#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
MMEL1	79258	broad.mit.edu	37	1	2523025	2523025	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:2523025C>G	ENST00000378412.3	-	23	2372	c.2211G>C	c.(2209-2211)aaG>aaC	p.K737N	MMEL1_ENST00000288709.6_Missense_Mutation_p.K728N|MMEL1_ENST00000502556.1_Missense_Mutation_p.K580N			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	737						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K728N(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGACGTCTGTCTTGATGGATT	0.632																																						uc001ajy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2209-2211)AAG>AAC		membrane metallo-endopeptidase-like 1							156.0	149.0	151.0					1																	2523025		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2523025C>G	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2211G>C	1.37:g.2523025C>G	ENSP00000367668:p.Lys737Asn					MMEL1_uc009vlg.1_RNA	p.K737N	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	23	2425	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	737			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.2211G>C	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493335	0.26774	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90385	-2.66;-2.66;-2.66	3.87	2.0	0.26442	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	L	0.43757	1.38	0.58432	D	0.999999	D	0.54207	0.965	D	0.64877	0.93	D	0.88373	0.2996	10	0.66056	D	0.02	-41.9142	7.0574	0.25107	0.0:0.7838:0.0:0.2162	.	737	Q495T6	MMEL1_HUMAN	N	580;728;737;580	ENSP00000288709:K728N;ENSP00000367668:K737N;ENSP00000422492:K580N	ENSP00000288709:K728N	K	-	3	2	MMEL1	2512885	0.998000	0.40836	0.940000	0.37924	0.068000	0.16541	0.593000	0.23999	0.324000	0.23333	0.561000	0.74099	AAG		PASS	0.632	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		19	66	19	66	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7826535	7826535	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:7826535A>G	ENST00000303635.7	+	23	5213	c.5006A>G	c.(5005-5007)aAa>aGa	p.K1669R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.K1645E|CAMTA1_ENST00000476864.1_Missense_Mutation_p.K223E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1669					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1669R(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGAATTGAAAAAGGCCAAGGA	0.398			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(5005-5007)AAA>AGA		calmodulin-binding transcription activator 1							190.0	155.0	167.0					1																	7826535		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7826535A>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.5006A>G	1.37:g.7826535A>G	ENSP00000306522:p.Lys1669Arg					CAMTA1_uc001aok.3_Missense_Mutation_p.K702E|CAMTA1_uc001aoj.2_Missense_Mutation_p.K622E|CAMTA1_uc009vmf.2_Missense_Mutation_p.K249E	p.K1669R	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	23	5213	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1669					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.5006A>G	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.17|16.17	3.048576|3.048576	0.55110|0.55110	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864|ENST00000303635	T;T|T	0.49720|0.25579	2.12;0.77|1.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.483815|0.483815	0.23030|0.23030	N|N	0.052742|0.052742	T|T	0.37785|0.37785	0.1016|0.1016	N|N	0.22421|0.22421	0.69|0.69	0.39570|0.39570	D|D	0.969261|0.969261	P;P|D	0.43094|0.69078	0.799;0.792|0.997	B;P|D	0.44422|0.73380	0.255;0.449|0.98	T|T	0.37079|0.37079	-0.9721|-0.9721	10|10	0.37606|0.72032	T|D	0.19|0.01	-0.0496|-0.0496	15.4779|15.4779	0.75501|0.75501	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	702;622|1669	B4DXR3;Q7Z7P1|Q9Y6Y1	.;.|CMTA1_HUMAN	E|R	1645;702;622;223|1669	ENSP00000402561:K1645E;ENSP00000452319:K223E|ENSP00000306522:K1669R	ENSP00000306828:K622E|ENSP00000306522:K1669R	K|K	+|+	1|2	0|0	CAMTA1|CAMTA1	7749122|7749122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.737000|8.737000	0.91562|0.91562	2.063000|2.063000	0.61619|0.61619	0.533000|0.533000	0.62120|0.62120	AAG|AAA		PASS	0.398	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		7	30	7	30	---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9661475	9661475	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:9661475A>T	ENST00000340381.6	+	5	928	c.919A>T	c.(919-921)Acc>Tcc	p.T307S	TMEM201_ENST00000377376.4_Missense_Mutation_p.T307S|TMEM201_ENST00000340305.5_Missense_Mutation_p.T307S	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	307					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.T307S(2)		lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCCTACTCACCTGCCTGCT	0.657																																						uc001apz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(919-921)ACC>TCC		transmembrane protein 201 isoform 1							34.0	37.0	36.0					1																	9661475		2202	4297	6499	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9661475A>T		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.919A>T	1.37:g.9661475A>T	ENSP00000344503:p.Thr307Ser					TMEM201_uc001apy.2_Missense_Mutation_p.T307S	p.T307S	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	931	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	307			Helical; (Potential).		B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.919A>T	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.27|16.27	3.074577|3.074577	0.55646|0.55646	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.68|4.68	3.52|3.52	0.40303|0.40303	.|.	.|0.126887	.|0.52532	.|D	.|0.000068	T|T	0.58821|0.58821	0.2149|0.2149	L|L	0.36672|0.36672	1.1|1.1	0.38242|0.38242	D|D	0.941366|0.941366	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.58691|0.58691	-0.7592|-0.7592	5|9	.|0.41790	.|T	.|0.15	-23.8776|-23.8776	9.077|9.077	0.36527|0.36527	0.8146:0.1854:0.0:0.0|0.8146:0.1854:0.0:0.0	.|.	.|307;307	.|E9PBR6;Q5SNT2-2	.|.;.	L|S	216|307	.|.	.|ENSP00000344772:T307S	H|T	+|+	2|1	0|0	TMEM201|TMEM201	9584062|9584062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.562000|3.562000	0.53777|0.53777	0.620000|0.620000	0.30215|0.30215	0.460000|0.460000	0.39030|0.39030	CAC|ACC		PASS	0.657	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		12	31	12	31	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11577558	11577558	+	Silent	SNP	C	C	T	rs376122183		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:11577558C>T	ENST00000294484.6	+	7	1926	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	PTCHD2_ENST00000389575.3_Silent_p.L596L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	596	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.L813L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCATGTCTCTCATCGTGTCCT	0.612																																						uc001ash.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(1786-1788)CTC>CTT		patched domain containing 2		C		0,4110		0,0,2055	119.0	127.0	124.0		1788	3.8	1.0	1		124	1,8377		0,1,4188	no	coding-synonymous	PTCHD2	NM_020780.1		0,1,6243	TT,TC,CC		0.0119,0.0,0.0080		596/1393	11577558	1,12487	2055	4189	6244	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11577558C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1788C>T	1.37:g.11577558C>T						PTCHD2_uc001asi.1_Silent_p.L596L	p.L596L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	7	1926	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	596			Helical; (Potential).|SSD.		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.1788C>T	CCDS41247.1																																																																																				PASS	0.612	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		28	77	28	77	---	---	---	---
MIIP	60672	broad.mit.edu	37	1	12082420	12082420	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:12082420C>T	ENST00000235332.4	+	3	552	c.383C>T	c.(382-384)tCa>tTa	p.S128L	Y_RNA_ENST00000365591.1_RNA|MIIP_ENST00000436478.2_Missense_Mutation_p.S128L|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	128								p.S128L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGAGCCCTCAGGGAGGCTG	0.657																																						uc001ato.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(382-384)TCA>TTA		invasion inhibitory protein 45							26.0	27.0	27.0					1																	12082420		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12082420C>T	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.383C>T	1.37:g.12082420C>T	ENSP00000235332:p.Ser128Leu						p.S128L	NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN			3	563	+			128					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.383C>T	CCDS143.1	.	.	.	.	.	.	.	.	.	.	C	0.692	-0.794185	0.02862	.	.	ENSG00000116691	ENST00000235332;ENST00000436478	T;T	0.18174	2.76;2.23	4.45	0.848	0.18966	.	0.578508	0.14678	N	0.304915	T	0.11196	0.0273	L	0.33093	0.98	0.09310	N	1	B	0.23058	0.079	B	0.24155	0.051	T	0.33727	-0.9857	10	0.24483	T	0.36	-2.5218	6.6051	0.22721	0.0:0.5941:0.0:0.4059	.	128	Q5JXC2	MIIP_HUMAN	L	128	ENSP00000235332:S128L;ENSP00000392417:S128L	ENSP00000235332:S128L	S	+	2	0	MIIP	12005007	0.001000	0.12720	0.000000	0.03702	0.059000	0.15707	0.709000	0.25734	0.044000	0.15775	0.591000	0.81541	TCA		PASS	0.657	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		3	18	3	18	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12304675	12304675	+	Splice_Site	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:12304675G>A	ENST00000358136.3	+	5	577		c.e5+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.?(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAATATTGAAGTAAGTCCTGC	0.428																																						uc001atv.2																			1	Unknown(1)		lung(1)	ovary(4)|pancreas(1)	5						c.e5+1		vacuolar protein sorting 13D isoform 1							118.0	111.0	113.0					1																	12304675		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12304675G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.447+1G>A	1.37:g.12304675G>A						VPS13D_uc001atw.2_Splice_Site_p.E149_splice	p.E149_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	5	588	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)							Splice_Site	SNP	ENST00000358136.3	37	c.447_splice	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543874	0.86022	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6045	0.91262	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12227262	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.040000	0.93783	2.708000	0.92522	0.467000	0.42956	.		PASS	0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	11	34	11	34	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108529	14108529	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:14108529G>A	ENST00000235372.7	+	8	5095	c.4239G>A	c.(4237-4239)tcG>tcA	p.S1413S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1212S|PRDM2_ENST00000413440.1_Silent_p.S1212S|PRDM2_ENST00000311066.5_Silent_p.S1413S|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1413	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S1413S(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCAAAATGTCGTCGAATAAGC	0.393																																						uc001avi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4237-4239)TCG>TCA		retinoblastoma protein-binding zinc finger							69.0	74.0	72.0					1																	14108529		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108529G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4239G>A	1.37:g.14108529G>A						PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.S1413S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.S1212S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S1413S	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5095	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1413			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.4239G>A	CCDS150.1																																																																																				PASS	0.393	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		24	61	24	61	---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16577630	16577630	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:16577630G>C	ENST00000375592.3	-	10	1905	c.1689C>G	c.(1687-1689)atC>atG	p.I563M		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	563								p.I563M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACATCGCTTTGATGGCTTCCA	0.612																																						uc001ayg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1687-1689)ATC>ATG		F-box protein 42							47.0	43.0	44.0					1																	16577630		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577630G>C	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1689C>G	1.37:g.16577630G>C	ENSP00000364742:p.Ile563Met					FBXO42_uc001aye.3_Missense_Mutation_p.I281M|FBXO42_uc001ayf.2_Missense_Mutation_p.I470M	p.I563M	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1905	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	563					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1689C>G	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172492	0.38315	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.52983	3.76;0.64;0.64	5.52	4.6	0.57074	.	0.237591	0.42548	D	0.000698	T	0.28366	0.0701	N	0.08118	0	0.44469	D	0.997401	B	0.22909	0.077	B	0.23018	0.043	T	0.06789	-1.0807	10	0.27785	T	0.31	-10.7194	13.6178	0.62120	0.0746:0.0:0.9254:0.0	.	563	Q6P3S6	FBX42_HUMAN	M	563;281;281	ENSP00000364742:I563M;ENSP00000415663:I281M;ENSP00000412416:I281M	ENSP00000364742:I563M	I	-	3	3	FBXO42	16450217	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.836000	0.55813	1.467000	0.48044	0.655000	0.94253	ATC		PASS	0.612	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			6	57	6	57	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18688620	18688620	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:18688620T>C	ENST00000251296.1	+	5	819	c.436T>C	c.(436-438)Tcc>Ccc	p.S146P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	146						extracellular region (GO:0005576)		p.S146P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TCCTCCCACCTCCATTGAAGT	0.567																																						uc001bau.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(436-438)TCC>CCC		immunoglobin superfamily, member 21 precursor							61.0	54.0	56.0					1																	18688620		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18688620T>C	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.436T>C	1.37:g.18688620T>C	ENSP00000251296:p.Ser146Pro					IGSF21_uc001bav.1_5'UTR	p.S146P	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	5	819	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	146					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.436T>C	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.76|12.76	2.035116|2.035116	0.35893|0.35893	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000412684|ENST00000251296	.|T	.|0.57907	.|0.37	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.221370	.|0.46758	.|D	.|0.000268	T|T	0.44746|0.44746	0.1308|0.1308	L|L	0.46157|0.46157	1.445|1.445	0.45390|0.45390	D|D	0.998375|0.998375	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.33803|0.33803	-0.9854|-0.9854	5|10	.|0.25106	.|T	.|0.35	-12.9527|-12.9527	13.04|13.04	0.58893|0.58893	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|146	.|Q96ID5	.|IGS21_HUMAN	P|P	98|146	.|ENSP00000251296:S146P	.|ENSP00000251296:S146P	L|S	+|+	2|1	0|0	IGSF21|IGSF21	18561207|18561207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.496000|4.496000	0.60360|0.60360	1.841000|1.841000	0.53522|0.53522	0.402000|0.402000	0.26972|0.26972	CTC|TCC		PASS	0.567	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		3	11	3	11	---	---	---	---
RNF186	54546	broad.mit.edu	37	1	20141492	20141492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:20141492C>A	ENST00000375121.2	-	1	279	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	35						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E35*(1)		kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCACATTCTGTGGAGCCA	0.647																																						uc001bcr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(103-105)GAA>TAA		ring finger protein 186							47.0	51.0	50.0					1																	20141492		2203	4300	6503	SO:0001587	stop_gained	54546					integral to membrane	zinc ion binding	g.chr1:20141492C>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.103G>T	1.37:g.20141492C>A	ENSP00000364263:p.Glu35*						p.E35*	NM_019062	NP_061935	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	280	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	35					Q53GE0	Nonsense_Mutation	SNP	ENST00000375121.2	37	c.103G>T	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242534	0.95272	.	.	ENSG00000178828	ENST00000375121	.	.	.	5.84	4.9	0.64082	.	1.029480	0.07769	N	0.951317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.9559	12.6098	0.56544	0.0:0.8334:0.1666:0.0	.	.	.	.	X	35	.	ENSP00000364263:E35X	E	-	1	0	RNF186	20014079	0.157000	0.22836	0.002000	0.10522	0.017000	0.09413	4.231000	0.58639	1.405000	0.46838	0.650000	0.86243	GAA		PASS	0.647	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		20	62	20	62	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22816893	22816893	+	Missense_Mutation	SNP	C	C	G	rs369096143		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:22816893C>G	ENST00000375647.4	+	2	659	c.452C>G	c.(451-453)tCt>tGt	p.S151C	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S151C|ZBTB40_ENST00000404138.1_Missense_Mutation_p.S151C	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	151					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.S151C(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATCCTTTCATCTGAAGGTGCT	0.527																																						uc001bft.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(451-453)TCT>TGT		zinc finger and BTB domain containing 40							122.0	133.0	129.0					1																	22816893		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22816893C>G	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.452C>G	1.37:g.22816893C>G	ENSP00000364798:p.Ser151Cys					ZBTB40_uc001bfu.2_Missense_Mutation_p.S151C|ZBTB40_uc009vqi.1_Missense_Mutation_p.S151C	p.S151C	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	3	963	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	151					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.452C>G	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714567	0.48622	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.09445	2.98;2.98;3.07;3.0	4.83	2.8	0.32819	.	0.478180	0.17988	N	0.155317	T	0.12305	0.0299	L	0.57536	1.79	0.09310	N	1	P;P	0.44816	0.844;0.758	B;B	0.43331	0.416;0.237	T	0.14811	-1.0459	10	0.87932	D	0	-12.9696	4.9572	0.14048	0.1697:0.6499:0.0:0.1803	.	151;151	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	C	151	ENSP00000384527:S151C;ENSP00000364798:S151C;ENSP00000383098:S151C;ENSP00000363782:S151C	ENSP00000363782:S151C	S	+	2	0	ZBTB40	22689480	0.018000	0.18449	0.057000	0.19452	0.018000	0.09664	0.776000	0.26704	1.155000	0.42497	-0.218000	0.12543	TCT		PASS	0.527	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		35	142	35	142	---	---	---	---
SFN	2810	broad.mit.edu	37	1	27190313	27190313	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:27190313G>A	ENST00000339276.4	+	1	681	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.D204N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GGCCATGGCTGATCTGCACAC	0.607																																						uc001bnc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(610-612)GAT>AAT		stratifin							115.0	107.0	110.0					1																	27190313		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190313G>A	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.610G>A	1.37:g.27190313G>A	ENSP00000340989:p.Asp204Asn					uc010ofi.1_RNA	p.D204N	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	681	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	204					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.610G>A	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596508	0.66332	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.45276	0.9	6.02	6.02	0.97574	14-3-3 domain (4);	0.115845	0.64402	D	0.000019	T	0.37571	0.1008	N	0.20986	0.625	0.39269	D	0.964357	B	0.14805	0.011	B	0.24848	0.056	T	0.22591	-1.0212	10	0.87932	D	0	-36.6883	20.1511	0.98086	0.0:0.0:1.0:0.0	.	204	P31947	1433S_HUMAN	N	204;172	ENSP00000340989:D204N	ENSP00000340989:D204N	D	+	1	0	SFN	27062900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.884000	0.87274	2.865000	0.98341	0.655000	0.94253	GAT		PASS	0.607	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		13	66	13	66	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27876980	27876980	+	Silent	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:27876980G>C	ENST00000247087.5	-	5	2243	c.1647C>G	c.(1645-1647)cgC>cgG	p.R549R	AHDC1_ENST00000374011.2_Silent_p.R549R			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	549							DNA binding (GO:0003677)	p.R549R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCTTAGGAGGGCGGCCGCGCT	0.637																																						uc009vsy.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1645-1647)CGC>CGG		AT hook, DNA binding motif, containing 1							27.0	28.0	28.0					1																	27876980		2203	4300	6503	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27876980G>C	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1647C>G	1.37:g.27876980G>C						AHDC1_uc009vsz.1_Silent_p.R549R	p.R549R	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2616	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	549			A.T hook 2.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.1647C>G	CCDS30652.1																																																																																				PASS	0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	24	5	24	---	---	---	---
KIAA0319L	79932	broad.mit.edu	37	1	35909835	35909835	+	Silent	SNP	C	C	A	rs377600647		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:35909835C>A	ENST00000325722.3	-	17	2817	c.2583G>T	c.(2581-2583)gcG>gcT	p.A861A	KIAA0319L_ENST00000373266.4_Silent_p.A298A|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	861						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A861A(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTTGAGCATCGCTGCCACCT	0.463																																						uc001byx.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(2581-2583)GCG>GCT		dyslexia susceptibility 2-like							84.0	81.0	82.0					1																	35909835		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35909835C>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2583G>T	1.37:g.35909835C>A						KIAA0319L_uc001byw.2_Silent_p.A303A|KIAA0319L_uc010ohv.1_Silent_p.A503A	p.A861A	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			17	2841	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	861			Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2583G>T	CCDS390.1																																																																																				PASS	0.463	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		24	38	24	38	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36203671	36203671	+	Nonsense_Mutation	SNP	C	C	A	rs375243377		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:36203671C>A	ENST00000318121.3	-	22	3643	c.3586G>T	c.(3586-3588)Gaa>Taa	p.E1196*	CLSPN_ENST00000520551.1_Nonsense_Mutation_p.E1143*|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.E1132*|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000251195.5_Nonsense_Mutation_p.E1196*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1196					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.E1196*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTTCTTCTTCTTCAGCTGTA	0.338																																						uc001bzi.2																			2	Substitution - Nonsense(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(3586-3588)GAA>TAA		claspin							138.0	126.0	130.0					1																	36203671		2203	4300	6503	SO:0001587	stop_gained	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36203671C>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3586G>T	1.37:g.36203671C>A	ENSP00000312995:p.Glu1196*					CLSPN_uc009vux.2_Nonsense_Mutation_p.E1132*	p.E1196*	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			22	3666	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1196					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	ENST00000318121.3	37	c.3586G>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	43	9.904380	0.99292	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	6.16	6.16	0.99307	.	0.103551	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.3215	16.3585	0.83245	0.1324:0.8676:0.0:0.0	.	.	.	.	X	1196;1196;1132;1143	.	ENSP00000251195:E1196X	E	-	1	0	CLSPN	35976258	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.063000	0.76714	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.338	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		24	38	24	38	---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38227557	38227557	+	Missense_Mutation	SNP	C	C	T	rs575794155|rs267598587	byFrequency	TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:38227557C>T	ENST00000373048.4	-	3	369	c.370G>A	c.(370-372)Gag>Aag	p.E124K	EPHA10_ENST00000319637.6_Missense_Mutation_p.E124K|EPHA10_ENST00000427468.2_Missense_Mutation_p.E124K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	124	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.E124K(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAAGGTCTCCTTGCAGGTA	0.662																																						uc009vvi.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	breast(4)|stomach(3)|lung(1)	8						c.(370-372)GAG>AAG		EPH receptor A10 isofom 3							81.0	86.0	85.0					1																	38227557		2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227557C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.370G>A	1.37:g.38227557C>T	ENSP00000362139:p.Glu124Lys					EPHA10_uc001cbw.3_Missense_Mutation_p.E124K	p.E124K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	456	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	124			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.370G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364467	0.95877	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.15256	2.44;2.44;2.44	4.61	4.61	0.57282	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.42172	D	0.000754	T	0.53384	0.1793	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.996	T	0.67457	-0.5666	10	0.87932	D	0	.	16.9502	0.86243	0.0:1.0:0.0:0.0	.	124;124	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	K	124	ENSP00000397746:E124K;ENSP00000362139:E124K;ENSP00000316395:E124K	ENSP00000316395:E124K	E	-	1	0	EPHA10	38000144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.529000	0.85273	0.549000	0.68633	GAG		PASS	0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		32	145	32	145	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43787098	43787098	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:43787098C>T	ENST00000372476.3	+	21	3259	c.3180C>T	c.(3178-3180)gcC>gcT	p.A1060A	TIE1_ENST00000433781.2_Silent_p.A705A	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1060	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A1060A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGACCTGTGCCGAGCTCTATG	0.592																																						uc001ciu.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(3178-3180)GCC>GCT		tyrosine kinase with immunoglobulin-like and							78.0	67.0	71.0					1																	43787098		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43787098C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3180C>T	1.37:g.43787098C>T						TIE1_uc010oke.1_Silent_p.A1015A|TIE1_uc009vwq.2_Silent_p.A1016A|TIE1_uc010okg.1_Silent_p.A705A	p.A1060A	NM_005424	NP_005415	P35590	TIE1_HUMAN			21	3259	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1060			Cytoplasmic (Potential).|Protein kinase.		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.3180C>T	CCDS482.1																																																																																				PASS	0.592	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		11	28	11	28	---	---	---	---
MPL	4352	broad.mit.edu	37	1	43818205	43818205	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:43818205C>G	ENST00000372470.3	+	12	1712	c.1670C>G	c.(1669-1671)tCa>tGa	p.S557*	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	557					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.S557*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	GCCACAGTCTCAGATACCTGT	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(1669-1671)TCA>TGA		myeloproliferative leukemia virus oncogene							84.0	84.0	84.0					1																	43818205		2203	4300	6503	SO:0001587	stop_gained	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43818205C>G	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1670C>G	1.37:g.43818205C>G	ENSP00000361548:p.Ser557*					MPL_uc009vwr.2_Nonsense_Mutation_p.S550*	p.S557*	NM_005373	NP_005364	P40238	TPOR_HUMAN			12	1715	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	557			Cytoplasmic (Potential).		Q5JUZ0	Nonsense_Mutation	SNP	ENST00000372470.3	37	c.1670C>G	CCDS483.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.190747	0.78789	.	.	ENSG00000117400	ENST00000372470	.	.	.	3.63	2.71	0.32032	.	1.004620	0.08036	U	0.994368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.8598	6.7315	0.23385	0.0:0.8649:0.0:0.1351	.	.	.	.	X	557	.	ENSP00000361548:S557X	S	+	2	0	MPL	43590792	0.987000	0.35691	0.997000	0.53966	0.939000	0.58152	1.384000	0.34396	0.711000	0.32018	0.306000	0.20318	TCA		PASS	0.582	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		10	41	10	41	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43891796	43891796	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:43891796A>G	ENST00000562955.1	+	21	3017	c.3017A>G	c.(3016-3018)cAg>cGg	p.Q1006R	SZT2_ENST00000372442.1_Missense_Mutation_p.Q164R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1056					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.Q164R(2)|p.Q1006R(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGCAGCTCCAGATGTTCTTC	0.512																																						uc001cjk.1																			3	Substitution - Missense(3)		lung(3)		0						c.(490-492)CAG>CGG		hypothetical protein LOC23334							109.0	96.0	100.0					1																	43891796		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43891796A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3017A>G	1.37:g.43891796A>G	ENSP00000457168:p.Gln1006Arg					KIAA0467_uc009vws.1_Missense_Mutation_p.Q1006R	p.Q164R	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			7	953	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.491A>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846957	0.71603	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.42	5.42	0.78866	.	0.065936	0.64402	D	0.000013	T	0.32041	0.0816	N	0.08118	0	0.30817	N	0.738196	B;P	0.47910	0.187;0.902	B;P	0.46543	0.085;0.52	T	0.39440	-0.9614	9	0.72032	D	0.01	.	15.4527	0.75285	1.0:0.0:0.0:0.0	.	1006;1006	Q5T011-4;Q5T011-5	.;.	R	164	.	ENSP00000361519:Q164R	Q	+	2	0	SZT2	43664383	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.999000	0.93557	2.060000	0.61445	0.402000	0.26972	CAG		PASS	0.512	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		15	15	15	15	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46211819	46211819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:46211819G>A	ENST00000396478.3	-	2	367	c.265C>T	c.(265-267)Cag>Tag	p.Q89*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.Q89*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AGAAGTATCTGAAAGATTCCT	0.383																																						uc001cou.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(265-267)CAG>TAG		intracisternal A particle-promoted polypeptide							77.0	76.0	77.0					1																	46211819		2203	4300	6503	SO:0001587	stop_gained	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46211819G>A	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.265C>T	1.37:g.46211819G>A	ENSP00000379739:p.Gln89*					IPP_uc001cos.3_Nonsense_Mutation_p.Q89*	p.Q89*	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			2	532	-	Acute lymphoblastic leukemia(166;0.155)		89			BTB.		A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	ENST00000396478.3	37	c.265C>T	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.744427	0.96882	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.57	5.57	0.84162	.	0.447973	0.25786	N	0.028308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.5508	0.95319	0.0:0.0:1.0:0.0	.	.	.	.	X	89	.	ENSP00000353024:Q89X	Q	-	1	0	IPP	45984406	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	3.705000	0.54823	2.617000	0.88574	0.655000	0.94253	CAG		PASS	0.383	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		8	45	8	45	---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55279497	55279497	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:55279497C>G	ENST00000371273.3	+	7	788	c.773C>G	c.(772-774)cCc>cGc	p.P258R	C1orf177_ENST00000358193.3_Missense_Mutation_p.P258R	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	258								p.P258R(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAAAAAAAGCCCAGGGAACTG	0.413																																						uc001cyb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)CCC>CGC		hypothetical protein LOC163747 isoform 2							56.0	63.0	60.0					1																	55279497		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55279497C>G	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.773C>G	1.37:g.55279497C>G	ENSP00000360320:p.Pro258Arg					C1orf177_uc001cya.3_Missense_Mutation_p.P258R	p.P258R	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			7	827	+			258					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.773C>G	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986249	0.35036	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.23950	1.88;1.88	4.81	3.89	0.44902	.	0.890126	0.09620	N	0.777748	T	0.37128	0.0992	L	0.57536	1.79	0.27924	N	0.93816	P;P	0.52061	0.899;0.95	P;P	0.51355	0.667;0.667	T	0.13953	-1.0490	10	0.41790	T	0.15	-2.4063	10.9829	0.47506	0.0:0.8113:0.1887:0.0	.	258;258	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	R	258	ENSP00000350924:P258R;ENSP00000360320:P258R	ENSP00000350924:P258R	P	+	2	0	C1orf177	55052085	0.178000	0.23122	0.919000	0.36401	0.626000	0.37791	1.445000	0.35079	1.253000	0.44018	0.456000	0.33151	CCC		PASS	0.413	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		6	36	6	36	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038884	75038884	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:75038884C>T	ENST00000326665.5	-	14	2728	c.2510G>A	c.(2509-2511)aGg>aAg	p.R837K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		837	Glu-rich.							p.R837M(1)|p.R837K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCCCCCTTTCTATGCC	0.562																																						uc001dgg.2																			2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2509-2511)AGG>AAG		hypothetical protein LOC127254							98.0	93.0	94.0					1																	75038884		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038884C>T																												ENST00000326665.5:c.2510G>A	1.37:g.75038884C>T	ENSP00000322609:p.Arg837Lys						p.R837K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2729	-			837			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2510G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238068	0.22711	.	.	ENSG00000178965	ENST00000326665	T	0.11495	2.77	5.4	-0.135	0.13477	.	.	.	.	.	T	0.01222	0.0040	N	0.22421	0.69	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.47586	-0.9106	9	0.07325	T	0.83	0.018	1.6636	0.02797	0.2407:0.4355:0.1177:0.2061	.	837	Q5RHP9	CA173_HUMAN	K	837	ENSP00000322609:R837K	ENSP00000322609:R837K	R	-	2	0	C1orf173	74811472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.620000	0.05565	-0.033000	0.13736	0.655000	0.94253	AGG		PASS	0.562	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			25	71	25	71	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179638	90179638	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:90179638G>A	ENST00000370454.4	+	3	1764	c.1509G>A	c.(1507-1509)atG>atA	p.M503I	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	503					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.M503I(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTGATGACATGAGGGAACTCC	0.488																																						uc001dnl.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1507-1509)ATG>ATA		leucine rich repeat containing 8 family, member							76.0	74.0	75.0					1																	90179638		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179638G>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1509G>A	1.37:g.90179638G>A	ENSP00000359483:p.Met503Ile						p.M503I	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1751	+		all_lung(203;0.126)	503			LRR 5.		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.1509G>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986422	0.02180	.	.	ENSG00000171488	ENST00000370454	T	0.18016	2.24	5.69	4.76	0.60689	.	0.167420	0.64402	D	0.000004	T	0.01222	0.0040	N	0.00510	-1.415	0.35734	D	0.818138	B	0.02656	0.0	B	0.01281	0.0	T	0.47749	-0.9093	10	0.06891	T	0.86	.	8.5887	0.33674	0.0:0.284:0.5932:0.1227	.	503	Q8TDW0	LRC8C_HUMAN	I	503	ENSP00000359483:M503I	ENSP00000359483:M503I	M	+	3	0	LRRC8C	89952226	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.145000	0.42207	2.679000	0.91253	0.650000	0.86243	ATG		PASS	0.488	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		16	39	16	39	---	---	---	---
ALG14	199857	broad.mit.edu	37	1	95448643	95448643	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:95448643G>T	ENST00000370205.5	-	4	686	c.640C>A	c.(640-642)Cga>Aga	p.R214R		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	214					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.R214R(1)		endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CAAACAATTCGCCCAAGGTAC	0.393																																						uc001dra.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(640-642)CGA>AGA		asparagine-linked glycosylation 14 homolog							76.0	74.0	75.0					1																	95448643		2203	4300	6503	SO:0001819	synonymous_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95448643G>T		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.640C>A	1.37:g.95448643G>T							p.R214R	NM_144988	NP_659425	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	4	693	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	214			Cytoplasmic (Potential).		A8K030	Silent	SNP	ENST00000370205.5	37	c.640C>A	CCDS752.1																																																																																				PASS	0.393	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		10	54	10	54	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109793561	109793561	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:109793561C>T	ENST00000271332.3	+	1	921	c.860C>T	c.(859-861)cCt>cTt	p.P287L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	287	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P287L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACCATGACCCTGTGTTCGAG	0.602																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(859-861)CCT>CTT		cadherin EGF LAG seven-pass G-type receptor 2							92.0	79.0	84.0					1																	109793561		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793561C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.860C>T	1.37:g.109793561C>T	ENSP00000271332:p.Pro287Leu						p.P287L	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	921	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	287			Cadherin 1.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.860C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	23.7	4.445726	0.84101	.	.	ENSG00000143126	ENST00000271332	D	0.81499	-1.5	4.99	4.99	0.66335	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.93785	0.8013	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95899	0.8913	9	0.87932	D	0	.	18.5303	0.90989	0.0:1.0:0.0:0.0	.	287	Q9HCU4	CELR2_HUMAN	L	287	ENSP00000271332:P287L	ENSP00000271332:P287L	P	+	2	0	CELSR2	109595084	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	7.609000	0.82925	2.626000	0.88956	0.555000	0.69702	CCT		PASS	0.602	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		15	40	15	40	---	---	---	---
