.644000	0.83932	ATG		PASS	0.547	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		13	121	13	121	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29346239	29346239	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:29346239T>C	ENST00000558402.1	+	5	751	c.152T>C	c.(151-153)cTg>cCg	p.L51P	APBA2_ENST00000558259.1_Missense_Mutation_p.L51P|APBA2_ENST00000411764.1_Missense_Mutation_p.L51P|APBA2_ENST00000558330.1_Missense_Mutation_p.L51P|APBA2_ENST00000561069.1_Missense_Mutation_p.L51P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	51					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.L51P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTGGCTGCCCTGCGGCCAGAG	0.657																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)CTG>CCG		amyloid beta A4 precursor protein-binding,							48.0	58.0	55.0					15																	29346239		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346239T>C	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.152T>C	15.37:g.29346239T>C	ENSP00000453293:p.Leu51Pro					APBA2_uc010azj.2_Missense_Mutation_p.L51P|APBA2_uc010uat.1_Missense_Mutation_p.L51P|APBA2_uc001zcl.2_Missense_Mutation_p.L51P|APBA2_uc010uas.1_Missense_Mutation_p.L51P	p.L51P	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	359	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	51					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.152T>C	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	T	9.680	1.149010	0.21288	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.63417	-0.04	5.25	4.13	0.48395	.	0.456162	0.19510	N	0.112537	T	0.51295	0.1666	L	0.57536	1.79	0.09310	N	0.99999	P;P;P	0.39326	0.668;0.472;0.472	B;B;B	0.34038	0.174;0.161;0.161	T	0.54139	-0.8338	10	0.54805	T	0.06	.	6.055	0.19807	0.0:0.0834:0.1655:0.7511	.	51;51;51	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	P	51	ENSP00000409312:L51P	ENSP00000219865:L51P	L	+	2	0	APBA2	27133531	0.003000	0.15002	0.040000	0.18447	0.711000	0.40976	1.110000	0.31147	1.962000	0.57031	0.528000	0.53228	CTG		PASS	0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		41	106	41	106	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35222550	35222550	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:35222550T>C	ENST00000156471.5	-	12	1148	c.923A>G	c.(922-924)tAt>tGt	p.Y308C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	308					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y308C(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAACCAGTATAGAATTTAAG	0.303																																						uc001ziv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(922-924)TAT>TGT		aquarius							132.0	126.0	127.0					15																	35222550		1815	4073	5888	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35222550T>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.923A>G	15.37:g.35222550T>C	ENSP00000156471:p.Tyr308Cys						p.Y308C	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	12	1104	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	308					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.923A>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561484	0.86335	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.95756	-3.8	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.87900	2.915	0.80722	D	1	D	0.55800	0.973	P	0.50378	0.639	D	0.97258	0.9902	10	0.66056	D	0.02	-17.4369	16.1448	0.81559	0.0:0.0:0.0:1.0	.	308	O60306	AQR_HUMAN	C	308	ENSP00000156471:Y308C	ENSP00000156471:Y308C	Y	-	2	0	AQR	33009842	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.950000	0.87804	2.216000	0.71823	0.482000	0.46254	TAT		PASS	0.303	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		123	337	123	337	---	---	---	---
C15orf41	84529	broad.mit.edu	37	15	37100543	37100543	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:37100543C>T	ENST00000566621.1	+	11	985	c.735C>T	c.(733-735)gtC>gtT	p.V245V	C15orf41_ENST00000338183.4_Silent_p.V147V|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562489.1_Silent_p.V69V|C15orf41_ENST00000567389.1_Silent_p.V147V|C15orf41_ENST00000562877.1_Silent_p.V147V|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000437989.2_Silent_p.V245V|C15orf41_ENST00000569302.1_Silent_p.V251V|C15orf41_ENST00000563167.1_Missense_Mutation_p.H8Y	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	245								p.V245V(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CAGGCTTAGTCATCTATTGGT	0.458																																						uc001zje.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(733-735)GTC>GTT		hypothetical protein LOC84529 isoform 1							164.0	153.0	156.0					15																	37100543		1869	4101	5970	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:37100543C>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.735C>T	15.37:g.37100543C>T						C15orf41_uc001zjd.2_Silent_p.V245V|C15orf41_uc010bbb.1_Silent_p.V147V|C15orf41_uc001zjf.2_Silent_p.V147V|C15orf41_uc010uci.1_Silent_p.V147V|CSNK1A1P_uc001zjg.3_Intron	p.V245V	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	11	985	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	245					B2RD87	Silent	SNP	ENST00000566621.1	37	c.735C>T	CCDS45215.1																																																																																				PASS	0.458	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		14	187	14	187	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43038444	43038444	+	Missense_Mutation	SNP	T	T	C	rs199727474		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:43038444T>C	ENST00000267890.6	-	15	3392	c.3284A>G	c.(3283-3285)tAt>tGt	p.Y1095C		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1095					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y1095C(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGGACTTTATATCTGCGTAG	0.393																																						uc001zqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(3283-3285)TAT>TGT		tau tubulin kinase 2							51.0	46.0	48.0					15																	43038444		1806	4062	5868	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038444T>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3284A>G	15.37:g.43038444T>C	ENSP00000267890:p.Tyr1095Cys					TTBK2_uc010bcy.2_Missense_Mutation_p.Y1026C|uc001zqn.2_5'Flank	p.Y1095C	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3723	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1095					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.3284A>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376413	0.61735	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.51817	0.69	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.97	T	0.68678	-0.5345	10	0.87932	D	0	.	15.1113	0.72359	0.0:0.0:0.0:1.0	.	1026;1095	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	C	1095;1025;1500	ENSP00000267890:Y1095C	ENSP00000263802:Y1500C	Y	-	2	0	TTBK2	40825736	1.000000	0.71417	0.972000	0.41901	0.979000	0.70002	5.330000	0.65899	2.156000	0.67533	0.533000	0.62120	TAT		PASS	0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		13	69	13	69	---	---	---	---
SERF2	10169	broad.mit.edu	37	15	44085281	44085281	+	Splice_Site	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:44085281G>T	ENST00000381359.1	+	4	1045	c.116G>T	c.(115-117)aGg>aTg	p.R39M	SERF2_ENST00000249786.4_Splice_Site_p.R39M|SERF2_ENST00000409646.1_Splice_Site_p.R39I|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Splice_Site_p.R25M|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Splice_Site_p.R39M|SERF2_ENST00000594896.1_Splice_Site_p.A12S|SERF2_ENST00000409614.1_Splice_Site_p.R25M|SERF2_ENST00000339624.5_Splice_Site_p.S39I|SERF2_ENST00000402131.1_Splice_Site_p.R25M|SERF2_ENST00000403425.1_Splice_Site_p.R25M	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	39						cytosol (GO:0005829)|nucleus (GO:0005634)		p.R39M(2)		lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CGCAAGCAGAGGTAGCCCCAG	0.577																																						uc001ztb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(34-36)GCT>TCT		chromosome 15 open reading frame 63							24.0	26.0	25.0					15																	44085281		2198	4298	6496	SO:0001630	splice_region_variant	25764							g.chr15:44085281G>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.116+1G>T	15.37:g.44085281G>T						ELL3_uc001zsx.1_Intron|SERF2_uc010bdq.2_Missense_Mutation_p.R39M|SERF2_uc010uee.1_Missense_Mutation_p.G12W|SERF2_uc001zsz.3_Missense_Mutation_p.R39M	p.A12S	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN			2	517	+			Error:Variant_position_missing_in_Q9NX55_after_alignment					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	ENST00000381359.1	37	c.34G>T	CCDS32218.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.57|13.57|13.57	2.277299|2.277299|2.277299	0.40294|0.40294|0.40294	.|.|.	.|.|.	ENSG00000140264|ENSG00000140264|ENSG00000140264	ENST00000409646|ENST00000381359;ENST00000249786;ENST00000409960;ENST00000409291;ENST00000402131;ENST00000403425;ENST00000409614|ENST00000339624;ENST00000430901	T|T;T;T;T;T;T|T	0.56275|0.66638|0.50277	0.47|0.36;0.36;0.67;-0.22;-0.22;-0.22|0.75	5.84|5.84|5.84	5.84|5.84|5.84	0.93424|0.93424|0.93424	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.60625|0.60625|0.60625	0.2283|0.2283|0.2283	L|L|L	0.58354|0.58354|0.58354	1.805|1.805|1.805	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|D;P|.	.|0.55605|.	.|0.972;0.88|.	.|P;P|.	.|0.58013|.	.|0.831;0.507|.	T|T|T	0.61312|0.61312|0.61312	-0.7088|-0.7088|-0.7088	6|9|7	.|0.87932|0.72032	.|D|D	.|0|0.01	.|.|.	15.6435|15.6435|15.6435	0.77029|0.77029|0.77029	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|39;39|.	.|B9A026;P84101|.	.|.;SERF2_HUMAN|.	I|M|I	39|39;39;39;25;25;25;25|39;25	ENSP00000386316:R39I|ENSP00000370764:R39M;ENSP00000249786:R39M;ENSP00000387187:R39M;ENSP00000386044:R25M;ENSP00000384300:R25M;ENSP00000386783:R25M|ENSP00000339647:S39I	.|ENSP00000249786:R39M|ENSP00000339647:S39I	R|R|S	+|+|+	2|2|2	0|0|0	SERF2|SERF2|SERF2	41872573|41872573|41872573	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	7.000000|7.000000|7.000000	0.76290|0.76290|0.76290	2.769000|2.769000|2.769000	0.95229|0.95229|0.95229	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	AGA|AGG|AGT		PASS	0.577	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770	Missense_Mutation	6	37	6	37	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53080992	53080992	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:53080992C>A	ENST00000305901.5	-	1	1217	c.1090G>T	c.(1090-1092)Gcg>Tcg	p.A364S	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	364					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A364S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AAGCGGAGCGCGGACATGCGC	0.637																																						uc002aci.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)GCG>TCG		one cut homeobox 1							31.0	35.0	34.0					15																	53080992		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53080992C>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1090G>T	15.37:g.53080992C>A	ENSP00000302630:p.Ala364Ser						p.A364S	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1218	-			364			CUT.		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.1090G>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148520	0.78001	.	.	ENSG00000169856	ENST00000305901	T	0.51817	0.69	4.5	4.5	0.54988	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.238784	0.42172	D	0.000748	T	0.62097	0.2400	L	0.40543	1.245	0.80722	D	1	B	0.27229	0.172	P	0.53988	0.739	T	0.66528	-0.5901	10	0.66056	D	0.02	-9.916	15.9762	0.80066	0.0:1.0:0.0:0.0	.	364	Q9UBC0	HNF6_HUMAN	S	364	ENSP00000302630:A364S	ENSP00000302630:A364S	A	-	1	0	ONECUT1	50868284	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.578000	0.82498	2.332000	0.79248	0.563000	0.77884	GCG		PASS	0.637	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			24	72	24	72	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	77046217	77046217	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:77046217G>A	ENST00000563290.1	-	15	1893	c.1798C>T	c.(1798-1800)Cat>Tat	p.H600Y	SCAPER_ENST00000324767.7_Missense_Mutation_p.H600Y|SCAPER_ENST00000538941.2_Missense_Mutation_p.H354Y			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	600	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.H600Y(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AACTCAGCATGAAGTAATTTT	0.378																																						uc002bby.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1798-1800)CAT>TAT		S-phase cyclin A-associated protein in the ER							231.0	219.0	223.0					15																	77046217		1873	4092	5965	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77046217G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1798C>T	15.37:g.77046217G>A	ENSP00000454973:p.His600Tyr					SCAPER_uc002bbx.2_Missense_Mutation_p.H354Y|SCAPER_uc002bbz.1_Missense_Mutation_p.H471Y|SCAPER_uc002bca.1_Missense_Mutation_p.H465Y|SCAPER_uc002bcb.1_Missense_Mutation_p.H606Y	p.H600Y	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			14	1857	-			599			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.1798C>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520981	0.85495	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.24151	1.88;1.87	5.77	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	N	0.14661	0.345	0.49687	D	0.999818	D;D	0.56968	0.978;0.978	P;P	0.61477	0.889;0.769	T	0.34354	-0.9832	10	0.87932	D	0	.	16.7438	0.85466	0.0:0.1294:0.8706:0.0	.	621;354	Q9BY12-2;F5H7X8	.;.	Y	600;354;622	ENSP00000326924:H600Y;ENSP00000442190:H354Y	ENSP00000303560:H622Y	H	-	1	0	SCAPER	74833272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.585000	0.98223	1.411000	0.46957	0.655000	0.94253	CAT		PASS	0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		69	385	69	385	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79755579	79755579	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:79755579G>A	ENST00000305428.3	+	3	2544	c.2469G>A	c.(2467-2469)gtG>gtA	p.V823V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	823						integral component of membrane (GO:0016021)		p.V823V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGGCCGAGGTGAAGCGGGGCC	0.612																																						uc002bew.