AP4B1	10717	broad.mit.edu	37	1	114442820	114442820	+	Missense_Mutation	SNP	G	G	A	rs563341771		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:114442820G>A	ENST00000369569.1	-	5	1100	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	AP4B1_ENST00000369566.3_Missense_Mutation_p.L181F|AP4B1_ENST00000256658.4_Missense_Mutation_p.L274F|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.L106F|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	274					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.L274F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCGCACAAGGACATCAGTT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		20000	0.0		0.001	False		,,,				2504	0.0					uc001eeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(820-822)CTT>TTT		adaptor-related protein complex 4, beta 1							76.0	82.0	80.0					1																	114442820		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442820G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.820C>T	1.37:g.114442820G>A	ENSP00000358582:p.Leu274Phe					uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.L106F|AP4B1_uc001eed.2_Missense_Mutation_p.L274F|AP4B1_uc010owp.1_Missense_Mutation_p.L175F|AP4B1_uc001eea.1_Missense_Mutation_p.L68F|AP4B1_uc010owq.1_Missense_Mutation_p.L181F	p.L274F	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	963	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	274					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.820C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562129	0.45590	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;2.53;1.64;1.64	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.062458	0.64402	D	0.000004	T	0.26702	0.0653	L	0.43923	1.385	0.80722	D	1	B;P;P;P	0.41978	0.083;0.592;0.767;0.592	B;B;P;B	0.49561	0.122;0.326;0.615;0.326	T	0.01553	-1.1326	10	0.48119	T	0.1	.	14.2014	0.65707	0.0747:0.0:0.9253:0.0	.	181;106;274;175	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	F	106;274;274;181;199;106	ENSP00000358580:L106F;ENSP00000358582:L274F;ENSP00000256658:L274F;ENSP00000358579:L181F;ENSP00000358577:L199F;ENSP00000393622:L106F	ENSP00000256658:L274F	L	-	1	0	AP4B1	114244343	1.000000	0.71417	0.986000	0.45419	0.700000	0.40528	5.881000	0.69706	2.520000	0.84964	0.561000	0.74099	CTT		PASS	0.478	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		10	37	10	37	---	---	---	---
CASQ2	845	broad.mit.edu	37	1	116245587	116245587	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:116245587C>G	ENST00000261448.5	-	10	1208	c.969G>C	c.(967-969)aaG>aaC	p.K323N	CASQ2_ENST00000456138.2_Missense_Mutation_p.K252N	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	323					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.K323N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATAGGTCAATCTTGAAAGTCT	0.522																																						uc001efx.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(967-969)AAG>AAC		cardiac calsequestrin 2 precursor							85.0	67.0	73.0					1																	116245587		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116245587C>G	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.969G>C	1.37:g.116245587C>G	ENSP00000261448:p.Lys323Asn					CASQ2_uc010owu.1_Missense_Mutation_p.K252N	p.K323N	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	10	1233	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	323					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.969G>C	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409417	0.11812	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.71934	-0.61;-0.61	5.91	5.91	0.95273	Thioredoxin-like fold (2);	0.089367	0.85682	D	0.000000	T	0.44644	0.1303	L	0.52573	1.65	0.54753	D	0.999984	B;B	0.32543	0.375;0.065	B;B	0.31547	0.132;0.108	T	0.39683	-0.9602	10	0.10377	T	0.69	-29.3664	9.7689	0.40578	0.0:0.7845:0.142:0.0735	.	252;323	B4DIB0;O14958	.;CASQ2_HUMAN	N	323;252;277	ENSP00000261448:K323N;ENSP00000403858:K252N	ENSP00000261448:K323N	K	-	3	2	CASQ2	116047110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.471000	0.35365	2.793000	0.96121	0.655000	0.94253	AAG		PASS	0.522	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		4	9	4	9	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188200	152188200	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:152188200A>T	ENST00000368801.2	-	3	5980	c.5905T>A	c.(5905-5907)Tct>Act	p.S1969T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1969					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1969T(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGAGCCAGACCCATATGGG	0.617																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5905-5907)TCT>ACT		hornerin							339.0	572.0	494.0					1																	152188200		2182	4292	6474	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188200A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5905T>A	1.37:g.152188200A>T	ENSP00000357791:p.Ser1969Thr						p.S1969T	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5981	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1969			22.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5905T>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	6.317	0.426580	0.11987	.	.	ENSG00000197915	ENST00000368801	T	0.02812	4.15	3.11	1.91	0.25777	.	.	.	.	.	T	0.01765	0.0056	L	0.36672	1.1	0.09310	N	1	D	0.67145	0.996	P	0.62740	0.906	T	0.40384	-0.9566	9	0.11485	T	0.65	.	5.885	0.18876	0.5728:0.0:0.0:0.4272	.	1969	Q86YZ3	HORN_HUMAN	T	1969	ENSP00000357791:S1969T	ENSP00000357791:S1969T	S	-	1	0	HRNR	150454824	0.048000	0.20356	0.001000	0.08648	0.005000	0.04900	1.790000	0.38734	0.363000	0.24346	0.454000	0.30748	TCT		PASS	0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		22	555	22	555	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192012	152192012	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:152192012G>C	ENST00000368801.2	-	3	2168	c.2093C>G	c.(2092-2094)tCt>tGt	p.S698C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	698					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S698C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGCCGGAAGACTGGCCTGA	0.567																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2092-2094)TCT>TGT		hornerin							152.0	164.0	160.0					1																	152192012		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192012G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2093C>G	1.37:g.152192012G>C	ENSP00000357791:p.Ser698Cys						p.S698C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2169	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		698			7.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2093C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	4.590	0.109562	0.08780	.	.	ENSG00000197915	ENST00000368801	T	0.22743	1.94	3.26	1.14	0.20703	.	.	.	.	.	T	0.17323	0.0416	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.04840	-1.0923	9	0.66056	D	0.02	.	5.4306	0.16450	0.1191:0.0:0.6852:0.1957	.	698	Q86YZ3	HORN_HUMAN	C	698	ENSP00000357791:S698C	ENSP00000357791:S698C	S	-	2	0	HRNR	150458636	0.006000	0.16342	0.004000	0.12327	0.003000	0.03518	1.575000	0.36493	0.582000	0.29556	0.499000	0.49734	TCT		PASS	0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		28	124	28	124	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328900	152328900	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:152328900G>T	ENST00000388718.5	-	3	1434	c.1362C>A	c.(1360-1362)ggC>ggA	p.G454G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	454	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G454G(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCATGCTGGCCACAAGTTT	0.493																																						uc001ezw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(1360-1362)GGC>GGA		filaggrin family member 2							185.0	178.0	180.0					1																	152328900		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328900G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1362C>A	1.37:g.152328900G>T						uc001ezv.2_Intron	p.G454G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1435	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		454			Filaggrin 2.|Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.1362C>A	CCDS30861.1																																																																																				PASS	0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		24	89	24	89	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155726809	155726809	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:155726809C>G	ENST00000368331.1	-	27	5505	c.5457G>C	c.(5455-5457)aaG>aaC	p.K1819N	GON4L_ENST00000437809.1_Missense_Mutation_p.K1819N|GON4L_ENST00000271883.5_Missense_Mutation_p.K1819N	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1819					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K1819N(2)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTGGGTATCTTGGGAGGCT	0.453																																						uc001flz.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(5455-5457)AAG>AAC		gon-4-like isoform a							112.0	107.0	109.0					1																	155726809		1884	4105	5989	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155726809C>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5457G>C	1.37:g.155726809C>G	ENSP00000357315:p.Lys1819Asn					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.K1819N|GON4L_uc009wrh.1_Missense_Mutation_p.K1819N|GON4L_uc001fma.1_Missense_Mutation_p.K1819N|GON4L_uc001fmb.3_Missense_Mutation_p.K1015N	p.K1819N	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			27	5554	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1819					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.5457G>C		.	.	.	.	.	.	.	.	.	.	C	20.4	3.992612	0.74703	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.14516	2.5;2.5;2.5	5.42	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	L	0.43152	1.355	0.42369	D	0.992442	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.991;0.994;0.997	T	0.01238	-1.1409	10	0.59425	D	0.04	.	10.8874	0.46974	0.0:0.8475:0.0:0.1525	.	1015;1819;1819	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	N	1819	ENSP00000396117:K1819N;ENSP00000357315:K1819N;ENSP00000271883:K1819N	ENSP00000271883:K1819N	K	-	3	2	GON4L	153993433	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.819000	0.39022	1.289000	0.44618	0.585000	0.79938	AAG		PASS	0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		13	40	13	40	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155736446	155736446	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:155736446C>G	ENST00000368331.1	-	21	2866	c.2818G>C	c.(2818-2820)Gag>Cag	p.E940Q	GON4L_ENST00000361040.5_Missense_Mutation_p.E940Q|GON4L_ENST00000437809.1_Missense_Mutation_p.E940Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E940Q|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	940					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E940Q(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTCCTACCTCTCTAGCACCA	0.468																																						uc001flz.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(2818-2820)GAG>CAG		gon-4-like isoform a							119.0	111.0	114.0					1																	155736446		2203	4298	6501	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155736446C>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2818G>C	1.37:g.155736446C>G	ENSP00000357315:p.Glu940Gln					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.E940Q|GON4L_uc009wrh.1_Missense_Mutation_p.E940Q|GON4L_uc001fma.1_Missense_Mutation_p.E940Q|GON4L_uc001fmb.3_Missense_Mutation_p.E136Q|GON4L_uc001fmc.2_Missense_Mutation_p.E940Q|GON4L_uc001fmd.3_Missense_Mutation_p.E940Q|GON4L_uc009wri.2_Missense_Mutation_p.E526Q	p.E940Q	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			21	2915	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		940					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2818G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672810|2.672810	0.47781|0.47781	.|.	.|.	ENSG00000116580|ENSG00000116580	ENST00000539959|ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	.|T;T;T;T	.|0.14391	.|2.67;2.67;2.67;2.51	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.312886	.|0.27193	.|N	.|0.020482	.|T	.|0.11281	.|0.0275	L|L	0.33485|0.33485	1.01|1.01	0.27085|0.27085	N|N	0.962987|0.962987	.|D;P;P;P	.|0.71674	.|0.998;0.927;0.761;0.846	.|P;P;B;P	.|0.56474	.|0.799;0.512;0.432;0.635	.|T	.|0.09271	.|-1.0682	.|10	.|0.27082	.|T	.|0.32	.|.	16.2517|16.2517	0.82490|0.82490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|940;136;940;940	.|Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.|.;.;GON4L_HUMAN;.	.|Q	-1|940	.|ENSP00000396117:E940Q;ENSP00000357315:E940Q;ENSP00000271883:E940Q;ENSP00000354322:E940Q	.|ENSP00000271883:E940Q	.|E	-|-	.|1	.|0	GON4L|GON4L	154003070|154003070	0.027000|0.027000	0.19231|0.19231	0.324000|0.324000	0.25361|0.25361	0.300000|0.300000	0.27592|0.27592	3.056000|3.056000	0.49923|0.49923	2.602000|2.602000	0.87976|0.87976	0.650000|0.650000	0.86243|0.86243	.|GAG		PASS	0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		17	51	17	51	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157737253	157737253	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:157737253C>A	ENST00000361516.3	-	6	978	c.930G>T	c.(928-930)caG>caT	p.Q310H	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.Q310H|FCRL2_ENST00000469986.1_Missense_Mutation_p.Q57H	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	310	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.Q310H(1)|p.Q57H(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACTGCAGCCTGGGCCCCAG	0.542																																						uc001fre.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(928-930)CAG>CAT		Fc receptor-like 2 precursor							48.0	51.0	50.0					1																	157737253		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737253C>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.930G>T	1.37:g.157737253C>A	ENSP00000355157:p.Gln310His					FCRL2_uc001frd.2_Missense_Mutation_p.Q57H|FCRL2_uc010phz.1_Missense_Mutation_p.Q310H|FCRL2_uc009wsp.2_Intron	p.Q310H	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	989	-	all_hematologic(112;0.0378)		310			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.930G>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	9.763	1.170556	0.21621	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.03094	4.05;4.05;4.05	3.99	3.06	0.35304	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.104460	0.07054	N	0.832493	T	0.02929	0.0087	M	0.84511	2.7	0.09310	N	1	B;B;P	0.35700	0.097;0.195;0.516	B;B;B	0.34652	0.159;0.128;0.187	T	0.43114	-0.9411	10	0.39692	T	0.17	.	8.0503	0.30575	0.0:0.8845:0.0:0.1155	.	310;310;57	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	H	310;310;57	ENSP00000355157:Q310H;ENSP00000376100:Q310H;ENSP00000417393:Q57H	ENSP00000355157:Q310H	Q	-	3	2	FCRL2	156003877	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.742000	0.26216	0.974000	0.38366	0.591000	0.81541	CAG		PASS	0.542	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		8	40	8	40	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158226602	158226603	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:158226602_158226603GG>AT	ENST00000289429.5	+	4	1164_1165	c.631_632GG>AT	c.(631-633)GGc>ATc	p.G211I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	211	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.G211V(1)|p.G211S(1)|p.G211I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GCTGTCCCATGGCCCCAGTCCT	0.525																																						uc001frt.2																			3	Substitution - Missense(3)		lung(3)	pancreas(2)|skin(1)	3						c.(631-633)GGC>AGC|c.(631-633)GGC>GTC		CD1A antigen precursor	Antithymocyte globulin(DB00098)																																			SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226602G>A|g.chr1:158226603G>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	Exception_encountered	1.37:g.158226602_158226603delinsAT	ENSP00000289429:p.Gly211Ile						p.G211S|p.G211V	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1164|1165	+	all_hematologic(112;0.0378)		211			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.631G>A|c.632G>T	CCDS1174.1																																																																																				PASS	0.525	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		17	47	17	47	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576474	158576474	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:158576474C>A	ENST00000361284.1	+	1	246	c.246C>A	c.(244-246)ctC>ctA	p.L82L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L82L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTAGAATGCTCTCTGGCCTGG	0.547																																						uc010pio.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(244-246)CTC>CTA		olfactory receptor, family 10, subfamily Z,							202.0	208.0	206.0					1																	158576474		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576474C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.246C>A	1.37:g.158576474C>A							p.L82L	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	246	+	all_hematologic(112;0.0378)		82			Extracellular (Potential).		Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.246C>A	CCDS30901.1																																																																																				PASS	0.547	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		43	166	43	166	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161047464	161047464	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:161047464G>C	ENST00000368012.3	-	3	811	c.509C>G	c.(508-510)tCc>tGc	p.S170C	PVRL4_ENST00000453926.2_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	170	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S170C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTGTGCAGGAGGCTGCCAG	0.647																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(508-510)TCC>TGC		poliovirus receptor-related 4 precursor							33.0	31.0	31.0					1																	161047464		2201	4296	6497	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161047464G>C	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.509C>G	1.37:g.161047464G>C	ENSP00000356991:p.Ser170Cys					PVRL4_uc010pjz.1_5'Flank	p.S170C	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	808	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		170			Ig-like C2-type 1.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.509C>G	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380301	0.82682	.	.	ENSG00000143217	ENST00000368012	T	0.76186	-1.0	5.54	5.54	0.83059	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	T	0.76659	0.4018	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71234	-0.4653	10	0.14656	T	0.56	.	16.9887	0.86347	0.0:0.0:1.0:0.0	.	170	Q96NY8	PVRL4_HUMAN	C	170	ENSP00000356991:S170C	ENSP00000356991:S170C	S	-	2	0	PVRL4	159314088	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.857000	0.62939	2.613000	0.88420	0.650000	0.86243	TCC		PASS	0.647	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		11	24	11	24	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175046886	175046886	+	Missense_Mutation	SNP	G	G	T	rs201940821		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:175046886G>T	ENST00000239462.4	+	2	445	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	111					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R111L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCCTGGCCCGGGTGAAGAAG	0.582																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(331-333)CGG>CTG		tenascin N precursor							53.0	56.0	55.0					1																	175046886		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046886G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.332G>T	1.37:g.175046886G>T	ENSP00000239462:p.Arg111Leu					TNN_uc010pmx.1_Missense_Mutation_p.R111L	p.R111L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	445	+		Breast(1374;0.000962)	111					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.332G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986610	0.93106	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.45276	0.9	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.80183	2.485	0.50632	D	0.99988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72564	-0.4255	10	0.87932	D	0	.	19.0266	0.92934	0.0:0.0:1.0:0.0	.	111;111	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	111	ENSP00000239462:R111L	ENSP00000239462:R111L	R	+	2	0	TNN	173313509	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	6.187000	0.72039	2.600000	0.87896	0.655000	0.94253	CGG		PASS	0.582	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		8	26	8	26	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186880434	186880434	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:186880434C>T	ENST00000367466.3	+	7	623	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	157	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.F157F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGAAGACTTTCAGACAACAGA	0.438																																						uc001gsc.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(1)	3						c.(469-471)TTC>TTT		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						151.0	154.0	153.0					1																	186880434		2203	4300	6503	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186880434C>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.471C>T	1.37:g.186880434C>T						PLA2G4A_uc010pos.1_Intron	p.F157F	NM_024420	NP_077734	P47712	PA24A_HUMAN			7	676	+			157			Phospholipid binding (Probable).|PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.471C>T	CCDS1372.1																																																																																				PASS	0.438	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		19	79	19	79	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196952141	196952141	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:196952141C>A	ENST00000256785.4	+	2	294	c.185C>A	c.(184-186)cCt>cAt	p.P62H	CFHR5_ENST00000367414.5_Missense_Mutation_p.P86H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	62	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.P62H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTGTGTCTCCTTCAAAATCC	0.393																																						uc001gts.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(184-186)CCT>CAT		complement factor H-related 5 precursor							109.0	104.0	106.0					1																	196952141		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952141C>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.185C>A	1.37:g.196952141C>A	ENSP00000256785:p.Pro62His						p.P62H	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			2	313	+			62			Sushi 1.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.185C>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.250757	0.39797	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.48836	0.8;0.8	2.45	1.49	0.22878	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.51517	0.1679	M	0.69463	2.115	0.09310	N	1	P	0.47910	0.902	P	0.50537	0.643	T	0.37361	-0.9709	9	0.44086	T	0.13	.	7.05	0.25067	0.0:0.715:0.285:0.0	.	62	Q9BXR6	FHR5_HUMAN	H	86;62	ENSP00000356384:P86H;ENSP00000256785:P62H	ENSP00000256785:P62H	P	+	2	0	CFHR5	195218764	0.010000	0.17322	0.007000	0.13788	0.354000	0.29330	1.338000	0.33873	0.572000	0.29383	0.305000	0.20034	CCT		PASS	0.393	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		18	59	18	59	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200635670	200635670	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:200635670C>A	ENST00000331314.6	-	2	412	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C	RP11-92G12.3_ENST00000568695.1_lincRNA|DDX59_ENST00000447706.2_Missense_Mutation_p.G67C|DDX59_ENST00000367348.3_Missense_Mutation_p.G67C	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	67						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.G67C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GCCAACTGGCCACCTGGGCTG	0.527																																						uc009wzk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(199-201)GGC>TGC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							143.0	125.0	131.0					1																	200635670		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635670C>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.199G>T	1.37:g.200635670C>A	ENSP00000330460:p.Gly67Cys					DDX59_uc010ppl.1_Missense_Mutation_p.G67C	p.G67C	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	442	-			67					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.199G>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521164	0.27211	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.42900	1.53;1.53;1.9;0.96	5.06	-0.862	0.10673	.	0.892966	0.09805	N	0.753510	T	0.20455	0.0492	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.19516	-1.0303	10	0.34782	T	0.22	-0.3841	0.9082	0.01289	0.2651:0.3681:0.1231:0.2437	.	67;67	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	C	67	ENSP00000394367:G67C;ENSP00000356317:G67C;ENSP00000330460:G67C;ENSP00000391312:G67C	ENSP00000330460:G67C	G	-	1	0	DDX59	198902293	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-0.563000	0.05943	-0.105000	0.12132	0.555000	0.69702	GGC		PASS	0.527	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		12	58	12	58	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207758124	207758124	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:207758124C>A	ENST00000367049.4	+	33	5433	c.5433C>A	c.(5431-5433)aaC>aaA	p.N1811K	CR1_ENST00000367051.1_Missense_Mutation_p.N1361K|CR1_ENST00000400960.2_Missense_Mutation_p.N1361K|CR1_ENST00000367052.1_Missense_Mutation_p.N1361K|CR1_ENST00000367053.1_Missense_Mutation_p.N1361K|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1361	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.N1366K(1)|p.N1811K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGACCTTCAACCTCATTGGGG	0.527																																						uc001hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4081-4083)AAC>AAA		complement receptor 1 isoform F precursor							146.0	145.0	145.0					1																	207758124		1926	4135	6061	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207758124C>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5433C>A	1.37:g.207758124C>A	ENSP00000356016:p.Asn1811Lys					CR1_uc009xcl.1_Missense_Mutation_p.N911K|CR1_uc001hfx.2_Missense_Mutation_p.N1811K	p.N1361K	NM_000573	NP_000564	P17927	CR1_HUMAN			25	4223	+			1361			Extracellular (Potential).|Sushi 21.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4083C>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.084	-1.177802	0.01633	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	3.03	-2.96	0.05547	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.06188	0.0160	N	0.02181	-0.65	0.09310	N	0.999999	P;B;B	0.42483	0.781;0.1;0.184	P;B;B	0.46299	0.511;0.128;0.411	T	0.07888	-1.0749	9	0.06236	T	0.91	.	0.244	0.00196	0.3392:0.2576:0.1673:0.2359	.	1361;1361;1811	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	K	1361;1361;1361;1361;911;1811	ENSP00000356019:N1361K;ENSP00000356018:N1361K;ENSP00000356020:N1361K;ENSP00000383744:N1361K;ENSP00000436139:N911K;ENSP00000356016:N1811K	ENSP00000356016:N1811K	N	+	3	2	CR1	205824747	0.002000	0.14202	0.055000	0.19348	0.928000	0.56348	-0.729000	0.04920	-0.710000	0.05001	-0.181000	0.13052	AAC		PASS	0.527	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	105	4	105	---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209785331	209785331	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:209785331G>A	ENST00000009105.1	+	11	1355	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	CAMK1G_ENST00000361322.2_Silent_p.L370L			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	370						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L370L(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCCCTGCCCTGACCCAATTAC	0.627																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1108-1110)CTG>CTA		calcium/calmodulin-dependent protein kinase IG							87.0	87.0	87.0					1																	209785331		2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209785331G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1110G>A	1.37:g.209785331G>A						CAMK1G_uc001hhf.3_Silent_p.L370L|CAMK1G_uc001hhe.2_Silent_p.L370L	p.L370L	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	11	1212	+			370					Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.1110G>A	CCDS1486.1																																																																																				PASS	0.627	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		12	69	12	69	---	---	---	---
DEGS1	8560	broad.mit.edu	37	1	224377500	224377500	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:224377500G>A	ENST00000323699.4	+	2	470	c.304G>A	c.(304-306)Gca>Aca	p.A102T	DEGS1_ENST00000391877.3_Missense_Mutation_p.A102T|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	102					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.A102T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CAACTGCAAAGCAATGTGGAA	0.433																																						uc001hoj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GCA>ACA		degenerative spermatocyte homolog 1, lipid							133.0	125.0	128.0					1																	224377500		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377500G>A	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.304G>A	1.37:g.224377500G>A	ENSP00000316476:p.Ala102Thr					DEGS1_uc001hoi.2_Missense_Mutation_p.A81T	p.A102T	NM_144780	NP_659004	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	415	+	Breast(184;0.193)		102			Helical; (Potential).			Missense_Mutation	SNP	ENST00000323699.4	37	c.304G>A	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659321	0.29515	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.16743	2.32;2.32;2.32	5.72	0.14	0.14804	Fatty acid desaturase, type 1 (1);	0.091381	0.85682	D	0.000000	T	0.20047	0.0482	M	0.73962	2.25	0.58432	D	0.999995	B;B	0.10296	0.001;0.003	B;B	0.13407	0.008;0.009	T	0.09378	-1.0677	10	0.62326	D	0.03	.	11.2194	0.48846	0.0:0.2068:0.3671:0.4261	.	102;81	O15121;E7EMA0	DEGS1_HUMAN;.	T	81;102;102	ENSP00000400545:A81T;ENSP00000316476:A102T;ENSP00000375749:A102T	ENSP00000316476:A102T	A	+	1	0	DEGS1	222444123	0.978000	0.34361	0.039000	0.18376	0.649000	0.38597	1.142000	0.31540	-0.132000	0.11557	0.549000	0.68633	GCA		PASS	0.433	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			33	98	33	98	---	---	---	---
H3F3A	3020	broad.mit.edu	37	1	226253396	226253396	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:226253396G>T	ENST00000366813.1	+	2	543	c.168G>T	c.(166-168)caG>caT	p.Q56H	H3F3A_ENST00000366815.3_Missense_Mutation_p.Q56H|H3F3A_ENST00000366814.3_Missense_Mutation_p.Q56H|H3F3A_ENST00000366816.1_Missense_Mutation_p.Q56H			P84243	H33_HUMAN	H3 histone, family 3A	56					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.Q56H(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GACGTTATCAGAAGTCCACTG	0.428			Mis		glioma																																	uc001hpw.2				Dom	yes		1	1q42.12	3020		"""H3 histone, family 3A"""			O					1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CAG>CAT		H3 histone, family 3B							48.0	49.0	48.0					1																	226253396		2203	4298	6501	SO:0001583	missense	3020				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr1:226253396G>T	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.168G>T	1.37:g.226253396G>T	ENSP00000355778:p.Gln56His					H3F3A_uc010pvl.1_Missense_Mutation_p.Q56H	p.Q56H	NM_005324	NP_005315	P84243	H33_HUMAN		GBM - Glioblastoma multiforme(131;0.203)	3	283	+	Breast(184;0.179)		56					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.168G>T	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909381	0.33721	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.97	4.05	0.47172	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	.	.	.	0.48762	D	0.999705	D;B	0.67145	0.996;0.078	D;B	0.75484	0.986;0.03	T	0.71140	-0.4679	9	0.87932	D	0	.	11.8009	0.52126	0.1485:0.0:0.8515:0.0	.	56;56	B4DEB1;P84243	.;H33_HUMAN	H	56	ENSP00000355781:Q56H;ENSP00000355780:Q56H;ENSP00000355779:Q56H;ENSP00000355778:Q56H	ENSP00000355778:Q56H	Q	+	3	2	H3F3A	224320019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.031000	0.57267	1.213000	0.43380	0.555000	0.69702	CAG		PASS	0.428	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		12	32	12	32	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229588372	229588372	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:229588372C>A	ENST00000261396.3	-	22	3090	c.2999G>T	c.(2998-3000)cGc>cTc	p.R1000L	NUP133_ENST00000485119.1_5'Flank|NUP133_ENST00000537506.1_Missense_Mutation_p.R984L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1000					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R1000L(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGTAGAAAGCGCTCCTGCTC	0.438																																						uc001htn.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(2998-3000)CGC>CTC		nucleoporin 133kDa							86.0	77.0	80.0					1																	229588372		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229588372C>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2999G>T	1.37:g.229588372C>A	ENSP00000261396:p.Arg1000Leu						p.R1000L	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			22	3091	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1000					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.2999G>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124555	0.77436	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.23552	1.9;1.92;1.9	5.41	4.3	0.51218	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.096026	0.64402	D	0.000002	T	0.25901	0.0631	L	0.60455	1.87	0.53688	D	0.99997	B	0.31705	0.336	B	0.33521	0.165	T	0.03060	-1.1077	10	0.30078	T	0.28	-0.3956	11.5442	0.50683	0.0:0.8456:0.0:0.1544	.	1000	Q8WUM0	NU133_HUMAN	L	929;1000;929;984	ENSP00000261396:R1000L;ENSP00000355640:R929L;ENSP00000443496:R984L	ENSP00000261396:R1000L	R	-	2	0	NUP133	227654995	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.458000	0.53014	2.520000	0.84964	0.563000	0.77884	CGC		PASS	0.438	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		7	26	7	26	---	---	---	---
GPR137B	7107	broad.mit.edu	37	1	236306222	236306222	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:236306222C>G	ENST00000366592.3	+	1	391	c.300C>G	c.(298-300)ttC>ttG	p.F100L	GPR137B_ENST00000366591.4_Missense_Mutation_p.F100L	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	100						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.F100L(2)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCTTCTACTTCAAAGACTTCG	0.572																																						uc001hxq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(298-300)TTC>TTG		G protein-coupled receptor 137B							153.0	150.0	151.0					1																	236306222		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236306222C>G	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.300C>G	1.37:g.236306222C>G	ENSP00000355551:p.Phe100Leu						p.F100L	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	391	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	100			Helical; (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.300C>G	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058668	0.93846	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;T	0.57436	0.44;0.4	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.74899	-0.3507	10	0.54805	T	0.06	-27.7464	18.1047	0.89516	0.0:1.0:0.0:0.0	.	100	O60478	G137B_HUMAN	L	100;100;99	ENSP00000355551:F100L;ENSP00000355550:F100L	ENSP00000355550:F100L	F	+	3	2	GPR137B	234372845	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	5.841000	0.69409	2.264000	0.75181	0.549000	0.68633	TTC		PASS	0.572	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		30	107	30	107	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241031964	241031965	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:241031964_241031965CC>AA	ENST00000407727.1	-	8	530_531	c.531_532GG>TT	c.(529-534)gtGGac>gtTTac	p.D178Y	RGS7_ENST00000348120.2_Missense_Mutation_p.D125Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D178Y|RGS7_ENST00000331110.7_Missense_Mutation_p.D152Y|RGS7_ENST00000366565.1_Missense_Mutation_p.D178Y|RGS7_ENST00000366562.4_Missense_Mutation_p.D178Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D125Y|RGS7_ENST00000446183.2_Missense_Mutation_p.D94Y|RGS7_ENST00000366563.1_Missense_Mutation_p.D178Y			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	178					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D178Y(4)|p.V177V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTCTTCTTGTCCACTCTGTCAA	0.455																																						uc001hyv.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(4)|skin(2)|kidney(1)	7						c.(532-534)GAC>TAC|c.(529-531)GTG>GTT		regulator of G-protein signaling 7																																				SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241031964C>A|g.chr1:241031965C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.531_532delinsAA	1.37:g.241031964_241031965delinsAA	ENSP00000384428:p.Asp178Tyr					RGS7_uc010pyh.1_Missense_Mutation_p.D152Y|RGS7_uc010pyj.1_Missense_Mutation_p.D94Y|RGS7_uc001hyu.2_Missense_Mutation_p.D178Y|RGS7_uc009xgn.1_Missense_Mutation_p.D125Y|RGS7_uc001hyw.2_Missense_Mutation_p.D178Y|RGS7_uc001hyt.2_Missense_Mutation_p.D10Y|RGS7_uc010pyh.1_Silent_p.V151V|RGS7_uc010pyj.1_Silent_p.V93V|RGS7_uc001hyu.2_Silent_p.V177V|RGS7_uc009xgn.1_Silent_p.V124V|RGS7_uc001hyw.2_Silent_p.V177V|RGS7_uc001hyt.2_Silent_p.V9V	p.D178Y|p.V177V	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		9	862|861	-		all_cancers(173;0.0131)	178|177					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation|Silent	SNP	ENST00000407727.1	37	c.532G>T|c.531G>T																																																																																					PASS	0.455	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		20|21	49|50	20	49	---	---	---	---
ZNF496	84838	broad.mit.edu	37	1	247464220	247464220	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:247464220C>T	ENST00000294753.4	-	9	1829	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	ZNF496_ENST00000366498.2_Silent_p.E491E|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	455					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|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.E455E(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CCTCGTGGCTCTCTAGGTGCC	0.672																																						uc001ico.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1363-1365)GAG>GAA		zinc finger protein 496							61.0	65.0	64.0					1																	247464220		2203	4300	6503	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464220C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1365G>A	1.37:g.247464220C>T						ZNF496_uc009xgv.2_Silent_p.E491E|ZNF496_uc001icp.2_Silent_p.E455E	p.E455E	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1830	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		455			C2H2-type 2.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.1365G>A	CCDS1631.1																																																																																				PASS	0.672	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		9	37	9	37	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875527	247875527	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:247875527G>C	ENST00000302084.2	-	1	578	c.531C>G	c.(529-531)ttC>ttG	p.F177L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F177L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGTCACAGAAGAAGTGGTTGA	0.572																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)TTC>TTG		olfactory receptor, family 6, subfamily F,							93.0	96.0	95.0					1																	247875527		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875527G>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.531C>G	1.37:g.247875527G>C	ENSP00000305640:p.Phe177Leu						p.F177L	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	531	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		177			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.531C>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089529	0.55968	.	.	ENSG00000169214	ENST00000302084	T	0.00346	8.01	3.99	-0.274	0.12910	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000316	T	0.00608	0.0020	M	0.83483	2.645	0.33703	D	0.614793	D	0.76494	0.999	D	0.79108	0.992	T	0.56601	-0.7952	10	0.87932	D	0	-53.945	5.6441	0.17580	0.2561:0.1408:0.6031:0.0	.	177	Q8NGZ6	OR6F1_HUMAN	L	177	ENSP00000305640:F177L	ENSP00000305640:F177L	F	-	3	2	OR6F1	245942150	0.269000	0.24143	0.997000	0.53966	0.665000	0.39181	0.096000	0.15147	-0.138000	0.11434	-0.218000	0.12543	TTC		PASS	0.572	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		20	56	20	56	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248084542	248084542	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:248084542A>T	ENST00000319968.4	+	1	223	c.223A>T	c.(223-225)Act>Tct	p.T75S		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T75S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTTTCCACCACTGTGCCCAA	0.582																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)ACT>TCT		olfactory receptor, family 2, subfamily T,							60.0	57.0	58.0					1																	248084542		2198	4296	6494	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084542A>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.223A>T	1.37:g.248084542A>T	ENSP00000326225:p.Thr75Ser						p.T75S	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	223	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	75			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.223A>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	a	10.07	1.248384	0.22880	.	.	ENSG00000177462	ENST00000319968	T	0.00892	5.57	3.81	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.745300	0.10870	U	0.625050	T	0.01558	0.0050	M	0.74546	2.27	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.40365	-0.9567	10	0.51188	T	0.08	.	5.3588	0.16075	0.7227:0.1784:0.0989:0.0	.	75	A6NH00	OR2T8_HUMAN	S	75	ENSP00000326225:T75S	ENSP00000326225:T75S	T	+	1	0	OR2T8	246151165	0.000000	0.05858	0.042000	0.18584	0.421000	0.31385	0.403000	0.20982	0.090000	0.17273	0.491000	0.48974	ACT		PASS	0.582	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		10	39	10	39	---	---	---	---
OR2M4	26245	broad.mit.edu	37	1	248402872	248402872	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:248402872C>A	ENST00000306687.1	+	1	642	c.642C>A	c.(640-642)atC>atA	p.I214I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	214					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I214I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCAGTTATCATACTTTCCT	0.473																																						uc010pzh.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(640-642)ATC>ATA		olfactory receptor, family 2, subfamily M,							113.0	107.0	109.0					1																	248402872		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402872C>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.642C>A	1.37:g.248402872C>A							p.I214I	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	642	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		214			Helical; Name=5; (Potential).		Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.642C>A	CCDS31108.1																																																																																				PASS	0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		17	43	17	43	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512452	248512452	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:248512452C>A	ENST00000317861.1	+	1	376	c.376C>A	c.(376-378)Cag>Aag	p.Q126K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q126K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCTGTCTGCCAGCCACTTCA	0.512																																						uc010pzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(376-378)CAG>AAG		olfactory receptor, family 14, subfamily C,							73.0	65.0	67.0					1																	248512452		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512452C>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.376C>A	1.37:g.248512452C>A	ENSP00000324534:p.Gln126Lys						p.Q126K	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	376	+			126			Cytoplasmic (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.376C>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	0.802	-0.755001	0.03019	.	.	ENSG00000177174	ENST00000317861	T	0.00873	5.59	4.05	0.721	0.18219	GPCR, rhodopsin-like superfamily (1);	0.772345	0.11019	N	0.608550	T	0.00524	0.0017	N	0.02539	-0.55	0.21355	N	0.999712	B	0.13145	0.007	B	0.13407	0.009	T	0.40534	-0.9558	10	0.02654	T	1	.	12.9994	0.58666	0.5611:0.4389:0.0:0.0	.	126	Q8NHC7	O14CZ_HUMAN	K	126	ENSP00000324534:Q126K	ENSP00000324534:Q126K	Q	+	1	0	OR14C36	246579075	0.000000	0.05858	0.992000	0.48379	0.789000	0.44602	-6.918000	0.00049	0.342000	0.23796	0.395000	0.25975	CAG		PASS	0.512	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		10	36	10	36	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248790376	248790376	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr1:248790376A>T	ENST00000330803.2	-	1	115	c.54T>A	c.(52-54)agT>agA	p.S18R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S18R(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCAGCCTCACTGTTCACCA	0.527																																						uc001ier.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(52-54)AGT>AGA		olfactory receptor, family 2, subfamily T,							44.0	53.0	50.0					1																	248790376		2047	4237	6284	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790376A>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.54T>A	1.37:g.248790376A>T	ENSP00000328934:p.Ser18Arg						p.S18R	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	54	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		18			Extracellular (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.54T>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722672	0.30503	.	.	ENSG00000183130	ENST00000330803	T	0.00433	7.43	4.62	-9.25	0.00666	.	1.854100	0.02813	N	0.124621	T	0.00300	0.0009	L	0.38692	1.165	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41734	-0.9492	10	0.66056	D	0.02	.	10.8577	0.46808	0.138:0.4071:0.4549:0.0	.	18	Q8NH01	O2T11_HUMAN	R	18	ENSP00000328934:S18R	ENSP00000328934:S18R	S	-	3	2	OR2T11	246856999	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.012000	0.01451	-1.608000	0.01587	-0.250000	0.11733	AGT		PASS	0.527	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		4	46	4	46	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1168792	1168792	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:1168792T>A	ENST00000308624.5	+	8	643	c.514T>A	c.(514-516)Tcc>Acc	p.S172T	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	172					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S172T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCCAGGGCCATCCAGCGACCA	0.512																																						uc002qwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(514-516)TCC>ACC		syntrophin, gamma 2							125.0	132.0	130.0					2																	1168792		1991	4170	6161	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1168792T>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.514T>A	2.37:g.1168792T>A	ENSP00000311837:p.Ser172Thr					SNTG2_uc010ewi.2_Intron	p.S172T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	8	642	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	172					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.514T>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	T	1.693	-0.503646	0.04261	.	.	ENSG00000172554	ENST00000308624	T	0.54675	0.56	4.73	-2.59	0.06209	.	0.371459	0.31257	N	0.007962	T	0.33059	0.0850	L	0.57536	1.79	0.49389	D	0.999785	B	0.34015	0.435	B	0.30401	0.115	T	0.18272	-1.0342	10	0.13470	T	0.59	.	1.524	0.02521	0.128:0.1535:0.2873:0.4312	.	172	Q9NY99	SNTG2_HUMAN	T	172	ENSP00000311837:S172T	ENSP00000311837:S172T	S	+	1	0	SNTG2	1158792	0.996000	0.38824	0.012000	0.15200	0.013000	0.08279	1.016000	0.29976	-0.834000	0.04239	-1.129000	0.01985	TCC		PASS	0.512	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		5	117	5	117	---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3727473	3727473	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:3727473G>T	ENST00000252505.3	+	5	349	c.187G>T	c.(187-189)Gtc>Ttc	p.V63F		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	82					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.V63F(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGACTGGTGTGTCCTCAGGCT	0.572										HNSCC(21;0.051)																												uc010ewt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(187-189)GTC>TTC		allantoicase isoform a							142.0	151.0	148.0					2																	3727473		2159	4241	6400	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727473G>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.187G>T	2.37:g.3727473G>T	ENSP00000252505:p.Val63Phe	HNSCC(21;0.051)					p.V63F	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	348	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	82					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.187G>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147714	0.37923	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	-0.339	0.12647	Allantoicase domain (1);Galactose-binding domain-like (1);	0.150888	0.56097	D	0.000024	T	0.54334	0.1852	M	0.90309	3.105	0.31119	N	0.709053	P	0.45986	0.87	P	0.46850	0.529	T	0.60229	-0.7304	9	0.87932	D	0	-18.0585	5.4456	0.16533	0.5772:0.15:0.2728:0.0	.	82	Q8N6M5	ALLC_HUMAN	F	63	.	ENSP00000252505:V63F	V	+	1	0	ALLC	3705348	0.129000	0.22400	0.092000	0.20876	0.025000	0.11179	0.475000	0.22164	0.044000	0.15775	-0.136000	0.14681	GTC		PASS	0.572	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			13	64	13	64	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39224462	39224462	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:39224462C>G	ENST00000426016.1	-	19	2982	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	SOS1_ENST00000395038.2_Missense_Mutation_p.E966Q|SOS1_ENST00000402219.2_Missense_Mutation_p.E966Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	966	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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.E966Q(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)				CCTGTTATTTCTGCTACTTTC	0.343									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(2896-2898)GAA>CAA		son of sevenless homolog 1							187.0	179.0	182.0					2																	39224462		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.chr2:39224462C>G	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.2896G>C	2.37:g.39224462C>G	ENSP00000387784:p.Glu966Gln					SOS1_uc002rrj.3_Missense_Mutation_p.E580Q	p.E966Q	NM_005633	NP_005624	Q07889	SOS1_HUMAN			18	2937	-		all_hematologic(82;0.21)	966			Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2896G>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085740	0.94100	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.34072	1.38;1.38;1.38	5.9	5.9	0.94986	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.86178	2.8	0.80722	D	1	D	0.67145	0.996	D	0.64042	0.921	T	0.68957	-0.5272	10	0.72032	D	0.01	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	966	Q07889	SOS1_HUMAN	Q	966;966;698;966;966	ENSP00000387784:E966Q;ENSP00000384675:E966Q;ENSP00000378479:E966Q	ENSP00000263879:E966Q	E	-	1	0	SOS1	39077966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.330000	0.79181	2.786000	0.95864	0.563000	0.77884	GAA		PASS	0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		23	106	23	106	---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44513255	44513255	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:44513255G>T	ENST00000260649.6	+	4	926	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	SLC3A1_ENST00000409741.1_Missense_Mutation_p.D284Y|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D284Y|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D284Y|SLC3A1_ENST00000410056.3_Missense_Mutation_p.D284Y|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D6Y	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	284					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.D284Y(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AGAGCAACCTGATTTAAATTT	0.348																																						uc002ruc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)GAT>TAT		solute carrier family 3, member 1	L-Cystine(DB00138)						124.0	123.0	123.0					2																	44513255		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44513255G>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.850G>T	2.37:g.44513255G>T	ENSP00000260649:p.Asp284Tyr					SLC3A1_uc002rty.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rtz.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rua.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rub.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rud.3_Missense_Mutation_p.D6Y	p.D284Y	NM_000341	NP_000332	Q07837	SLC31_HUMAN			4	928	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	284			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.850G>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529940	0.85706	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62;-5.62;-5.62	5.22	5.22	0.72569	Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.98646	4.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.992;0.995;0.981;0.989;0.989	D	0.97149	0.9830	10	0.87932	D	0	-26.732	18.779	0.91924	0.0:0.0:1.0:0.0	.	284;284;284;284;284	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	Y	284;284;220;284;284;284;284;6;62	ENSP00000260649:D284Y;ENSP00000387308:D284Y;ENSP00000387337:D284Y;ENSP00000386954:D284Y;ENSP00000386620:D284Y;ENSP00000386709:D6Y;ENSP00000391642:D62Y	ENSP00000260649:D284Y	D	+	1	0	SLC3A1	44366759	1.000000	0.71417	0.962000	0.40283	0.968000	0.65278	9.269000	0.95684	2.419000	0.82065	0.591000	0.81541	GAT		PASS	0.348	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		19	66	19	66	---	---	---	---
ADD2	119	broad.mit.edu	37	2	70933427	70933427	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:70933427C>A	ENST00000264436.4	-	3	558	c.114G>T	c.(112-114)gcG>gcT	p.A38A	ADD2_ENST00000407644.2_Silent_p.A38A|ADD2_ENST00000413157.2_Silent_p.A38A|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000355733.3_Silent_p.A38A|ADD2_ENST00000430656.1_Silent_p.A54A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	38					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.A38A(2)|p.A54A(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCAGGTCCGCCGCCCGGTTGC	0.687																																						uc002sgz.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|pancreas(1)	3						c.(112-114)GCG>GCT		adducin 2 isoform a							51.0	52.0	52.0					2																	70933427		2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70933427C>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.114G>T	2.37:g.70933427C>A						ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.A38A|ADD2_uc002sha.2_Silent_p.A38A|ADD2_uc002sgx.2_Silent_p.A38A|ADD2_uc010fdt.1_Silent_p.A38A|ADD2_uc002shc.1_Silent_p.A38A|ADD2_uc002shd.1_Silent_p.A38A|ADD2_uc010fdu.1_Silent_p.A54A	p.A38A	NM_001617	NP_001608	P35612	ADDB_HUMAN			3	579	-			38					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.114G>T	CCDS1906.1																																																																																				PASS	0.687	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		24	44	24	44	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79384760	79384760	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:79384760C>A	ENST00000409839.3	-	5	434	c.398G>T	c.(397-399)tGg>tTg	p.W133L	REG3A_ENST00000305165.2_Missense_Mutation_p.W133L|REG3A_ENST00000393878.1_Missense_Mutation_p.W133L|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	133	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.W133L(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATTTCTCTCCCATGCAAAGTA	0.542																																						uc002sod.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(397-399)TGG>TTG		pancreatitis-associated protein precursor							143.0	134.0	137.0					2																	79384760		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384760C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.398G>T	2.37:g.79384760C>A	ENSP00000386630:p.Trp133Leu					REG3A_uc002soe.1_Missense_Mutation_p.W133L|REG3A_uc002sof.1_Missense_Mutation_p.W133L	p.W133L	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	653	-			133			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.398G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365487	0.41902	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.22743	1.94;1.94;1.94	3.87	3.87	0.44632	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.48286	D	0.000182	T	0.48114	0.1482	M	0.85710	2.77	0.39068	D	0.960653	D	0.89917	1.0	D	0.91635	0.999	T	0.57057	-0.7876	10	0.87932	D	0	.	11.5972	0.50981	0.0:1.0:0.0:0.0	.	133	Q06141	REG3A_HUMAN	L	133	ENSP00000386630:W133L;ENSP00000377456:W133L;ENSP00000304311:W133L	ENSP00000304311:W133L	W	-	2	0	REG3A	79238268	1.000000	0.71417	0.993000	0.49108	0.053000	0.15095	2.985000	0.49362	2.451000	0.82905	0.491000	0.48974	TGG		PASS	0.542	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		10	47	10	47	---	---	---	---
IGKV1-12	28940	broad.mit.edu	37	2	89339943	89339943	+	RNA	SNP	G	G	T	rs374869985		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:89339943G>T	ENST00000480492.1	-	0	175									immunoglobulin kappa variable 1-12																		CCCGACAAGTGATGGTGACTC	0.498																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.		G		0,3912		0,0,1956	157.0	121.0	133.0			2.3	0.0	2		133	1,8285		0,1,4142	no	intergenic				0,1,6098	TT,TG,GG		0.0121,0.0,0.0082			89339943	1,12197	1956	4143	6099			0							g.chr2:89339943G>T	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89339943G>T						uc002stl.2_Intron								64		-									RNA	SNP	ENST00000480492.1	37	c.5916C>A																																																																																					PASS	0.498	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		15	66	15	66	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130877988	130877988	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:130877988C>A	ENST00000409914.2	-	3	500	c.101G>T	c.(100-102)tGc>tTc	p.C34F	POTEF_ENST00000357462.5_Missense_Mutation_p.C34F|POTEF_ENST00000361163.4_Missense_Mutation_p.C34F|POTEF_ENST00000360967.5_Missense_Mutation_p.C34F	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	34					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.C34F(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCCTGCAGCAGGGGAAGCA	0.577																																						uc010fmh.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(100-102)TGC>TTC		prostate, ovary, testis expressed protein on							171.0	169.0	170.0					2																	130877988		2201	4298	6499	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877988C>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.101G>T	2.37:g.130877988C>A	ENSP00000386786:p.Cys34Phe						p.C34F	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	501	-			34					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.101G>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	7.217	0.596502	0.13875	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76316	-1.01;-1.01;1.66;1.63	.	.	.	.	.	.	.	.	T	0.63850	0.2546	L	0.27053	0.805	0.09310	N	1	P	0.39520	0.676	B	0.39738	0.308	T	0.55667	-0.8105	7	0.72032	D	0.01	.	.	.	.	.	34	A5A3E0	POTEF_HUMAN	F	34	ENSP00000350052:C34F;ENSP00000386786:C34F;ENSP00000354232:C34F;ENSP00000355012:C34F	ENSP00000350052:C34F	C	-	2	0	POTEF	130594458	0.002000	0.14202	0.023000	0.16930	0.024000	0.10985	0.508000	0.22692	0.162000	0.19483	0.165000	0.16767	TGC		PASS	0.577	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		45	78	45	78	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021760	132021760	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:132021760A>G	ENST00000356920.5	+	15	2826	c.2732A>G	c.(2731-2733)gAc>gGc	p.D911G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	911	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D911G(1)									ATCGTGCGTGACATCAAAGAG	0.592																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2731-2733)GAC>GGC		protein expressed in prostate, ovary, testis,							60.0	63.0	62.0					2																	132021760		1951	3905	5856	SO:0001583	missense	445582						ATP binding	g.chr2:132021760A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2732A>G	2.37:g.132021760A>G	ENSP00000439189:p.Asp911Gly					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.D511G|POTEE_uc002tsl.2_Missense_Mutation_p.D493G|POTEE_uc010fmy.1_Missense_Mutation_p.D375G	p.D911G	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2784	+			911			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2732A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.881028	0.51801	.	.	ENSG00000188219	ENST00000356920	D	0.94723	-3.5	.	.	.	.	.	.	.	.	D	0.97151	0.9069	H	0.95224	3.64	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.94470	0.7684	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	911	Q6S8J3	POTEE_HUMAN	G	911	ENSP00000439189:D911G	ENSP00000439189:D911G	D	+	2	0	AC131180.1	131738230	1.000000	0.71417	0.247000	0.24249	0.249000	0.25844	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	GAC		PASS	0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		19	98	19	98	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164466745	164466745	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:164466745T>A	ENST00000333129.3	-	3	1911	c.1597A>T	c.(1597-1599)Aca>Tca	p.T533S	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	533					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.T533S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCCAATAATGTTTTGCCTGTC	0.507																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1597-1599)ACA>TCA		fidgetin							63.0	61.0	61.0					2																	164466745		1942	4141	6083	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466745T>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1597A>T	2.37:g.164466745T>A	ENSP00000333836:p.Thr533Ser						p.T533S	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1908	-			533			ATP (By similarity).		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1597A>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423953	0.43020	.	.	ENSG00000182263	ENST00000333129	D	0.97906	-4.6	5.66	5.66	0.87406	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.050308	0.85682	D	0.000000	D	0.97760	0.9265	M	0.61387	1.9	0.80722	D	1	B	0.22146	0.065	B	0.43123	0.409	D	0.97096	0.9794	10	0.87932	D	0	-14.6485	15.8965	0.79338	0.0:0.0:0.0:1.0	.	533	Q5HY92	FIGN_HUMAN	S	533	ENSP00000333836:T533S	ENSP00000333836:T533S	T	-	1	0	FIGN	164174991	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.875000	0.63072	2.163000	0.67991	0.460000	0.39030	ACA		PASS	0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		10	25	10	25	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166188042	166188042	+	Silent	SNP	G	G	A	rs369101059		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:166188042G>A	ENST00000375437.2	+	14	2642	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	SCN2A_ENST00000283256.6_Silent_p.T784T|SCN2A_ENST00000357398.3_Silent_p.T784T|SCN2A_ENST00000375427.2_Silent_p.T784T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	784					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T784T(3)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCCCATGACGGAGCAGTTCA	0.433																																						uc002udc.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(6)|breast(1)|pancreas(1)	8						c.(2350-2352)ACG>ACA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						114.0	97.0	103.0					2																	166188042		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166188042G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2352G>A	2.37:g.166188042G>A						SCN2A_uc002udd.2_Silent_p.T784T|SCN2A_uc002ude.2_Silent_p.T784T	p.T784T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			14	2642	+			784			II.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.2352G>A	CCDS33314.1																																																																																				PASS	0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		9	57	9	57	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166188044	166188044	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:166188044A>C	ENST00000375437.2	+	14	2644	c.2354A>C	c.(2353-2355)gAg>gCg	p.E785A	SCN2A_ENST00000283256.6_Missense_Mutation_p.E785A|SCN2A_ENST00000357398.3_Missense_Mutation_p.E785A|SCN2A_ENST00000375427.2_Missense_Mutation_p.E785A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	785					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E785A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCATGACGGAGCAGTTCAGC	0.433																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(2353-2355)GAG>GCG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						112.0	96.0	102.0					2																	166188044		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166188044A>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2354A>C	2.37:g.166188044A>C	ENSP00000364586:p.Glu785Ala					SCN2A_uc002udd.2_Missense_Mutation_p.E785A|SCN2A_uc002ude.2_Missense_Mutation_p.E785A	p.E785A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			14	2644	+			785			II.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2354A>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574220	0.28092	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	D	0.94905	0.8353	L	0.53671	1.685	0.09310	N	0.999997	B;B	0.14438	0.01;0.007	B;B	0.17098	0.016;0.017	D	0.88074	0.2802	10	0.40728	T	0.16	.	11.2522	0.49032	0.7189:0.281:0.0:0.0	.	785;785	Q99250-2;Q99250	.;SCN2A_HUMAN	A	785	ENSP00000364586:E785A;ENSP00000349973:E785A;ENSP00000283256:E785A;ENSP00000364576:E785A	ENSP00000283256:E785A	E	+	2	0	SCN2A	165896290	0.289000	0.24334	0.998000	0.56505	0.997000	0.91878	1.585000	0.36600	2.114000	0.64651	0.477000	0.44152	GAG		PASS	0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		9	55	9	55	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167141191	167141191	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:167141191C>G	ENST00000409435.1	-	11	1745	c.1746G>C	c.(1744-1746)gaG>gaC	p.E582D	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.E583D|SCN9A_ENST00000375387.4_Missense_Mutation_p.E583D|SCN9A_ENST00000409672.1_Missense_Mutation_p.E582D			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	582					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.E582D(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTTCTGCTCTCATTGTCTC	0.512																																						uc010fpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1744-1746)GAG>GAC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						106.0	111.0	109.0					2																	167141191		2100	4245	6345	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141191C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1746G>C	2.37:g.167141191C>G	ENSP00000386330:p.Glu582Asp					uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.E453D|SCN9A_uc002uds.1_Missense_Mutation_p.E453D|SCN9A_uc002udt.1_Missense_Mutation_p.E453D	p.E582D	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			12	2087	-			582					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1746G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214902	0.58452	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	5.64	2.72	0.32119	Domain of unknown function DUF3451 (1);	0.181460	0.38778	N	0.001580	D	0.85327	0.5671	L	0.35542	1.07	0.27030	N	0.964251	B;B;B	0.21147	0.024;0.052;0.01	B;B;B	0.24974	0.057;0.057;0.038	T	0.75838	-0.3176	10	0.45353	T	0.12	.	6.2601	0.20895	0.0:0.5184:0.1317:0.3499	.	582;582;583	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	D	582;583;583;582;447;447	ENSP00000386306:E582D;ENSP00000364536:E583D;ENSP00000304748:E583D;ENSP00000386330:E582D;ENSP00000413212:E447D;ENSP00000393141:E447D	ENSP00000304748:E583D	E	-	3	2	SCN9A	166849437	0.211000	0.23529	1.000000	0.80357	0.989000	0.77384	-0.457000	0.06745	0.782000	0.33613	0.557000	0.71058	GAG		PASS	0.512	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		16	46	16	46	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105274	168105274	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:168105274A>C	ENST00000409195.1	+	9	7461	c.7372A>C	c.(7372-7374)Act>Cct	p.T2458P	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2458P|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2236P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2283					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T2458P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGTAAAATTACTACCTCAAA	0.388																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7372-7374)ACT>CCT		xin actin-binding repeat containing 2 isoform 1							80.0	80.0	80.0					2																	168105274		1880	4121	6001	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105274A>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7372A>C	2.37:g.168105274A>C	ENSP00000386840:p.Thr2458Pro					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2283P|XIRP2_uc010fpq.2_Missense_Mutation_p.T2236P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.T2458P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7390	+			2283					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7372A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677100	0.29783	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03004	4.08;4.08;4.08	5.85	3.43	0.39272	.	0.431995	0.23991	N	0.042579	T	0.11879	0.0289	M	0.69823	2.125	0.09310	N	0.999996	D;D;B	0.61080	0.981;0.989;0.102	P;P;B	0.61201	0.77;0.885;0.043	T	0.05886	-1.0858	10	0.51188	T	0.08	-3.0413	7.722	0.28738	0.786:0.1406:0.0734:0.0	.	2283;2283;2236	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	P	2458;2458;2236	ENSP00000386840:T2458P;ENSP00000295237:T2458P;ENSP00000387255:T2236P	ENSP00000295237:T2458P	T	+	1	0	XIRP2	167813520	0.003000	0.15002	0.013000	0.15412	0.154000	0.21943	2.022000	0.41030	0.450000	0.26774	0.523000	0.50628	ACT		PASS	0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		14	50	14	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414381	179414381	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:179414381A>T	ENST00000591111.1	-	288	87369	c.87145T>A	c.(87145-87147)Tac>Aac	p.Y29049N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y28122N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y21625N|TTN_ENST00000359218.5_Missense_Mutation_p.Y21750N|TTN_ENST00000589042.1_Missense_Mutation_p.Y30690N|TTN_ENST00000342175.6_Missense_Mutation_p.Y21817N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29049	Fibronectin type-III 111. {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.Y21625N(1)|p.Y21817N(1)|p.Y28122N(1)|p.Y28120N(1)|p.Y21750N(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)			CGGAATTGGTATTCATTGCCG	0.403																																						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.(84364-84366)TAC>AAC		titin isoform N2-A							127.0	123.0	124.0					2																	179414381		1890	4115	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414381A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87145T>A	2.37:g.179414381A>T	ENSP00000465570:p.Tyr29049Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y21817N|TTN_uc010zfi.1_Missense_Mutation_p.Y21750N|TTN_uc010zfj.1_Missense_Mutation_p.Y21625N	p.Y28122N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	84588	-			29049					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.84364T>A		.	.	.	.	.	.	.	.	.	.	A	20.9	4.059819	0.76074	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.48	5.48	0.80851	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97303	0.9118	H	0.99626	4.665	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	D	0.99267	1.0892	9	0.87932	D	0	.	15.8687	0.79091	1.0:0.0:0.0:0.0	.	21625;21750;21817;29049	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28122;21625;21817;21750;21622	ENSP00000343764:Y28122N;ENSP00000434586:Y21625N;ENSP00000340554:Y21817N;ENSP00000352154:Y21750N	ENSP00000340554:Y21817N	Y	-	1	0	TTN	179122627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.200000	0.70718	0.460000	0.39030	TAC		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	46	11	46	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179590301	179590301	+	Missense_Mutation	SNP	A	A	G	rs142794598	byFrequency	TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:179590301A>G	ENST00000591111.1	-	69	19903	c.19679T>C	c.(19678-19680)aTa>aCa	p.I6560T	RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5633T|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I6877T|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12163	Ig-like 47.				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.I5633T(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)			GGCGCCTTCTATGGATGCTTG	0.428													A|||	10	0.00199681	0.0076	0.0	5008	,	,		20784	0.0		0.0	False		,,,				2504	0.0					uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16897-16899)ATA>ACA		titin isoform N2-A		A	THR/ILE,,,	9,3679		0,9,1835	97.0	89.0	92.0		16898,,,	5.9	1.0	2	dbSNP_134	92	0,8208		0,0,4104	yes	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	89,,,	0,9,5939	GG,GA,AA		0.0,0.244,0.0757	possibly-damaging,,,	5633/33424,,,	179590301	9,11887	1844	4104	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590301A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19679T>C	2.37:g.179590301A>G	ENSP00000465570:p.Ile6560Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I2294T	p.I5633T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17122	-			6560					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.16898T>C		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	13.90	2.376331	0.42105	0.00244	0.0	ENSG00000155657	ENST00000342992	T	0.70164	-0.46	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63861	0.2547	M	0.83223	2.63	0.80722	D	1	P	0.36354	0.549	B	0.34536	0.185	T	0.73610	-0.3928	9	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	6560	Q8WZ42	TITIN_HUMAN	T	5633	ENSP00000343764:I5633T	ENSP00000343764:I5633T	I	-	2	0	TTN	179298546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.854000	0.92228	2.367000	0.80283	0.528000	0.53228	ATA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	39	13	39	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179613430	179613430	+	Intron	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:179613430G>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A4566D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATGTTCAGCTCTTTTAGA	0.338																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13696-13698)GCT>GAT		titin isoform novex-3							109.0	114.0	112.0					2																	179613430		2203	4296	6499	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613430G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4420C>A	2.37:g.179613430G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.A4566D	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13921	-			699					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.13697C>A		.	.	.	.	.	.	.	.	.	.	G	11.25	1.582662	0.28180	.	.	ENSG00000155657	ENST00000360870	T	0.59906	0.23	5.56	0.598	0.17512	.	.	.	.	.	T	0.46073	0.1374	N	0.24115	0.695	0.09310	N	0.999999	B	0.30973	0.302	B	0.36186	0.219	T	0.42447	-0.9451	9	0.56958	D	0.05	.	11.9548	0.52974	0.4228:0.0:0.5772:0.0	.	4566	Q8WZ42-6	.	D	4566	ENSP00000354117:A4566D	ENSP00000354117:A4566D	A	-	2	0	TTN	179321675	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	0.125000	0.15749	-0.159000	0.11021	-1.119000	0.02030	GCT		PASS	0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	85	23	85	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182766615	182766615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:182766615G>T	ENST00000431877.2	+	8	1014	c.835G>T	c.(835-837)Gag>Tag	p.E279*	SSFA2_ENST00000428267.2_Nonsense_Mutation_p.E126*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.E279*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.E279*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	279						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E279*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CTCTAACAAGGAGACAGACCC	0.423																																						uc002uoi.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(835-837)GAG>TAG		sperm specific antigen 2 isoform 1							73.0	73.0	73.0					2																	182766615		2203	4300	6503	SO:0001587	stop_gained	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182766615G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.835G>T	2.37:g.182766615G>T	ENSP00000388731:p.Glu279*					SSFA2_uc002uoh.2_Nonsense_Mutation_p.E279*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.E279*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.E126*|SSFA2_uc002uol.2_Nonsense_Mutation_p.E126*	p.E279*	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1157	+			279					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	c.835G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	37	6.001736	0.97189	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	.	.	.	5.42	5.42	0.78866	.	0.527249	0.21858	N	0.068074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.8412	19.597	0.95544	0.0:0.0:1.0:0.0	.	.	.	.	X	279;279;279;126	.	ENSP00000314669:E279X	E	+	1	0	SSFA2	182474860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	2.716000	0.92895	0.650000	0.86243	GAG		PASS	0.423	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		10	28	10	28	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198949409	198949409	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:198949409G>C	ENST00000428675.1	+	2	1566	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D292H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	390					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D292H(1)|p.D390H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGACATTTTTGATCCTGAGCA	0.393																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1168-1170)GAT>CAT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						104.0	98.0	100.0					2																	198949409		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949409G>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1168G>C	2.37:g.198949409G>C	ENSP00000402861:p.Asp390His					PLCL1_uc002uuv.3_Missense_Mutation_p.D311H	p.D390H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1459	+			390					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1168G>C	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354227	0.61293	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.19532	2.14;2.14	5.77	5.77	0.91146	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	M	0.86178	2.8	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.55309	-0.8161	9	.	.	.	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	390;316	Q15111;B4DYZ4	PLCL1_HUMAN;.	H	390;292	ENSP00000402861:D390H;ENSP00000414138:D292H	.	D	+	1	0	PLCL1	198657654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.993000	0.88291	2.744000	0.94065	0.561000	0.74099	GAT		PASS	0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		22	79	22	79	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201523958	201523958	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:201523958C>T	ENST00000374700.2	+	28	3483	c.3242C>T	c.(3241-3243)cCt>cTt	p.P1081L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1081					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.P1081L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAAACTGTCCCTAATGCAAAT	0.448																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3241-3243)CCT>CTT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						157.0	143.0	148.0					2																	201523958		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201523958C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3242C>T	2.37:g.201523958C>T	ENSP00000363832:p.Pro1081Leu					AOX1_uc010zhf.1_Missense_Mutation_p.P637L|AOX1_uc010fsu.2_Missense_Mutation_p.P447L	p.P1081L	NM_001159	NP_001150	Q06278	ADO_HUMAN			28	3343	+			1081					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3242C>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704350	0.68615	.	.	ENSG00000138356	ENST00000374700	T	0.53206	0.63	4.97	4.97	0.65823	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	H	0.98155	4.16	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	D	0.88418	0.3026	10	0.87932	D	0	-32.238	18.4111	0.90550	0.0:1.0:0.0:0.0	.	1081	Q06278	ADO_HUMAN	L	1081	ENSP00000363832:P1081L	ENSP00000363832:P1081L	P	+	2	0	AOX1	201232203	1.000000	0.71417	0.439000	0.26833	0.328000	0.28507	6.626000	0.74253	2.575000	0.86900	0.561000	0.74099	CCT		PASS	0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		5	47	5	47	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207146627	207146627	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:207146627G>T	ENST00000374423.3	+	3	440	c.54G>T	c.(52-54)ctG>ctT	p.L18L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	18							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L18L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAATAACCTGGAACAGGTGA	0.318																																						uc002vbp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(52-54)CTG>CTT		zinc finger, DBF-type containing 2							87.0	84.0	85.0					2																	207146627		1810	4073	5883	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207146627G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.54G>T	2.37:g.207146627G>T							p.L18L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			3	304	+			18			DBF4-type.		Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.54G>T	CCDS46501.1																																																																																				PASS	0.318	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		10	18	10	18	---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217329374	217329374	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:217329374A>G	ENST00000357276.4	+	13	2455	c.2125A>G	c.(2125-2127)Aaa>Gaa	p.K709E	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.K709E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	709					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.K709E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCTGAAGCTAAAATCCCATC	0.383									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(2125-2127)AAA>GAA		SWI/SNF-related matrix-associated							158.0	155.0	156.0					2																	217329374		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217329374A>G	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2125A>G	2.37:g.217329374A>G	ENSP00000349823:p.Lys709Glu					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.K709E|SMARCAL1_uc010fvg.2_Missense_Mutation_p.K687E	p.K709E	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	13	2455	+		Renal(323;0.0458)	709					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2125A>G	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285387	0.80803	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.96396	-4.0;-4.0;-1.91	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.90870	3.155	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	D	0.99482	1.0948	10	0.87932	D	0	-20.0951	14.2171	0.65800	1.0:0.0:0.0:0.0	.	709	Q9NZC9	SMAL1_HUMAN	E	709;709;551	ENSP00000349823:K709E;ENSP00000350940:K709E;ENSP00000375974:K551E	ENSP00000349823:K709E	K	+	1	0	SMARCAL1	217037619	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.060000	0.76692	2.232000	0.73038	0.528000	0.53228	AAA		PASS	0.383	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			4	102	4	102	---	---	---	---