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2467-2469)GTG>GTA		hypothetical protein LOC23251							116.0	103.0	107.0					15																	79755579		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79755579G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2469G>A	15.37:g.79755579G>A						KIAA1024_uc010unk.1_Silent_p.V823V	p.V823V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			3	2544	+			823					A7MD43	Silent	SNP	ENST00000305428.3	37	c.2469G>A	CCDS32306.1																																																																																				PASS	0.612	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		64	159	64	159	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84611786	84611786	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr15:84611786T>A	ENST00000286744.5	+	19	2666	c.2442T>A	c.(2440-2442)tgT>tgA	p.C814*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.C814*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	814	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C814*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACAAGTCCTGTGCCAGGACAG	0.512																																						uc002bjz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2440-2442)TGT>TGA		ADAMTS-like 3 precursor							73.0	64.0	67.0					15																	84611786		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611786T>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2442T>A	15.37:g.84611786T>A	ENSP00000286744:p.Cys814*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.C814*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.C814*	p.C814*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2666	+			814			TSP type-1 6.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.2442T>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	T	41	9.142063	0.99078	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.08	0.156	0.14910	.	0.000000	0.41712	D	0.000821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8529	0.41068	0.0:0.3531:0.0:0.6469	.	.	.	.	X	814	.	ENSP00000286744:C814X	C	+	3	2	ADAMTSL3	82402790	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	0.653000	0.24902	-0.234000	0.09782	0.533000	0.62120	TGT		PASS	0.512	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		13	185	13	185	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1545504	1545504	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:1545504G>T	ENST00000262319.6	+	3	772	c.493G>T	c.(493-495)Gat>Tat	p.D165Y		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	165					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.D165Y(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGCCCTGCCCGATCACCTGGG	0.682																																						uc002cly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GAT>TAT		TEL2, telomere maintenance 2, homolog							32.0	27.0	28.0					16																	1545504		2197	4296	6493	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1545504G>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.493G>T	16.37:g.1545504G>T	ENSP00000262319:p.Asp165Tyr					TELO2_uc010uvg.1_Missense_Mutation_p.D165Y	p.D165Y	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			3	784	+		Hepatocellular(780;0.219)	165					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.493G>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428614	0.83667	.	.	ENSG00000100726	ENST00000262319	D	0.84660	-1.88	5.33	5.33	0.75918	.	0.112886	0.56097	D	0.000023	D	0.91855	0.7422	M	0.71581	2.175	0.51767	D	0.999936	D	0.89917	1.0	D	0.77004	0.989	D	0.92528	0.6031	10	0.72032	D	0.01	-24.9	17.7837	0.88531	0.0:0.0:1.0:0.0	.	165	Q9Y4R8	TELO2_HUMAN	Y	165	ENSP00000262319:D165Y	ENSP00000262319:D165Y	D	+	1	0	TELO2	1485505	1.000000	0.71417	0.061000	0.19648	0.850000	0.48378	6.601000	0.74136	2.489000	0.83994	0.655000	0.94253	GAT		PASS	0.682	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		4	43	4	43	---	---	---	---
MEIOB	254528	broad.mit.edu	37	16	1884318	1884318	+	Missense_Mutation	SNP	G	G	A	rs140689936		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:1884318G>A	ENST00000397344.3	-	13	1462	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	MEIOB_ENST00000325962.3_Missense_Mutation_p.S452L|MEIOB_ENST00000470044.1_Missense_Mutation_p.S245L|MEIOB_ENST00000412554.2_Missense_Mutation_p.S452L|MEIOB_ENST00000452149.2_Missense_Mutation_p.S423L|FAHD1_ENST00000382668.4_Intron|FAHD1_ENST00000382666.4_Intron	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	423					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)	p.S179L(1)|p.S452L(1)									AAGCTTGCACGAGAGTACACT	0.383																																						uc002cne.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1267-1269)TCG>TTG		hypothetical protein LOC254528 isoform 2							97.0	93.0	94.0					16																	1884318		2199	4300	6499	SO:0001583	missense	254528				meiosis	cytoplasm		g.chr16:1884318G>A	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1268C>T	16.37:g.1884318G>A	ENSP00000380504:p.Ser423Leu					FAHD1_uc002cnd.2_Intron|FAHD1_uc010brz.2_Intron|C16orf73_uc010uvq.1_Missense_Mutation_p.S452L|C16orf73_uc010uvr.1_Missense_Mutation_p.S245L	p.S423L	NM_152764	NP_689977	Q8N635	CP073_HUMAN			13	1386	-			423					B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.1268C>T	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	G	14.07	2.427103	0.43122	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.81	4.85	0.62838	.	0.142346	0.48286	D	0.000193	T	0.31670	0.0804	M	0.70595	2.14	0.23602	N	0.997318	D;D	0.89917	0.997;1.0	P;D	0.80764	0.866;0.994	T	0.09997	-1.0649	10	0.72032	D	0.01	.	13.8063	0.63233	0.0:0.0:0.847:0.153	.	452;423	C9J0S1;Q8N635	.;CP073_HUMAN	L	452;423;452;423	ENSP00000390778:S452L;ENSP00000391033:S423L;ENSP00000314484:S452L;ENSP00000380504:S423L	ENSP00000314484:S452L	S	-	2	0	C16orf73	1824319	0.997000	0.39634	0.022000	0.16811	0.012000	0.07955	5.878000	0.69682	1.457000	0.47850	0.650000	0.86243	TCG		PASS	0.383	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		19	134	19	134	---	---	---	---
USP7	7874	broad.mit.edu	37	16	8992280	8992280	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:8992280G>A	ENST00000344836.4	-	25	2853	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	USP7_ENST00000381886.4_Silent_p.I869I|USP7_ENST00000535863.1_Silent_p.I786I	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	885					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.I885I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CAAAGTCTGTGATTTTCATCT	0.313																																						uc002czl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2653-2655)ATC>ATT		ubiquitin specific peptidase 7							91.0	106.0	101.0					16																	8992280		2196	4300	6496	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8992280G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2655C>T	16.37:g.8992280G>A						USP7_uc010uyk.1_Silent_p.I786I|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.I786I|USP7_uc002czk.2_Silent_p.I869I	p.I885I	NM_003470	NP_003461	Q93009	UBP7_HUMAN			25	2854	-			885					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2655C>T	CCDS32385.1																																																																																				PASS	0.313	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			47	232	47	232	---	---	---	---
PDXDC1	23042	broad.mit.edu	37	16	15100389	15100389	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:15100389A>G	ENST00000396410.4	+	6	625	c.528A>G	c.(526-528)atA>atG	p.I176M	PDXDC1_ENST00000455313.2_Missense_Mutation_p.I176M|PDXDC1_ENST00000563679.1_Missense_Mutation_p.I194M|PDXDC1_ENST00000325823.7_Missense_Mutation_p.I161M|PDXDC1_ENST00000535621.2_Missense_Mutation_p.I176M|PDXDC1_ENST00000569715.1_Missense_Mutation_p.I149M|PDXDC1_ENST00000450288.2_Missense_Mutation_p.I148M|PDXDC1_ENST00000447912.2_Missense_Mutation_p.I85M	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	176					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.I176M(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCTGTCATATATCTTAGTG	0.393																																						uc002dda.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(526-528)ATA>ATG		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						108.0	109.0	109.0					16																	15100389		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15100389A>G	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.528A>G	16.37:g.15100389A>G	ENSP00000379691:p.Ile176Met					PDXDC1_uc010uzl.1_Missense_Mutation_p.I161M|PDXDC1_uc010uzm.1_Missense_Mutation_p.I85M|PDXDC1_uc010bvc.1_Missense_Mutation_p.I117M|PDXDC1_uc002dcz.2_Missense_Mutation_p.I176M|PDXDC1_uc002ddb.3_Missense_Mutation_p.I149M|PDXDC1_uc010uzn.1_Missense_Mutation_p.I148M|PDXDC1_uc002ddc.2_Missense_Mutation_p.I176M	p.I176M	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			6	752	+			176					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.528A>G	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920533	0.73213	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.71	-1.13	0.09775	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.180500	0.56097	N	0.000023	T	0.60379	0.2264	M	0.77313	2.365	0.47659	D	0.99948	P;P;P;P;P;P;P	0.48350	0.909;0.87;0.848;0.909;0.909;0.909;0.821	P;P;P;P;P;P;P	0.59288	0.855;0.736;0.701;0.855;0.855;0.855;0.751	T	0.67436	-0.5671	10	0.66056	D	0.02	-21.8893	17.7666	0.88480	0.298:0.702:0.0:0.0	.	148;85;161;176;148;176;176	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;.;PDXD1_HUMAN;.	M	161;85;176;176;148;176	ENSP00000322807:I161M;ENSP00000400310:I85M;ENSP00000437835:I176M;ENSP00000379691:I176M;ENSP00000391147:I148M;ENSP00000406703:I176M	ENSP00000322807:I161M	I	+	3	3	PDXDC1	15007890	1.000000	0.71417	0.492000	0.27490	0.992000	0.81027	1.247000	0.32815	-0.509000	0.06532	0.528000	0.53228	ATA		PASS	0.393	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		29	263	29	263	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20551990	20551990	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:20551990T>A	ENST00000329697.6	-	13	1783	c.1615A>T	c.(1615-1617)Aag>Tag	p.K539*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.K539*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.K539*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.K460*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	539					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.K539*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTGGGTACTTGTATGGGGCT	0.478																																						uc002dhj.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1615-1617)AAG>TAG		acyl-CoA synthetase medium-chain family member							118.0	110.0	113.0					16																	20551990		2202	4297	6499	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20551990T>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1615A>T	16.37:g.20551990T>A	ENSP00000327453:p.Lys539*					ACSM2B_uc002dhk.3_Nonsense_Mutation_p.K539*	p.K539*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			14	1825	-			539					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1615A>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353593	0.82243	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.44	2.32	0.28847	.	0.000000	0.46442	D	0.000300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7232	8.4918	0.33104	0.0:0.097:0.0:0.903	.	.	.	.	X	539	.	ENSP00000327453:K539X	K	-	1	0	ACSM2B	20459491	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	4.645000	0.61404	0.523000	0.28482	0.491000	0.48974	AAG		PASS	0.478	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		39	193	39	193	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22328500	22328500	+	Missense_Mutation	SNP	G	G	C	rs371071744		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:22328500G>C	ENST00000299853.5	+	12	1005	c.838G>C	c.(838-840)Gat>Cat	p.D280H	POLR3E_ENST00000418581.2_Missense_Mutation_p.D244H|POLR3E_ENST00000359210.4_Missense_Mutation_p.D280H|POLR3E_ENST00000564209.1_Missense_Mutation_p.D280H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	280					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.D280H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCCCCTGGCCGATCAGATCAA	0.642																																						uc002dkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(838-840)GAT>CAT		RNA polymerase III polypeptide E							65.0	71.0	69.0					16																	22328500		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22328500G>C	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.838G>C	16.37:g.22328500G>C	ENSP00000299853:p.Asp280His					POLR3E_uc002dkj.1_Missense_Mutation_p.D280H|POLR3E_uc002dkm.2_Missense_Mutation_p.D244H|POLR3E_uc010vbr.1_Missense_Mutation_p.D280H|POLR3E_uc002dkl.2_Missense_Mutation_p.D280H|POLR3E_uc010vbs.1_Missense_Mutation_p.D244H|POLR3E_uc010vbt.1_Missense_Mutation_p.D224H	p.D280H	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	12	994	+			280					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.838G>C	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857209	0.91433	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.51071	0.72;0.72;0.72	4.98	4.98	0.66077	.	0.055638	0.64402	D	0.000001	T	0.71668	0.3367	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.996;0.998;0.998	T	0.76836	-0.2812	10	0.87932	D	0	-16.652	18.2921	0.90134	0.0:0.0:1.0:0.0	.	224;244;280;280;280;280	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	H	280;280;244	ENSP00000299853:D280H;ENSP00000352140:D280H;ENSP00000399254:D244H	ENSP00000299853:D280H	D	+	1	0	POLR3E	22236001	1.000000	0.71417	0.952000	0.39060	0.981000	0.71138	9.476000	0.97823	2.300000	0.77407	0.655000	0.94253	GAT		PASS	0.642	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		28	162	28	162	---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28855622	28855622	+	5'Flank	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:28855622C>G	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Missense_Mutation_p.R284P|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R284P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TAAAATGCCACGCTCTAGTGT	0.562																																						uc002drh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)CGT>CCT		Tu translation elongation factor, mitochondrial							170.0	152.0	158.0					16																	28855622		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28855622C>G	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855622C>G	Exception_encountered					uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	p.R284P	NM_003321	NP_003312	P49411	EFTU_HUMAN			7	990	-			281					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.851G>C	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224462	0.79576	.	.	ENSG00000178952	ENST00000313511	T	0.65364	-0.15	5.93	4.98	0.66077	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.051119	0.85682	D	0.000000	D	0.85392	0.5686	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	D	0.89731	0.3926	10	0.87932	D	0	.	12.0867	0.53702	0.0:0.92:0.0:0.08	.	281	P49411	EFTU_HUMAN	P	284	ENSP00000322439:R284P	ENSP00000322439:R284P	R	-	2	0	TUFM	28763123	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.002000	0.49496	1.510000	0.48803	0.561000	0.74099	CGT		PASS	0.562	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		35	252	35	252	---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31471257	31471257	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:31471257G>T	ENST00000563544.1	+	2	958	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000457010.2_Missense_Mutation_p.D138Y|ARMC5_ENST00000408912.3_Missense_Mutation_p.D233Y|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Missense_Mutation_p.D170Y|ARMC5_ENST00000268314.4_Missense_Mutation_p.D138Y			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	138								p.D233Y(1)|p.D138Y(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CATCCTAGCCGATTGCTGTAC	0.652																																						uc002ecc.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(412-414)GAT>TAT		armadillo repeat containing 5 isoform a							47.0	49.0	48.0					16																	31471257		2002	4169	6171	SO:0001583	missense	79798						binding	g.chr16:31471257G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.412G>T	16.37:g.31471257G>T	ENSP00000456877:p.Asp138Tyr					ARMC5_uc010vfn.1_Missense_Mutation_p.D233Y|ARMC5_uc010vfo.1_Missense_Mutation_p.D170Y|ARMC5_uc002eca.3_Missense_Mutation_p.D138Y|ARMC5_uc010vfp.1_Missense_Mutation_p.D138Y|ARMC5_uc002ecb.2_Missense_Mutation_p.D138Y	p.D138Y	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			1	941	+			138					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.412G>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140546	0.56936	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.67	2.44	0.29823	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.80722	D	1	P;P;P;P;P	0.51240	0.785;0.785;0.903;0.785;0.943	B;B;B;B;B	0.42851	0.288;0.288;0.288;0.288;0.4	T	0.04621	-1.0938	9	0.59425	D	0.04	-28.3828	6.9392	0.24483	0.7982:0.0:0.2018:0.0	.	170;170;233;138;138	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	Y	233;170;138;138	ENSP00000386125:D233Y;ENSP00000443995:D170Y;ENSP00000268314:D138Y;ENSP00000399561:D138Y	ENSP00000268314:D138Y	D	+	1	0	ARMC5	31378758	1.000000	0.71417	0.999000	0.59377	0.642000	0.38348	1.611000	0.36879	0.324000	0.23333	-0.367000	0.07326	GAT		PASS	0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		20	137	20	137	---	---	---	---
ACD	65057	broad.mit.edu	37	16	67694322	67694322	+	Silent	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:67694322T>A	ENST00000393919.4	-	1	324	c.60A>T	c.(58-60)gcA>gcT	p.A20A	PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_Silent_p.A20A			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	20					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.A20A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACCCCGCTGGTGCACGGGATG	0.687																																						uc002etq.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(58-60)GCA>GCT		adrenocortical dysplasia homolog isoform 1							18.0	20.0	19.0					16																	67694322		2196	4300	6496	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694322T>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.60A>T	16.37:g.67694322T>A						ACD_uc002etp.3_Silent_p.A20A|ACD_uc002etr.3_Silent_p.A20A|ACD_uc010vjt.1_Silent_p.A10A|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.A20A	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	397	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	20					Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.60A>T	CCDS42181.1																																																																																				PASS	0.687	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		6	29	6	29	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75276604	75276604	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:75276604G>T	ENST00000162330.5	-	2	523	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	BCAR1_ENST00000418647.3_Missense_Mutation_p.P179T|BCAR1_ENST00000393422.2_Missense_Mutation_p.P151T|BCAR1_ENST00000420641.3_Missense_Mutation_p.P151T|BCAR1_ENST00000393420.6_Missense_Mutation_p.P133T|BCAR1_ENST00000538440.2_Missense_Mutation_p.P133T|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000542031.2_Missense_Mutation_p.P131T|BCAR1_ENST00000546196.1_Missense_Mutation_p.P104T	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	133	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P133T(2)|p.P179T(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGAGGGCTGGGACCCGGGACT	0.637																																						uc002fdv.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(397-399)CCC>ACC		breast cancer anti-estrogen resistance 1							95.0	98.0	97.0					16																	75276604		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276604G>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.397C>A	16.37:g.75276604G>T	ENSP00000162330:p.Pro133Thr					BCAR1_uc010cgu.2_Missense_Mutation_p.P104T|BCAR1_uc010vna.1_Missense_Mutation_p.P131T|BCAR1_uc010vnb.1_Missense_Mutation_p.P179T|BCAR1_uc002fdw.2_Missense_Mutation_p.P133T|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Missense_Mutation_p.P151T|BCAR1_uc002fdx.2_Missense_Mutation_p.P151T	p.P133T	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	520	-			133			Substrate for kinases (By similarity).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.397C>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554778	0.27739	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	4.49	1.49	0.22878	.	0.000000	0.38381	N	0.001715	T	0.38188	0.1031	L	0.29908	0.895	0.32100	N	0.590755	B;B;B;B;B;B;B	0.30686	0.001;0.22;0.29;0.089;0.002;0.29;0.025	B;B;B;B;B;B;B	0.34536	0.004;0.036;0.12;0.047;0.007;0.185;0.033	T	0.47923	-0.9079	10	0.62326	D	0.03	-15.0081	7.5147	0.27593	0.293:0.0:0.707:0.0	.	151;179;131;133;151;133;133	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	T	133;151;151;133;179;133;131;104	ENSP00000162330:P133T;ENSP00000377074:P151T;ENSP00000392708:P151T;ENSP00000443841:P133T;ENSP00000391669:P179T;ENSP00000377072:P133T;ENSP00000440415:P131T;ENSP00000442161:P104T	ENSP00000162330:P133T	P	-	1	0	BCAR1	73834105	0.989000	0.36119	0.998000	0.56505	0.890000	0.51754	1.243000	0.32767	0.642000	0.30620	0.650000	0.86243	CCC		PASS	0.637	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		14	324	14	324	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84094378	84094378	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:84094378C>T	ENST00000343411.3	-	20	3108	c.2613G>A	c.(2611-2613)tcG>tcA	p.S871S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	871					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S871S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCACCCCATACGATGTGTACT	0.542																																						uc002fhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2611-2613)TCG>TCA		membrane-bound transcription factor site-1							67.0	58.0	61.0					16																	84094378		2199	4299	6498	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84094378C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2613G>A	16.37:g.84094378C>T						MBTPS1_uc002fhh.2_Silent_p.S375S	p.S871S	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			20	3115	-			871			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.2613G>A	CCDS10941.1																																																																																				PASS	0.542	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		5	23	5	23	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87445175	87445175	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:87445175G>C	ENST00000268616.4	-	12	2958	c.2741C>G	c.(2740-2742)aCt>aGt	p.T914S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	914							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.T914S(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCGGTGACCAGTGGCCCCGCA	0.627																																						uc002fjz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(2740-2742)ACT>AGT		zinc finger, CCHC domain containing 14							87.0	87.0	87.0					16																	87445175		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445175G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2741C>G	16.37:g.87445175G>C	ENSP00000268616:p.Thr914Ser					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.T690S	p.T914S	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2768	-			914			CCHC-type.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.2741C>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	2.648	-0.282509	0.05642	.	.	ENSG00000140948	ENST00000268616	T	0.76839	-1.05	5.55	4.57	0.56435	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.180655	0.46442	D	0.000284	T	0.53481	0.1799	N	0.03608	-0.345	0.25579	N	0.986819	B;B	0.17465	0.018;0.022	B;B	0.17433	0.011;0.018	T	0.25222	-1.0138	10	0.02654	T	1	-24.132	15.6516	0.77099	0.0:0.322:0.678:0.0	.	914;914	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	S	914	ENSP00000268616:T914S	ENSP00000268616:T914S	T	-	2	0	ZCCHC14	86002676	1.000000	0.71417	0.938000	0.37757	0.904000	0.53231	3.895000	0.56258	1.425000	0.47237	0.655000	0.94253	ACT		PASS	0.627	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		61	291	61	291	---	---	---	---
CBFA2T3	863	broad.mit.edu	37	16	88951483	88951483	+	Missense_Mutation	SNP	C	C	T	rs544407834		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr16:88951483C>T	ENST00000268679.4	-	7	1484	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277Q|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277Q|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325Q|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000565053.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	363	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R363Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCGTAGCTCCCGGGGGTCTGG	0.687			T	RUNX1	AML								c|||	1	0.000199681	0.0	0.0	5008	,	,		15332	0.001		0.0	False		,,,				2504	0.0					uc002fmm.1				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)	4						c.(1087-1089)CGG>CAG		myeloid translocation gene on chromosome 16							56.0	53.0	54.0					16																	88951483		2189	4292	6481	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88951483C>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1088G>A	16.37:g.88951483C>T	ENSP00000268679:p.Arg363Gln					CBFA2T3_uc002fml.1_Missense_Mutation_p.R277Q|CBFA2T3_uc010cif.1_Missense_Mutation_p.R302Q|CBFA2T3_uc002fmn.1_Missense_Mutation_p.R338Q	p.R363Q	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	7	1274	-			363			Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1088G>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003503	0.35320	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.56275	1.1;0.47;0.76;1.1;1.1	4.12	2.14	0.27477	.	0.331834	0.26719	N	0.022859	T	0.49830	0.1580	M	0.78637	2.42	0.42957	D	0.994394	D;B;B;B	0.54047	0.964;0.05;0.07;0.055	B;B;B;B	0.39904	0.313;0.004;0.022;0.065	T	0.56798	-0.7919	10	0.62326	D	0.03	-13.385	10.2644	0.43447	0.0:0.8334:0.0:0.1666	.	325;363;363;277	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	Q	277;363;325;287;277	ENSP00000332122:R277Q;ENSP00000268679:R363Q;ENSP00000395739:R325Q;ENSP00000401254:R287Q;ENSP00000353449:R277Q	ENSP00000268679:R363Q	R	-	2	0	CBFA2T3	87478984	0.993000	0.37304	0.975000	0.42487	0.077000	0.17291	3.139000	0.50577	0.496000	0.27904	-0.254000	0.11334	CGG		PASS	0.687	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		10	42	10	42	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4883174	4883174	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:4883174C>A	ENST00000348066.3	-	9	1566	c.1443G>T	c.(1441-1443)agG>agT	p.R481S	CAMTA2_ENST00000414043.3_Missense_Mutation_p.R504S|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R480S|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R481S|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R486S|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R483S	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	481					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.R481S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTCTTCCTACCCTGCTTGACG	0.602																																						uc002gah.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1441-1443)AGG>AGT		calmodulin binding transcription activator 2							77.0	79.0	79.0					17																	4883174		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883174C>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1443G>T	17.37:g.4883174C>A	ENSP00000321813:p.Arg481Ser					CAMTA2_uc010cku.1_Missense_Mutation_p.R504S|CAMTA2_uc002gag.1_Missense_Mutation_p.R480S|CAMTA2_uc002gai.1_Missense_Mutation_p.R483S|CAMTA2_uc010ckv.1_Missense_Mutation_p.R128S|CAMTA2_uc010vsu.1_Missense_Mutation_p.R294S	p.R481S	NM_015099	NP_055914	O94983	CMTA2_HUMAN			9	1551	-			481					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1443G>T	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645354	0.47258	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.30981	2.73;1.75;1.51;1.75;1.53	5.09	2.01	0.26516	.	0.154362	0.45126	D	0.000391	T	0.31857	0.0810	N	0.24115	0.695	0.32777	N	0.502946	D;D;D;D;B	0.63046	0.987;0.987;0.992;0.987;0.22	D;D;D;D;B	0.71656	0.942;0.942;0.974;0.942;0.042	T	0.30822	-0.9965	10	0.13108	T	0.6	-16.9497	8.3792	0.32461	0.0:0.7356:0.0:0.2644	.	457;504;483;481;480	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	S	504;483;480;481;481	ENSP00000412886:R504S;ENSP00000370712:R483S;ENSP00000354828:R480S;ENSP00000350910:R481S;ENSP00000321813:R481S	ENSP00000321813:R481S	R	-	3	2	CAMTA2	4823898	0.789000	0.28775	0.987000	0.45799	0.853000	0.48598	0.740000	0.26188	0.314000	0.23086	-0.150000	0.13652	AGG		PASS	0.602	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		86	168	86	168	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(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	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.