USP37	57695	broad.mit.edu	37	2	219346935	219346935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:219346935G>A	ENST00000258399.3	-	17	2105	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	USP37_ENST00000454775.1_Nonsense_Mutation_p.R565*|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Nonsense_Mutation_p.R493*|USP37_ENST00000418019.1_Nonsense_Mutation_p.R565*	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	565	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.R565*(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AAGCTATATCGTTTCAAATGG	0.378																																						uc002vie.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|prostate(1)	5						c.(1693-1695)CGA>TGA		ubiquitin specific peptidase 37							127.0	117.0	121.0					2																	219346935		2203	4300	6503	SO:0001587	stop_gained	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219346935G>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1693C>T	2.37:g.219346935G>A	ENSP00000258399:p.Arg565*					USP37_uc010fvs.1_Nonsense_Mutation_p.R565*|USP37_uc010zkf.1_Nonsense_Mutation_p.R565*|USP37_uc002vif.2_Nonsense_Mutation_p.R565*|USP37_uc002vig.2_Nonsense_Mutation_p.R493*	p.R565*	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	17	2146	-		Renal(207;0.0915)	565					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Nonsense_Mutation	SNP	ENST00000258399.3	37	c.1693C>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	43	10.128601	0.99343	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7656	19.8211	0.96595	0.0:0.0:1.0:0.0	.	.	.	.	X	565;565;493;565	.	ENSP00000258399:R565X	R	-	1	2	USP37	219055179	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.524000	0.67105	2.687000	0.91594	0.655000	0.94253	CGA		PASS	0.378	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		21	69	21	69	---	---	---	---
GLB1L	79411	broad.mit.edu	37	2	220103844	220103844	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:220103844C>T	ENST00000295759.7	-	11	1345	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	GLB1L_ENST00000392089.2_Silent_p.K344K|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Silent_p.K254K|GLB1L_ENST00000356283.3_Silent_p.K254K			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	344					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.K344K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCAAAAAGCTTAGGTGTGG	0.458																																						uc002vkm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1030-1032)AAG>AAA		galactosidase, beta 1-like precursor							114.0	112.0	112.0					2																	220103844		2203	4300	6503	SO:0001819	synonymous_variant	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220103844C>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1032G>A	2.37:g.220103844C>T						GLB1L_uc002vkk.2_Silent_p.K101K|GLB1L_uc010zkx.1_Silent_p.K254K|GLB1L_uc002vkn.2_Silent_p.K344K	p.K344K	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1271	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	344					Q96DR0	Silent	SNP	ENST00000295759.7	37	c.1032G>A	CCDS2437.1																																																																																				PASS	0.458	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		11	42	11	42	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220346038	220346038	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:220346038C>T	ENST00000312358.7	+	27	5514	c.5382C>T	c.(5380-5382)atC>atT	p.I1794I	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1794	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I1794I(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGACAGGAATCTCCCCGTTTG	0.582																																						uc010fwg.2																			1	Substitution - coding silent(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(5380-5382)ATC>ATT		SPEG complex locus							93.0	96.0	95.0					2																	220346038		2007	4162	6169	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220346038C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5382C>T	2.37:g.220346038C>T							p.I1794I	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	27	5382	+		Renal(207;0.0183)	1794			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5382C>T	CCDS42824.1																																																																																				PASS	0.582	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		11	42	11	42	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227662074	227662074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:227662074C>A	ENST00000305123.5	-	1	2401	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	461					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E461*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTGCTTAGCTCCTCCTCACCG	0.622											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3																			1	Substitution - Nonsense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(1381-1383)GAG>TAG		insulin receptor substrate 1							79.0	92.0	87.0					2																	227662074		2203	4300	6503	SO:0001587	stop_gained	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662074C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1381G>T	2.37:g.227662074C>A	ENSP00000304895:p.Glu461*		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.E461*	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1433	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	461						Nonsense_Mutation	SNP	ENST00000305123.5	37	c.1381G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	48	13.950944	0.99772	.	.	ENSG00000169047	ENST00000305123	.	.	.	5.38	5.38	0.77491	.	0.066969	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-16.6369	19.1332	0.93415	0.0:1.0:0.0:0.0	.	.	.	.	X	461	.	ENSP00000304895:E461X	E	-	1	0	IRS1	227370318	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.461000	0.45040	2.516000	0.84829	0.561000	0.74099	GAG		PASS	0.622	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		30	109	30	109	---	---	---	---
TM4SF20	79853	broad.mit.edu	37	2	228243943	228243943	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:228243943G>A	ENST00000304568.3	-	1	79	c.42C>T	c.(40-42)agC>agT	p.S14S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S14S(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GAACCAGCAGGCTGAATCCAT	0.473																																						uc002vpb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(40-42)AGC>AGT		transmembrane 4 L six family member 20							122.0	120.0	120.0					2																	228243943		2203	4300	6503	SO:0001819	synonymous_variant	79853					integral to membrane|plasma membrane		g.chr2:228243943G>A	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.42C>T	2.37:g.228243943G>A							p.S14S	NM_024795	NP_079071	Q53R12	T4S20_HUMAN		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	1	80	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	14			Cytoplasmic (Potential).		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	ENST00000304568.3	37	c.42C>T	CCDS2466.1																																																																																				PASS	0.473	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		15	46	15	46	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882946	228882946	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:228882946G>T	ENST00000392056.3	-	7	2670	c.2624C>A	c.(2623-2625)gCt>gAt	p.A875D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	875						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A875D(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)		ACTCTCCTCAGCCTCCTGGGA	0.507																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2623-2625)GCT>GAT		sphingosine kinase type 1-interacting protein							504.0	485.0	491.0					2																	228882946		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882946G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2624C>A	2.37:g.228882946G>T	ENSP00000375909:p.Ala875Asp					SPHKAP_uc002vpp.2_Missense_Mutation_p.A875D|SPHKAP_uc010zlx.1_Missense_Mutation_p.A875D	p.A875D	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	2671	-		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)	875					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2624C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	4.911	0.169322	0.09339	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12361	2.69;2.69	5.91	0.762	0.18454	.	0.872320	0.10307	N	0.690431	T	0.11707	0.0285	L	0.54323	1.7	0.09310	N	1	B;P	0.43352	0.335;0.804	B;B	0.41723	0.08;0.365	T	0.21484	-1.0244	10	0.19147	T	0.46	0.2528	2.6393	0.04966	0.1281:0.2277:0.4097:0.2346	.	875;875	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	875	ENSP00000375909:A875D;ENSP00000339886:A875D	ENSP00000339886:A875D	A	-	2	0	SPHKAP	228591190	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	1.011000	0.29911	0.105000	0.17753	-0.175000	0.13238	GCT		PASS	0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		153	631	153	631	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884531	228884531	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:228884531A>T	ENST00000392056.3	-	7	1085	c.1039T>A	c.(1039-1041)Tcc>Acc	p.S347T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S347T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	347						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S347T(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)		TCCATCATGGAGAAATAAGCA	0.433																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(1039-1041)TCC>ACC		sphingosine kinase type 1-interacting protein							140.0	133.0	135.0					2																	228884531		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884531A>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1039T>A	2.37:g.228884531A>T	ENSP00000375909:p.Ser347Thr					SPHKAP_uc002vpp.2_Missense_Mutation_p.S347T|SPHKAP_uc010zlx.1_Missense_Mutation_p.S347T	p.S347T	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	1086	-		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)	347					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1039T>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	2.980	-0.210622	0.06140	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.78	-3.12	0.05282	.	1.477610	0.03572	N	0.228681	T	0.13157	0.0319	M	0.62723	1.935	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.38866	-0.9641	10	0.52906	T	0.07	.	0.2423	0.00194	0.2145:0.2177:0.2462:0.3216	.	347;347	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	347	ENSP00000375909:S347T;ENSP00000339886:S347T	ENSP00000339886:S347T	S	-	1	0	SPHKAP	228592775	0.803000	0.28956	0.532000	0.27989	0.065000	0.16274	0.286000	0.18902	-0.399000	0.07668	-0.280000	0.10049	TCC		PASS	0.433	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		31	97	31	97	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230659957	230659957	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:230659957G>C	ENST00000283943.5	-	25	3859	c.3681C>G	c.(3679-3681)agC>agG	p.S1227R	TRIP12_ENST00000389044.4_Missense_Mutation_p.S1275R|TRIP12_ENST00000389045.3_Missense_Mutation_p.S957R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1227					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.S1227R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTTCCATCTGGCTGAGGCAGT	0.468																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3679-3681)AGC>AGG		thyroid hormone receptor interactor 12							120.0	105.0	110.0					2																	230659957		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230659957G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3681C>G	2.37:g.230659957G>C	ENSP00000283943:p.Ser1227Arg					TRIP12_uc002vpx.1_Missense_Mutation_p.S1275R|TRIP12_uc002vpy.1_Missense_Mutation_p.S957R	p.S1227R	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	25	3790	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1227					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3681C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185993	0.78789	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.52295	0.67;1.02;0.67	5.75	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	M	0.61703	1.905	0.80722	D	1	D;D;D	0.61697	0.99;0.985;0.99	D;P;D	0.69142	0.962;0.71;0.962	T	0.62544	-0.6832	10	0.87932	D	0	.	3.7858	0.08700	0.3321:0.0:0.6679:0.0	.	957;1275;1227	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	1227;957;1275	ENSP00000283943:S1227R;ENSP00000373697:S957R;ENSP00000373696:S1275R	ENSP00000283943:S1227R	S	-	3	2	TRIP12	230368201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.120000	0.57897	2.716000	0.92895	0.655000	0.94253	AGC		PASS	0.468	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		15	51	15	51	---	---	---	---
COPS7B	64708	broad.mit.edu	37	2	232660884	232660884	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:232660884C>G	ENST00000350033.3	+	5	537	c.396C>G	c.(394-396)atC>atG	p.I132M	COPS7B_ENST00000410024.1_Missense_Mutation_p.I132M|COPS7B_ENST00000373608.3_Missense_Mutation_p.I132M|COPS7B_ENST00000410017.1_Missense_Mutation_p.I132M|COPS7B_ENST00000409295.1_Missense_Mutation_p.I98M|COPS7B_ENST00000409091.1_Missense_Mutation_p.I25M	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	132	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I132M(1)		large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AAGACCTTATCATTGAGGCTG	0.488																																						uc002vsg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)|skin(1)	3						c.(394-396)ATC>ATG		COP9 constitutive photomorphogenic homolog							87.0	80.0	82.0					2																	232660884		2203	4300	6503	SO:0001583	missense	64708				cullin deneddylation	cytoplasm|signalosome		g.chr2:232660884C>G	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B"", ""COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"""			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.396C>G	2.37:g.232660884C>G	ENSP00000272995:p.Ile132Met					COPS7B_uc010fxy.1_Missense_Mutation_p.I98M|COPS7B_uc002vsh.1_Missense_Mutation_p.I132M|COPS7B_uc002vsi.1_Missense_Mutation_p.I25M|COPS7B_uc002vsj.1_RNA|COPS7B_uc002vsk.1_Missense_Mutation_p.I25M	p.I132M	NM_022730	NP_073567	Q9H9Q2	CSN7B_HUMAN		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	5	499	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	132			PCI.		Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	c.396C>G	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164049	0.57476	.	.	ENSG00000144524	ENST00000410024;ENST00000409295;ENST00000409091;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608;ENST00000537799	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.57	4.67	0.58626	Proteasome component (PCI) domain (2);	0.062472	0.64402	D	0.000004	T	0.64659	0.2618	M	0.91249	3.19	0.51767	D	0.999934	D;D;D	0.76494	0.997;0.999;0.97	D;D;P	0.77557	0.969;0.99;0.845	T	0.70622	-0.4821	10	0.87932	D	0	-10.5909	9.5661	0.39400	0.1433:0.7776:0.0:0.0791	.	132;132;132	Q53GQ2;Q9H9Q2-3;Q9H9Q2	.;.;CSN7B_HUMAN	M	132;98;25;132;77;132;132;25	ENSP00000386567:I132M;ENSP00000386438:I98M;ENSP00000386527:I25M;ENSP00000272995:I132M;ENSP00000412548:I77M;ENSP00000386880:I132M;ENSP00000362710:I132M	ENSP00000272995:I132M	I	+	3	3	COPS7B	232369128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.878000	0.39608	1.300000	0.44818	0.655000	0.94253	ATC		PASS	0.488	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		9	29	9	29	---	---	---	---
PRR21	643905	broad.mit.edu	37	2	240982175	240982175	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:240982175G>T	ENST00000408934.1	-	1	224	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	75	Pro-rich.							p.P75P(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAAGGGACATGGGTGAAGAGC	0.607																																						uc010zod.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(223-225)CCC>CCA		proline rich 21							143.0	135.0	138.0					2																	240982175		2194	4292	6486	SO:0001819	synonymous_variant	643905							g.chr2:240982175G>T	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.225C>A	2.37:g.240982175G>T							p.P75P	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	225	-			75			Pro-rich.			Silent	SNP	ENST00000408934.1	37	c.225C>A	CCDS33417.1																																																																																				PASS	0.607	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		7	19	7	19	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241702689	241702689	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:241702689G>C	ENST00000320389.7	-	20	1974	c.1816C>G	c.(1816-1818)Cgc>Ggc	p.R606G	KIF1A_ENST00000498729.2_Missense_Mutation_p.R615G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	606					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R606G(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAAGGCGTGCGCTCACGCTCC	0.632																																						uc002vzy.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1816-1818)CGC>GGC		axonal transport of synaptic vesicles							23.0	26.0	25.0					2																	241702689		2123	4252	6375	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702689G>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1816C>G	2.37:g.241702689G>C	ENSP00000322791:p.Arg606Gly					KIF1A_uc010fzk.2_Missense_Mutation_p.R615G|KIF1A_uc002vzz.1_Missense_Mutation_p.R615G	p.R606G	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	20	1962	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	606					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1816C>G	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138373	0.21123	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73047	-0.71;-0.71;-0.71	3.93	3.93	0.45458	.	0.120297	0.53938	U	0.000055	T	0.61874	0.2382	L	0.39147	1.195	0.58432	D	0.999996	B;B;P	0.37352	0.036;0.132;0.591	B;B;B	0.33121	0.143;0.158;0.119	T	0.69034	-0.5252	10	0.62326	D	0.03	.	16.3222	0.82954	0.0:0.0:1.0:0.0	.	615;615;606	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	G	606;615;615;615	ENSP00000322791:R606G;ENSP00000438388:R615G;ENSP00000384231:R615G	ENSP00000322791:R606G	R	-	1	0	KIF1A	241351362	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	3.973000	0.56845	1.915000	0.55452	0.467000	0.42956	CGC		PASS	0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		3	6	3	6	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242741313	242741313	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr2:242741313C>A	ENST00000192314.6	+	3	368	c.237C>A	c.(235-237)aaC>aaA	p.N79K	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	79					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.N79K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		AGACCCACAACCTGTCCGTGG	0.667																																						uc002wcj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)AAC>AAA		galactose-3-O-sulfotransferase 2							63.0	56.0	58.0					2																	242741313		2203	4300	6503	SO:0001583	missense	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242741313C>A	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.237C>A	2.37:g.242741313C>A	ENSP00000192314:p.Asn79Lys						p.N79K	NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	3	368	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	79			Lumenal (Potential).		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	c.237C>A	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248536	0.39797	.	.	ENSG00000154252	ENST00000192314	T	0.14893	2.47	3.8	1.92	0.25849	.	0.168374	0.41823	D	0.000812	T	0.31295	0.0792	M	0.77313	2.365	0.36521	D	0.870134	D	0.60575	0.988	P	0.61940	0.896	T	0.21109	-1.0255	10	0.41790	T	0.15	-44.0682	4.0249	0.09683	0.1632:0.587:0.1583:0.0914	.	79	Q9H3Q3	G3ST2_HUMAN	K	79	ENSP00000192314:N79K	ENSP00000192314:N79K	N	+	3	2	GAL3ST2	242389986	0.881000	0.30235	0.989000	0.46669	0.071000	0.16799	0.402000	0.20965	0.367000	0.24454	0.306000	0.20318	AAC		PASS	0.667	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		7	51	7	51	---	---	---	---
IRAK2	3656	broad.mit.edu	37	3	10268100	10268100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:10268100C>T	ENST00000256458.4	+	10	1345	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	419	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.R419*(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGATAACAACCGAAGCCCGGT	0.542																																						uc003bve.1																			1	Substitution - Nonsense(1)		lung(1)	lung(5)|breast(3)	8						c.(1255-1257)CGA>TGA		interleukin-1 receptor-associated kinase 2							112.0	93.0	99.0					3																	10268100		2202	4297	6499	SO:0001587	stop_gained	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10268100C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1255C>T	3.37:g.10268100C>T	ENSP00000256458:p.Arg419*						p.R419*	NM_001570	NP_001561	O43187	IRAK2_HUMAN			10	1331	+			419			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Nonsense_Mutation	SNP	ENST00000256458.4	37	c.1255C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491883	0.84962	.	.	ENSG00000134070	ENST00000256458	.	.	.	4.75	3.78	0.43462	.	0.000000	0.44097	D	0.000496	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0413	8.5736	0.33585	0.2938:0.7062:0.0:0.0	.	.	.	.	X	419	.	ENSP00000256458:R419X	R	+	1	2	IRAK2	10243100	0.792000	0.28813	0.702000	0.30337	0.222000	0.24845	1.973000	0.40550	2.185000	0.69588	0.561000	0.74099	CGA		PASS	0.542	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			5	11	5	11	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10413681	10413681	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:10413681C>A	ENST00000352432.4	-	11	1540	c.1471G>T	c.(1471-1473)Ggc>Tgc	p.G491C	ATP2B2_ENST00000360273.2_Missense_Mutation_p.G491C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G477C|ATP2B2_ENST00000397077.1_Missense_Mutation_p.G446C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G446C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	491					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.G491C(1)|p.G446C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTGGCATTGCCCATGGTCTCA	0.557																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1471-1473)GGC>TGC		plasma membrane calcium ATPase 2 isoform 1							181.0	156.0	164.0					3																	10413681		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413681C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1471G>T	3.37:g.10413681C>A	ENSP00000324172:p.Gly491Cys					ATP2B2_uc003bvv.2_Missense_Mutation_p.G446C|ATP2B2_uc003bvw.2_Missense_Mutation_p.G446C|ATP2B2_uc010hdo.2_Missense_Mutation_p.G196C	p.G491C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			12	1910	-			491			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1471G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629326	0.87560	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	4.71	4.71	0.59529	ATPase, P-type, cytoplasmic domain N (1);	0.049342	0.85682	D	0.000000	D	0.98940	0.9640	H	0.99609	4.655	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.996	D;D;D	0.81914	0.94;0.995;0.963	D	0.99097	1.0842	10	0.87932	D	0	-34.1795	17.8685	0.88803	0.0:1.0:0.0:0.0	.	426;458;491	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	491;446;446;491;477;426;347;491	ENSP00000324172:G491C;ENSP00000373311:G446C;ENSP00000380267:G446C;ENSP00000353414:G491C;ENSP00000344677:G477C;ENSP00000414854:G347C	ENSP00000342954:G491C	G	-	1	0	ATP2B2	10388681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.568000	0.82369	2.443000	0.82685	0.655000	0.94253	GGC		PASS	0.557	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		17	26	17	26	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51308303	51308303	+	Missense_Mutation	SNP	G	G	A	rs374645432		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:51308303G>A	ENST00000266037.9	+	24	2436	c.2413G>A	c.(2413-2415)Gtg>Atg	p.V805M		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	805					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V805L(2)|p.V805M(1)|p.V794M(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATGTTCACCGTGCAAGAGGT	0.522																																						uc011bds.1																			4	Substitution - Missense(4)	p.V805L(2)	lung(4)		0						c.(2413-2415)GTG>ATG		dedicator of cytokinesis 3		G	MET/VAL	0,4186		0,0,2093	94.0	94.0	94.0		2413	5.2	1.0	3		94	1,8447		0,1,4223	no	missense	DOCK3	NM_004947.4	21	0,1,6316	AA,AG,GG		0.0118,0.0,0.0079	benign	805/2031	51308303	1,12633	2093	4224	6317	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51308303G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2413G>A	3.37:g.51308303G>A	ENSP00000266037:p.Val805Met						p.V805M	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	24	2436	+			805					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.2413G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578368	0.86645	0.0	1.18E-4	ENSG00000088538	ENST00000266037	T	0.69175	-0.38	5.24	5.24	0.73138	.	0.116181	0.64402	D	0.000018	T	0.70745	0.3259	L	0.45137	1.4	0.80722	D	1	D	0.60160	0.987	P	0.52514	0.701	T	0.71331	-0.4625	10	0.46703	T	0.11	.	19.1704	0.93575	0.0:0.0:1.0:0.0	.	805	Q8IZD9	DOCK3_HUMAN	M	805	ENSP00000266037:V805M	ENSP00000266037:V805M	V	+	1	0	DOCK3	51283343	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.809000	0.86057	2.608000	0.88229	0.585000	0.79938	GTG		PASS	0.522	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		3	38	3	38	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51452138	51452138	+	Silent	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:51452138A>G	ENST00000335891.5	-	11	2439	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1259					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.N1263N(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGATGTTCATATTGAACTTGT	0.418																																						uc003dbe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(3775-3777)AAT>AAC		HIV-1 Vpr binding protein							154.0	146.0	149.0					3																	51452138		1949	4137	6086	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51452138A>G	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2430T>C	3.37:g.51452138A>G						VPRBP_uc003dbf.1_Silent_p.N535N	p.N1259N	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	18	3945	-			1259			WD 5.		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.3777T>C																																																																																					PASS	0.418	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		16	40	16	40	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93603660	93603660	+	Silent	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:93603660T>C	ENST00000394236.3	-	12	1720	c.1404A>G	c.(1402-1404)caA>caG	p.Q468Q	PROS1_ENST00000407433.1_Silent_p.Q337Q	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	468	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.Q468Q(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTTGTTTTTCTTGAATAATTT	0.353																																						uc003drb.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1402-1404)CAA>CAG		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						98.0	91.0	93.0					3																	93603660		2203	4298	6501	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93603660T>C		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1404A>G	3.37:g.93603660T>C						PROS1_uc010hoo.2_Silent_p.Q337Q|PROS1_uc003dqz.3_Silent_p.Q337Q	p.Q468Q	NM_000313	NP_000304	P07225	PROS_HUMAN			12	1745	-			468			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.1404A>G	CCDS2923.1																																																																																				PASS	0.353	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		12	49	12	49	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101375038	101375038	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:101375038G>A	ENST00000312938.4	-	7	2681	c.2101C>T	c.(2101-2103)Cat>Tat	p.H701Y		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	701					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.H701Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTGATTGATGAAGACTCTGA	0.363																																						uc003dve.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2101-2103)CAT>TAT		zinc finger protein ZNF-U69274							88.0	84.0	85.0					3																	101375038		2203	4299	6502	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101375038G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2101C>T	3.37:g.101375038G>A	ENSP00000326200:p.His701Tyr						p.H701Y	NM_014415	NP_055230	O95625	ZBT11_HUMAN			7	2331	-			701			C2H2-type 4.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2101C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652227	0.67472	.	.	ENSG00000066422	ENST00000312938	D	0.88896	-2.44	6.05	6.05	0.98169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96431	0.9319	10	0.87932	D	0	-16.5555	20.6013	0.99457	0.0:0.0:1.0:0.0	.	701	O95625	ZBT11_HUMAN	Y	701	ENSP00000326200:H701Y	ENSP00000326200:H701Y	H	-	1	0	ZBTB11	102857728	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	9.116000	0.94341	2.878000	0.98634	0.650000	0.86243	CAT		PASS	0.363	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		12	42	12	42	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108107918	108107918	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:108107918G>T	ENST00000273353.3	-	39	5550	c.5494C>A	c.(5494-5496)Cgt>Agt	p.R1832S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1832						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1832S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCAGTTCACGAACCTGCAAC	0.517																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(5494-5496)CGT>AGT		myosin, heavy polypeptide 15							93.0	97.0	96.0					3																	108107918		2096	4215	6311	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108107918G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5494C>A	3.37:g.108107918G>T	ENSP00000273353:p.Arg1832Ser						p.R1832S	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			39	5551	-			1832			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.5494C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912307	0.92178	.	.	ENSG00000144821	ENST00000273353	T	0.80566	-1.39	5.81	-1.56	0.08532	Myosin tail (1);	.	.	.	.	D	0.88097	0.6345	M	0.91872	3.25	0.09310	N	1	D	0.56287	0.975	P	0.60345	0.873	T	0.79160	-0.1918	9	0.87932	D	0	.	6.9801	0.24698	0.3855:0.1076:0.5069:0.0	.	1832	Q9Y2K3	MYH15_HUMAN	S	1832	ENSP00000273353:R1832S	ENSP00000273353:R1832S	R	-	1	0	MYH15	109590608	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-0.100000	0.10990	-0.678000	0.05224	0.655000	0.94253	CGT		PASS	0.517	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		13	74	13	74	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111927206	111927206	+	Missense_Mutation	SNP	C	C	T	rs142600000	byFrequency	TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:111927206C>T	ENST00000305815.5	-	16	2057	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554H	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	602	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R602H(1)									ATGGCATATACGAAAAAAGAA	0.274													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19107	0.0		0.0	False		,,,				2504	0.0					uc003dyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(1804-1806)CGT>CAT		sperm-specific sodium proton exchanger		C	HIS/ARG	5,4369	9.9+/-24.2	0,5,2182	58.0	68.0	65.0		1805	-6.3	0.0	3	dbSNP_134	65	2,8560	2.2+/-6.3	0,2,4279	yes	missense	SLC9A10	NM_183061.1	29	0,7,6461	TT,TC,CC		0.0234,0.1143,0.0541	benign	602/1178	111927206	7,12929	2187	4281	6468	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111927206C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1805G>A	3.37:g.111927206C>T	ENSP00000306627:p.Arg602His					SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.R554H	p.R602H	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			16	2027	-			602			Ion transport-like.		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1805G>A	CCDS33817.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.573	-0.299273	0.05532	0.001143	2.34E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79749	-1.3;-1.3	5.72	-6.3	0.02007	.	1.744570	0.02673	N	0.108746	T	0.60894	0.2304	N	0.12746	0.255	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.49163	-0.8968	10	0.35671	T	0.21	-12.0552	5.5219	0.16938	0.2422:0.29:0.0:0.4678	.	554;602	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	H	602;554	ENSP00000306627:R602H;ENSP00000420688:R554H	ENSP00000306627:R602H	R	-	2	0	SLC9A10	113409896	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.622000	0.00877	-0.953000	0.03645	-2.072000	0.00384	CGT		PASS	0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		23	81	23	81	---	---	---	---
SPICE1	152185	broad.mit.edu	37	3	113184568	113184568	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:113184568G>A	ENST00000295872.4	-	11	1478	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	407					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.H407Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGCTCTCGATGATCACCTAAT	0.388																																						uc003eag.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1219-1221)CAT>TAT		coiled-coil domain containing 52							170.0	155.0	160.0					3																	113184568		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113184568G>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1219C>T	3.37:g.113184568G>A	ENSP00000295872:p.His407Tyr					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.H303Y	p.H407Y	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			11	1510	-			407			Potential.		D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1219C>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449085	0.84101	.	.	ENSG00000163611	ENST00000295872	T	0.35421	1.31	5.1	5.1	0.69264	.	0.052908	0.85682	D	0.000000	T	0.60676	0.2287	M	0.67953	2.075	0.40761	D	0.983004	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.64245	-0.6453	10	0.72032	D	0.01	-16.2938	18.7227	0.91702	0.0:0.0:1.0:0.0	.	303;407	B3KX77;Q8N0Z3	.;SPICE_HUMAN	Y	407	ENSP00000295872:H407Y	ENSP00000295872:H407Y	H	-	1	0	SPICE1	114667258	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.518000	0.73764	2.639000	0.89480	0.650000	0.86243	CAT		PASS	0.388	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		13	81	13	81	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113286437	113286437	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:113286437C>T	ENST00000264852.4	+	3	1121	c.395C>T	c.(394-396)tCa>tTa	p.S132L	SIDT1_ENST00000393830.3_Missense_Mutation_p.S132L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	132					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.S132L(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTATGTCCCTCAGAAGCAACC	0.473																																						uc003eak.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(394-396)TCA>TTA		SID1 transmembrane family, member 1 precursor							137.0	127.0	131.0					3																	113286437		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113286437C>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.395C>T	3.37:g.113286437C>T	ENSP00000264852:p.Ser132Leu					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.S132L|SIDT1_uc011big.1_5'UTR	p.S132L	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			3	1046	+			132			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.395C>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409892	0.42715	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.14516	2.5;2.5	6.17	5.3	0.74995	.	0.126684	0.36234	N	0.002719	T	0.08537	0.0212	N	0.14661	0.345	0.42222	D	0.991853	B	0.12630	0.006	B	0.09377	0.004	T	0.15694	-1.0428	10	0.09590	T	0.72	-2.6149	15.336	0.74255	0.0:0.9338:0.0:0.0662	.	132	Q9NXL6	SIDT1_HUMAN	L	132	ENSP00000264852:S132L;ENSP00000377416:S132L	ENSP00000264852:S132L	S	+	2	0	SIDT1	114769127	0.269000	0.24143	0.943000	0.38184	0.513000	0.34164	2.477000	0.45180	1.630000	0.50440	0.655000	0.94253	TCA		PASS	0.473	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		24	123	24	123	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118649069	118649069	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:118649069G>T	ENST00000393775.2	-	2	411	c.106C>A	c.(106-108)Cgg>Agg	p.R36R	IGSF11_ENST00000354673.2_Silent_p.R35R|IGSF11_ENST00000491903.1_Silent_p.R36R|IGSF11_ENST00000425327.2_Silent_p.R35R|IGSF11_ENST00000489689.1_Silent_p.R36R|IGSF11_ENST00000441144.2_Silent_p.R35R|IGSF11_ENST00000459718.1_5'UTR	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	36	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R35R(1)|p.R36R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGACCCCGGGCCACCTGG	0.552																																						uc003ebw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(106-108)CGG>AGG		immunoglobulin superfamily, member 11 isoform b							104.0	104.0	104.0					3																	118649069		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118649069G>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.106C>A	3.37:g.118649069G>T						IGSF11_uc011biv.1_Silent_p.R36R|IGSF11_uc003ebx.2_Silent_p.R36R|IGSF11_uc003eby.2_Silent_p.R35R|IGSF11_uc003ebz.2_Silent_p.R35R|IGSF11_uc010hqs.2_Silent_p.R35R	p.R36R	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			2	353	-			36			Ig-like V-type.|Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.106C>A	CCDS46891.1																																																																																				PASS	0.552	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			20	53	20	53	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124165652	124165652	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:124165652A>C	ENST00000240874.3	+	21	3623	c.3466A>C	c.(3466-3468)Aca>Cca	p.T1156P	KALRN_ENST00000360013.3_Missense_Mutation_p.T1156P|KALRN_ENST00000460856.1_Missense_Mutation_p.T1147P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1156					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1156P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTACCTCTCAACACATACCTC	0.493																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(3466-3468)ACA>CCA		kalirin, RhoGEF kinase isoform 1							127.0	129.0	129.0					3																	124165652		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124165652A>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3466A>C	3.37:g.124165652A>C	ENSP00000240874:p.Thr1156Pro					KALRN_uc010hrv.1_Missense_Mutation_p.T1147P|KALRN_uc003ehf.1_Missense_Mutation_p.T1156P|KALRN_uc011bjy.1_Missense_Mutation_p.T1147P|KALRN_uc003ehh.1_Missense_Mutation_p.T502P	p.T1156P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			21	3593	+			1156			Spectrin 5.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.3466A>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.065210|4.065210	0.76187|0.76187	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.53423	.|0.62;0.62;0.62	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66167|0.66167	0.2762|0.2762	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.992;0.951;0.999	T|T	0.66135|0.66135	-0.5999|-0.5999	5|10	.|0.46703	.|T	.|0.11	.|.	15.8331|15.8331	0.78773|0.78773	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1147;502;1156;1156	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	H|P	1124|1147;1156;1156	.|ENSP00000418611:T1147P;ENSP00000240874:T1156P;ENSP00000353109:T1156P	.|ENSP00000240874:T1156P	Q|T	+|+	3|1	2|0	KALRN|KALRN	125648342|125648342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.352000|7.352000	0.79404|0.79404	2.315000|2.315000	0.78130|0.78130	0.533000|0.533000	0.62120|0.62120	CAA|ACA		PASS	0.493	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		27	114	27	114	---	---	---	---