(373-375)ACG>ACT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7579312C>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.375+1G>T	17.37:g.7579312C>A		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_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	p.T125T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.375G>T	CCDS11118.1																																																																																				PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	44	95	44	95	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8526239	8526239	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:8526239T>C	ENST00000269243.4	-	2	464	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	MYH10_ENST00000379980.4_Missense_Mutation_p.Y109C|MYH10_ENST00000360416.3_Missense_Mutation_p.Y109C|MYH10_ENST00000396239.1_Missense_Mutation_p.Y109C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	109	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Y109C(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTGAATAGTAGCGATCCTT	0.348																																						uc002gll.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)TAC>TGC		myosin, heavy polypeptide 10, non-muscle							114.0	106.0	109.0					17																	8526239		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526239T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.326A>G	17.37:g.8526239T>C	ENSP00000269243:p.Tyr109Cys					MYH10_uc002glm.2_Missense_Mutation_p.Y109C|MYH10_uc010cnx.2_Missense_Mutation_p.Y109C	p.Y109C	NM_005964	NP_005955	P35580	MYH10_HUMAN			2	422	-			109			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.326A>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737898	0.69304	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	T;T;D;T;T	0.97688	-1.47;-1.47;-4.49;-1.47;-1.47	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.99789	4.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97900	1.0302	10	0.87932	D	0	.	14.1342	0.65276	0.0:0.0:0.0:1.0	.	109;109;109	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	109	ENSP00000269243:Y109C;ENSP00000353590:Y109C;ENSP00000379539:Y109C;ENSP00000369315:Y109C;ENSP00000408220:Y109C	ENSP00000269243:Y109C	Y	-	2	0	MYH10	8466964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.998000	0.58463	0.459000	0.35465	TAC		PASS	0.348	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			49	100	49	100	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30821850	30821850	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:30821850G>A	ENST00000318217.5	-	22	3252	c.2948C>T	c.(2947-2949)aCg>aTg	p.T983M	RP11-466A19.1_ENST00000581360.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.T895M	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	983	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T983M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GTTGAGCCGCGTCTCCACGGA	0.637																																						uc002hho.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2947-2949)ACG>ATG		myosin ID							101.0	72.0	82.0					17																	30821850		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30821850G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2948C>T	17.37:g.30821850G>A	ENSP00000324527:p.Thr983Met						p.T983M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		22	2960	-			983					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2948C>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635757	0.87760	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.36520	1.25	4.31	4.31	0.51392	Myosin tail 2 (1);	0.178467	0.26631	U	0.023309	T	0.43875	0.1267	L	0.48642	1.525	0.80722	D	1	D	0.57899	0.981	P	0.52957	0.714	T	0.37798	-0.9690	10	0.51188	T	0.08	.	14.655	0.68825	0.0:0.0:1.0:0.0	.	983	O94832	MYO1D_HUMAN	M	983;175	ENSP00000324527:T983M	ENSP00000324527:T983M	T	-	2	0	MYO1D	27845963	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	9.316000	0.96319	2.379000	0.81126	0.655000	0.94253	ACG		PASS	0.637	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			7	64	7	64	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34190546	34190546	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:34190546C>T	ENST00000311880.2	-	7	733	c.585G>A	c.(583-585)gaG>gaA	p.E195E	C17orf66_ENST00000592980.1_Silent_p.E155E|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		195					hematopoietic progenitor cell differentiation (GO:0002244)			p.E195E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ACTTCACTTTCTCTGGACCAG	0.488																																						uc002hke.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(1)	3						c.(583-585)GAG>GAA		hypothetical protein LOC256957							148.0	130.0	136.0					17																	34190546		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34190546C>T																												ENST00000311880.2:c.585G>A	17.37:g.34190546C>T						C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Silent_p.E155E|C17orf66_uc010wcm.1_Silent_p.E161E	p.E195E	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	7	734	-		Ovarian(249;0.17)	195					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.585G>A	CCDS11299.1																																																																																				PASS	0.488	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			33	195	33	195	---	---	---	---
C17orf104	284071	broad.mit.edu	37	17	42744135	42744135	+	Missense_Mutation	SNP	G	G	C	rs372645745		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:42744135G>C	ENST00000409122.2	+	5	998	c.856G>C	c.(856-858)Gat>Cat	p.D286H	C17orf104_ENST00000359945.3_Missense_Mutation_p.D286H|C17orf104_ENST00000409464.1_Missense_Mutation_p.D120H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	286								p.D286H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATCAGGAGTTGATATCTACCA	0.348																																						uc010czv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(856-858)GAT>CAT		hypothetical protein LOC284071		G	HIS/ASP	0,4406		0,0,2203	38.0	37.0	38.0		856	5.4	1.0	17		38	1,8597	1.2+/-3.3	0,1,4298	no	missense	C17orf104	NM_001145080.2	81	0,1,6501	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	286/953	42744135	1,13003	2203	4299	6502	SO:0001583	missense	284071							g.chr17:42744135G>C		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.856G>C	17.37:g.42744135G>C	ENSP00000386452:p.Asp286His					C17orf104_uc002igy.1_Missense_Mutation_p.D120H|C17orf104_uc002igz.3_Missense_Mutation_p.D120H|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.D120H	p.D286H	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			5	856	+			286					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.856G>C	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275480	0.40294	0.0	1.16E-4	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000432494;ENST00000456912;ENST00000409464	T;T;T;T	0.58940	0.31;0.3;0.54;0.3	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.69006	0.3063	L	0.38175	1.15	0.44995	D	0.99801	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71490	-0.4577	10	0.87932	D	0	-9.9683	17.6462	0.88149	0.0:0.0:1.0:0.0	.	286;286;120	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	H	286;286;120;120;120	ENSP00000353028:D286H;ENSP00000386452:D286H;ENSP00000399809:D120H;ENSP00000386586:D120H	ENSP00000353028:D286H	D	+	1	0	C17orf104	40099661	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.338000	0.72963	2.661000	0.90470	0.460000	0.39030	GAT		PASS	0.348	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		6	61	6	61	---	---	---	---
FMNL1	752	broad.mit.edu	37	17	43319802	43319802	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:43319802C>T	ENST00000331495.3	+	16	2316	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Silent_p.F660F|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Silent_p.F238F|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	660	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.F660F(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCACTGTCTTCACAGAGCTCA	0.592																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1978-1980)TTC>TTT		formin-like 1							79.0	64.0	70.0					17																	43319802		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43319802C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1980C>T	17.37:g.43319802C>T						FMNL1_uc002iiq.2_Silent_p.F238F|FMNL1_uc010dag.2_RNA	p.F660F	NM_005892	NP_005883	O95466	FMNL_HUMAN			16	2180	+			660			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.1980C>T	CCDS11497.1																																																																																				PASS	0.592	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		52	115	52	115	---	---	---	---
LUC7L3	51747	broad.mit.edu	37	17	48797172	48797172	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:48797172G>T	ENST00000505658.1	+	1	268	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	LUC7L3_ENST00000240304.1_Missense_Mutation_p.V27L|LUC7L3_ENST00000311571.3_Missense_Mutation_p.V27L|LUC7L3_ENST00000544170.1_5'UTR|LUC7L3_ENST00000393227.2_Missense_Mutation_p.V27L			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	27					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.V27L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GCGCAGCAACGTGCGGTGGGA	0.697																																						uc002isr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GTG>TTG		LUC7-like 3							44.0	38.0	40.0					17																	48797172		2198	4299	6497	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48797172G>T		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.79G>T	17.37:g.48797172G>T	ENSP00000425092:p.Val27Leu					LUC7L3_uc002isp.1_5'UTR|LUC7L3_uc010wmw.1_5'UTR|LUC7L3_uc002isq.2_Missense_Mutation_p.V27L|LUC7L3_uc002iss.2_Missense_Mutation_p.V27L	p.V27L	NM_006107	NP_006098	O95232	LC7L3_HUMAN			1	196	+			27					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.79G>T	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438950	0.83885	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000311571;ENST00000505619	T;T;T;T	0.46451	1.06;1.04;1.06;0.87	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	N	0.25060	0.705	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.29058	-1.0024	10	0.11794	T	0.64	-6.1615	18.3137	0.90210	0.0:0.0:1.0:0.0	.	27;27	O95232;A8K3C5	LC7L3_HUMAN;.	L	27	ENSP00000425092:V27L;ENSP00000376919:V27L;ENSP00000240304:V27L;ENSP00000420933:V27L	ENSP00000240304:V27L	V	+	1	0	LUC7L3	46152171	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.162000	0.94745	2.546000	0.85860	0.655000	0.94253	GTG		PASS	0.697	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		4	26	4	26	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60754815	60754815	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:60754815G>T	ENST00000303375.5	+	12	2422	c.2020G>T	c.(2020-2022)Gcc>Tcc	p.A674S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	674					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.A674S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAGGGCTGGGCCTCGGACAC	0.657																																						uc002jad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2020-2022)GCC>TCC		mannose receptor, C type 2							15.0	17.0	16.0					17																	60754815		2200	4290	6490	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60754815G>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2020G>T	17.37:g.60754815G>T	ENSP00000307513:p.Ala674Ser					MRC2_uc010ddq.1_RNA	p.A674S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			12	2422	+			674			Extracellular (Potential).		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2020G>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302120	0.40694	.	.	ENSG00000011028	ENST00000303375	T	0.07216	3.21	4.71	4.71	0.59529	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.539945	0.20610	N	0.089000	T	0.02571	0.0078	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45425	-0.9262	10	0.10377	T	0.69	-7.2589	5.5866	0.17277	0.2384:0.0:0.7616:0.0	.	674	Q9UBG0	MRC2_HUMAN	S	674	ENSP00000307513:A674S	ENSP00000307513:A674S	A	+	1	0	MRC2	58108547	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.882000	0.63121	2.425000	0.82216	0.555000	0.69702	GCC		PASS	0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			5	34	5	34	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73780870	73780870	+	5'UTR	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:73780870C>G	ENST00000589666.1	+	0	19				MIR4738_ENST00000579134.1_RNA|H3F3B_ENST00000586607.1_Intron|UNK_ENST00000293218.3_Missense_Mutation_p.S46W	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S46W(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCACGTTCTCGTGGCGCGGC	0.612																																						uc002jpm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)TCG>TGG		zinc finger CCCH-type domain containing 5							21.0	27.0	25.0					17																	73780870		1905	4113	6018	SO:0001623	5_prime_UTR_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780870C>G	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.-92C>G	17.37:g.73780870C>G						UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	p.S46W	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	137	+			Error:Variant_position_missing_in_Q9C0B0_after_alignment						Missense_Mutation	SNP	ENST00000589666.1	37	c.137C>G	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917433	0.73098	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.88	4.92	0.64577	.	.	.	.	.	T	0.66376	0.2783	.	.	.	0.37905	D	0.93118	.	.	.	.	.	.	T	0.72487	-0.4278	5	0.62326	D	0.03	.	10.8609	0.46825	0.0:0.7608:0.1665:0.0727	.	.	.	.	W	46	.	ENSP00000293218:S46W	S	+	2	0	UNK	71292465	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.703000	0.47110	1.491000	0.48482	0.655000	0.94253	TCG		PASS	0.612	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		7	60	7	60	---	---	---	---
LGALS3BP	3959	broad.mit.edu	37	17	76967746	76967746	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr17:76967746G>A	ENST00000262776.3	-	6	1978	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	557					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)	p.S557F(2)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGGAAGGAGGAGGTGCTCTT	0.632											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	uc002jwh.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	central_nervous_system(3)|ovary(1)	4						c.(1669-1671)TCC>TTC		galectin 3 binding protein							59.0	55.0	56.0					17																	76967746		2203	4300	6503	SO:0001583	missense	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967746G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1670C>T	17.37:g.76967746G>A	ENSP00000262776:p.Ser557Phe		OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_uc002jwi.2_Missense_Mutation_p.S363F|LGALS3BP_uc010dhr.2_Missense_Mutation_p.S363F	p.S557F	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1849	-			557					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	c.1670C>T	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557172	0.45590	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01484	4.84	3.42	2.44	0.29823	.	0.228757	0.22682	N	0.056934	T	0.06462	0.0166	M	0.64997	1.995	0.22961	N	0.998508	D	0.71674	0.998	D	0.77557	0.99	T	0.08330	-1.0727	10	0.72032	D	0.01	-48.4936	6.9499	0.24540	0.1282:0.0:0.8718:0.0	.	557	Q08380	LG3BP_HUMAN	F	557;545	ENSP00000262776:S557F	ENSP00000262776:S557F	S	-	2	0	LGALS3BP	74479341	0.581000	0.26741	0.003000	0.11579	0.015000	0.08874	2.014000	0.40951	1.002000	0.39104	0.491000	0.48974	TCC		PASS	0.632	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		21	141	21	141	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2934442	2934442	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr18:2934442T>C	ENST00000261596.4	-	8	1413	c.1175A>G	c.(1174-1176)cAc>cGc	p.H392R		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	392					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.H392R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTTCTTTTGTGAACACCTGT	0.373																																						uc002klo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1174-1176)CAC>CGC		lipin 2							78.0	73.0	74.0					18																	2934442		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2934442T>C	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1175A>G	18.37:g.2934442T>C	ENSP00000261596:p.His392Arg						p.H392R	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	8	1414	-			392					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.1175A>G	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	T	6.864	0.528697	0.13127	.	.	ENSG00000101577	ENST00000261596	T	0.79454	-1.27	5.75	5.75	0.90469	.	0.104284	0.64402	D	0.000001	T	0.68274	0.2983	L	0.45470	1.425	0.35005	D	0.75634	B	0.06786	0.001	B	0.06405	0.002	T	0.67409	-0.5678	10	0.14656	T	0.56	.	10.4018	0.44233	0.0:0.0728:0.0:0.9272	.	392	Q92539	LPIN2_HUMAN	R	392	ENSP00000261596:H392R	ENSP00000261596:H392R	H	-	2	0	LPIN2	2924442	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.180000	0.58296	2.193000	0.70182	0.528000	0.53228	CAC		PASS	0.373	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		16	135	16	135	---	---	---	---
ANKRD20A5P	440482	broad.mit.edu	37	18	14179555	14179555	+	RNA	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr18:14179555G>T	ENST00000581935.1	+	0	460							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene									p.A6A(1)		lung(3)	3						GCTGTCTGGCGCGCAGGAGCG	0.662																																						uc010xag.1																			1	Substitution - coding silent(1)		lung(1)								c.(160-162)GCG>GCT		RecName: Full=Putative ankyrin repeat domain-containing protein 20A5;							15.0	17.0	16.0					18																	14179555		2185	4256	6441			0							g.chr18:14179555G>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14179555G>T							p.A54A							1	460	+								Q4G1B6	Silent	SNP	ENST00000581935.1	37	c.162G>T																																																																																					PASS	0.662	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			12	31	12	31	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18546931	18546931	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr18:18546931G>C	ENST00000399799.2	-	27	4239	c.3299C>G	c.(3298-3300)tCt>tGt	p.S1100C		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1100					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1100C(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AACACTTGTAGAATCCGAGAG	0.398																																						uc002kte.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(3298-3300)TCT>TGT		Rho-associated, coiled-coil containing protein							151.0	136.0	141.0					18																	18546931		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18546931G>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3299C>G	18.37:g.18546931G>C	ENSP00000382697:p.Ser1100Cys						p.S1100C	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			27	4240	-	Melanoma(1;0.165)		1100			Potential.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3299C>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691890	0.68271	.	.	ENSG00000067900	ENST00000399799	T	0.14640	2.49	5.62	4.73	0.59995	.	0.184196	0.47455	D	0.000235	T	0.30885	0.0779	L	0.61218	1.895	0.34055	D	0.656595	D	0.62365	0.991	P	0.57776	0.827	T	0.49214	-0.8963	10	0.59425	D	0.04	.	16.4538	0.84007	0.0:0.1316:0.8684:0.0	.	1100	Q13464	ROCK1_HUMAN	C	1100	ENSP00000382697:S1100C	ENSP00000382697:S1100C	S	-	2	0	ROCK1	16800929	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.388000	0.59633	1.353000	0.45828	0.591000	0.81541	TCT		PASS	0.398	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		31	185	31	185	---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34901833	34901833	+	Silent	SNP	C	C	A	rs41352348	byFrequency	TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr18:34901833C>A	ENST00000591282.1	-	3	380	c.381G>T	c.(379-381)ccG>ccT	p.P127P	CELF4_ENST00000603232.1_Silent_p.P127P|CELF4_ENST00000412753.1_Silent_p.P127P|CELF4_ENST00000601019.1_Silent_p.P127P|CELF4_ENST00000420428.2_Silent_p.P127P|CELF4_ENST00000334919.5_Silent_p.P127P|CELF4_ENST00000361795.5_Silent_p.P127P|CELF4_ENST00000588597.1_Silent_p.P127P|CELF4_ENST00000591287.1_Silent_p.P127P			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.P127P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCACCTGGATCGGCCGGTTCA	0.642											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lae.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(379-381)CCG>CCT		bruno-like 4, RNA binding protein isoform 1							59.0	50.0	53.0					18																	34901833		2203	4300	6503	SO:0001819	synonymous_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34901833C>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.381G>T	18.37:g.34901833C>A			OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	851	CELF4_uc010dnd.1_Silent_p.P127P|CELF4_uc002lag.2_Silent_p.P127P|CELF4_uc002laf.2_Silent_p.P123P|CELF4_uc002lai.2_Silent_p.P123P	p.P127P	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			3	777	-			127			RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.381G>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	8.152	0.787500	0.16258	.	.	ENSG00000101489	ENST00000361683	.	.	.	5.19	-6.16	0.02098	.	.	.	.	.	T	0.56470	0.1987	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62581	-0.6824	5	0.56958	D	0.05	-7.4318	8.2912	0.31958	0.0:0.3385:0.2665:0.395	.	.	.	.	Y	22	.	ENSP00000355189:D22Y	D	-	1	0	CELF4	33155831	0.003000	0.15002	0.760000	0.31359	0.887000	0.51463	-2.080000	0.01368	-1.489000	0.01844	-2.706000	0.00135	GAT		PASS	0.642	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		10	55	10	55	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55021655	55021655	+	Silent	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr18:55021655C>T	ENST00000324000.3	+	2	2236	c.202C>T	c.(202-204)Cta>Tta	p.L68L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	68					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.L68L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCTGAAGTTTCTAGACCCGTC	0.502																																						uc002lgn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(202-204)CTA>TTA		ST8 alpha-N-acetyl-neuraminide							146.0	137.0	140.0					18																	55021655		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55021655C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.202C>T	18.37:g.55021655C>T							p.L68L	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	2	559	+			68			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.202C>T	CCDS32834.1																																																																																				PASS	0.502	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		48	276	48	276	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60570353	60570353	+	Silent	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr18:60570353A>G	ENST00000262719.5	+	7	2835	c.2601A>G	c.(2599-2601)ttA>ttG	p.L867L	PHLPP1_ENST00000400316.4_Silent_p.L355L			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	867					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.L867L(2)|p.L354L(1)		endometrium(2)|kidney(2)|lung(13)	17						TGGTCACATTAGACATCTGTG	0.393																																						uc002lis.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(1063-1065)TTA>TTG		PH domain and leucine rich repeat protein							183.0	170.0	174.0					18																	60570353		1873	4120	5993	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60570353A>G	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.2601A>G	18.37:g.60570353A>G							p.L355L	NM_194449	NP_919431	O60346	PHLP1_HUMAN			8	1243	+			867					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.1065A>G	CCDS45881.2																																																																																				PASS	0.393	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		31	236	31	236	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67833309	67833309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr18:67833309C>A	ENST00000255674.6	-	14	2204	c.1918G>T	c.(1918-1920)Gaa>Taa	p.E640*	RTTN_ENST00000454359.1_Nonsense_Mutation_p.E640*|RTTN_ENST00000437017.1_Nonsense_Mutation_p.E640*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	640					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E640*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTCGTGATTTCCAGACAGCAG	0.393																																						uc002lkp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(1918-1920)GAA>TAA		rotatin							67.0	66.0	66.0					18																	67833309		1906	4124	6030	SO:0001587	stop_gained	25914						binding	g.chr18:67833309C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1918G>T	18.37:g.67833309C>A	ENSP00000255674:p.Glu640*					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	p.E640*	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			14	1986	-		Esophageal squamous(42;0.129)	640					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	c.1918G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	38	7.144076	0.98092	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	.	.	.	5.42	4.53	0.55603	.	0.277064	0.40728	N	0.001027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.4361	0.44437	0.0:0.7911:0.1358:0.0731	.	.	.	.	X	640	.	ENSP00000255674:E640X	E	-	1	0	RTTN	65984289	1.000000	0.71417	0.984000	0.44739	0.396000	0.30629	1.877000	0.39598	1.231000	0.43661	0.585000	0.79938	GAA		PASS	0.393	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		14	53	14	53	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10260160	10260160	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:10260160T>A	ENST00000340748.4	-	25	2742	c.2507A>T	c.(2506-2508)tAc>tTc	p.Y836F	DNMT1_ENST00000359526.4_Missense_Mutation_p.Y852F|DNMT1_ENST00000540357.1_Missense_Mutation_p.Y836F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	836	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Y836F(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGGGGCTTTGTAGATGACTTT	0.557																																						uc002mng.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(2506-2508)TAC>TTC		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						191.0	199.0	196.0					19																	10260160		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10260160T>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2507A>T	19.37:g.10260160T>A	ENSP00000345739:p.Tyr836Phe					DNMT1_uc010xlc.1_Missense_Mutation_p.Y852F|DNMT1_uc002mnh.2_Missense_Mutation_p.Y731F|DNMT1_uc010xld.1_Missense_Mutation_p.Y836F	p.Y836F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		25	2687	-			836			BAH 1.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2507A>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082150	0.36758	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85773	-2.03;-2.03;-2.03	5.71	5.71	0.89125	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	L	0.58669	1.825	0.58432	D	0.999999	B;B;B	0.23058	0.044;0.079;0.054	B;B;B	0.27715	0.049;0.049;0.082	T	0.79952	-0.1586	10	0.37606	T	0.19	.	14.9731	0.71249	0.0:0.0:0.0:1.0	.	836;852;836	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	F	852;836;836;704	ENSP00000352516:Y852F;ENSP00000440457:Y836F;ENSP00000345739:Y836F	ENSP00000345739:Y836F	Y	-	2	0	DNMT1	10121160	1.000000	0.71417	0.032000	0.17829	0.054000	0.15201	7.989000	0.88205	2.176000	0.68965	0.533000	0.62120	TAC		PASS	0.557	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		208	392	208	392	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602314	10602314	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:10602314C>T	ENST00000171111.5	-	3	1811	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.D422N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	422					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.D422N(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATGTGGCCATCGATGACCCCC	0.667																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1264-1266)GAT>AAT		kelch-like ECH-associated protein 1							29.0	26.0	27.0					19																	10602314		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602314C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1264G>A	19.37:g.10602314C>T	ENSP00000171111:p.Asp422Asn					KEAP1_uc002mop.1_Missense_Mutation_p.D140N|KEAP1_uc002mor.1_Missense_Mutation_p.D422N	p.D422N	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1420	-			422			Kelch 2.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1264G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635434	0.87760	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80566	-1.39;-1.39	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	L	0.27053	0.805	0.80722	D	1	P	0.49307	0.922	P	0.46796	0.527	T	0.71454	-0.4588	10	0.19147	T	0.46	.	17.4866	0.87691	0.0:1.0:0.0:0.0	.	