HMCES	56941	broad.mit.edu	37	3	129020813	129020813	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:129020813G>T	ENST00000383463.4	+	6	745	c.656G>T	c.(655-657)gGa>gTa	p.G219V	HMCES_ENST00000389735.3_Missense_Mutation_p.G219V|HMCES_ENST00000417226.2_Missense_Mutation_p.G177V|HMCES_ENST00000502878.2_Missense_Mutation_p.G219V	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	219							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.G219V(1)									ATATTAGATGGAGAGGAGGCA	0.473																																						uc003elt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)GGA>GTA		hypothetical protein LOC56941							109.0	116.0	114.0					3																	129020813		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129020813G>T	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.656G>T	3.37:g.129020813G>T	ENSP00000372955:p.Gly219Val					C3orf37_uc003elu.2_Missense_Mutation_p.G177V|C3orf37_uc003elv.2_Missense_Mutation_p.G219V|C3orf37_uc003elw.2_Missense_Mutation_p.G219V	p.G219V	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			6	744	+			219					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.656G>T	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564282	0.86335	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	5.2	5.2	0.72013	.	0.051938	0.85682	D	0.000000	D	0.84840	0.5561	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	D	0.87639	0.2521	9	0.66056	D	0.02	-19.0308	16.5838	0.84722	0.0:0.0:1.0:0.0	.	177;219	E7EMP6;Q96FZ2	.;CC037_HUMAN	V	171;219;177;129;219;219;219;129	.	ENSP00000372955:G219V	G	+	2	0	C3orf37	130503503	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	9.007000	0.93597	2.587000	0.87381	0.591000	0.81541	GGA		PASS	0.473	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		48	70	48	70	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739131	138739131	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:138739131C>A	ENST00000329447.5	-	1	637	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	125								p.D125Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAAAACGTCCACTTCCAGC	0.632																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(373-375)GAC>TAC		proline rich 23B							51.0	53.0	53.0					3																	138739131		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739131C>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.373G>T	3.37:g.138739131C>A	ENSP00000328768:p.Asp125Tyr						p.D125Y	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	638	-			125					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.373G>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309862	0.40895	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.82	-1.31	0.09230	.	1.387220	0.04845	N	0.441377	T	0.37839	0.1018	L	0.34521	1.04	0.09310	N	1	D	0.55385	0.971	P	0.55303	0.773	T	0.27536	-1.0071	9	0.54805	T	0.06	.	4.2543	0.10710	0.1812:0.5698:0.0:0.249	.	125	Q6ZRT6	PR23B_HUMAN	Y	125	.	ENSP00000328768:D125Y	D	-	1	0	PRR23B	140221821	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.341000	0.07811	-0.338000	0.08413	-0.752000	0.03492	GAC		PASS	0.632	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		24	44	24	44	---	---	---	---
GPR171	29909	broad.mit.edu	37	3	150916843	150916843	+	Missense_Mutation	SNP	C	C	T	rs151172001		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:150916843C>T	ENST00000309180.5	-	3	561	c.331G>A	c.(331-333)Gac>Aac	p.D111N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	111					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D111N(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGACAGCGGTCAATGCTGACA	0.428																																						uc003eyq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GAC>AAC		G protein-coupled receptor 171		C	ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	71.0	70.0	70.0		331,	5.7	0.8	3	dbSNP_134	70	0,8600		0,0,4300	no	missense,intron	GPR171,MED12L	NM_013308.3,NM_053002.4	23,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	111/320,	150916843	1,13005	2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916843C>T	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.331G>A	3.37:g.150916843C>T	ENSP00000308479:p.Asp111Asn					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.D111N	NM_013308	NP_037440	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	571	-			111			Cytoplasmic (Potential).		D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.331G>A	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182455	0.78677	2.27E-4	0.0	ENSG00000174946	ENST00000309180	D	0.85484	-1.99	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.70275	2.135	0.42926	D	0.994309	D	0.76494	0.999	D	0.75020	0.985	D	0.91072	0.4893	10	0.44086	T	0.13	-18.863	19.8411	0.96685	0.0:1.0:0.0:0.0	.	111	O14626	GP171_HUMAN	N	111	ENSP00000308479:D111N	ENSP00000308479:D111N	D	-	1	0	GPR171	152399533	1.000000	0.71417	0.828000	0.32881	0.783000	0.44284	5.113000	0.64640	2.683000	0.91414	0.655000	0.94253	GAC		PASS	0.428	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		23	103	23	103	---	---	---	---
P2RY1	5028	broad.mit.edu	37	3	152553988	152553988	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:152553988C>G	ENST00000305097.3	+	1	1253	c.417C>G	c.(415-417)atC>atG	p.I139M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	139					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.I139M(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ATGGCAGCATCTTGTTTCTGA	0.498																																						uc003ezq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(415-417)ATC>ATG		purinergic receptor P2Y1							81.0	74.0	77.0					3																	152553988		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553988C>G	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.417C>G	3.37:g.152553988C>G	ENSP00000304767:p.Ile139Met						p.I139M	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1253	+			139			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000305097.3	37	c.417C>G	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142316	0.77775	.	.	ENSG00000169860	ENST00000305097	T	0.76316	-1.01	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.79258	2.445	0.58432	D	0.999999	D	0.71674	0.998	D	0.72338	0.977	D	0.88794	0.3280	10	0.62326	D	0.03	.	18.9739	0.92728	0.0:1.0:0.0:0.0	.	139	P47900	P2RY1_HUMAN	M	139	ENSP00000304767:I139M	ENSP00000304767:I139M	I	+	3	3	P2RY1	154036678	0.957000	0.32711	0.999000	0.59377	0.996000	0.88848	1.957000	0.40392	2.706000	0.92434	0.655000	0.94253	ATC		PASS	0.498	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		16	75	16	75	---	---	---	---
IL12A	3592	broad.mit.edu	37	3	159711632	159711632	+	Splice_Site	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:159711632G>C	ENST00000305579.2	+	6	913		c.e6+1		IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site|IL12A_ENST00000466512.1_Splice_Site	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)	p.?(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCTGATGCAGGTAAGACTTCA	0.413																																						uc003fcx.2																			1	Unknown(1)		lung(1)		0						c.e6+1		interleukin 12A precursor							122.0	124.0	123.0					3																	159711632		2203	4300	6503	SO:0001630	splice_region_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159711632G>C	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.606+1G>C	3.37:g.159711632G>C						uc003fcw.1_Intron	p.Q202_splice	NM_000882	NP_000873	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		6	821	+								Q96QZ1	Splice_Site	SNP	ENST00000305579.2	37	c.606_splice	CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188789	0.38609	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.448	0.67364	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL12A	161194326	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.185000	0.65076	2.463000	0.83235	0.655000	0.94253	.		PASS	0.413	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882	Intron	12	190	12	190	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160219892	160219892	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:160219892C>T	ENST00000334256.4	-	17	1871	c.1566G>A	c.(1564-1566)taG>taA	p.*522*		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	0					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.*522*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CAACATCTTTCTAAAACTGGA	0.338																																						uc003fdn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1564-1566)TAG>TAA		karyopherin alpha 4							124.0	122.0	122.0					3																	160219892		2203	4300	6503	SO:0001819	synonymous_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160219892C>T	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1566G>A	3.37:g.160219892C>T							p.*522*	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		17	1872	-			522					A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	c.1566G>A	CCDS3191.1																																																																																				PASS	0.338	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		25	153	25	153	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164908292	164908292	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:164908292C>T	ENST00000475390.1	-	2	770	c.327G>A	c.(325-327)ggG>ggA	p.G109G	SLITRK3_ENST00000241274.3_Silent_p.G109G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	109					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G109G(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						ATGCATTGTTCCCAAGATTAA	0.338										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(325-327)GGG>GGA		slit and trk like 3 protein precursor							50.0	51.0	51.0					3																	164908292		2202	4299	6501	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164908292C>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.327G>A	3.37:g.164908292C>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.G109G	p.G109G	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	771	-			109			LRR 2.|Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.327G>A	CCDS3197.1																																																																																				PASS	0.338	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		12	93	12	93	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		PASS	0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			62	57	62	57	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777983	183777983	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:183777983G>C	ENST00000318351.1	+	9	1221	c.1187G>C	c.(1186-1188)aGa>aCa	p.R396T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	396					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.R396T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTGGGACCCAGAGAGACCGAG	0.607																																						uc003fmk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1186-1188)AGA>ACA		5-hydroxytryptamine receptor 3 subunit C							75.0	75.0	75.0					3																	183777983		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777983G>C	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1187G>C	3.37:g.183777983G>C	ENSP00000322617:p.Arg396Thr						p.R396T	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1221	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		396			Cytoplasmic (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1187G>C	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	G	6.382	0.438596	0.12104	.	.	ENSG00000178084	ENST00000318351	T	0.81415	-1.49	3.9	0.849	0.18972	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.823570	0.03052	N	0.154761	T	0.75221	0.3820	L	0.58810	1.83	0.09310	N	1	B	0.19935	0.04	B	0.21360	0.034	T	0.48210	-0.9055	10	0.20519	T	0.43	.	4.3041	0.10938	0.2231:0.1874:0.5895:0.0	.	396	Q8WXA8	5HT3C_HUMAN	T	396	ENSP00000322617:R396T	ENSP00000322617:R396T	R	+	2	0	HTR3C	185260677	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.151000	0.16283	0.314000	0.23086	0.563000	0.77884	AGA		PASS	0.607	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		13	85	13	85	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039394	184039394	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:184039394C>A	ENST00000346169.2	+	10	1293	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	EIF4G1_ENST00000441154.1_Missense_Mutation_p.S177Y|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S254Y|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S348Y|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S348Y|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S177Y|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S254Y|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S145Y|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S341Y|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S301Y|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S301Y|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S341Y|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S145Y|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S348Y	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	341					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.S341Y(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGAGTTTTCTTCCAGTCCT	0.527																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1021-1023)TCT>TAT		eukaryotic translation initiation factor 4							90.0	87.0	88.0					3																	184039394		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039394C>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1022C>A	3.37:g.184039394C>A	ENSP00000316879:p.Ser341Tyr					EIF4G1_uc003fno.1_Missense_Mutation_p.S282Y|EIF4G1_uc010hxw.1_Missense_Mutation_p.S177Y|EIF4G1_uc003fnt.2_Missense_Mutation_p.S52Y|EIF4G1_uc003fnq.2_Missense_Mutation_p.S254Y|EIF4G1_uc003fnr.2_Missense_Mutation_p.S177Y|EIF4G1_uc010hxx.2_Missense_Mutation_p.S348Y|EIF4G1_uc003fns.2_Missense_Mutation_p.S301Y|EIF4G1_uc010hxy.2_Missense_Mutation_p.S348Y|EIF4G1_uc003fnv.3_Missense_Mutation_p.S341Y|EIF4G1_uc003fnu.3_Missense_Mutation_p.S341Y|EIF4G1_uc003fnw.2_Missense_Mutation_p.S348Y|EIF4G1_uc003fnx.2_Missense_Mutation_p.S145Y|EIF4G1_uc003fny.3_Missense_Mutation_p.S145Y	p.S341Y	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1220	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		341					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1022C>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651210	0.47362	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	3.83;3.83;3.74;2.74;2.74;3.84;2.9;3.65;3.84;3.74;3.83;3.83;3.84;3.84;2.31;3.64;3.66;0.61;1.28;3.65	5.2	5.2	0.72013	.	0.247760	0.39210	N	0.001426	T	0.34077	0.0885	N	0.24115	0.695	0.30773	N	0.742776	P;P;P;P	0.44090	0.826;0.679;0.826;0.454	B;B;B;B	0.41088	0.347;0.259;0.347;0.259	T	0.43278	-0.9401	10	0.62326	D	0.03	-3.2828	9.9395	0.41572	0.0:0.9097:0.0:0.0903	.	348;341;341;348	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Y	341;301;254;341;348;348;282;177;348;254;341;341;348;301;177;177;145;145;145;145	ENSP00000316879:S341Y;ENSP00000391935:S301Y;ENSP00000376320:S254Y;ENSP00000391412:S341Y;ENSP00000413159:S348Y;ENSP00000371767:S348Y;ENSP00000403269:S282Y;ENSP00000317600:S177Y;ENSP00000338020:S348Y;ENSP00000407682:S254Y;ENSP00000343450:S341Y;ENSP00000323737:S341Y;ENSP00000416255:S348Y;ENSP00000395974:S301Y;ENSP00000398145:S177Y;ENSP00000399858:S177Y;ENSP00000411826:S145Y;ENSP00000409545:S145Y;ENSP00000399969:S145Y;ENSP00000404754:S145Y	ENSP00000323737:S341Y	S	+	2	0	EIF4G1	185522088	0.988000	0.35896	1.000000	0.80357	0.800000	0.45204	2.114000	0.41911	2.861000	0.98227	0.655000	0.94253	TCT		PASS	0.527	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		10	160	10	160	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185169078	185169078	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:185169078G>C	ENST00000265026.3	+	7	1507	c.1173G>C	c.(1171-1173)caG>caC	p.Q391H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.Q247H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.Q391H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.Q247H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.Q184H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.Q391H(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTTTTAGGCAGAGTAAACCTC	0.373																																						uc010hyf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1171-1173)CAG>CAC		mitogen-activated protein kinase kinase kinase							116.0	102.0	107.0					3																	185169078		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185169078G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1173G>C	3.37:g.185169078G>C	ENSP00000265026:p.Gln391His					MAP3K13_uc011brt.1_Missense_Mutation_p.Q184H|MAP3K13_uc003fph.3_Missense_Mutation_p.Q159H|MAP3K13_uc011bru.1_Missense_Mutation_p.Q247H|MAP3K13_uc003fpi.2_Missense_Mutation_p.Q391H|MAP3K13_uc010hyg.2_Missense_Mutation_p.Q81H	p.Q391H	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		8	1439	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		391			Protein kinase.			Missense_Mutation	SNP	ENST00000265026.3	37	c.1173G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403444	0.25291	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.76	-0.782	0.10961	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	N	0.16201	0.385	0.53688	D	0.999977	B;B;B	0.15141	0.01;0.01;0.012	B;B;B	0.20577	0.018;0.018;0.03	T	0.52147	-0.8614	10	0.38643	T	0.18	.	12.5911	0.56443	0.5207:0.0:0.4793:0.0	.	247;184;391	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	184;391;247;247;391;136	ENSP00000411483:Q184H;ENSP00000399910:Q391H;ENSP00000409325:Q247H;ENSP00000439257:Q247H;ENSP00000265026:Q391H;ENSP00000415712:Q136H	ENSP00000265026:Q391H	Q	+	3	2	MAP3K13	186651772	0.999000	0.42202	0.984000	0.44739	0.618000	0.37518	0.548000	0.23314	-0.369000	0.08028	-1.110000	0.02074	CAG		PASS	0.373	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		15	87	15	87	---	---	---	---
TRA2B	6434	broad.mit.edu	37	3	185641673	185641673	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:185641673C>A	ENST00000453386.2	-	4	708	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S	TRA2B_ENST00000382191.4_Missense_Mutation_p.A45S|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	145	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A145S(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GACACATCGGCAATGGGACCA	0.403																																						uc003fpv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(433-435)GCC>TCC		splicing factor, arginine/serine-rich 10							100.0	91.0	94.0					3																	185641673		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185641673C>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.433G>T	3.37:g.185641673C>A	ENSP00000416959:p.Ala145Ser					TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.A45S|TRA2B_uc003fpw.2_Missense_Mutation_p.A145S	p.A145S	NM_004593	NP_004584	P62995	TRA2B_HUMAN			4	709	-			145			RRM.		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.433G>T	CCDS33905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.98|13.98	2.397787|2.397787	0.42512|0.42512	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000453386;ENST00000382191|ENST00000259043	D;D|.	0.85773|.	-2.03;-2.03|.	6.01|6.01	6.01|6.01	0.97437|0.97437	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.204814|.	0.52532|.	D|.	0.000078|.	T|T	0.38878|0.38878	0.1057|0.1057	N|N	0.11131|0.11131	0.1|0.1	0.80722|0.80722	D|D	1|1	B;B|.	0.22541|.	0.071;0.071|.	B;B|.	0.34346|.	0.18;0.18|.	T|T	0.26780|0.26780	-1.0093|-1.0093	10|5	0.12766|.	T|.	0.61|.	-6.1011|-6.1011	12.5971|12.5971	0.56476|0.56476	0.0:0.9237:0.0:0.0763|0.0:0.9237:0.0:0.0763	.|.	145;145|.	B2RDQ3;P62995|.	.;TRA2B_HUMAN|.	S|F	145;45|3	ENSP00000416959:A145S;ENSP00000371626:A45S|.	ENSP00000371626:A45S|.	A|L	-|-	1|3	0|2	TRA2B|TRA2B	187124367|187124367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	3.153000|3.153000	0.50685|0.50685	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GCC|TTG		PASS	0.403	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		17	101	17	101	---	---	---	---
EIF4A2	1974	broad.mit.edu	37	3	186503789	186503789	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:186503789G>A	ENST00000323963.5	+	5	530	c.466G>A	c.(466-468)Gtt>Att	p.V156I	SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORD2_ENST00000459163.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V157I|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V61I|SNORA63_ENST00000363450.1_RNA|SNORA63_ENST00000363548.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	156	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.V156I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ACCACATATTGTTGTTGGTAC	0.383			T	BCL6	NHL																																	uc003fqs.2				Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(466-468)GTT>ATT		eukaryotic translation initiation factor 4A2							90.0	84.0	86.0					3																	186503789		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186503789G>A	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.466G>A	3.37:g.186503789G>A	ENSP00000326381:p.Val156Ile					EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.V157I|EIF4A2_uc003fqv.2_Missense_Mutation_p.V61I|EIF4A2_uc003fqw.2_Missense_Mutation_p.V61I|EIF4A2_uc011bsb.1_Missense_Mutation_p.V29I|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	p.V156I	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	5	505	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		156			Helicase ATP-binding.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.466G>A	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563271	0.45694	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.19250	2.16;2.16;2.16	4.6	4.6	0.57074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15739	0.0379	N	0.20574	0.59	0.80722	D	1	B;B;B;B	0.13145	0.007;0.0;0.001;0.001	B;B;B;B	0.18561	0.022;0.005;0.003;0.017	T	0.04386	-1.0955	10	0.44086	T	0.13	-7.8139	15.3092	0.74016	0.0:0.0:1.0:0.0	.	12;61;157;156	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	I	156;157;61	ENSP00000326381:V156I;ENSP00000398370:V157I;ENSP00000348925:V61I	ENSP00000326381:V156I	V	+	1	0	EIF4A2	187986483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.944000	0.92980	2.544000	0.85801	0.650000	0.86243	GTT		PASS	0.383	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		7	161	7	161	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186940936	186940936	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:186940936C>A	ENST00000337774.5	-	14	2177	c.1788G>T	c.(1786-1788)agG>agT	p.R596S		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	596	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.R596S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTCTGGGAACCTTTGCAAGA	0.522																																						uc003frh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1786-1788)AGG>AGT		mannan-binding lectin serine protease 1 isoform							104.0	94.0	97.0					3																	186940936		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186940936C>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1788G>T	3.37:g.186940936C>A	ENSP00000336792:p.Arg596Ser						p.R596S	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	14	2120	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		596			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1788G>T	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	8.261	0.811227	0.16537	.	.	ENSG00000127241	ENST00000337774	D	0.88431	-2.38	5.88	-2.62	0.06152	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.67998	0.2953	N	0.04203	-0.255	0.09310	N	0.999999	B	0.06786	0.001	B	0.10450	0.005	T	0.58549	-0.7617	9	0.07990	T	0.79	.	4.3099	0.10965	0.3389:0.3637:0.0:0.2974	.	596	P48740	MASP1_HUMAN	S	596	ENSP00000336792:R596S	ENSP00000336792:R596S	R	-	3	2	MASP1	188423630	0.002000	0.14202	0.496000	0.27539	0.992000	0.81027	-1.437000	0.02419	-0.140000	0.11394	-0.136000	0.14681	AGG		PASS	0.522	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		12	57	12	57	---	---	---	---
ZDHHC19	131540	broad.mit.edu	37	3	195937563	195937563	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:195937563G>A	ENST00000296326.3	-	2	271	c.192C>T	c.(190-192)atC>atT	p.I64I	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	64						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.I64I(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGAGCCTGTGATAACAGGAA	0.582																																						uc003fwc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(190-192)ATC>ATT		zinc finger, DHHC domain containing 19							63.0	71.0	68.0					3																	195937563		1987	4159	6146	SO:0001819	synonymous_variant	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195937563G>A	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.192C>T	3.37:g.195937563G>A						ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_Intron|ZDHHC19_uc010iab.2_RNA	p.I64I	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	2	306	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		64			Helical; (Potential).		A8MSY6|B3KVI1	Silent	SNP	ENST00000296326.3	37	c.192C>T	CCDS43190.1																																																																																				PASS	0.582	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		10	51	10	51	---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2274986	2274986	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:2274986G>T	ENST00000290974.2	-	10	2576	c.2237C>A	c.(2236-2238)gCc>gAc	p.A746D	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.A51D|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A676D|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A716D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	746					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A746D(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CAGGTCACTGGCATAGTTCGT	0.532																																						uc003gex.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2236-2238)GCC>GAC		zinc finger, FYVE domain containing 28							153.0	154.0	154.0					4																	2274986		2203	4300	6503	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2274986G>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2237C>A	4.37:g.2274986G>T	ENSP00000290974:p.Ala746Asp					ZFYVE28_uc011bvk.1_Missense_Mutation_p.A676D|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A716D|ZFYVE28_uc003gew.1_Missense_Mutation_p.A632D	p.A746D	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			10	2556	-			746					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.2237C>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466494	0.63625	.	.	ENSG00000159733	ENST00000508471;ENST00000290974;ENST00000511071;ENST00000515312	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.73962	2.25	0.80722	D	1	P;D	0.63046	0.865;0.992	B;P	0.52109	0.294;0.69	T	0.67122	-0.5750	10	0.72032	D	0.01	.	14.2865	0.66249	0.0:0.0:1.0:0.0	.	716;746	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	D	51;746;716;676	ENSP00000427654:A51D;ENSP00000290974:A746D;ENSP00000425706:A716D;ENSP00000426299:A676D	ENSP00000290974:A746D	A	-	2	0	ZFYVE28	2244784	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	8.943000	0.92975	1.955000	0.56771	0.650000	0.86243	GCC		PASS	0.532	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		12	27	12	27	---	---	---	---
CRMP1	1400	broad.mit.edu	37	4	5868476	5868476	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:5868476C>G	ENST00000397890.2	-	2	261	c.47G>C	c.(46-48)cGa>cCa	p.R16P	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R130P|CRMP1_ENST00000512574.1_Missense_Mutation_p.R14P	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	16					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R130P(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GATGAGGAGTCGGTCACTCTG	0.383																																						uc003gip.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(46-48)CGA>CCA		collapsin response mediator protein 1 isoform 2							106.0	92.0	96.0					4																	5868476		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5868476C>G	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.47G>C	4.37:g.5868476C>G	ENSP00000380987:p.Arg16Pro					CRMP1_uc003gin.1_5'UTR|CRMP1_uc003giq.2_Missense_Mutation_p.R16P|CRMP1_uc003gir.2_Missense_Mutation_p.R11P|CRMP1_uc003gis.2_Missense_Mutation_p.R130P	p.R16P	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	3	148	-			16					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.47G>C	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079635	0.76528	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.87179	-2.22;-2.16;-2.17	4.26	4.26	0.50523	Metal-dependent hydrolase, composite domain (1);	0.237948	0.33772	N	0.004567	D	0.83972	0.5370	L	0.56396	1.775	0.53005	D	0.999961	P;B;B	0.40431	0.717;0.295;0.17	B;B;B	0.34931	0.192;0.114;0.162	D	0.86921	0.2067	10	0.66056	D	0.02	-23.8303	15.8244	0.78686	0.0:1.0:0.0:0.0	.	130;14;16	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	P	130;16;16;14	ENSP00000321606:R130P;ENSP00000380987:R16P;ENSP00000425742:R14P	ENSP00000321606:R130P	R	-	2	0	CRMP1	5919377	0.988000	0.35896	0.999000	0.59377	0.955000	0.61496	2.811000	0.47986	2.194000	0.70268	0.563000	0.77884	CGA		PASS	0.383	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		21	35	21	35	---	---	---	---
CD38	952	broad.mit.edu	37	4	15839788	15839788	+	Splice_Site	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:15839788G>A	ENST00000226279.3	+	5	796	c.659G>A	c.(658-660)aGc>aAc	p.S220N		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	220					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.S220N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACAAAAACAGGTACACATTT	0.368																																						uc011bxc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(658-660)AGC>AAC		CD38 antigen							134.0	124.0	128.0					4																	15839788		2203	4300	6503	SO:0001630	splice_region_variant	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15839788G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.659+1G>A	4.37:g.15839788G>A						CD38_uc003gol.1_Missense_Mutation_p.S220N	p.S220N	NM_001775	NP_001766	P28907	CD38_HUMAN			5	766	+			220			Extracellular (Potential).		O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.659G>A	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130011	0.56721	.	.	ENSG00000004468	ENST00000226279;ENST00000510674	T;T	0.24908	1.83;1.83	5.62	5.62	0.85841	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59247	-0.7490	10	0.59425	D	0.04	-34.1177	15.5144	0.75812	0.0:0.0:1.0:0.0	.	220	P28907	CD38_HUMAN	N	220;108	ENSP00000226279:S220N;ENSP00000423047:S108N	ENSP00000226279:S220N	S	+	2	0	CD38	15448886	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	4.521000	0.60532	2.813000	0.96785	0.561000	0.74099	AGC		PASS	0.368	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	Missense_Mutation	5	20	5	20	---	---	---	---
ANAPC4	29945	broad.mit.edu	37	4	25419243	25419243	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:25419243A>G	ENST00000315368.3	+	28	2223	c.2081A>G	c.(2080-2082)gAt>gGt	p.D694G	ANAPC4_ENST00000510092.1_Missense_Mutation_p.D695G	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	694					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.D694G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTAGGCTAGATGAACAGTGT	0.413																																						uc003gro.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(2080-2082)GAT>GGT		anaphase-promoting complex subunit 4							237.0	217.0	224.0					4																	25419243		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25419243A>G	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2081A>G	4.37:g.25419243A>G	ENSP00000318775:p.Asp694Gly					ANAPC4_uc003grp.2_Missense_Mutation_p.D580G|ANAPC4_uc003grq.2_Missense_Mutation_p.D147G	p.D694G	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			28	2210	+		Breast(46;0.0503)	694					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.2081A>G	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792211	0.50102	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.31510	1.49;1.49	5.43	5.43	0.79202	.	0.093225	0.85682	D	0.000000	T	0.23492	0.0568	L	0.27053	0.805	0.54753	D	0.999988	B	0.17852	0.024	B	0.10450	0.005	T	0.04216	-1.0968	10	0.23302	T	0.38	-30.469	15.7912	0.78367	1.0:0.0:0.0:0.0	.	694	Q9UJX5	APC4_HUMAN	G	694;695	ENSP00000318775:D694G;ENSP00000426654:D695G	ENSP00000318775:D694G	D	+	2	0	ANAPC4	25028341	1.000000	0.71417	0.966000	0.40874	0.811000	0.45836	6.444000	0.73452	2.187000	0.69744	0.523000	0.50628	GAT		PASS	0.413	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		23	72	23	72	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56737265	56737265	+	Splice_Site	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:56737265A>G	ENST00000381295.2	+	7	1179		c.e7-1		EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CATATATTCTAGAACCACATG	0.413																																						uc003hbe.1																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.e7-2		exocyst complex component 1 isoform 1							87.0	78.0	81.0					4																	56737265		2203	4300	6503	SO:0001630	splice_region_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56737265A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.832-1A>G	4.37:g.56737265A>G						EXOC1_uc003hbf.1_Splice_Site_p.N278_splice|EXOC1_uc003hbg.1_Splice_Site_p.N278_splice	p.N278_splice	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			7	990	+	Glioma(25;0.08)|all_neural(26;0.101)							Q504V4|Q8WUE7|Q96T15|Q9NZE4	Splice_Site	SNP	ENST00000381295.2	37	c.832_splice	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804445	0.70682	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXOC1	56432022	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	8.962000	0.93254	2.285000	0.76669	0.477000	0.44152	.		PASS	0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	Intron	11	47	11	47	---	---	---	---
TMPRSS11B	132724	broad.mit.edu	37	4	69094472	69094472	+	Silent	SNP	A	A	G	rs34044450	byFrequency	TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:69094472A>G	ENST00000332644.5	-	9	1238	c.1077T>C	c.(1075-1077)gcT>gcC	p.A359A		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	359	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A359A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GACATGCATCAGCTTCTCCTG	0.323																																						uc003hdw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1075-1077)GCT>GCC		transmembrane protease, serine 11B							131.0	120.0	124.0					4																	69094472		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69094472A>G	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.1077T>C	4.37:g.69094472A>G							p.A359A	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			9	1213	-			359			Peptidase S1.|Extracellular (Potential).		A8K4D9	Silent	SNP	ENST00000332644.5	37	c.1077T>C	CCDS3521.1																																																																																				PASS	0.323	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		12	51	12	51	---	---	---	---
UGT2A1	10941	broad.mit.edu	37	4	70462038	70462038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:70462038G>T	ENST00000503640.1	-	3	981	c.926C>A	c.(925-927)tCa>tAa	p.S309*	UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.S318*|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000502343.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	309					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S318*(1)|p.S309*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTGACCATTGATCCCAGAGA	0.413																																						uc003hem.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(925-927)TCA>TAA		UDP glucuronosyltransferase 2 family,							122.0	114.0	116.0					4																	70462038		2203	4300	6503	SO:0001587	stop_gained	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70462038G>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.926C>A	4.37:g.70462038G>T	ENSP00000424478:p.Ser309*					UGT2A1_uc011caq.1_Intron|UGT2A1_uc010ihu.2_Intron|UGT2A1_uc010iht.2_Intron|UGT2A1_uc010ihs.2_Nonsense_Mutation_p.S310*	p.S309*	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			3	989	-			309			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Nonsense_Mutation	SNP	ENST00000503640.1	37	c.926C>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008632	0.93346	.	.	ENSG00000173610	ENST00000457664;ENST00000503640	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.687	0.85311	0.0:0.0:1.0:0.0	.	.	.	.	X	318;309	.	ENSP00000387888:S318X	S	-	2	0	UGT2A1	70496627	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.477000	0.97925	2.530000	0.85305	0.591000	0.81541	TCA		PASS	0.413	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		12	35	12	35	---	---	---	---