422	Q14145	KEAP1_HUMAN	N	422	ENSP00000171111:D422N;ENSP00000377245:D422N	ENSP00000171111:D422N	D	-	1	0	KEAP1	10463314	1.000000	0.71417	0.946000	0.38457	0.948000	0.59901	5.913000	0.69957	2.745000	0.94114	0.655000	0.94253	GAT		PASS	0.667	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		5	26	5	26	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271945	22271945	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:22271945G>T	ENST00000594947.1	+	4	1537	c.1393G>T	c.(1393-1395)Ggc>Tgc	p.G465C		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	465					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.G465C(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAAGAGTGTGGCAAAGCCTT	0.403																																						uc010ecx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1393-1395)GGC>TGC		zinc finger protein 257							43.0	49.0	47.0					19																	22271945		2135	4259	6394	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271945G>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1393G>T	19.37:g.22271945G>T	ENSP00000470209:p.Gly465Cys					ZNF257_uc010ecy.2_Missense_Mutation_p.G433C	p.G465C	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1562	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	465			C2H2-type 11.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1393G>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075783	0.36662	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75162	0.3812	H	0.97983	4.12	0.26130	N	0.980432	D	0.57571	0.98	P	0.54499	0.754	T	0.67389	-0.5683	8	0.87932	D	0	.	9.0461	0.36347	0.0:0.0:1.0:0.0	.	465	Q9Y2Q1	ZN257_HUMAN	C	465;437	.	ENSP00000380312:G437C	G	+	1	0	ZNF257	22063785	1.000000	0.71417	0.030000	0.17652	0.011000	0.07611	1.714000	0.37961	0.518000	0.28383	0.313000	0.20887	GGC		PASS	0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			32	102	32	102	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34791501	34791501	+	Silent	SNP	G	G	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:34791501G>C	ENST00000299505.6	+	2	996	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	41								p.L41L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCGAGCACTGAGTGCTCCCC	0.637																																						uc002nvd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(121-123)CTG>CTC		hypothetical protein LOC9710							41.0	35.0	37.0					19																	34791501		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34791501G>C		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.123G>C	19.37:g.34791501G>C						KIAA0355_uc010edk.1_Silent_p.L31L	p.L41L	NM_014686	NP_055501	O15063	K0355_HUMAN			2	982	+	Esophageal squamous(110;0.162)		41					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.123G>C	CCDS12436.1																																																																																				PASS	0.637	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		14	69	14	69	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42828932	42828932	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:42828932G>T	ENST00000301204.3	+	15	1486	c.1445G>T	c.(1444-1446)cGt>cTt	p.R482L	MEGF8_ENST00000334370.4_5'Flank|MEGF8_ENST00000251268.6_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	482					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.R482L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCGCTGTTCCGTGACCTCCGG	0.726																																						uc002otk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1444-1446)CGT>CTT		transmembrane protein 145							10.0	13.0	12.0					19																	42828932		2190	4287	6477	SO:0001583	missense	284339					integral to membrane		g.chr19:42828932G>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1445G>T	19.37:g.42828932G>T	ENSP00000301204:p.Arg482Leu					MEGF8_uc002otl.3_5'Flank	p.R482L	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			15	1497	+		Prostate(69;0.00682)	482						Missense_Mutation	SNP	ENST00000301204.3	37	c.1445G>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	16.01	2.999925	0.54147	.	.	ENSG00000167619	ENST00000301204	T	0.52057	0.68	3.91	2.74	0.32292	.	351.279000	0.00166	N	0.000019	T	0.31606	0.0802	N	0.08118	0	0.25995	N	0.982194	B	0.15473	0.013	B	0.06405	0.002	T	0.19844	-1.0293	10	0.52906	T	0.07	.	7.9646	0.30091	0.0:0.0:0.7559:0.2441	.	482	Q8NBT3	TM145_HUMAN	L	482	ENSP00000301204:R482L	ENSP00000301204:R482L	R	+	2	0	TMEM145	47520772	0.941000	0.31946	1.000000	0.80357	0.998000	0.95712	1.481000	0.35476	2.128000	0.65567	0.557000	0.71058	CGT		PASS	0.726	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		6	17	6	17	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243100	50243100	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:50243100C>T	ENST00000246801.3	-	11	1794	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	TSKS_ENST00000358830.3_Missense_Mutation_p.G371E	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	571					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.G571E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCATTGTTCCCGTGGACCC	0.562																																						uc002ppm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1711-1713)GGA>GAA		testis-specific kinase substrate							103.0	101.0	101.0					19																	50243100		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243100C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1712G>A	19.37:g.50243100C>T	ENSP00000246801:p.Gly571Glu						p.G571E	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1723	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	571					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1712G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332267	0.41297	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.29142	1.58;1.58	5.29	4.21	0.49690	.	0.298679	0.24165	N	0.040952	T	0.32941	0.0846	N	0.24115	0.695	0.30994	N	0.721123	P	0.51351	0.944	P	0.56042	0.79	T	0.13361	-1.0512	10	0.41790	T	0.15	-33.2898	12.0702	0.53611	0.0:0.8279:0.1721:0.0	.	571	Q9UJT2	TSKS_HUMAN	E	571;371	ENSP00000246801:G571E;ENSP00000351691:G371E	ENSP00000246801:G571E	G	-	2	0	TSKS	54934912	0.596000	0.26866	0.986000	0.45419	0.020000	0.10135	1.980000	0.40618	2.471000	0.83476	0.609000	0.83330	GGA		PASS	0.562	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		62	142	62	142	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55396678	55396678	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:55396678A>T	ENST00000355524.3	+	3	112	c.102A>T	c.(100-102)aaA>aaT	p.K34N	FCAR_ENST00000359272.4_Missense_Mutation_p.K22N|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.K34N|FCAR_ENST00000391726.3_Missense_Mutation_p.K22N|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.K34N|FCAR_ENST00000391723.3_Missense_Mutation_p.K22N|FCAR_ENST00000345937.4_Missense_Mutation_p.K34N|FCAR_ENST00000391724.3_Missense_Mutation_p.K22N	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	34					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.K34N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TATCTGCCAAATCGAGTCCTG	0.502																																						uc002qhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(100-102)AAA>AAT		Fc alpha receptor isoform a precursor							67.0	65.0	65.0					19																	55396678		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396678A>T	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.102A>T	19.37:g.55396678A>T	ENSP00000347714:p.Lys34Asn					FCAR_uc002qhq.2_Missense_Mutation_p.K34N|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.K7N|FCAR_uc010esi.1_Missense_Mutation_p.K7N|FCAR_uc002qhu.1_Missense_Mutation_p.K34N|FCAR_uc002qhv.1_Missense_Mutation_p.K34N|FCAR_uc002qhw.1_Missense_Mutation_p.K22N|FCAR_uc002qhx.1_Missense_Mutation_p.K22N|FCAR_uc002qhy.1_Missense_Mutation_p.K22N|FCAR_uc002qhz.1_Missense_Mutation_p.K22N|FCAR_uc002qia.1_Intron	p.K34N	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	299	+			34			Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.102A>T	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	A	7.004	0.555408	0.13436	.	.	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T;T	0.12147	2.8;2.71;2.71;2.8;2.71;2.71;2.71	3.19	-6.38	0.01957	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.138560	0.01439	N	0.015030	T	0.18257	0.0438	L	0.54323	1.7	0.09310	N	1	P;B;B;B;B;B;B;P	0.40476	0.718;0.215;0.064;0.038;0.08;0.142;0.046;0.542	P;B;B;B;B;B;B;B	0.46339	0.513;0.116;0.04;0.049;0.132;0.041;0.031;0.118	T	0.35176	-0.9799	10	0.72032	D	0.01	.	5.6395	0.17557	0.6485:0.1087:0.1333:0.1095	.	22;22;22;22;34;34;34;34	Q92588;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071;P24071-4	.;.;.;.;.;.;FCAR_HUMAN;.	N	34;22;34;34;34;22;22;22	ENSP00000375606:K22N;ENSP00000347714:K34N;ENSP00000375605:K34N;ENSP00000338257:K34N;ENSP00000352218:K22N;ENSP00000375603:K22N;ENSP00000375604:K22N	ENSP00000338257:K34N	K	+	3	2	FCAR	60088490	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.995000	0.00317	-2.917000	0.00306	-1.032000	0.02404	AAA		PASS	0.502	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		4	88	4	88	---	---	---	---
ZNF444	55311	broad.mit.edu	37	19	56669923	56669923	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:56669923G>T	ENST00000337080.3	+	4	725	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C	ZNF444_ENST00000592949.1_Missense_Mutation_p.G120C|ZNF444_ENST00000592171.1_3'UTR	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	120					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G120C(2)		NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGTGACGCAGGGCCCTGGGGC	0.627																																						uc002qmm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(358-360)GGC>TGC		zinc finger protein 444							86.0	71.0	76.0					19																	56669923		2203	4300	6503	SO:0001583	missense	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56669923G>T	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.358G>T	19.37:g.56669923G>T	ENSP00000338860:p.Gly120Cys					ZNF444_uc002qmn.1_Missense_Mutation_p.G120C	p.G120C	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	4	725	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	120					Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	c.358G>T	CCDS12939.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243301	0.39697	.	.	ENSG00000167685	ENST00000337080	T	0.04758	3.56	3.63	2.59	0.31030	Transcription regulator SCAN (1);	.	.	.	.	T	0.09335	0.0230	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.67382	0.951;0.894	T	0.25398	-1.0133	9	0.56958	D	0.05	.	6.8924	0.24236	0.1289:0.0:0.8711:0.0	.	120;120	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	C	120	ENSP00000338860:G120C	ENSP00000338860:G120C	G	+	1	0	ZNF444	61361735	0.009000	0.17119	0.156000	0.22583	0.005000	0.04900	0.782000	0.26788	0.879000	0.35944	0.557000	0.71058	GGC		PASS	0.627	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		24	58	24	58	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701294	56701294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:56701294C>A	ENST00000586855.2	-	5	1703	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.E464*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	464					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E464*(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAGGGCTTCTCTCCGGAGTGG	0.537																																						uc010ygh.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1390-1392)GAG>TAG		zinc finger and SCAN domain containing 5B							82.0	83.0	82.0					19																	56701294		2087	4243	6330	SO:0001587	stop_gained	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701294C>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1390G>T	19.37:g.56701294C>A	ENSP00000466072:p.Glu464*						p.E464*	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1390	-			464						Nonsense_Mutation	SNP	ENST00000586855.2	37	c.1390G>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465052	0.43839	.	.	ENSG00000197213	ENST00000358992	.	.	.	3.28	-5.69	0.02428	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999984	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	1.7168	0.02903	0.141:0.4536:0.1316:0.2737	.	.	.	.	X	464	.	ENSP00000351883:E464X	E	-	1	0	ZSCAN5B	61393106	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.148000	0.16224	-1.075000	0.03129	0.461000	0.40582	GAG		PASS	0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		18	66	18	66	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701908	56701908	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:56701908T>C	ENST00000586855.2	-	5	1089	c.776A>G	c.(775-777)aAa>aGa	p.K259R	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.K259R			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	259					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K259R(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGGCTCTTTTCTGGGGTTC	0.488																																						uc010ygh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(775-777)AAA>AGA		zinc finger and SCAN domain containing 5B							94.0	92.0	93.0					19																	56701908		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701908T>C		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.776A>G	19.37:g.56701908T>C	ENSP00000466072:p.Lys259Arg						p.K259R	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	776	-			259						Missense_Mutation	SNP	ENST00000586855.2	37	c.776A>G	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	T	7.558	0.664184	0.14710	.	.	ENSG00000197213	ENST00000358992	T	0.05855	3.38	1.56	1.56	0.23342	.	.	.	.	.	T	0.06872	0.0175	M	0.72479	2.2	0.09310	N	1	P	0.46395	0.877	B	0.38106	0.265	T	0.30031	-0.9992	9	0.21014	T	0.42	.	5.2802	0.15670	0.0:0.0:0.0:1.0	.	259	A6NJL1	ZSA5B_HUMAN	R	259	ENSP00000351883:K259R	ENSP00000351883:K259R	K	-	2	0	ZSCAN5B	61393720	0.332000	0.24722	0.006000	0.13384	0.015000	0.08874	1.179000	0.31993	0.983000	0.38602	0.254000	0.18369	AAA		PASS	0.488	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		36	179	36	179	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58601243	58601243	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr19:58601243A>G	ENST00000240727.6	-	2	791	c.392T>C	c.(391-393)cTg>cCg	p.L131P	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.L131P|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.L187P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	131	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L131P(1)|p.L187P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGCTCTTCCAGGACATCAGC	0.632																																						uc002qri.2																			2	Substitution - Missense(2)		lung(2)		0						c.(391-393)CTG>CCG		zinc finger and SCAN domain containing 18							54.0	57.0	56.0					19																	58601243		2203	4300	6503	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601243A>G	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.392T>C	19.37:g.58601243A>G	ENSP00000240727:p.Leu131Pro					ZSCAN18_uc002qrj.3_Missense_Mutation_p.L131P|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.L131P|ZSCAN18_uc010yht.1_Missense_Mutation_p.L187P|ZSCAN18_uc002qrk.1_Missense_Mutation_p.L131P|ZSCAN18_uc002qrl.2_Missense_Mutation_p.L131P	p.L131P	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	2	701	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	131			SCAN box.		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.392T>C	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	A	8.972	0.973171	0.18736	.	.	ENSG00000121413	ENST00000433686;ENST00000240727	T	0.05996	3.36	2.99	1.94	0.25998	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.12987	0.0315	L	0.35854	1.095	0.09310	N	0.999993	D;D;D;B	0.71674	0.998;0.998;0.998;0.256	D;D;D;B	0.79108	0.992;0.972;0.989;0.443	T	0.15954	-1.0419	9	0.49607	T	0.09	-10.9603	6.1613	0.20366	0.7376:0.2624:0.0:0.0	.	187;201;131;131	B4DG23;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	P	187;131	ENSP00000240727:L131P	ENSP00000240727:L131P	L	-	2	0	ZSCAN18	63293055	0.000000	0.05858	0.167000	0.22817	0.168000	0.22595	-0.255000	0.08769	0.534000	0.28695	0.459000	0.35465	CTG		PASS	0.632	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		38	137	38	137	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961086	1961086	+	Silent	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr20:1961086G>T	ENST00000217305.2	-	4	873	c.648C>A	c.(646-648)ccC>ccA	p.P216P	PDYN_ENST00000539905.1_Silent_p.P216P|PDYN_ENST00000540134.1_Silent_p.P216P|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	216					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.P216P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTTGAGCTTGGGACGAATGC	0.592																																						uc010gaj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(646-648)CCC>CCA		beta-neoendorphin-dynorphin preproprotein							102.0	112.0	109.0					20																	1961086		2203	4300	6503	SO:0001819	synonymous_variant	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961086G>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.648C>A	20.37:g.1961086G>T						uc002wfu.1_Intron|PDYN_uc002wfv.2_Silent_p.P216P|PDYN_uc010zpt.1_Silent_p.P61P	p.P216P	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	890	-			216					A8K0Q3	Silent	SNP	ENST00000217305.2	37	c.648C>A	CCDS13023.1																																																																																				PASS	0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			71	226	71	226	---	---	---	---
C20orf196	149840	broad.mit.edu	37	20	5753675	5753675	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr20:5753675C>G	ENST00000303142.6	+	2	251	c.164C>G	c.(163-165)tCt>tGt	p.S55C	C20orf196_ENST00000378979.4_Missense_Mutation_p.S55C	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	55								p.S55C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						CCTTATTCTTCTGATGTGGAT	0.413																																						uc002wmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)TCT>TGT		hypothetical protein LOC149840							130.0	125.0	127.0					20																	5753675		2203	4300	6503	SO:0001583	missense	149840							g.chr20:5753675C>G	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.164C>G	20.37:g.5753675C>G	ENSP00000305875:p.Ser55Cys						p.S55C	NM_152504	NP_689717	Q8IYI0	CT196_HUMAN			2	251	+			55					A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	c.164C>G	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390135	0.61956	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.66	3.3	0.37823	.	0.377447	0.23321	N	0.049448	T	0.62221	0.2410	M	0.64997	1.995	0.32623	N	0.52309	D	0.76494	0.999	D	0.66979	0.948	T	0.69401	-0.5155	10	0.87932	D	0	-11.7024	5.0967	0.14737	0.0:0.6589:0.2088:0.1323	.	55	Q8IYI0	CT196_HUMAN	C	55;55;55;55;102;102	ENSP00000368263:S55C;ENSP00000305875:S55C;ENSP00000399331:S55C;ENSP00000410534:S102C	ENSP00000305875:S55C	S	+	2	0	C20orf196	5701675	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	1.198000	0.32223	1.485000	0.48380	0.650000	0.86243	TCT		PASS	0.413	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		36	235	36	235	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33575444	33575444	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr20:33575444A>C	ENST00000262873.7	+	15	1450	c.1358A>C	c.(1357-1359)aAc>aCc	p.N453T	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	411	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.N453T(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGTGTAGGGAACGAGTACGTG	0.652																																						uc002xbi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1357-1359)AAC>ACC		myosin, heavy polypeptide 7B, cardiac muscle,							101.0	112.0	108.0					20																	33575444		2083	4196	6279	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575444A>C	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1358A>C	20.37:g.33575444A>C	ENSP00000262873:p.Asn453Thr					MIR499_hsa-mir-499|MI0003183_5'Flank	p.N453T	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		15	1450	+			411			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1358A>C	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818877	0.71028	.	.	ENSG00000078814	ENST00000262873	D	0.86865	-2.18	3.53	3.53	0.40419	Myosin head, motor domain (2);	0.000000	0.38272	N	0.001756	D	0.88855	0.6550	L	0.48986	1.54	0.49213	D	0.999762	P	0.52316	0.952	P	0.58013	0.831	D	0.87896	0.2687	10	0.38643	T	0.18	.	13.1334	0.59395	1.0:0.0:0.0:0.0	.	411	A7E2Y1	MYH7B_HUMAN	T	453	ENSP00000262873:N453T	ENSP00000262873:N453T	N	+	2	0	MYH7B	33039105	1.000000	0.71417	0.956000	0.39512	0.834000	0.47266	9.109000	0.94291	1.849000	0.53698	0.459000	0.35465	AAC		PASS	0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		44	253	44	253	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33872226	33872226	+	IGR	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr20:33872226G>A	ENST00000374408.3	-	0	3145				EIF6_ENST00000374436.3_Missense_Mutation_p.T22I|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374450.3_Missense_Mutation_p.T22I|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.T22I	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C									p.T22I(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)			CAGACAGTAGGTGTTGGTGAG	0.642																																						uc002xbv.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(64-66)ACC>ATC		eukaryotic translation initiation factor 6							88.0	98.0	95.0					20																	33872226		2185	4288	6473	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33872226G>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		20.37:g.33872226G>A						EIF6_uc002xbx.1_Missense_Mutation_p.T22I|EIF6_uc002xbz.1_Missense_Mutation_p.T22I|EIF6_uc002xby.1_RNA	p.T22I	NM_181468	NP_852133	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	281	-			22					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.65C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233575	0.95207	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450;ENST00000456600	.	.	.	5.42	4.46	0.54185	.	0.226248	0.44483	D	0.000449	T	0.73063	0.3539	M	0.71581	2.175	0.40951	D	0.984546	P;B	0.36712	0.566;0.067	B;P	0.51615	0.223;0.675	T	0.76561	-0.2914	9	0.87932	D	0	-14.2159	13.0251	0.58810	0.0781:0.0:0.9219:0.0	.	22;22	B7ZBG9;P56537	.;IF6_HUMAN	I	22	.	ENSP00000363559:T22I	T	-	2	0	EIF6	33335640	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	3.369000	0.52365	2.717000	0.92951	0.561000	0.74099	ACC		PASS	0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			62	178	62	178	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15481335	15481335	+	Silent	SNP	T	T	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr21:15481335T>G	ENST00000536861.1	-	10	1361	c.1362A>C	c.(1360-1362)acA>acC	p.T454T	AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA|LIPI_ENST00000344577.2_Silent_p.T475T			Q6XZB0	LIPI_HUMAN	lipase, member I	454					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.T475T(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGGTGTACATGTGTTTGGAT	0.333																																						uc002yjm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1423-1425)ACA>ACC		lipase, member I							183.0	183.0	183.0					21																	15481335		2203	4299	6502	SO:0001819	synonymous_variant	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15481335T>G	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1362A>C	21.37:g.15481335T>G						uc002yjk.2_Intron|uc002yjl.2_Intron	p.T475T	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	10	1435	-			454					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37	c.1425A>C																																																																																					PASS	0.333	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		34	220	34	220	---	---	---	---
BACH1	571	broad.mit.edu	37	21	30698598	30698598	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr21:30698598G>T	ENST00000399921.1	+	3	696	c.453G>T	c.(451-453)caG>caT	p.Q151H	BACH1_ENST00000286800.3_Missense_Mutation_p.Q151H	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q151H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CACACTGTCAGAAAACAGACC	0.383																																						uc002ynj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(451-453)CAG>CAT		BTB and CNC homology 1 transcription factor							67.0	70.0	69.0					21																	30698598		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30698598G>T	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.453G>T	21.37:g.30698598G>T	ENSP00000382805:p.Gln151His					BACH1_uc002ynk.2_Missense_Mutation_p.Q151H|BACH1_uc002ynl.2_RNA	p.Q151H	NM_001186	NP_001177	O14867	BACH1_HUMAN			3	568	+			151					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.453G>T	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507761	0.44558	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.77620	-0.68;-0.68;-0.98;-0.97;-1.11	5.78	3.03	0.35002	.	0.160073	0.42420	D	0.000717	T	0.56202	0.1969	N	0.24115	0.695	0.29823	N	0.83072	P	0.35844	0.524	B	0.21546	0.035	T	0.55347	-0.8155	10	0.52906	T	0.07	-21.3203	5.9725	0.19361	0.2066:0.0:0.6603:0.1331	.	151	O14867	BACH1_HUMAN	H	151	ENSP00000286800:Q151H;ENSP00000382805:Q151H;ENSP00000400576:Q151H;ENSP00000408605:Q151H;ENSP00000392202:Q151H	ENSP00000286800:Q151H	Q	+	3	2	BACH1	29620469	1.000000	0.71417	0.994000	0.49952	0.669000	0.39330	1.264000	0.33015	0.381000	0.24851	-0.218000	0.12543	CAG		PASS	0.383	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		18	175	18	175	---	---	---	---
AGPAT3	56894	broad.mit.edu	37	21	45387860	45387860	+	Missense_Mutation	SNP	C	C	T	rs200808478		TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr21:45387860C>T	ENST00000398063.2	+	3	704	c.212C>T	c.(211-213)aCg>aTg	p.T71M	AGPAT3_ENST00000546158.1_Missense_Mutation_p.T71M|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T71M|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T71M|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T71M|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T71M	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	71					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T71M(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGGTCCTGCACGGAGTGTACA	0.607																																					Pancreas(60;623 1650 5574 52796)	uc002zdv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)ACG>ATG		1-acylglycerol-3-phosphate O-acyltransferase 3							138.0	99.0	112.0					21																	45387860		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45387860C>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.212C>T	21.37:g.45387860C>T	ENSP00000381140:p.Thr71Met					AGPAT3_uc002zdw.2_Missense_Mutation_p.T71M|AGPAT3_uc002zdx.2_Missense_Mutation_p.T158M|AGPAT3_uc002zdy.2_Missense_Mutation_p.T9M	p.T71M	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	4	434	+			71			Cytoplasmic (Potential).		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.212C>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256904	0.59321	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000422850;ENST00000546158	D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	4.63	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.77103	2.36	0.58432	D	0.999992	D;P	0.89917	1.0;0.954	D;B	0.83275	0.996;0.374	D	0.96353	0.9260	10	0.87932	D	0	-28.1038	13.0497	0.58948	0.0:0.9192:0.0:0.0808	.	91;71	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	M	71	ENSP00000291572:T71M;ENSP00000381138:T71M;ENSP00000332989:T71M;ENSP00000381140:T71M;ENSP00000381135:T71M;ENSP00000413906:T71M;ENSP00000414440:T71M;ENSP00000443510:T71M	ENSP00000291572:T71M	T	+	2	0	AGPAT3	44212288	1.000000	0.71417	0.833000	0.33012	0.589000	0.36550	7.264000	0.78432	2.129000	0.65627	0.591000	0.81541	ACG		PASS	0.607	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		14	77	14	77	---	---	---	---
SEPT5	5413	broad.mit.edu	37	22	19707183	19707183	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr22:19707183C>T	ENST00000455784.2	+	3	238	c.113C>T	c.(112-114)tCg>tTg	p.S38L	SEPT5_ENST00000406395.1_Missense_Mutation_p.S38L|SEPT5_ENST00000383045.3_Missense_Mutation_p.S47L|SEPT5_ENST00000438754.2_Missense_Mutation_p.S47L	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	38					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.S38L(1)		lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CACCGCAAGTCGGTGAAGAAA	0.592																																						uc002zpv.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(112-114)TCG>TTG		septin 5							72.0	63.0	66.0					22																	19707183		2203	4300	6503	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19707183C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.113C>T	22.37:g.19707183C>T	ENSP00000391311:p.Ser38Leu					SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'Flank	p.S38L	NM_002688	NP_002679	Q99719	SEPT5_HUMAN			3	238	+	Colorectal(54;0.0993)		38					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.113C>T	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889857	0.52014	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	3.73	3.73	0.42828	.	0.000000	0.64402	D	0.000003	T	0.55178	0.1904	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	P	0.56648	0.803	T	0.65809	-0.6078	10	0.87932	D	0	.	16.0881	0.81073	0.0:1.0:0.0:0.0	.	38	Q99719	SEPT5_HUMAN	L	38;38;9;76;47;47	ENSP00000391311:S38L;ENSP00000384535:S38L;ENSP00000414488:S76L;ENSP00000372515:S47L;ENSP00000394541:S47L	ENSP00000372515:S47L	S	+	2	0	SEPT5	18087183	1.000000	0.71417	0.155000	0.22561	0.047000	0.14425	7.443000	0.80521	2.099000	0.63709	0.462000	0.41574	TCG		PASS	0.592	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		18	165	18	165	---	---	---	---