CABS1	85438	broad.mit.edu	37	4	71201608	71201608	+	Silent	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:71201608T>A	ENST00000273936.5	+	1	926	c.852T>A	c.(850-852)acT>acA	p.T284T		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	284					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.T284T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGAAGATACTCTGCTAACTG	0.428																																						uc003hff.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(850-852)ACT>ACA		testis development protein NYD-SP26							103.0	97.0	99.0					4																	71201608		2203	4300	6503	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201608T>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.852T>A	4.37:g.71201608T>A							p.T284T	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	938	+		all_hematologic(202;0.196)	284					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.852T>A	CCDS3539.1																																																																																				PASS	0.428	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		15	40	15	40	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81124467	81124467	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:81124467C>T	ENST00000504452.1	+	8	2690	c.1851C>T	c.(1849-1851)acC>acT	p.T617T	PRDM8_ENST00000339711.4_Silent_p.T617T|PRDM8_ENST00000415738.2_Silent_p.T617T			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	617					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.T617T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						cCTCCTTCACCTCGCTGTGTC	0.687																																						uc010ijo.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1849-1851)ACC>ACT		PR domain containing 8							21.0	23.0	22.0					4																	81124467		2170	4259	6429	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81124467C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1851C>T	4.37:g.81124467C>T						PRDM8_uc003hmb.3_Silent_p.T617T|PRDM8_uc003hmc.3_Silent_p.T617T	p.T617T	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			8	2690	+			617					A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.1851C>T	CCDS43243.1																																																																																				PASS	0.687	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			5	14	5	14	---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82126129	82126129	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:82126129C>A	ENST00000395578.1	-	2	189	c.73G>T	c.(73-75)Gct>Tct	p.A25S	PRKG2_ENST00000418486.2_Missense_Mutation_p.A25S|PRKG2_ENST00000264399.1_Missense_Mutation_p.A25S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	25					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.A25S(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTCCGCAGAGCATCAGTGGTG	0.527																																						uc003hmh.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(73-75)GCT>TCT		protein kinase, cGMP-dependent, type II							85.0	79.0	81.0					4																	82126129		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82126129C>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.73G>T	4.37:g.82126129C>A	ENSP00000378945:p.Ala25Ser					PRKG2_uc011cch.1_Missense_Mutation_p.A25S	p.A25S	NM_006259	NP_006250	Q13237	KGP2_HUMAN			1	87	-			25					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.73G>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	4.651	0.121074	0.08881	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.68903	-0.25;-0.25;-0.36	5.1	5.1	0.69264	.	0.324008	0.32970	N	0.005427	T	0.36386	0.0965	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36529	-0.9744	10	0.06757	T	0.87	-15.4002	9.0566	0.36410	0.0:0.8385:0.0:0.1615	.	25;25	E7EPE6;Q13237	.;KGP2_HUMAN	S	25	ENSP00000378945:A25S;ENSP00000264399:A25S;ENSP00000389038:A25S	ENSP00000264399:A25S	A	-	1	0	PRKG2	82345153	0.943000	0.32029	0.970000	0.41538	0.139000	0.21198	1.150000	0.31639	2.665000	0.90641	0.585000	0.79938	GCT		PASS	0.527	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		7	32	7	32	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84342756	84342756	+	Missense_Mutation	SNP	C	C	G	rs376209774		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:84342756C>G	ENST00000295488.3	-	15	3071	c.2909G>C	c.(2908-2910)gGa>gCa	p.G970A	HELQ_ENST00000510985.1_Missense_Mutation_p.G903A	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	970					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.G970A(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGAGGCAGTTCCAGTGAGAAG	0.333								Other identified genes with known or suspected DNA repair function																														uc003hom.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2908-2910)GGA>GCA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308		C	ALA/GLY	1,4405		0,1,2202	107.0	106.0	106.0		2909	2.3	0.9	4		106	0,8600		0,0,4300	no	missense	HELQ	NM_133636.2	60	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	970/1102	84342756	1,13005	2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84342756C>G	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2909G>C	4.37:g.84342756C>G	ENSP00000295488:p.Gly970Ala					HELQ_uc010ikb.2_Missense_Mutation_p.G903A|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.G970A	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			15	3088	-			970					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2909G>C	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016860	0.19355	2.27E-4	0.0	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.72615	-0.67;-0.67	5.1	2.34	0.29019	.	0.723572	0.13791	N	0.362510	T	0.58424	0.2121	N	0.26042	0.785	0.20821	N	0.999842	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.33292	-0.9874	10	0.20519	T	0.43	-1.2369	16.5575	0.84490	0.0:0.3708:0.6292:0.0	.	903;970	E3W980;Q8TDG4	.;HELQ_HUMAN	A	970;903	ENSP00000295488:G970A;ENSP00000424539:G903A	ENSP00000295488:G970A	G	-	2	0	HELQ	84561780	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	2.777000	0.47717	0.154000	0.19237	0.591000	0.81541	GGA		PASS	0.333	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		4	24	4	24	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85750243	85750243	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:85750243G>A	ENST00000295888.4	-	9	1277	c.870C>T	c.(868-870)ctC>ctT	p.L290L	WDFY3_ENST00000322366.6_Silent_p.L290L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	290					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L290L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGAATCTTTGAGGAAACAAG	0.393																																						uc003hpd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(868-870)CTC>CTT		WD repeat and FYVE domain containing 3 isoform							94.0	98.0	97.0					4																	85750243		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85750243G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.870C>T	4.37:g.85750243G>A						WDFY3_uc003hpf.2_Silent_p.L290L	p.L290L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	9	1278	-		Hepatocellular(203;0.114)	290					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.870C>T	CCDS3609.1																																																																																				PASS	0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		18	60	18	60	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89358063	89358063	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:89358063G>A	ENST00000264346.7	+	19	2483	c.2424G>A	c.(2422-2424)ttG>ttA	p.L808L	HERC6_ENST00000380265.5_Silent_p.L772L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	808	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L808L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTAGGAGTTTGCAAGAAGTTC	0.299																																						uc011cdi.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|kidney(1)	5						c.(2422-2424)TTG>TTA		hect domain and RLD 6 isoform 1							66.0	62.0	63.0					4																	89358063		1843	4120	5963	SO:0001819	synonymous_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89358063G>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2424G>A	4.37:g.89358063G>A						HERC6_uc011cdj.1_Silent_p.L772L|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.L808L	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	19	2607	+		Hepatocellular(203;0.114)	808			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	c.2424G>A	CCDS47098.1																																																																																				PASS	0.299	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			5	18	5	18	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100534143	100534143	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:100534143C>A	ENST00000265517.5	+	15	2266	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.S688Y|MTTP_ENST00000511045.1_Missense_Mutation_p.S715Y			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	688					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.S688Y(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AACCTTGACTCCTATGCTGGT	0.463																																						uc003hvc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2062-2064)TCC>TAC		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						186.0	174.0	178.0					4																	100534143		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534143C>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2063C>A	4.37:g.100534143C>A	ENSP00000265517:p.Ser688Tyr					MTTP_uc011cej.1_Missense_Mutation_p.S715Y	p.S688Y	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2319	+			688					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2063C>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681031	0.88542	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.63580	-0.05;-0.03;-0.03	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.978;0.997	T	0.79448	-0.1799	10	0.72032	D	0.01	-28.0815	19.7133	0.96105	0.0:1.0:0.0:0.0	.	715;688	E9PBP6;P55157	.;MTP_HUMAN	Y	715;688;688	ENSP00000427679:S715Y;ENSP00000400821:S688Y;ENSP00000265517:S688Y	ENSP00000265517:S688Y	S	+	2	0	MTTP	100753166	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.387000	0.79785	2.659000	0.90383	0.650000	0.86243	TCC		PASS	0.463	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			21	64	21	64	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073621	134073621	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:134073621C>A	ENST00000264360.5	+	1	3152	c.2326C>A	c.(2326-2328)Cgg>Agg	p.R776R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	776					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R776R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGCCAAGCCCGGGCGCGCAA	0.602																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2326-2328)CGG>AGG		protocadherin 10 isoform 1 precursor							34.0	35.0	35.0					4																	134073621		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073621C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2326C>A	4.37:g.134073621C>A						PCDH10_uc003igz.2_Silent_p.R776R	p.R776R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3152	+			776			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2326C>A	CCDS34063.1																																																																																				PASS	0.602	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		8	16	8	16	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177089850	177089850	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr4:177089850G>T	ENST00000280190.4	+	25	3291	c.3135G>T	c.(3133-3135)atG>atT	p.M1045I	WDR17_ENST00000393643.2_Missense_Mutation_p.M1021I|WDR17_ENST00000508596.1_Missense_Mutation_p.M1006I|WDR17_ENST00000507824.2_Missense_Mutation_p.M1020I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1045								p.M1045I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCTTCTGATGATTCCTGATA	0.343																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3133-3135)ATG>ATT		WD repeat domain 17 isoform 1							136.0	131.0	133.0					4																	177089850		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177089850G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3135G>T	4.37:g.177089850G>T	ENSP00000280190:p.Met1045Ile					WDR17_uc003iuk.2_Missense_Mutation_p.M1021I|WDR17_uc003ium.3_Missense_Mutation_p.M1006I|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.M256I	p.M1045I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	25	3291	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1045					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3135G>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.59|14.59	2.581406|2.581406	0.46006|0.46006	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.57752	.|0.46;0.43;0.38	5.1|5.1	4.24|4.24	0.50183|0.50183	.|.	.|0.048800	.|0.85682	.|D	.|0.000000	T|T	0.49184|0.49184	0.1542|0.1542	M|M	0.63428|0.63428	1.95|1.95	0.54753|0.54753	D|D	0.999986|0.999986	.|P;P;P	.|0.37176	.|0.586;0.568;0.568	.|B;B;B	.|0.34824	.|0.19;0.19;0.19	T|T	0.55736|0.55736	-0.8094|-0.8094	5|10	.|0.49607	.|T	.|0.09	-28.9344|-28.9344	14.0047|14.0047	0.64456|0.64456	0.0743:0.0:0.9257:0.0|0.0743:0.0:0.9257:0.0	.|.	.|1021;1006;1045	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	Y|I	280|1006;1021;1045;1021	.|ENSP00000422763:M1006I;ENSP00000377258:M1021I;ENSP00000280190:M1045I	.|ENSP00000280190:M1045I	D|M	+|+	1|3	0|0	WDR17|WDR17	177326844|177326844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.733000|0.733000	0.41908|0.41908	7.114000|7.114000	0.77103|0.77103	2.647000|2.647000	0.89833|0.89833	0.591000|0.591000	0.81541|0.81541	GAT|ATG		PASS	0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			9	52	9	52	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5146538	5146538	+	Silent	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:5146538C>G	ENST00000274181.7	+	3	609	c.471C>G	c.(469-471)tcC>tcG	p.S157S	ADAMTS16_ENST00000511368.1_Silent_p.S157S|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	157					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S157S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAGAAACTCCTCAGTGGCCC	0.537																																						uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(469-471)TCC>TCG		ADAM metallopeptidase with thrombospondin type 1							89.0	88.0	88.0					5																	5146538		1927	4138	6065	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146538C>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.471C>G	5.37:g.5146538C>G						ADAMTS16_uc003jdk.1_Silent_p.S157S|ADAMTS16_uc003jdj.1_Silent_p.S157S	p.S157S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	609	+			157					C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.471C>G	CCDS43299.1																																																																																				PASS	0.537	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		21	150	21	150	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5209307	5209307	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:5209307G>T	ENST00000274181.7	+	10	1691	c.1553G>T	c.(1552-1554)tGc>tTc	p.C518F	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.C518F	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	518	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C518F(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AACACACAGTGCAAGTGGCAG	0.443																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1552-1554)TGC>TTC		ADAM metallopeptidase with thrombospondin type 1							137.0	132.0	133.0					5																	5209307		1940	4151	6091	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5209307G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1553G>T	5.37:g.5209307G>T	ENSP00000274181:p.Cys518Phe					ADAMTS16_uc003jdk.1_Missense_Mutation_p.C518F|ADAMTS16_uc003jdj.1_Missense_Mutation_p.C518F	p.C518F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			10	1691	+			518			Disintegrin.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1553G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517790	0.85495	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.82893	-1.66;-1.66	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	D	0.95518	0.8592	10	0.87932	D	0	.	19.0504	0.93041	0.0:0.0:1.0:0.0	.	518;518;518	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	F	518	ENSP00000274181:C518F;ENSP00000421631:C518F	ENSP00000274181:C518F	C	+	2	0	ADAMTS16	5262307	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.648000	0.91062	2.788000	0.95919	0.650000	0.86243	TGC		PASS	0.443	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		24	138	24	138	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5239838	5239838	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:5239838C>A	ENST00000274181.7	+	16	2461	c.2323C>A	c.(2323-2325)Cgc>Agc	p.R775S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	775	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R775S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCGGAGTATCCGCATCTATGA	0.498																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2323-2325)CGC>AGC		ADAM metallopeptidase with thrombospondin type 1							158.0	147.0	151.0					5																	5239838		1887	4112	5999	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239838C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2323C>A	5.37:g.5239838C>A	ENSP00000274181:p.Arg775Ser					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R775S	p.R775S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2461	+			775			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2323C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691126	0.48097	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50548	0.74	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.131208	0.51477	D	0.000085	T	0.54695	0.1874	M	0.62209	1.925	0.49582	D	0.9998	P;B	0.40970	0.734;0.109	P;B	0.45681	0.49;0.106	T	0.49570	-0.8926	10	0.30078	T	0.28	.	18.2879	0.90120	0.0:1.0:0.0:0.0	.	775;775	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	775	ENSP00000274181:R775S	ENSP00000274181:R775S	R	+	1	0	ADAMTS16	5292838	0.193000	0.23313	0.047000	0.18901	0.849000	0.48306	4.361000	0.59461	2.615000	0.88500	0.655000	0.94253	CGC		PASS	0.498	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		28	172	28	172	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9122846	9122846	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:9122846C>A	ENST00000382496.5	-	14	2368	c.1703G>T	c.(1702-1704)cGc>cTc	p.R568L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	568	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.R568L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTCGCAGGAGCGGGTTCGACA	0.652																																						uc003jek.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1702-1704)CGC>CTC		semaphorin 5A precursor							54.0	58.0	57.0					5																	9122846		2203	4297	6500	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122846C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1703G>T	5.37:g.9122846C>A	ENSP00000371936:p.Arg568Leu						p.R568L	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			14	2415	-			568			Extracellular (Potential).|TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1703G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757183	0.89843	.	.	ENSG00000112902	ENST00000382496	T	0.24538	1.85	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83740	0.0203	10	0.87932	D	0	.	16.0463	0.80724	0.0:1.0:0.0:0.0	.	568	Q13591	SEM5A_HUMAN	L	568	ENSP00000371936:R568L	ENSP00000371936:R568L	R	-	2	0	SEMA5A	9175846	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.601000	0.82783	2.457000	0.83068	0.650000	0.86243	CGC		PASS	0.652	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			41	50	41	50	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21854841	21854841	+	Silent	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:21854841A>G	ENST00000382254.1	-	7	1671	c.585T>C	c.(583-585)agT>agC	p.S195S	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Silent_p.S195S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S195S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGACTCTGGCACTGTTTCCAT	0.408										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(583-585)AGT>AGC		cadherin 12, type 2 preproprotein							122.0	117.0	118.0					5																	21854841		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854841A>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.585T>C	5.37:g.21854841A>G		HNSCC(59;0.17)				CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Silent_p.S195S	p.S195S	NM_004061	NP_004052	P55289	CAD12_HUMAN			4	1043	-			195			Extracellular (Potential).|Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.585T>C	CCDS3890.1																																																																																				PASS	0.408	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		14	70	14	70	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886151	26886151	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:26886151G>T	ENST00000231021.4	-	10	1726	c.1554C>A	c.(1552-1554)ccC>ccA	p.P518P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P518P(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTGACCTCGGGGAGGGTCAT	0.323																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1552-1554)CCC>CCA		cadherin 9, type 2 preproprotein							75.0	85.0	81.0					5																	26886151		2202	4298	6500	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886151G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1554C>A	5.37:g.26886151G>T						CDH9_uc011cnv.1_Silent_p.P111P	p.P518P	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1723	-			518			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1554C>A	CCDS3893.1																																																																																				PASS	0.323	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		24	149	24	149	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31526589	31526589	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:31526589T>C	ENST00000511367.2	-	4	695	c.451A>G	c.(451-453)Atg>Gtg	p.M151V	DROSHA_ENST00000513349.1_Missense_Mutation_p.M151V|DROSHA_ENST00000442743.1_Missense_Mutation_p.M151V|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000344624.3_Missense_Mutation_p.M151V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	151	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.M151V(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGATGAGGCATGGAGGGAGGG	0.577																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)ATG>GTG		ribonuclease III, nuclear isoform 1							19.0	20.0	19.0					5																	31526589		1883	4106	5989	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526589T>C	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.451A>G	5.37:g.31526589T>C	ENSP00000425979:p.Met151Val					RNASEN_uc003jhh.2_Missense_Mutation_p.M151V|RNASEN_uc003jhi.2_Missense_Mutation_p.M151V|RNASEN_uc010iui.1_Missense_Mutation_p.M142V	p.M151V	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			4	810	-			151			Pro-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.451A>G	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	T	0.634	-0.816071	0.02776	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.39406	1.69;1.69;1.11;1.11;1.08	5.12	-6.09	0.02145	.	0.510936	0.21411	N	0.074967	T	0.11110	0.0271	N	0.03608	-0.345	0.21064	N	0.999796	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17992	-1.0351	10	0.17369	T	0.5	-1.9298	1.7009	0.02872	0.1913:0.3589:0.2109:0.2389	.	151;151;151	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	V	151;151;151;151;144;144;151	ENSP00000425979:M151V;ENSP00000339845:M151V;ENSP00000409335:M151V;ENSP00000424161:M151V;ENSP00000430921:M151V	ENSP00000265075:M144V	M	-	1	0	DROSHA	31562346	0.416000	0.25424	0.822000	0.32727	0.817000	0.46193	-0.155000	0.10115	-0.629000	0.05575	0.533000	0.62120	ATG		PASS	0.577	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		14	12	14	12	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33535065	33535065	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:33535065C>G	ENST00000504830.1	-	23	4814	c.4479G>C	c.(4477-4479)aaG>aaC	p.K1493N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1408N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1493	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K1493N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGACAGTCCTCTTCTGAAAGC	0.473										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4477-4479)AAG>AAC		ADAM metallopeptidase with thrombospondin type 1							94.0	90.0	91.0					5																	33535065		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535065C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4479G>C	5.37:g.33535065C>G	ENSP00000422554:p.Lys1493Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.K1408N	p.K1493N	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4642	-			1493			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4479G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542958	0.65198	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53857	0.6;0.6	4.98	1.62	0.23740	.	0.293525	0.37348	N	0.002126	T	0.54598	0.1868	L	0.52823	1.66	0.80722	D	1	D;P	0.57257	0.979;0.954	P;P	0.56563	0.801;0.759	T	0.51020	-0.8758	10	0.44086	T	0.13	.	5.8838	0.18870	0.0:0.621:0.0:0.379	.	1408;1493	P58397-3;P58397	.;ATS12_HUMAN	N	1493;1408	ENSP00000422554:K1493N;ENSP00000344847:K1408N	ENSP00000344847:K1408N	K	-	3	2	ADAMTS12	33570822	0.994000	0.37717	1.000000	0.80357	0.950000	0.60333	0.012000	0.13287	0.591000	0.29711	0.563000	0.77884	AAG		PASS	0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		23	62	23	62	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35861032	35861032	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:35861032C>T	ENST00000303115.3	+	2	290	c.161C>T	c.(160-162)tCa>tTa	p.S54L	IL7R_ENST00000506850.1_Missense_Mutation_p.S54L|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000511982.1_Missense_Mutation_p.S54L|IL7R_ENST00000343305.4_Missense_Mutation_p.S54L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	54					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.S54L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCGCAGCACTCACTGACCTGT	0.458			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|skin(1)	5						c.(160-162)TCA>TTA		interleukin 7 receptor precursor							219.0	198.0	205.0					5																	35861032		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35861032C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.161C>T	5.37:g.35861032C>T	ENSP00000306157:p.Ser54Leu					IL7R_uc011coo.1_Missense_Mutation_p.S54L|IL7R_uc011cop.1_RNA	p.S54L	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		2	250	+	all_lung(31;0.00015)		54			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.161C>T	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992170	0.18966	.	.	ENSG00000168685	ENST00000508941;ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.97	3.07	0.35406	.	0.914697	0.09162	N	0.840027	T	0.46908	0.1417	N	0.02142	-0.665	0.09310	N	1	B;B	0.24092	0.048;0.097	B;B	0.17722	0.006;0.019	T	0.35001	-0.9806	10	0.33940	T	0.23	5.7998	6.8218	0.23861	0.0:0.6707:0.0:0.3293	.	54;54	D6RGV2;P16871	.;IL7RA_HUMAN	L	54	ENSP00000426426:S54L;ENSP00000306157:S54L;ENSP00000345819:S54L;ENSP00000421207:S54L;ENSP00000425309:S54L	ENSP00000306157:S54L	S	+	2	0	IL7R	35896789	0.024000	0.19004	0.007000	0.13788	0.488000	0.33401	0.795000	0.26972	0.320000	0.23234	0.655000	0.94253	TCA		PASS	0.458	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			28	186	28	186	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65349907	65349907	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:65349907G>C	ENST00000284037.5	+	21	3150	c.2761G>C	c.(2761-2763)Gat>Cat	p.D921H	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D921H|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D921H|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D917H|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D921H|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D921H|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D921H|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D921H|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D921H	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	921					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.D921H(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACTGTTGTATGATCAACCATT	0.378																																						uc003juk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(2761-2763)GAT>CAT		ERBB2 interacting protein isoform 2							472.0	452.0	459.0					5																	65349907		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349907G>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2761G>C	5.37:g.65349907G>C	ENSP00000284037:p.Asp921His					ERBB2IP_uc003jui.1_Missense_Mutation_p.D921H|ERBB2IP_uc003juj.1_Missense_Mutation_p.D921H|ERBB2IP_uc011cqx.1_Missense_Mutation_p.D921H|ERBB2IP_uc011cqy.1_Missense_Mutation_p.D921H|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.D917H|ERBB2IP_uc003jul.1_Missense_Mutation_p.D917H	p.D921H	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3069	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	921					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.2761G>C	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934686	0.73442	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.62639	0.19;0.22;0.23;0.44;0.01;0.37;0.21;0.26;0.01	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.965;0.999;0.998;0.994;0.999	T	0.74325	-0.3702	10	0.87932	D	0	.	20.6647	0.99678	0.0:0.0:1.0:0.0	.	921;921;921;917;921;921;921	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	H	921;921;921;921;921;921;917;921;921	ENSP00000284037:D921H;ENSP00000370330:D921H;ENSP00000370326:D921H;ENSP00000370323:D921H;ENSP00000370322:D921H;ENSP00000370325:D921H;ENSP00000422766:D917H;ENSP00000426632:D921H;ENSP00000422015:D921H	ENSP00000284037:D921H	D	+	1	0	ERBB2IP	65385663	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.230000	0.95299	2.890000	0.99128	0.655000	0.94253	GAT		PASS	0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		224	443	224	443	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82837411	82837411	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:82837411T>G	ENST00000265077.3	+	8	9154	c.8589T>G	c.(8587-8589)gaT>gaG	p.D2863E	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D1876E|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2863	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.D2863E(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCCCACAGGATTCTTTTAAGG	0.463																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8587-8589)GAT>GAG		versican isoform 1 precursor							79.0	82.0	81.0					5																	82837411		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837411T>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8589T>G	5.37:g.82837411T>G	ENSP00000265077:p.Asp2863Glu					VCAN_uc003kij.3_Missense_Mutation_p.D1876E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D1527E	p.D2863E	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8945	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2863			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8589T>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	3.554	-0.091049	0.07053	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.83914	-1.75;-1.78	4.44	0.595	0.17490	.	1.218100	0.05702	N	0.594359	T	0.56108	0.1963	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52771	-0.8531	10	0.02654	T	1	.	1.4212	0.02313	0.2052:0.1075:0.3785:0.3089	.	1876;2863	P13611-2;P13611	.;CSPG2_HUMAN	E	2863;1876	ENSP00000265077:D2863E;ENSP00000340062:D1876E	ENSP00000265077:D2863E	D	+	3	2	VCAN	82873167	0.000000	0.05858	0.012000	0.15200	0.376000	0.30014	-0.098000	0.11024	0.087000	0.17167	0.533000	0.62120	GAT		PASS	0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		16	40	16	40	---	---	---	---
MCTP1	79772	broad.mit.edu	37	5	94278092	94278092	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:94278092C>A	ENST00000515393.1	-	4	1020	c.1021G>T	c.(1021-1023)Ggc>Tgc	p.G341C	MCTP1_ENST00000312216.8_Missense_Mutation_p.G120C|MCTP1_ENST00000429576.2_Missense_Mutation_p.G120C|MCTP1_ENST00000505208.1_Missense_Mutation_p.G120C	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	341	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G341C(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AAGGCTGAGCCCATAAAGTCA	0.388																																						uc003kkx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1021-1023)GGC>TGC		multiple C2 domains, transmembrane 1 isoform L							122.0	115.0	117.0					5																	94278092		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94278092C>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1021G>T	5.37:g.94278092C>A	ENSP00000424126:p.Gly341Cys					MCTP1_uc003kkv.2_Missense_Mutation_p.G120C|MCTP1_uc003kkw.2_Missense_Mutation_p.G120C|MCTP1_uc003kkz.2_Missense_Mutation_p.G2C	p.G341C	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	4	1021	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	341			C2 1.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1021G>T	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.807020|4.807020	0.90623|0.90623	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000415885;ENST00000507214;ENST00000514780;ENST00000510732|ENST00000503301	D;D;D;D;D;D;D;D;T|.	0.95482|.	-2.62;-2.62;-2.62;-2.62;-3.72;-2.62;-2.62;-2.62;-1.13|.	5.87|5.87	5.87|5.87	0.94306|0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.049917|0.049917	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90947|0.90947	0.7154|0.7154	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.93320|0.93320	0.6692|0.6692	10|6	0.87932|.	D|.	0|.	-12.7085|-12.7085	20.1777|20.1777	0.98189|0.98189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	341;120;120|.	Q6DN14;Q6DN14-3;Q6DN14-2|.	MCTP1_HUMAN;.;.|.	C|V	341;120;120;120;2;120;82;102;101;135|149	ENSP00000424126:G341C;ENSP00000391639:G120C;ENSP00000308957:G120C;ENSP00000423410:G120C;ENSP00000431075:G2C;ENSP00000426438:G120C;ENSP00000424936:G102C;ENSP00000421543:G101C;ENSP00000422219:G135C|.	ENSP00000308957:G120C|.	G|G	-|-	1|2	0|0	MCTP1|MCTP1	94303848|94303848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.187000|6.187000	0.72039|0.72039	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|GGG		PASS	0.388	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		7	24	7	24	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137802653	137802653	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:137802653C>T	ENST00000239938.4	+	2	787	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	172					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S172F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCTCCTCGTCCTCAGCACCA	0.647																																						uc003ldb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)TCC>TTC		early growth response 1							115.0	117.0	116.0					5																	137802653		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802653C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.515C>T	5.37:g.137802653C>T	ENSP00000239938:p.Ser172Phe					EGR1_uc011cyu.1_Intron	p.S172F	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	785	+			172						Missense_Mutation	SNP	ENST00000239938.4	37	c.515C>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046406	0.55110	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.24151	1.87	4.89	4.89	0.63831	.	0.388921	0.28889	N	0.013814	T	0.38983	0.1061	L	0.50333	1.59	0.46542	D	0.99909	P	0.48998	0.918	P	0.52267	0.694	T	0.29458	-1.0011	10	0.87932	D	0	-21.1545	18.0413	0.89319	0.0:1.0:0.0:0.0	.	172	P18146	EGR1_HUMAN	F	172	ENSP00000239938:S172F	ENSP00000239938:S172F	S	+	2	0	EGR1	137830552	0.984000	0.35163	0.949000	0.38748	0.026000	0.11368	4.639000	0.61361	2.251000	0.74343	0.462000	0.41574	TCC		PASS	0.647	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		32	61	32	61	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140562948	140562949	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:140562948_140562949GG>TT	ENST00000361016.2	+	1	1969_1970	c.814_815GG>TT	c.(814-816)GGa>TTa	p.G272L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	272	Cadherin 3. {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.G272*(1)|p.G272L(1)|p.G272V(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTAGACGGCGGAGCCAATGGA	0.49																																						uc003liv.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(1)|pancreas(1)	2						c.(814-816)GGA>TGA|c.(814-816)GGA>GTA		protocadherin beta 16 precursor																																				SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562948G>T|g.chr5:140562949G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	Exception_encountered	5.37:g.140562948_140562949delinsTT	ENSP00000354293:p.Gly272Leu					PCDHB16_uc010jfw.1_Intron	p.G272*|p.G272V	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1969|1970	+			272			Extracellular (Potential).|Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000361016.2	37	c.814G>T|c.815G>T	CCDS4251.1																																																																																				PASS	0.490	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		24|25	42|40	24	40	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169410135	169410135	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:169410135T>A	ENST00000256935.8	+	28	2943	c.2863T>A	c.(2863-2865)Tac>Aac	p.Y955N	FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000540750.1_Missense_Mutation_p.Y16N|DOCK2_ENST00000520908.1_Missense_Mutation_p.Y447N|DOCK2_ENST00000523351.1_3'UTR|FAM196B_ENST00000377365.3_5'Flank	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	955	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.Y955N(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACTCCTTCTACATTGAGAC	0.468																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2863-2865)TAC>AAC		dedicator of cytokinesis 2							187.0	176.0	180.0					5																	169410135		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169410135T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2863T>A	5.37:g.169410135T>A	ENSP00000256935:p.Tyr955Asn					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y447N|FAM196B_uc003mag.2_5'Flank	p.Y955N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		28	2943	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	955			Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2863T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.917828	0.92249	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.68181	-0.31;-0.31;1.88	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.69523	2.12	0.54753	D	0.999985	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.82155	-0.0597	10	0.54805	T	0.06	.	15.0994	0.72262	0.0:0.0:0.0:1.0	.	447;955	E7ERW7;Q92608	.;DOCK2_HUMAN	N	955;447;16	ENSP00000256935:Y955N;ENSP00000429283:Y447N;ENSP00000438827:Y16N	ENSP00000256935:Y955N	Y	+	1	0	DOCK2	169342713	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.143000	0.64826	1.986000	0.57962	0.374000	0.22700	TAC		PASS	0.468	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		16	47	16	47	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638561	176638561	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:176638561G>C	ENST00000439151.2	+	5	3206	c.3161G>C	c.(3160-3162)aGa>aCa	p.R1054T	NSD1_ENST00000361032.4_Missense_Mutation_p.R951T|NSD1_ENST00000354179.4_Missense_Mutation_p.R785T|NSD1_ENST00000347982.4_Missense_Mutation_p.R785T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1054					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1054T(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		GAGCGCAAAAGAAAACTGAAT	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(3160-3162)AGA>ACA		nuclear receptor binding SET domain protein 1							114.0	121.0	118.0					5																	176638561		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638561G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3161G>C	5.37:g.176638561G>C	ENSP00000395929:p.Arg1054Thr	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.R785T|NSD1_uc003mfs.1_Missense_Mutation_p.R951T|NSD1_uc011dfx.1_Missense_Mutation_p.R702T	p.R1054T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3299	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1054					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3161G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825004	0.32237	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94046	-3.24;-3.23;-3.24;-3.34	4.24	4.24	0.50183	.	0.105136	0.42420	D	0.000705	D	0.87164	0.6109	L	0.27053	0.805	0.33586	D	0.600438	P;P;P	0.38922	0.557;0.628;0.651	B;B;B	0.35971	0.215;0.184;0.122	D	0.89384	0.3684	9	.	.	.	.	13.8473	0.63474	0.0:0.0:1.0:0.0	.	785;951;1054	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	785;1054;785;951	ENSP00000346111:R785T;ENSP00000395929:R1054T;ENSP00000343209:R785T;ENSP00000354310:R951T	.	R	+	2	0	NSD1	176571167	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	1.588000	0.36633	2.366000	0.80165	0.563000	0.77884	AGA		PASS	0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		22	61	22	61	---	---	---	---