IGLV6-57	28778	broad.mit.edu	37	22	22550615	22550615	+	RNA	SNP	T	T	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr22:22550615T>A	ENST00000390285.3	+	0	378									immunoglobulin lambda variable 6-57																		CCTCACCATCTCTGGACTGAA	0.527																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							63.0	68.0	66.0					22																	22550615		2056	4220	6276			96610							g.chr22:22550615T>A	Z73673		22q11.2	2012-02-08			ENSG00000211640	ENSG00000211640		"""Immunoglobulins / IGL locus"""	5927	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150996		22.37:g.22550615T>A														11		+									RNA	SNP	ENST00000390285.3	37	c.1109T>A																																																																																					PASS	0.527	IGLV6-57-001	KNOWN	mRNA_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320861.3	NG_000002		22	115	22	115	---	---	---	---
MGAT3	4248	broad.mit.edu	37	22	39883958	39883958	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr22:39883958G>A	ENST00000341184.6	+	2	821	c.606G>A	c.(604-606)agG>agA	p.R202R		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	202					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.R202R(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGTGCCCAGGGAGGTGCCGC	0.677																																						uc003axv.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)AGG>AGA		mannosyl (beta-1,4-)-glycoprotein							25.0	22.0	23.0					22																	39883958		2197	4296	6493	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883958G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.606G>A	22.37:g.39883958G>A						MGAT3_uc010gxy.2_Silent_p.R202R	p.R202R	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	845	+	Melanoma(58;0.04)		202			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.606G>A	CCDS13994.2																																																																																				PASS	0.677	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		4	30	4	30	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50724256	50724256	+	Silent	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chr22:50724256G>A	ENST00000449103.1	-	11	2201	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.F687F			O15031	PLXB2_HUMAN	plexin B2	687					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.F730F(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTTGCCCTGGAAGTTCACAT	0.657																																						uc003bkv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2059-2061)TTC>TTT		plexin B2 precursor							79.0	82.0	81.0					22																	50724256		1976	4162	6138	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50724256G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2061C>T	22.37:g.50724256G>A							p.F687F	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	2167	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	687			Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2061C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282897	0.23392	.	.	ENSG00000196576	ENST00000434732	.	.	.	4.9	1.28	0.21552	.	.	.	.	.	T	0.54382	0.1855	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	4	.	.	.	.	7.2336	0.26057	0.3241:0.0:0.6759:0.0	.	.	.	.	F	6	.	.	S	-	2	0	PLXNB2	49066383	0.908000	0.30866	0.997000	0.53966	0.904000	0.53231	0.244000	0.18124	0.497000	0.27926	0.561000	0.74099	TCC		PASS	0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		18	187	18	187	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22065257	22065257	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chrX:22065257C>G	ENST00000379374.4	+	3	842	c.277C>G	c.(277-279)Cca>Gca	p.P93A	PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.P93A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	93					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P93A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AAGCAATAATCCAATTCCCGA	0.413																																						uc004dah.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(277-279)CCA>GCA		phosphate-regulating neutral endopeptidase							187.0	156.0	167.0					X																	22065257		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22065257C>G	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.277C>G	X.37:g.22065257C>G	ENSP00000368682:p.Pro93Ala					PHEX_uc011mjr.1_Missense_Mutation_p.P93A|PHEX_uc011mjs.1_Translation_Start_Site	p.P93A	NM_000444	NP_000435	P78562	PHEX_HUMAN			3	480	+			93			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.277C>G	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852007	0.71719	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	T;T	0.75260	-0.92;-0.92	5.5	5.5	0.81552	Peptidase M13 (1);	0.049166	0.85682	D	0.000000	D	0.83496	0.5267	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69824	0.942;0.966	T	0.79801	-0.1650	10	0.19147	T	0.46	-4.6384	18.4483	0.90693	0.0:1.0:0.0:0.0	.	93;93	F5GXU4;P78562	.;PHEX_HUMAN	A	93	ENSP00000368682:P93A;ENSP00000440362:P93A	ENSP00000368682:P93A	P	+	1	0	PHEX	21975178	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.995000	0.57001	2.298000	0.77334	0.594000	0.82650	CCA		PASS	0.413	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		47	108	47	108	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23019068	23019068	+	Silent	SNP	G	G	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chrX:23019068G>T	ENST00000327968.5	+	1	982	c.894G>T	c.(892-894)ggG>ggT	p.G298G	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	298	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.G298G(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATGGGCCTGGGATGCTAGTCC	0.418																																						uc004daj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(892-894)GGG>GGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							78.0	77.0	77.0					X																	23019068		2203	4300	6503	SO:0001819	synonymous_variant	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019068G>T	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.894G>T	X.37:g.23019068G>T							p.G298G	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	982	+			298			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Silent	SNP	ENST00000327968.5	37	c.894G>T	CCDS35214.1																																																																																				PASS	0.418	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		50	73	50	73	---	---	---	---
FOXR2	139628	broad.mit.edu	37	X	55650442	55650442	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chrX:55650442G>A	ENST00000339140.3	+	1	610	c.298G>A	c.(298-300)Gga>Aga	p.G100R		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	100					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G100R(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAGCCCAGTGGAAAAGAGGA	0.542																																						uc004duo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(298-300)GGA>AGA		forkhead box R2							59.0	55.0	56.0					X																	55650442		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|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.chrX:55650442G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.298G>A	X.37:g.55650442G>A	ENSP00000427329:p.Gly100Arg						p.G100R	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	610	+			100						Missense_Mutation	SNP	ENST00000339140.3	37	c.298G>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	5.152	0.213650	0.09757	.	.	ENSG00000189299	ENST00000339140	D	0.93426	-3.22	2.87	-0.839	0.10759	.	4.135730	0.01044	U	0.004346	D	0.84197	0.5419	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.18263	0.021	T	0.75036	-0.3459	10	0.21540	T	0.41	.	5.7625	0.18209	0.4996:0.0:0.5004:0.0	.	100	Q6PJQ5	FOXR2_HUMAN	R	100	ENSP00000427329:G100R	ENSP00000427329:G100R	G	+	1	0	FOXR2	55667167	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.125000	0.10579	-0.292000	0.08999	-0.912000	0.02778	GGA		PASS	0.542	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		29	36	29	36	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64722205	64722205	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chrX:64722205C>A	ENST00000338957.4	+	5	1694	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.H532N	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	543							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.H393N(1)|p.H479N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGGGACCATGGCTACTA	0.478																																						uc010nko.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|kidney(1)|pancreas(1)	3						c.(1594-1596)CAT>AAT		zinc finger CCCH-type containing 12B							55.0	52.0	53.0					X																	64722205		1922	4117	6039	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722205C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1627C>A	X.37:g.64722205C>A	ENSP00000340839:p.His543Asn						p.H532N	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			5	1603	+			532					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1594C>A	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329447	0.41197	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.22945	1.93;1.93	4.95	4.95	0.65309	.	0.100526	0.64402	D	0.000001	T	0.26991	0.0661	L	0.60455	1.87	0.54753	D	0.99998	P	0.38922	0.651	B	0.38378	0.272	T	0.04427	-1.0952	10	0.15952	T	0.53	-42.1289	15.737	0.77853	0.0:1.0:0.0:0.0	.	532	Q5HYM0	ZC12B_HUMAN	N	543;532;479	ENSP00000340839:H543N;ENSP00000408077:H532N	ENSP00000218172:H479N	H	+	1	0	ZC3H12B	64638930	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.445000	0.60007	2.280000	0.76307	0.513000	0.50165	CAT		PASS	0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		42	48	42	48	---	---	---	---
ZFY	7544	broad.mit.edu	37	Y	2829519	2829519	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chrY:2829519A>T	ENST00000155093.3	+	3	787	c.466A>T	c.(466-468)Agt>Tgt	p.S156C	ZFY_ENST00000431102.1_Intron|ZFY_ENST00000383052.1_Missense_Mutation_p.S156C|ZFY_ENST00000449237.1_Missense_Mutation_p.S130C	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S156C(1)		biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GGTGCATGATAGTGTAGTGGA	0.418																																						uc004fqj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)AGT>TGT		zinc finger protein, Y-linked isoform 1							178.0	141.0	150.0					Y																	2829519		631	2033	2664	SO:0001583	missense	7544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrY:2829519A>T	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"""Zinc fingers, C2H2-type"""	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.466A>T	Y.37:g.2829519A>T	ENSP00000155093:p.Ser156Cys					ZFY_uc010nwd.1_Missense_Mutation_p.S156C|ZFY_uc011nan.1_Intron|ZFY_uc010nwe.2_Missense_Mutation_p.S130C	p.S156C	NM_003411	NP_003402	P08048	ZFY_HUMAN			3	787	+			156					B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	c.466A>T	CCDS14774.1																																																																																				PASS	0.418	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411		56	124	56	124	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960025	117960025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chrX:117960025delC	ENST00000310164.2	+	4	1325	c.818delC	c.(817-819)tccfs	p.S273fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	273					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CTCGACGACTCCGATGAGGAT	0.582																																						uc004equ.2																			0				ovary(1)	1						c.(817-819)TCCfs		zinc finger, CCHC domain containing 12							93.0	79.0	84.0					X																	117960025		2203	4300	6503	SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960025delC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.818delC	X.37:g.117960025delC	ENSP00000308921:p.Ser273fs						p.S273fs	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1291	+			273					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Del	DEL	ENST00000310164.2	37	c.818delC	CCDS14574.1																																																																																					0.582	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		78	82	78	82	---	---	---	---
TSPY10	100289087	broad.mit.edu	37	Y	9366667	9366672	+	In_Frame_Del	DEL	GAAGAT	GAAGAT	-			TCGA-21-1077-01A-01D-1521-08	TCGA-21-1077-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a71d74cb-5b10-4787-a654-7049cbb49a92	8ea6d606-b7af-41c5-a84f-0bf9485fcf7c	g.chrY:9366667_9366672delGAAGAT	ENST00000428845.2	+	2	572_577	c.526_531delGAAGAT	c.(526-531)gaagatdel	p.ED178del	TSPY10_ENST00000489397.1_3'UTR|TSPY10_ENST00000429039.1_In_Frame_Del_p.ED91del|FAM197Y2_ENST00000598351.1_RNA|TSPY10_ENST00000444056.1_In_Frame_Del_p.ED178del	NM_001282469.1	NP_001269398.1	P0CW01	TSPYA_HUMAN	testis specific protein, Y-linked 10	184					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GATCACTGACGAAGATGAAGACATGC	0.515																																						uc004fse.2																			0					0						c.(526-531)GAAGATdel		testis specific protein, Y-linked 3																																				SO:0001651	inframe_deletion	728137				cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	g.chrY:9366667_9366672delGAAGAT		CCDS65365.1	Yp11.2	2010-07-28			ENSG00000236424	ENSG00000236424			37473	protein-coding gene	gene with protein product							Standard	NM_001282469		Approved			P0CW01	OTTHUMG00000041524	ENST00000428845.2:c.526_531delGAAGAT	Y.37:g.9366667_9366672delGAAGAT	ENSP00000406407:p.Glu178_Asp179del					TSPY3_uc004fsf.2_In_Frame_Del_p.ED178del	p.ED178del	NM_001077697	NP_001071165	Q01534	TSPY1_HUMAN			2	553_558	+			178_179						In_Frame_Del	DEL	ENST00000428845.2	37	c.526_531delGAAGAT																																																																																						0.515	TSPY10-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000099482.1	XM_002344198		8	5	8	5	---	---	---	---