DBN1	1627	broad.mit.edu	37	5	176884733	176884733	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:176884733G>A	ENST00000309007.5	-	13	2021	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	DBN1_ENST00000393565.1_Missense_Mutation_p.S647L|DBN1_ENST00000393563.4_Missense_Mutation_p.S333L|DBN1_ENST00000292385.5_Missense_Mutation_p.S603L|DBN1_ENST00000512501.1_3'UTR	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	601					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.S603L(1)|p.S601L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			CTCCTCCTGTGATTGACTGAA	0.587											OREG0016462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mgy.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|lung(1)|skin(1)	6						c.(1801-1803)TCA>TTA		drebrin 1 isoform a							91.0	86.0	88.0					5																	176884733		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176884733G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1802C>T	5.37:g.176884733G>A	ENSP00000308532:p.Ser601Leu		OREG0016462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	DBN1_uc011dga.1_Missense_Mutation_p.S333L|DBN1_uc003mgx.2_Missense_Mutation_p.S603L|DBN1_uc010jkn.1_Missense_Mutation_p.S551L	p.S601L	NM_004395	NP_004386	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1974	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	601					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.1802C>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492542	0.84962	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000393563	D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79	5.41	5.41	0.78517	.	0.305630	0.32386	N	0.006175	D	0.98040	0.9354	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.76071	0.987;0.972;0.956	D	0.99900	1.1160	10	0.87932	D	0	-3.7363	17.9529	0.89059	0.0:0.0:1.0:0.0	.	551;601;603	B3KSQ7;Q16643;Q16643-2	.;DREB_HUMAN;.	L	601;603;647;333	ENSP00000308532:S601L;ENSP00000292385:S603L;ENSP00000377195:S647L;ENSP00000377193:S333L	ENSP00000292385:S603L	S	-	2	0	DBN1	176817339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.628000	0.90979	2.534000	0.85438	0.561000	0.74099	TCA		PASS	0.587	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		7	27	7	27	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178410091	178410091	+	Silent	SNP	G	G	T	rs376987111		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:178410091G>T	ENST00000517717.1	-	10	2294	c.2256C>A	c.(2254-2256)atC>atA	p.I752I	GRM6_ENST00000231188.5_Silent_p.I752I|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	752					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.I752I(2)		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)		CCAGGCAGCCGATGAGAGACA	0.632																																						uc003mjr.2																			2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(2254-2256)ATC>ATA		glutamate receptor, metabotropic 6 precursor							109.0	93.0	98.0					5																	178410091		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410091G>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.2256C>A	5.37:g.178410091G>T						GRM6_uc003mjq.2_Silent_p.I155I	p.I752I	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)	9	2435	-	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)	752			Helical; Name=5; (Potential).			Silent	SNP	ENST00000517717.1	37	c.2256C>A	CCDS4442.1																																																																																				PASS	0.632	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			6	57	6	57	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178559295	178559295	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr5:178559295A>T	ENST00000251582.7	-	15	2327	c.2226T>A	c.(2224-2226)ttT>ttA	p.F742L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	742	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F742L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGGGATCTCAAACATCTTGA	0.537																																						uc003mjw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2224-2226)TTT>TTA		ADAM metallopeptidase with thrombospondin type 1							107.0	100.0	102.0					5																	178559295		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178559295A>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2226T>A	5.37:g.178559295A>T	ENSP00000251582:p.Phe742Leu						p.F742L	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	15	2226	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	742			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2226T>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071798	0.36566	.	.	ENSG00000087116	ENST00000251582	T	0.47177	0.85	5.33	1.56	0.23342	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000034	T	0.32556	0.0833	L	0.34521	1.04	0.80722	D	1	B	0.19935	0.04	B	0.24269	0.052	T	0.06041	-1.0849	10	0.23302	T	0.38	.	8.631	0.33919	0.7747:0.0:0.2253:0.0	.	742	O95450	ATS2_HUMAN	L	742	ENSP00000251582:F742L	ENSP00000251582:F742L	F	-	3	2	ADAMTS2	178491901	0.993000	0.37304	0.999000	0.59377	0.664000	0.39144	0.890000	0.28295	0.035000	0.15519	0.459000	0.35465	TTT		PASS	0.537	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	26	4	26	---	---	---	---
BPHL	670	broad.mit.edu	37	6	3127490	3127490	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:3127490G>A	ENST00000380379.5	+	3	275	c.226G>A	c.(226-228)Gat>Aat	p.D76N	BPHL_ENST00000380375.3_Missense_Mutation_p.D59N|BPHL_ENST00000434640.1_Missense_Mutation_p.D59N|BPHL_ENST00000380368.2_Missense_Mutation_p.D59N	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	76					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.D59N(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGGAGAGACTGATTTTGGACC	0.463																																						uc003mva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GAT>AAT		biphenyl hydrolase-like precursor							117.0	113.0	115.0					6																	3127490		2203	4300	6503	SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3127490G>A	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.226G>A	6.37:g.3127490G>A	ENSP00000369739:p.Asp76Asn					BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.D59N	p.D76N	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN			3	275	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	76					Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	c.226G>A	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	31	5.103011	0.94245	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.60791	-0.7193	10	0.18710	T	0.47	-15.0117	19.6069	0.95585	0.0:0.0:1.0:0.0	.	76;59	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	N	59;59;59;76	ENSP00000390472:D59N;ENSP00000369734:D59N;ENSP00000369726:D59N;ENSP00000369739:D76N	ENSP00000369726:D59N	D	+	1	0	BPHL	3072489	1.000000	0.71417	0.992000	0.48379	0.850000	0.48378	9.015000	0.93640	2.706000	0.92434	0.655000	0.94253	GAT		PASS	0.463	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			14	38	14	38	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24596652	24596652	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:24596652G>T	ENST00000378214.3	-	3	774	c.250C>A	c.(250-252)Cac>Aac	p.H84N	KIAA0319_ENST00000430948.2_Missense_Mutation_p.H39N|KIAA0319_ENST00000535378.1_Missense_Mutation_p.H75N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.H84N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.H84N	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	84	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H84N(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTCTCTTTGTGGGGGCAGCTC	0.602																																						uc011djo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(250-252)CAC>AAC		KIAA0319 precursor							48.0	54.0	52.0					6																	24596652		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596652G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.250C>A	6.37:g.24596652G>T	ENSP00000367459:p.His84Asn					KIAA0319_uc011djp.1_Missense_Mutation_p.H39N|KIAA0319_uc003neh.1_Missense_Mutation_p.H84N|KIAA0319_uc011djq.1_Missense_Mutation_p.H75N|KIAA0319_uc011djr.1_Missense_Mutation_p.H84N	p.H84N	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	487	-			84			MANSC.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.250C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788983	0.31685	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06528	3.29;3.3;3.31;3.3;3.3	3.9	3.9	0.45041	Seven cysteines (1);Seven cysteines, N-terminal (1);	0.312090	0.26122	N	0.026209	T	0.03178	0.0093	L	0.55481	1.735	0.25598	N	0.986626	P;B;B	0.38504	0.634;0.435;0.309	B;B;B	0.35971	0.215;0.116;0.054	T	0.36792	-0.9733	10	0.25751	T	0.34	-1.9116	16.07	0.80919	0.0:0.0:1.0:0.0	.	84;75;84	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	N	84;75;39;84;84	ENSP00000439700:H84N;ENSP00000442403:H75N;ENSP00000401086:H39N;ENSP00000367459:H84N;ENSP00000437656:H84N	ENSP00000367459:H84N	H	-	1	0	KIAA0319	24704631	0.995000	0.38212	0.003000	0.11579	0.992000	0.81027	7.453000	0.80700	1.983000	0.57843	0.514000	0.50259	CAC		PASS	0.602	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		10	34	10	34	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25581154	25581154	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:25581154G>A	ENST00000329474.6	+	30	3113	c.2745G>A	c.(2743-2745)atG>atA	p.M915I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	915					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.M915I(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATTTCTAGATGACCCCTAAAT	0.388																																						uc011djw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(2743-2745)ATG>ATA		leucine rich repeat containing 16A							64.0	58.0	60.0					6																	25581154		1820	4073	5893	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25581154G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2745G>A	6.37:g.25581154G>A	ENSP00000331983:p.Met915Ile					LRRC16A_uc010jpx.2_Missense_Mutation_p.M915I|LRRC16A_uc010jpy.2_Missense_Mutation_p.M915I	p.M915I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			30	3121	+			915					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2745G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.427109	0.43122	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.50548	0.74	5.78	5.78	0.91487	.	0.118078	0.85682	D	0.000000	T	0.39036	0.1063	L	0.39898	1.24	0.80722	D	1	P;P;P	0.48764	0.777;0.861;0.915	B;B;P	0.48952	0.391;0.391;0.596	T	0.04320	-1.0960	10	0.21014	T	0.42	.	20.0024	0.97423	0.0:0.0:1.0:0.0	.	915;915;915	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	I	915	ENSP00000331983:M915I	ENSP00000331983:M915I	M	+	3	0	LRRC16A	25689133	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	8.738000	0.91569	2.722000	0.93159	0.467000	0.42956	ATG		PASS	0.388	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		7	3	7	3	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911898	29911898	+	Splice_Site	SNP	G	G	A	rs199474608|rs386698554		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:29911898G>A	ENST00000396634.1	+	6	960		c.e6-1		HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376802.2_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTTCCCGTCAGACCCCCCCAA	0.572									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.e4-1		major histocompatibility complex, class I, A							117.0	148.0	137.0					6																	29911898		1505	2709	4214	SO:0001630	splice_region_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911898G>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.620-1G>A	6.37:g.29911898G>A		Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Splice_Site_p.D86_splice|HLA-A_uc003nok.2_Splice_Site_p.D86_splice|HLA-A_uc003non.2_Splice_Site_p.D207_splice|HLA-A_uc003noo.2_Splice_Site_p.D207_splice|HLA-A_uc010jrr.2_Splice_Site_p.D207_splice|HLA-A_uc003nom.2_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.1_Splice_Site_p.D86_splice|HLA-A_uc011dmd.1_Splice_Site_p.D86_splice	p.D207_splice	NM_002116	NP_002107	P30443	1A01_HUMAN			4	620	+								O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	ENST00000396634.1	37	c.620_splice	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	g	12.77	2.037751	0.35989	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30019877	1.000000	0.71417	0.490000	0.27465	0.007000	0.05969	4.772000	0.62324	2.070000	0.61991	0.485000	0.47835	.		PASS	0.572	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	Intron	17	151	17	151	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31599915	31599915	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:31599915C>T	ENST00000376033.2	+	16	3699	c.3465C>T	c.(3463-3465)gcC>gcT	p.A1155A	PRRC2A_ENST00000376007.4_Silent_p.A1155A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1155	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A1155A(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTTCACTGCCCGGGGTGGGC	0.697																																						uc003nvb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(3463-3465)GCC>GCT		HLA-B associated transcript-2							28.0	37.0	34.0					6																	31599915		1508	2705	4213	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31599915C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3465C>T	6.37:g.31599915C>T						BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.A1155A	p.A1155A	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	3714	+			1155			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.3465C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725827	0.15439	.	.	ENSG00000204469	ENST00000424184;ENST00000435052	.	.	.	5.29	3.5	0.40072	.	.	.	.	.	T	0.52549	0.1741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58081	-0.7699	5	0.87932	D	0	-1.8096	8.2018	0.31430	0.0:0.7567:0.1586:0.0847	.	.	.	.	L	1152;1141	.	ENSP00000407986:P1152L	P	+	2	0	PRRC2A	31707894	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	2.274000	0.43390	0.796000	0.33947	0.655000	0.94253	CCC		PASS	0.697	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		4	37	4	37	---	---	---	---
NEU1	4758	broad.mit.edu	37	6	31828012	31828012	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:31828012G>A	ENST00000375631.4	-	5	957	c.828C>T	c.(826-828)gtC>gtT	p.V276V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	276					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.V276V(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GGGCATTGATGACGACTGAGC	0.577																																						uc003nxq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(826-828)GTC>GTT		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)						82.0	65.0	71.0					6																	31828012		1511	2709	4220	SO:0001819	synonymous_variant	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31828012G>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.828C>T	6.37:g.31828012G>A						NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_Intron|NEU1_uc010jth.2_Silent_p.V107V|NEU1_uc003nxs.3_3'UTR	p.V276V	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			5	984	-			276						Silent	SNP	ENST00000375631.4	37	c.828C>T	CCDS4723.1																																																																																				PASS	0.577	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			5	30	5	30	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38941582	38941582	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:38941582T>A	ENST00000359357.3	+	82	12274	c.12020T>A	c.(12019-12021)tTg>tAg	p.L4007*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.L3971*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4007	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L4007*(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						CCAATTACATTGCTTCAGGTT	0.388																																						uc003ooe.1																			2	Substitution - Nonsense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12019-12021)TTG>TAG		dynein, axonemal, heavy polypeptide 8							93.0	93.0	93.0					6																	38941582		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38941582T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12020T>A	6.37:g.38941582T>A	ENSP00000352312:p.Leu4007*					DNAH8_uc003oog.1_Nonsense_Mutation_p.L456*	p.L4007*	NM_001371	NP_001362					82	12620	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.12020T>A		.	.	.	.	.	.	.	.	.	.	T	55	23.845690	0.99957	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.99	5.99	0.97316	.	0.085770	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	.	.	.	X	4212;4007;3971	.	ENSP00000333363:L4212X	L	+	2	0	DNAH8	39049560	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	6.172000	0.71932	2.291000	0.77112	0.533000	0.62120	TTG		PASS	0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	35	6	35	---	---	---	---
CCND3	896	broad.mit.edu	37	6	41903775	41903775	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:41903775G>C	ENST00000372991.4	-	5	980	c.782C>G	c.(781-783)aCc>aGc	p.T261S	CCND3_ENST00000414200.2_Missense_Mutation_p.T189S|CCND3_ENST00000511642.1_Missense_Mutation_p.T180S|CCND3_ENST00000415497.2_Missense_Mutation_p.T65S|CCND3_ENST00000372987.4_Missense_Mutation_p.T211S|CCND3_ENST00000372988.4_Missense_Mutation_p.T180S|CCND3_ENST00000510503.1_Missense_Mutation_p.D134E|CCND3_ENST00000511686.1_5'UTR	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	261					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)	p.T261S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGGAGCTGGTCTGAGAGGC	0.637			T	IGH@	MM																																	uc003orn.2				Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		1	Substitution - Missense(1)		lung(1)		0						c.(781-783)ACC>AGC		cyclin D3 isoform 2							42.0	47.0	45.0					6																	41903775		2203	4300	6503	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41903775G>C		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.782C>G	6.37:g.41903775G>C	ENSP00000362082:p.Thr261Ser					CCND3_uc003orp.2_Missense_Mutation_p.T180S|CCND3_uc011duk.1_Missense_Mutation_p.T65S|CCND3_uc003orm.2_Missense_Mutation_p.T211S|CCND3_uc003oro.2_Missense_Mutation_p.T189S	p.T261S	NM_001760	NP_001751	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	947	-	Colorectal(47;0.121)		261					B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.782C>G	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.327|0.327	-0.958381|-0.958381	0.02267|0.02267	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000510503|ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000415497;ENST00000414200	T|T;T;T;T;T;T	0.42513|0.21191	0.97|3.03;3.03;3.02;3.03;2.02;2.04	5.47|5.47	4.52|4.52	0.55395|0.55395	.|.	.|0.719729	.|0.12882	.|N	.|0.431372	T|T	0.02342|0.02342	0.0072|0.0072	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.0;0.002;0.009	.|B;B;B	.|0.13407	.|0.001;0.003;0.009	T|T	0.40979|0.40979	-0.9534|-0.9534	7|10	0.18710|0.09843	T|T	0.47|0.71	.|.	9.6201|9.6201	0.39716|0.39716	0.0:0.1272:0.6854:0.1874|0.0:0.1272:0.6854:0.1874	.|.	.|189;261;211	.|E9PAS4;P30281;Q5T8J1	.|.;CCND3_HUMAN;.	E|S	134|261;180;211;180;65;189	ENSP00000425986:D134E|ENSP00000362082:T261S;ENSP00000426212:T180S;ENSP00000362078:T211S;ENSP00000362079:T180S;ENSP00000401595:T65S;ENSP00000397545:T189S	ENSP00000425986:D134E|ENSP00000362078:T211S	D|T	-|-	3|2	2|0	CCND3|CCND3	42011753|42011753	0.056000|0.056000	0.20664|0.20664	0.386000|0.386000	0.26170|0.26170	0.573000|0.573000	0.36030|0.36030	2.296000|2.296000	0.43584|0.43584	2.583000|2.583000	0.87209|0.87209	0.467000|0.467000	0.42956|0.42956	GAC|ACC		PASS	0.637	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		4	12	4	12	---	---	---	---
C6orf226	441150	broad.mit.edu	37	6	42858257	42858257	+	Silent	SNP	C	C	G	rs199636430	byFrequency	TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:42858257C>G	ENST00000408925.2	-	1	297	c.270G>C	c.(268-270)gcG>gcC	p.A90A		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	90								p.A90A(2)		lung(2)	2						AAGGCGCAGTCGCTGCCTCAA	0.672																																						uc003osw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(268-270)GCG>GCC		hypothetical protein LOC441150							25.0	30.0	28.0					6																	42858257		1972	4142	6114	SO:0001819	synonymous_variant	441150							g.chr6:42858257C>G	BC051007, BC060325	CCDS43463.1	6p21.1	2009-02-11			ENSG00000221821	ENSG00000221821			34431	protein-coding gene	gene with protein product							Standard	NM_001008739		Approved	LOC441150	uc003osw.3	Q5I0X4	OTTHUMG00000156926	ENST00000408925.2:c.270G>C	6.37:g.42858257C>G							p.A90A	NM_001008739	NP_001008739	Q5I0X4	CF226_HUMAN			1	298	-			90						Silent	SNP	ENST00000408925.2	37	c.270G>C	CCDS43463.1																																																																																				PASS	0.672	C6orf226-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346635.1	NM_001008739		15	33	15	33	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45480080	45480080	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:45480080C>A	ENST00000371438.1	+	6	1315	c.957C>A	c.(955-957)acC>acA	p.T319T	RUNX2_ENST00000541979.1_Silent_p.T387T|RUNX2_ENST00000371436.6_Silent_p.T319T|RUNX2_ENST00000576263.1_Silent_p.T319T|RUNX2_ENST00000371432.3_Silent_p.T305T|RUNX2_ENST00000352853.5_Silent_p.T387T|RUNX2_ENST00000465038.2_Silent_p.T319T|RUNX2_ENST00000359524.5_Silent_p.T305T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	319	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T387T(1)|p.T319T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTCTACCACCCCGCTGTCTT	0.587																																						uc011dvx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(955-957)ACC>ACA		runt-related transcription factor 2 isoform a							120.0	98.0	106.0					6																	45480080		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45480080C>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.957C>A	6.37:g.45480080C>A						RUNX2_uc011dvy.1_Silent_p.T319T|RUNX2_uc003oxt.2_Silent_p.T305T	p.T319T	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			7	1167	+			319			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.957C>A	CCDS43467.2																																																																																				PASS	0.587	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		15	48	15	48	---	---	---	---
IL17F	112744	broad.mit.edu	37	6	52103543	52103543	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:52103543G>T	ENST00000336123.4	-	2	346	c.239C>A	c.(238-240)tCc>tAc	p.S80Y		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	80					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.S80Y(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					ATTCCAGGGGGAGGTGGAGCG	0.418																																						uc003pam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)TCC>TAC		interleukin 17F precursor							66.0	66.0	66.0					6																	52103543		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52103543G>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.239C>A	6.37:g.52103543G>T	ENSP00000337432:p.Ser80Tyr					IL17F_uc003pal.1_Missense_Mutation_p.S26Y	p.S80Y	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			2	310	-	Lung NSC(77;0.116)		80					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.239C>A	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753868	0.69648	.	.	ENSG00000112116	ENST00000336123	T	0.66460	-0.21	5.76	5.76	0.90799	.	0.121926	0.56097	D	0.000030	D	0.83514	0.5271	M	0.91717	3.235	0.44380	D	0.997283	D	0.89917	1.0	D	0.97110	1.0	D	0.86154	0.1589	10	0.87932	D	0	-34.0471	15.8181	0.78621	0.0:0.0:1.0:0.0	.	80	Q96PD4	IL17F_HUMAN	Y	80	ENSP00000337432:S80Y	ENSP00000337432:S80Y	S	-	2	0	IL17F	52211502	1.000000	0.71417	0.976000	0.42696	0.743000	0.42351	5.178000	0.65037	2.879000	0.98667	0.650000	0.86243	TCC		PASS	0.418	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		11	19	11	19	---	---	---	---
CGA	1081	broad.mit.edu	37	6	87796149	87796149	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:87796149C>T	ENST00000369582.2	-	3	192	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	31					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.C31Y(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		GCATTCTGGGCAATCTATCAG	0.473																																						uc003plj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)TGC>TAC		glycoprotein hormones, alpha polypeptide							72.0	78.0	76.0					6																	87796149		2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796149C>T	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.92G>A	6.37:g.87796149C>T	ENSP00000358595:p.Cys31Tyr						p.C31Y	NM_000735	NP_000726	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	193	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	31						Missense_Mutation	SNP	ENST00000369582.2	37	c.92G>A	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940629	0.52972	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78633	-0.2128	9	0.87932	D	0	-18.6602	18.7745	0.91904	0.0:1.0:0.0:0.0	.	31	P01215	GLHA_HUMAN	Y	31	.	ENSP00000358595:C31Y	C	-	2	0	CGA	87852868	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	6.701000	0.74624	2.494000	0.84150	0.585000	0.79938	TGC		PASS	0.473	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		21	51	21	51	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127797194	127797194	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:127797194C>A	ENST00000525778.1	-	6	2722	c.1977G>T	c.(1975-1977)ctG>ctT	p.L659L	SOGA3_ENST00000556132.1_Silent_p.L659L|SOGA3_ENST00000481848.2_Silent_p.L659L|SOGA3_ENST00000368268.2_Silent_p.L659L|SOGA3_ENST00000465909.2_Silent_p.L659L|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	659					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L659L(1)									CGTTCCTCCGCAGCAGCTCCG	0.647																																						uc003qbd.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(1975-1977)CTG>CTT		hypothetical protein LOC387104 precursor							52.0	57.0	55.0					6																	127797194		2187	4288	6475	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127797194C>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1977G>T	6.37:g.127797194C>A						C6orf174_uc003qbc.2_5'Flank	p.L659L	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	2842	-			659			Potential.			Silent	SNP	ENST00000525778.1	37	c.1977G>T	CCDS43505.1																																																																																				PASS	0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		17	26	17	26	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129828633	129828633	+	Splice_Site	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:129828633G>A	ENST00000421865.2	+	62	8752		c.e62-1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.?(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAATGTTTAGGTGACCTATA	0.458																																						uc003qbn.2																			1	Unknown(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.e61-1		laminin alpha 2 subunit isoform a precursor							99.0	92.0	94.0					6																	129828633		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129828633G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8704-1G>A	6.37:g.129828633G>A						LAMA2_uc003qbo.2_Splice_Site_p.V2898_splice|uc003qbq.2_Intron	p.V2902_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	61	8809	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37	c.8704_splice	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839977	0.51057	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7806	0.91930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129870326	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.842000	0.86851	2.450000	0.82876	0.491000	0.48974	.		PASS	0.458	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	17	55	17	55	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133783575	133783575	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:133783575C>A	ENST00000367895.5	+	8	1004	c.540C>A	c.(538-540)gcC>gcA	p.A180A	EYA4_ENST00000525849.1_Silent_p.A157A|EYA4_ENST00000430974.2_Silent_p.A126A|EYA4_ENST00000355167.3_Silent_p.A180A|EYA4_ENST00000452339.2_Silent_p.A126A|EYA4_ENST00000431403.2_Silent_p.A180A|EYA4_ENST00000531901.1_Silent_p.A180A|EYA4_ENST00000355286.6_Silent_p.A157A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	180					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.A180A(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTACACAGCCTACTCACAGA	0.502																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)	2						c.(538-540)GCC>GCA		eyes absent 4 isoform a							160.0	138.0	145.0					6																	133783575		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783575C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.540C>A	6.37:g.133783575C>A						EYA4_uc011ecq.1_Silent_p.A126A|EYA4_uc011ecr.1_Silent_p.A126A|EYA4_uc003qed.3_Silent_p.A180A|EYA4_uc003qee.3_Silent_p.A157A|EYA4_uc011ecs.1_Silent_p.A180A|uc003qef.1_Intron	p.A180A	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	8	998	+	Colorectal(23;0.221)		180					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.540C>A	CCDS5165.1																																																																																				PASS	0.502	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		38	39	38	39	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136582558	136582558	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:136582558T>C	ENST00000531224.1	-	12	2854	c.2602A>G	c.(2602-2604)Act>Gct	p.T868A	BCLAF1_ENST00000527759.1_Missense_Mutation_p.T866A|BCLAF1_ENST00000392348.2_Missense_Mutation_p.T817A|BCLAF1_ENST00000353331.4_Missense_Mutation_p.T817A|BCLAF1_ENST00000527536.1_Missense_Mutation_p.T819A|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T695A|BCLAF1_ENST00000031135.9_Missense_Mutation_p.T86A|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	868					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T868A(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGTTGAAAAGTACCACGACCT	0.413																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2602-2604)ACT>GCT		BCL2-associated transcription factor 1 isoform							216.0	215.0	216.0					6																	136582558		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582558T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2602A>G	6.37:g.136582558T>C	ENSP00000435210:p.Thr868Ala					BCLAF1_uc011edb.1_Missense_Mutation_p.T147A|BCLAF1_uc003qgw.1_Missense_Mutation_p.T695A|BCLAF1_uc003qgy.1_Missense_Mutation_p.T817A|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.T866A	p.T868A	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2855	-	Colorectal(23;0.24)		868					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2602A>G	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.025|3.025	-0.200909|-0.200909	0.06219|0.06219	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.41065|.	3.06;3.01;3.01;2.61;3.06;1.01;3.01|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.08118|0.08118	0|0	0.34211|0.34211	D|D	0.674326|0.674326	B;P;B;B;B|.	0.42871|.	0.135;0.792;0.135;0.135;0.135|.	B;P;B;B;B|.	0.45881|.	0.04;0.496;0.04;0.04;0.157|.	T|T	0.18618|0.18618	-1.0331|-1.0331	10|5	0.16896|.	T|.	0.51|.	-14.1912|-14.1912	15.604|15.604	0.76649|0.76649	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	866;147;817;868;695|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	A|C	868;817;819;695;866;86;817|134	ENSP00000435210:T868A;ENSP00000229446:T817A;ENSP00000435441:T819A;ENSP00000436501:T695A;ENSP00000434826:T866A;ENSP00000031135:T86A;ENSP00000376159:T817A|.	ENSP00000031135:T86A|.	T|Y	-|-	1|2	0|0	BCLAF1|BCLAF1	136624251|136624251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.775000|4.775000	0.62346|0.62346	2.086000|2.086000	0.62901|0.62901	0.533000|0.533000	0.62120|0.62120	ACT|TAC		PASS	0.413	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		28	260	28	260	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138584068	138584068	+	Missense_Mutation	SNP	G	G	A	rs370751967		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:138584068G>A	ENST00000251691.4	+	12	1614	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q		NM_020340.4	NP_065073.3			KIAA1244									p.R412Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGCTGGCAGCGGCGAGTGCTG	0.592																																						uc003qhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1447-1449)CGG>CAG		brefeldin A-inhibited guanine		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	50.0	56.0		1448	5.5	1.0	6		56	0,8600		0,0,4300	no	missense	KIAA1244	NM_020340.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	483/2178	138584068	1,13005	2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584068G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1448G>A	6.37:g.138584068G>A	ENSP00000251691:p.Arg483Gln						p.R483Q	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1448	+	Breast(32;0.135)		483						Missense_Mutation	SNP	ENST00000251691.4	37	c.1448G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	30	5.055977	0.93793	2.27E-4	0.0	ENSG00000112379	ENST00000251691	T	0.21932	1.98	5.52	5.52	0.82312	.	0.060968	0.64402	D	0.000006	T	0.27832	0.0685	L	0.29908	0.895	0.50467	D	0.99987	D	0.76494	0.999	D	0.72625	0.978	T	0.03000	-1.1084	10	0.49607	T	0.09	-30.3286	19.4331	0.94779	0.0:0.0:1.0:0.0	.	483	Q5TH69	BIG3_HUMAN	Q	483	ENSP00000251691:R483Q	ENSP00000251691:R483Q	R	+	2	0	KIAA1244	138625761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.496000	0.97967	2.582000	0.87167	0.655000	0.94253	CGG		PASS	0.592	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		3	2	3	2	---	---	---	---
VTA1	51534	broad.mit.edu	37	6	142491526	142491526	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:142491526G>T	ENST00000367630.4	+	4	437	c.379G>T	c.(379-381)Gtc>Ttc	p.V127F	VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Missense_Mutation_p.V69F|VTA1_ENST00000367621.1_Missense_Mutation_p.V69F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	127	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.V127F(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTTGATAGATGTCATAACAGT	0.313																																						uc003qiw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)GTC>TTC		Vps20-associated 1 homolog							133.0	146.0	142.0					6																	142491526		2203	4294	6497	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142491526G>T	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.379G>T	6.37:g.142491526G>T	ENSP00000356602:p.Val127Phe					VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Missense_Mutation_p.V69F	p.V127F	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	4	394	+	Breast(32;0.155)		127			Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.379G>T	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168501	0.78339	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.53423	0.62;0.62;0.62	5.18	5.18	0.71444	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.180616	0.48286	D	0.000182	T	0.67211	0.2869	M	0.89715	3.055	0.54753	D	0.99998	D;D	0.76494	0.996;0.999	D;D	0.78314	0.991;0.987	T	0.74627	-0.3602	10	0.87932	D	0	-8.0949	12.1096	0.53831	0.0785:0.0:0.9215:0.0	.	69;127	E7ETQ7;Q9NP79	.;VTA1_HUMAN	F	127;69;69;128	ENSP00000356602:V127F;ENSP00000356593:V69F;ENSP00000395767:V69F	ENSP00000356593:V69F	V	+	1	0	VTA1	142533219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.389000	0.79806	2.397000	0.81536	0.650000	0.86243	GTC		PASS	0.313	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		63	63	63	63	---	---	---	---
ULBP1	80329	broad.mit.edu	37	6	150291161	150291161	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr6:150291161C>G	ENST00000229708.3	+	4	678	c.635C>G	c.(634-636)tCt>tGt	p.S212C		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	212					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.S212C(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GAACCACCCTCTCTGGCCCCA	0.562																																						uc003qnp.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(634-636)TCT>TGT		UL16 binding protein 1 precursor							120.0	98.0	105.0					6																	150291161		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150291161C>G	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.635C>G	6.37:g.150291161C>G	ENSP00000229708:p.Ser212Cys						p.S212C	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	4	678	+		Ovarian(120;0.0907)	212					Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.635C>G	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	c	10.92	1.488422	0.26686	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.00832	5.64;5.64	1.87	0.941	0.19519	.	.	.	.	.	T	0.00440	0.0014	N	0.14661	0.345	0.09310	N	1	P	0.51351	0.944	P	0.51193	0.662	T	0.54166	-0.8334	9	0.87932	D	0	.	6.0605	0.19835	0.0:0.6732:0.3268:0.0	.	212	Q9BZM6	N2DL1_HUMAN	C	212	ENSP00000356314:S212C;ENSP00000229708:S212C	ENSP00000229708:S212C	S	+	2	0	ULBP1	150332854	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.836000	0.04382	0.323000	0.23307	0.460000	0.39030	TCT		PASS	0.562	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			7	5	7	5	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4839816	4839816	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:4839816G>A	ENST00000399583.3	-	13	3155	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L	RADIL_ENST00000538469.1_Silent_p.L750L|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	990	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.L990L(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCGTCGATCAGGCCCATCCCC	0.697																																						uc003snj.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(2968-2970)CTG>TTG		Rap GTPase interactor							19.0	23.0	22.0					7																	4839816		2029	4177	6206	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4839816G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2968C>T	7.37:g.4839816G>A						RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.L495L|RADIL_uc011jwc.1_Silent_p.L750L|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.L286L	p.L990L	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	13	3141	-		Ovarian(82;0.0175)	990			PDZ.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.2968C>T	CCDS43544.1																																																																																				PASS	0.697	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		5	13	5	13	---	---	---	---
NUDCD3	23386	broad.mit.edu	37	7	44432005	44432005	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:44432005T>A	ENST00000355451.7	-	5	1145	c.866A>T	c.(865-867)aAc>aTc	p.N289I	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	289								p.N289I(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GCGCTCCTTGTTGATCTTGTC	0.577																																						uc003tkz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)AAC>ATC		NudC domain containing 3							278.0	240.0	253.0					7																	44432005		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44432005T>A	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.866A>T	7.37:g.44432005T>A	ENSP00000347626:p.Asn289Ile					NUDCD3_uc010kye.2_RNA	p.N289I	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN			5	1052	-			289					Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.866A>T	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892505	0.91889	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.43294	0.95	4.91	4.91	0.64330	HSP20-like chaperone (1);	0.040960	0.85682	D	0.000000	T	0.54255	0.1847	L	0.56280	1.765	0.80722	D	1	D	0.61080	0.989	P	0.57679	0.825	T	0.58364	-0.7649	10	0.72032	D	0.01	-19.7262	14.6447	0.68751	0.0:0.0:0.0:1.0	.	289	Q8IVD9	NUDC3_HUMAN	I	289;45	ENSP00000347626:N289I	ENSP00000345922:N45I	N	-	2	0	NUDCD3	44398530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.567000	0.82357	2.184000	0.69523	0.533000	0.62120	AAC		PASS	0.577	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		22	72	22	72	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72400523	72400523	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:72400523C>A	ENST00000434423.2	+	5	1149	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	POM121_ENST00000257622.4_Missense_Mutation_p.D118E|POM121_ENST00000358357.3_Missense_Mutation_p.D118E|POM121_ENST00000446813.1_Missense_Mutation_p.D118E|POM121_ENST00000395270.1_Missense_Mutation_p.D118E			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	383	Pore side. {ECO:0000255}.|Ser-rich.				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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.D118E(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCTCAGATGACCACTTGAATA	0.468																																						uc003twk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1147-1149)GAC>GAA		nuclear pore membrane protein 121							67.0	74.0	72.0					7																	72400523		2200	4297	6497	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72400523C>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1149C>A	7.37:g.72400523C>A	ENSP00000405562:p.Asp383Glu					POM121_uc003twj.2_Missense_Mutation_p.D118E|POM121_uc010lam.1_Missense_Mutation_p.D118E	p.D383E	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			5	1149	+		Lung NSC(55;0.163)	383			Ser-rich.|Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.1149C>A		.	.	.	.	.	.	.	.	.	.	C	11.80	1.745645	0.30955	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	4.1	1.0	0.19881	.	0.158604	0.29113	N	0.013109	T	0.19248	0.0462	L	0.49350	1.555	0.22745	N	0.998785	D;B	0.76494	0.999;0.355	D;B	0.69142	0.962;0.234	T	0.06250	-1.0837	10	0.29301	T	0.29	.	7.5568	0.27829	0.0:0.67:0.0:0.33	.	118;383	A8MXF9;Q96HA1	.;P121A_HUMAN	E	118;118;118;118;383	ENSP00000393020:D118E;ENSP00000257622:D118E;ENSP00000378687:D118E;ENSP00000351124:D118E;ENSP00000405562:D383E	ENSP00000257622:D118E	D	+	3	2	POM121	72038459	1.000000	0.71417	0.996000	0.52242	0.171000	0.22731	0.713000	0.25794	0.392000	0.25172	-0.384000	0.06662	GAC		PASS	0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			3	93	3	93	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583224	82583224	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:82583224C>A	ENST00000333891.9	-	5	7382	c.7045G>T	c.(7045-7047)Gcc>Tcc	p.A2349S	PCLO_ENST00000423517.2_Missense_Mutation_p.A2349S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A2349S(2)|p.A2280S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTGGAAGGGCTATTACAGAA	0.433																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(7045-7047)GCC>TCC		piccolo isoform 1							77.0	79.0	78.0					7																	82583224		1882	4102	5984	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583224C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7045G>T	7.37:g.82583224C>A	ENSP00000334319:p.Ala2349Ser					PCLO_uc003uhv.2_Missense_Mutation_p.A2349S|PCLO_uc010lec.2_5'Flank	p.A2349S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7334	-			2280						Missense_Mutation	SNP	ENST00000333891.9	37	c.7045G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	2.084	-0.410111	0.04799	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.37	4.3	-0.306	0.12780	.	.	.	.	.	T	0.08846	0.0219	N	0.16478	0.41	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.32025	-0.9922	9	0.87932	D	0	.	2.8501	0.05555	0.0998:0.3369:0.3252:0.2381	.	2349;2349	Q9Y6V0-5;Q9Y6V0-6	.;.	S	2280;2349;2349	ENSP00000334319:A2349S;ENSP00000388393:A2349S	ENSP00000334319:A2349S	A	-	1	0	PCLO	82421160	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.489000	0.06490	-0.318000	0.08665	-1.233000	0.01565	GCC		PASS	0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	51	22	51	---	---	---	---
MTERF1	7978	broad.mit.edu	37	7	91503548	91503548	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:91503548C>G	ENST00000351870.3	-	3	653	c.560G>C	c.(559-561)gGa>gCa	p.G187A	MTERF_ENST00000419292.1_Missense_Mutation_p.G167A|MTERF_ENST00000406735.2_Missense_Mutation_p.G167A|MTERF_ENST00000481516.1_5'Flank	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		187					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.G187A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			ACGGGTCAATCCAACTGAGTA	0.373																																						uc003ulb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GGA>GCA		mitochondrial transcription termination factor							80.0	80.0	80.0					7																	91503548		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503548C>G																												ENST00000351870.3:c.560G>C	7.37:g.91503548C>G	ENSP00000248643:p.Gly187Ala					MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.G187A|MTERF_uc011khm.1_Missense_Mutation_p.G167A|MTERF_uc010leu.1_Missense_Mutation_p.G167A	p.G187A	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	604	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		187					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.560G>C	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535673	0.85812	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.23754	1.89;1.89;1.89	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.54964	-0.8214	10	0.66056	D	0.02	-12.939	17.1025	0.86653	0.0:1.0:0.0:0.0	.	187	Q99551	MTERF_HUMAN	A	167;187;167	ENSP00000414116:G167A;ENSP00000248643:G187A;ENSP00000384986:G167A	ENSP00000248643:G187A	G	-	2	0	MTERF	91341484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.951000	0.56684	2.503000	0.84419	0.591000	0.81541	GGA		PASS	0.373	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			15	34	15	34	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94163055	94163055	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:94163055C>A	ENST00000297273.4	+	7	856	c.569C>A	c.(568-570)tCc>tAc	p.S190Y		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	190						integral component of membrane (GO:0016021)		p.S190Y(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AACATCACCTCCATAGCACCA	0.323																																						uc003uni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(568-570)TCC>TAC		CAS1 domain containing 1 precursor							85.0	86.0	85.0					7																	94163055		2203	4298	6501	SO:0001583	missense	64921					integral to membrane		g.chr7:94163055C>A	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.569C>A	7.37:g.94163055C>A	ENSP00000297273:p.Ser190Tyr					CASD1_uc003unh.2_Missense_Mutation_p.S190Y|CASD1_uc003unj.3_Missense_Mutation_p.S190Y	p.S190Y	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	796	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		190					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.569C>A	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872455	0.91587	.	.	ENSG00000127995	ENST00000447923;ENST00000297273	T	0.17691	2.26	5.27	5.27	0.74061	.	0.109676	0.64402	D	0.000013	T	0.24774	0.0601	N	0.22421	0.69	0.53688	D	0.999977	D;D;D	0.56287	0.975;0.971;0.971	P;P;P	0.55161	0.574;0.77;0.77	T	0.01424	-1.1358	10	0.52906	T	0.07	-20.2748	19.2565	0.93948	0.0:1.0:0.0:0.0	.	190;190;190	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	Y	121;190	ENSP00000297273:S190Y	ENSP00000297273:S190Y	S	+	2	0	CASD1	94000991	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.524000	0.81866	2.619000	0.88677	0.563000	0.77884	TCC		PASS	0.323	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		5	73	5	73	---	---	---	---
ZSCAN25	221785	broad.mit.edu	37	7	99227070	99227070	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:99227070G>T	ENST00000394152.2	+	8	1389	c.1062G>T	c.(1060-1062)ggG>ggT	p.G354G	ZSCAN25_ENST00000334715.3_Silent_p.G354G|ZSCAN25_ENST00000262941.6_Silent_p.G282G|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	354					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G354G(1)									CTGAGTGTGGGAAAGGATTCA	0.587																																						uc003url.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1060-1062)GGG>GGT		zinc finger and SCAN domain containing 25							69.0	62.0	64.0					7																	99227070		2203	4300	6503	SO:0001819	synonymous_variant	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99227070G>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1062G>T	7.37:g.99227070G>T						ZNF498_uc003urm.1_Silent_p.G190G|ZNF498_uc010lge.1_Silent_p.G190G|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Silent_p.G282G|ZNF498_uc003uro.1_Silent_p.G138G	p.G354G	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			8	1389	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		354			C2H2-type 1.		A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	ENST00000394152.2	37	c.1062G>T	CCDS5671.2																																																																																				PASS	0.587	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		10	43	10	43	---	---	---	---
BCAP29	55973	broad.mit.edu	37	7	107224331	107224331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:107224331C>T	ENST00000005259.4	+	3	436	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Nonsense_Mutation_p.Q33*|BCAP29_ENST00000379117.2_Nonsense_Mutation_p.Q33*|BCAP29_ENST00000379119.2_Nonsense_Mutation_p.Q33*|BCAP29_ENST00000465919.1_5'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	33					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q33*(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						TTACAGATGGCAGAAGATTTT	0.264																																						uc003vej.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(97-99)CAG>TAG		B-cell receptor-associated protein BAP29 isoform							108.0	108.0	108.0					7																	107224331		2202	4294	6496	SO:0001587	stop_gained	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107224331C>T		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.97C>T	7.37:g.107224331C>T	ENSP00000005259:p.Gln33*					BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Nonsense_Mutation_p.Q33*|BCAP29_uc011kma.1_Nonsense_Mutation_p.Q33*	p.Q33*	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN			3	436	+			33			Cytoplasmic (Potential).		G5E9L4|O95003	Nonsense_Mutation	SNP	ENST00000005259.4	37	c.97C>T	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	C	36	5.832076	0.97003	.	.	ENSG00000075790	ENST00000005259;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000473124;ENST00000379119	.	.	.	5.75	5.75	0.90469	.	0.284140	0.40302	N	0.001121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.0078	14.7502	0.69519	0.1446:0.8554:0.0:0.0	.	.	.	.	X	33	.	ENSP00000005259:Q33X	Q	+	1	0	BCAP29	107011567	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.431000	0.66507	2.717000	0.92951	0.585000	0.79938	CAG		PASS	0.264	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		14	43	14	43	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127253085	127253085	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:127253085G>C	ENST00000341640.2	-	6	887	c.682C>G	c.(682-684)Cag>Gag	p.Q228E	PAX4_ENST00000338516.3_Missense_Mutation_p.Q236E|PAX4_ENST00000378740.2_Missense_Mutation_p.Q228E|PAX4_ENST00000463946.1_Missense_Mutation_p.Q226E	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	236					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.Q228E(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTGGCAGCTGCATTTCCCAC	0.517																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)CAG>GAG		paired box 4							269.0	193.0	219.0					7																	127253085		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253085G>C		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.682C>G	7.37:g.127253085G>C	ENSP00000339906:p.Gln228Glu					PAX4_uc003vmf.2_Missense_Mutation_p.Q226E|PAX4_uc003vmg.1_Missense_Mutation_p.Q228E|PAX4_uc003vmh.2_Missense_Mutation_p.Q226E	p.Q228E	NM_006193	NP_006184	O43316	PAX4_HUMAN			6	888	-			236					O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.682C>G	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146304	0.57044	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.93763	-3.28;-3.26;-3.14	5.06	5.06	0.68205	Homeodomain-like (1);	2.156640	0.03098	U	0.160646	D	0.92289	0.7554	L	0.55990	1.75	0.28555	N	0.911414	P;B;B;B	0.38195	0.622;0.435;0.304;0.431	B;B;B;B	0.38880	0.164;0.115;0.039;0.284	T	0.80728	-0.1253	10	0.18710	T	0.47	.	12.0611	0.53562	0.0:0.1742:0.8258:0.0	.	228;226;236;226	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	E	228;236;236;226	ENSP00000339906:Q228E;ENSP00000344297:Q236E;ENSP00000451923:Q226E	ENSP00000344297:Q236E	Q	-	1	0	PAX4	127040321	0.970000	0.33590	0.990000	0.47175	0.938000	0.57974	2.755000	0.47540	2.511000	0.84671	0.555000	0.69702	CAG		PASS	0.517	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			7	13	7	13	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128480920	128480920	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:128480920G>C	ENST00000325888.8	+	11	1970	c.1709G>C	c.(1708-1710)gGa>gCa	p.G570A	FLNC_ENST00000346177.6_Missense_Mutation_p.G570A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	570					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.G570A(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGAGGCAGGAGTGCAAAAG	0.627																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1708-1710)GGA>GCA		gamma filamin isoform a							39.0	48.0	45.0					7																	128480920		1965	4142	6107	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480920G>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1709G>C	7.37:g.128480920G>C	ENSP00000327145:p.Gly570Ala					FLNC_uc003voa.3_Missense_Mutation_p.G570A	p.G570A	NM_001458	NP_001449	Q14315	FLNC_HUMAN			11	1918	+			570			Filamin 4.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1709G>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523528	0.85600	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91407	-2.84;-2.84	4.54	4.54	0.55810	Immunoglobulin E-set (1);	0.060100	0.64402	D	0.000003	D	0.94285	0.8164	M	0.71296	2.17	0.53688	D	0.999979	D;D	0.59357	0.982;0.985	P;P	0.62435	0.839;0.902	D	0.95029	0.8167	10	0.72032	D	0.01	.	17.6941	0.88276	0.0:0.0:1.0:0.0	.	570;570	Q14315-2;Q14315	.;FLNC_HUMAN	A	570	ENSP00000327145:G570A;ENSP00000344002:G570A	ENSP00000327145:G570A	G	+	2	0	FLNC	128268156	1.000000	0.71417	0.931000	0.37212	0.988000	0.76386	3.919000	0.56439	2.246000	0.74042	0.491000	0.48974	GGA		PASS	0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	15	6	15	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141750562	141750562	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:141750562G>T	ENST00000549489.2	+	24	2798	c.2703G>T	c.(2701-2703)gaG>gaT	p.E901D	MGAM_ENST00000475668.2_Missense_Mutation_p.E901D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	901	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.E901D(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATTTAATGAGATTAAAATTC	0.388																																						uc003vwy.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2701-2703)GAG>GAT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						70.0	62.0	64.0					7																	141750562		1819	4082	5901	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141750562G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2703G>T	7.37:g.141750562G>T	ENSP00000447378:p.Glu901Asp						p.E901D	NM_004668	NP_004659	O43451	MGA_HUMAN			24	2757	+	Melanoma(164;0.0272)		901			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2703G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	6.030	0.373836	0.11409	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89552	-2.53	5.81	0.71	0.18157	.	0.381500	0.21884	N	0.067699	T	0.77498	0.4139	L	0.43152	1.355	0.28588	N	0.909794	B	0.06786	0.001	B	0.04013	0.001	T	0.57154	-0.7860	10	0.13108	T	0.6	.	0.4307	0.00471	0.2935:0.1304:0.3093:0.2668	.	901	O43451	MGA_HUMAN	D	901;901;778	ENSP00000447378:E901D	ENSP00000316431:E778D	E	+	3	2	MGAM	141397031	0.991000	0.36638	0.738000	0.30950	0.298000	0.27526	0.020000	0.13466	-0.140000	0.11394	0.558000	0.71614	GAG		PASS	0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	30	10	30	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142880888	142880888	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr7:142880888G>T	ENST00000446620.1	+	1	377	c.377G>T	c.(376-378)tGg>tTg	p.W126L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	126					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.W126L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TGTAGCCTGTGGTTTGCTGCC	0.378																																						uc011ksw.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(376-378)TGG>TTG		taste receptor, type 2, member 39							92.0	85.0	87.0					7																	142880888		1832	4090	5922	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142880888G>T	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.377G>T	7.37:g.142880888G>T	ENSP00000405095:p.Trp126Leu						p.W126L	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	377	+	Melanoma(164;0.059)		126			Helical; Name=3; (Potential).		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.377G>T	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142776	0.77888	.	.	ENSG00000236398	ENST00000446620	T	0.07021	3.23	4.76	4.76	0.60689	.	.	.	.	.	T	0.40448	0.1117	M	0.93978	3.48	0.50632	D	0.99988	D	0.89917	1.0	D	0.97110	1.0	T	0.54977	-0.8212	9	0.87932	D	0	.	17.2912	0.87157	0.0:0.0:1.0:0.0	.	126	P59534	T2R39_HUMAN	L	126	ENSP00000405095:W126L	ENSP00000405095:W126L	W	+	2	0	TAS2R39	142591010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.704000	0.61831	2.626000	0.88956	0.650000	0.86243	TGG		PASS	0.378	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		23	73	23	73	---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19677966	19677966	+	Silent	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:19677966A>G	ENST00000397977.3	+	4	776	c.378A>G	c.(376-378)ttA>ttG	p.L126L	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	126					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.L126L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCAACACGTTAGAACGATCAG	0.403																																						uc003wzj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(376-378)TTA>TTG		integrator complex subunit 10							135.0	128.0	130.0					8																	19677966		1911	4130	6041	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19677966A>G	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.378A>G	8.37:g.19677966A>G							p.L126L	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	4	509	+			126					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.378A>G	CCDS6011.2																																																																																				PASS	0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		22	42	22	42	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24298630	24298630	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:24298630C>T	ENST00000175238.6	+	1	92	c.9C>T	c.(7-9)ccC>ccT	p.P3P	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Silent_p.P3P|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.P3P	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P3P(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAATGCTTCCCGGGTGTATAT	0.428																																						uc003xeb.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(7-9)CCC>CCT		a disintegrin and metalloproteinase domain 7							220.0	204.0	209.0					8																	24298630		2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24298630C>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.9C>T	8.37:g.24298630C>T						ADAM7_uc003xea.1_Silent_p.P3P	p.P3P	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	1	122	+		Prostate(55;0.0181)	3					A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.9C>T	CCDS6045.1																																																																																				PASS	0.428	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		20	73	20	73	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25234921	25234921	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:25234921C>T	ENST00000276440.7	+	38	3961	c.3917C>T	c.(3916-3918)tCa>tTa	p.S1306L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1306	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S1306L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAATCATATCATATTTCGAC	0.403																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3916-3918)TCA>TTA		dedicator of cytokinesis 5							94.0	83.0	87.0					8																	25234921		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25234921C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3917C>T	8.37:g.25234921C>T	ENSP00000276440:p.Ser1306Leu					PPP2R2A_uc003xek.2_Missense_Mutation_p.S95L|DOCK5_uc003xei.2_Missense_Mutation_p.S876L|DOCK5_uc003xej.2_RNA	p.S1306L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	38	4054	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1306			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3917C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930822	0.52866	.	.	ENSG00000147459	ENST00000276440	T	0.01854	4.6	5.46	4.59	0.56863	.	0.197005	0.46145	D	0.000302	T	0.04770	0.0129	L	0.40543	1.245	0.37836	D	0.928878	P;B;B	0.45348	0.856;0.009;0.009	P;B;B	0.49708	0.62;0.028;0.028	T	0.52238	-0.8602	10	0.42905	T	0.14	.	14.0063	0.64465	0.0:0.9271:0.0:0.0729	.	95;1296;1306	Q6ZP32;D3DSS6;Q9H7D0	.;.;DOCK5_HUMAN	L	1306	ENSP00000276440:S1306L	ENSP00000276440:S1306L	S	+	2	0	DOCK5	25290838	0.992000	0.36948	0.841000	0.33234	0.829000	0.46940	3.557000	0.53741	1.311000	0.45024	0.650000	0.86243	TCA		PASS	0.403	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		7	16	7	16	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61754539	61754539	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:61754539G>T	ENST00000423902.2	+	21	5257	c.4778G>T	c.(4777-4779)cGt>cTt	p.R1593L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1593					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1593L(4)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGCCACGGCGTCCCCAGGAT	0.483																																						uc003xue.2																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4777-4779)CGT>CTT		chromodomain helicase DNA binding protein 7							68.0	68.0	68.0					8																	61754539		1915	4129	6044	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61754539G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4778G>T	8.37:g.61754539G>T	ENSP00000392028:p.Arg1593Leu						p.R1593L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		21	5255	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1593					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4778G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422336	0.96111	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74632	-0.86	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.78729	0.4329	M	0.75447	2.3	0.80722	D	1	B	0.30068	0.267	B	0.35278	0.199	T	0.76471	-0.2947	10	0.46703	T	0.11	-16.5581	20.054	0.97641	0.0:0.0:1.0:0.0	.	1593	Q9P2D1	CHD7_HUMAN	L	1593	ENSP00000392028:R1593L	ENSP00000307304:R1593L	R	+	2	0	CHD7	61917093	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.952000	0.87827	2.808000	0.96608	0.655000	0.94253	CGT		PASS	0.483	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	8	4	8	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61764685	61764685	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:61764685A>G	ENST00000423902.2	+	29	6252	c.5773A>G	c.(5773-5775)Aaa>Gaa	p.K1925E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1925					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K1925E(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCGCAGCTATAAAAGGCAACA	0.537																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(5773-5775)AAA>GAA		chromodomain helicase DNA binding protein 7							52.0	52.0	52.0					8																	61764685		1893	4100	5993	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61764685A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5773A>G	8.37:g.61764685A>G	ENSP00000392028:p.Lys1925Glu						p.K1925E	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		29	6250	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1925					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5773A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807183	0.90623	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.91011	-2.77	5.38	5.38	0.77491	.	0.065244	0.64402	D	0.000011	D	0.94122	0.8115	M	0.75615	2.305	0.49582	D	0.999803	D	0.55800	0.973	P	0.59424	0.857	D	0.94564	0.7765	10	0.62326	D	0.03	-22.7555	15.691	0.77453	1.0:0.0:0.0:0.0	.	1925	Q9P2D1	CHD7_HUMAN	E	1925	ENSP00000392028:K1925E	ENSP00000307304:K1925E	K	+	1	0	CHD7	61927239	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.976000	0.76135	2.172000	0.68678	0.533000	0.62120	AAA		PASS	0.537	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	23	8	23	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62479831	62479831	+	Missense_Mutation	SNP	C	C	A	rs539672078		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:62479831C>A	ENST00000379454.4	-	17	1383	c.1196G>T	c.(1195-1197)cGt>cTt	p.R399L	ASPH_ENST00000541428.1_Missense_Mutation_p.R370L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	399					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.R399L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GATGGCTCCACGTAGCACCTC	0.498																																						uc003xuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1195-1197)CGT>CTT		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						164.0	147.0	152.0					8																	62479831		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62479831C>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1196G>T	8.37:g.62479831C>A	ENSP00000368767:p.Arg399Leu					ASPH_uc011leg.1_Missense_Mutation_p.R370L|ASPH_uc003xuo.2_Missense_Mutation_p.R380L	p.R399L	NM_004318	NP_004309	Q12797	ASPH_HUMAN			17	1465	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	399			Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1196G>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	3.449	-0.112448	0.06881	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454	T;T	0.49720	0.77;0.77	5.86	1.57	0.23409	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.276775	0.34959	N	0.003550	T	0.16896	0.0406	N	0.01705	-0.755	0.09310	N	0.999995	B;B;B	0.26258	0.12;0.099;0.145	B;B;B	0.23574	0.028;0.035;0.047	T	0.11155	-1.0599	10	0.44086	T	0.13	-7.7144	3.4005	0.07321	0.19:0.3127:0.0:0.4973	.	370;380;399	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	L	380;370;399	ENSP00000437864:R370L;ENSP00000368767:R399L	ENSP00000368767:R399L	R	-	2	0	ASPH	62642385	0.886000	0.30341	0.005000	0.12908	0.033000	0.12548	1.495000	0.35627	0.391000	0.25143	0.655000	0.94253	CGT		PASS	0.498	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		11	44	11	44	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100146912	100146912	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:100146912C>G	ENST00000358544.2	+	9	1370	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	VPS13B_ENST00000395996.1_Missense_Mutation_p.S420C|VPS13B_ENST00000355155.1_Missense_Mutation_p.S420C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S420C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	420					protein transport (GO:0015031)			p.S420C(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAGTAAAATCTAAAGAAGTA	0.264																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1258-1260)TCT>TGT		vacuolar protein sorting 13B isoform 5							62.0	70.0	67.0					8																	100146912		2203	4286	6489	SO:0001583	missense	157680				protein transport			g.chr8:100146912C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1259C>G	8.37:g.100146912C>G	ENSP00000351346:p.Ser420Cys					VPS13B_uc003yiw.2_Missense_Mutation_p.S420C|VPS13B_uc003yit.2_Missense_Mutation_p.S420C|VPS13B_uc003yiu.1_Missense_Mutation_p.S420C|VPS13B_uc003yix.1_5'Flank	p.S420C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		9	1370	+	Breast(36;3.73e-07)		420					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1259C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948492	0.73787	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.79352	-1.26;-0.56;-0.56;-0.27	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	D	0.83166	0.5195	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.996;0.977;0.927	D	0.84354	0.0534	10	0.59425	D	0.04	.	19.5046	0.95110	0.0:1.0:0.0:0.0	.	420;420;420;420	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	C	420	ENSP00000347281:S420C;ENSP00000349685:S420C;ENSP00000351346:S420C;ENSP00000379318:S420C	ENSP00000347281:S420C	S	+	2	0	VPS13B	100216088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.034000	0.76511	2.676000	0.91093	0.585000	0.79938	TCT		PASS	0.264	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		7	32	7	32	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103299699	103299699	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:103299699C>G	ENST00000520539.1	-	37	5525	c.4919G>C	c.(4918-4920)aGa>aCa	p.R1640T	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.R1634T|UBR5_ENST00000220959.4_Missense_Mutation_p.R1640T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1640					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.R1640T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GACAACGCTTCTGCGCCCACT	0.458																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4918-4920)AGA>ACA		ubiquitin protein ligase E3 component n-recognin							205.0	152.0	170.0					8																	103299699		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103299699C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4919G>C	8.37:g.103299699C>G	ENSP00000429084:p.Arg1640Thr					UBR5_uc003yks.1_Missense_Mutation_p.R1640T	p.R1640T	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		37	4952	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1640					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.4919G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398461	0.96030	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.58210	0.36;0.35;0.35	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.58810	1.83	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.63597	0.916;0.916	T	0.70223	-0.4931	10	0.87932	D	0	.	20.3955	0.98984	0.0:1.0:0.0:0.0	.	1634;1640	E7EMW7;O95071	.;UBR5_HUMAN	T	1640;1640;1634	ENSP00000429084:R1640T;ENSP00000220959:R1640T;ENSP00000427819:R1634T	ENSP00000220959:R1640T	R	-	2	0	UBR5	103368875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.830000	0.97506	0.655000	0.94253	AGA		PASS	0.458	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	37	11	37	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126079918	126079918	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:126079918C>G	ENST00000318410.7	-	10	1543	c.1194G>C	c.(1192-1194)caG>caC	p.Q398H	KIAA0196_ENST00000517845.1_Missense_Mutation_p.Q250H	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	398					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.Q398H(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGTTAGAATCTGGTCCTTGA	0.378																																						uc003yrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1192-1194)CAG>CAC		strumpellin							205.0	190.0	195.0					8																	126079918		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126079918C>G		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1194G>C	8.37:g.126079918C>G	ENSP00000318016:p.Gln398His					KIAA0196_uc011lir.1_Missense_Mutation_p.Q250H|KIAA0196_uc003yru.1_5'UTR	p.Q398H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		10	1523	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		398					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.1194G>C	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.56|12.56	1.974366|1.974366	0.34848|0.34848	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.85861|.	-2.04;-2.04|.	5.61|5.61	3.49|3.49	0.39957|0.39957	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59756|0.59756	0.2217|0.2217	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.62365|.	0.991|.	D|.	0.78314|.	0.991|.	T|T	0.57435|0.57435	-0.7812|-0.7812	10|5	0.20046|.	T|.	0.44|.	-16.3705|-16.3705	11.7669|11.7669	0.51935|0.51935	0.0:0.7611:0.0:0.2389|0.0:0.7611:0.0:0.2389	.|.	398|.	Q12768|.	STRUM_HUMAN|.	H|T	398;250|15	ENSP00000318016:Q398H;ENSP00000429676:Q250H|.	ENSP00000318016:Q398H|.	Q|R	-|-	3|2	2|0	KIAA0196|KIAA0196	126149100|126149100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.836000|0.836000	0.27545|0.27545	1.379000|1.379000	0.46325|0.46325	0.491000|0.491000	0.48974|0.48974	CAG|AGA		PASS	0.378	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		7	68	7	68	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126085518	126085518	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:126085518G>C	ENST00000318410.7	-	9	1376	c.1027C>G	c.(1027-1029)Caa>Gaa	p.Q343E	KIAA0196_ENST00000517845.1_Missense_Mutation_p.Q195E	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	343					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.Q343E(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTTAGAAATTGCTGCACTTGA	0.388																																						uc003yrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1027-1029)CAA>GAA		strumpellin							119.0	102.0	107.0					8																	126085518		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126085518G>C		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1027C>G	8.37:g.126085518G>C	ENSP00000318016:p.Gln343Glu					KIAA0196_uc011lir.1_Missense_Mutation_p.Q195E	p.Q343E	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		9	1356	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		343					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.1027C>G	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619370	0.28801	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.85013	-1.93;-1.93	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	N	0.13003	0.285	0.80722	D	1	P	0.50156	0.932	D	0.64506	0.926	T	0.76607	-0.2897	10	0.02654	T	1	-18.8567	20.6282	0.99521	0.0:0.0:1.0:0.0	.	343	Q12768	STRUM_HUMAN	E	343;195	ENSP00000318016:Q343E;ENSP00000429676:Q195E	ENSP00000318016:Q343E	Q	-	1	0	KIAA0196	126154700	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.751000	0.98889	2.871000	0.98454	0.655000	0.94253	CAA		PASS	0.388	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		27	46	27	46	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133045387	133045387	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:133045387C>T	ENST00000443356.2	-	12	892	c.806G>A	c.(805-807)aGg>aAg	p.R269K	OC90_ENST00000254627.3_Missense_Mutation_p.R253K|OC90_ENST00000603859.1_Missense_Mutation_p.R253K|OC90_ENST00000262283.5_Missense_Mutation_p.R465K			Q02509	OC90_HUMAN	otoconin 90	269					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.R227K(1)|p.R465K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGCTGTAACCCTTGTTGCAAC	0.428																																						uc003ytg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(757-759)AGG>AAG		otoconin 90							50.0	51.0	51.0					8																	133045387		1873	4111	5984	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133045387C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.806G>A	8.37:g.133045387C>T	ENSP00000390050:p.Arg269Lys					OC90_uc011lix.1_Missense_Mutation_p.R253K	p.R253K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		10	758	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		269					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.758G>A		.	.	.	.	.	.	.	.	.	.	C	4.650	0.120765	0.08881	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.28895	1.62;1.61;1.59	0.235	0.235	0.15431	.	5.524910	0.03175	U	0.171237	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20273	-1.0280	9	0.38643	T	0.18	.	.	.	.	.	253;269	Q02509-2;Q02509	.;OC90_HUMAN	K	253;269;465	ENSP00000254627:R253K;ENSP00000390050:R269K;ENSP00000262283:R465K	ENSP00000254627:R253K	R	-	2	0	RP11-240B13.2;OC90	133114569	0.005000	0.15991	0.002000	0.10522	0.075000	0.17131	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	AGG		PASS	0.428	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		3	11	3	11	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139153476	139153476	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:139153476C>A	ENST00000395297.1	-	17	3925	c.3755G>T	c.(3754-3756)gGa>gTa	p.G1252V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1252								p.G1252V(2)|p.G1252E(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)			GTACAGGGTTCCCAGGTGAGG	0.537										HNSCC(54;0.14)																												uc003yuy.2																			4	Substitution - Missense(4)		NS(2)|lung(2)	ovary(7)|skin(2)	9						c.(3754-3756)GGA>GTA		hypothetical protein LOC51059							127.0	136.0	133.0					8																	139153476		1950	4134	6084	SO:0001583	missense	51059							g.chr8:139153476C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3755G>T	8.37:g.139153476C>A	ENSP00000378710:p.Gly1252Val	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G1153V|FAM135B_uc003yuz.2_RNA	p.G1252V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		17	3926	-	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)		1252					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3755G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046410	0.93740	.	.	ENSG00000147724	ENST00000395297	D	0.86030	-2.06	5.83	5.83	0.93111	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	D	0.95277	0.8468	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96222	0.9161	10	0.87932	D	0	-24.0461	19.1034	0.93283	0.0:1.0:0.0:0.0	.	1252	Q49AJ0	F135B_HUMAN	V	1252	ENSP00000378710:G1252V	ENSP00000378710:G1252V	G	-	2	0	FAM135B	139222658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.750000	0.94351	0.655000	0.94253	GGA		PASS	0.537	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		9	32	9	32	---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146015201	146015201	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr8:146015201C>T	ENST00000262584.3	-	6	994	c.762G>A	c.(760-762)gaG>gaA	p.E254E	RPL8_ENST00000528957.1_Silent_p.E254E|ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank|RPL8_ENST00000394920.2_Silent_p.E254E|RPL8_ENST00000527914.1_Silent_p.E145E	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	254					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.E254E(1)		kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		AGTTCTCTTTCTCCTGCACAG	0.597																																						uc003zeb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(760-762)GAG>GAA		ribosomal protein L8							146.0	150.0	149.0					8																	146015201		2203	4300	6503	SO:0001819	synonymous_variant	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146015201C>T	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.762G>A	8.37:g.146015201C>T						RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.E218E|RPL8_uc003zec.2_Silent_p.E254E	p.E254E	NM_033301	NP_150644	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	6	873	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		254					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	ENST00000262584.3	37	c.762G>A	CCDS6433.1																																																																																				PASS	0.597	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		44	200	44	200	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5921399	5921399	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:5921399G>C	ENST00000399933.3	-	8	4596	c.4597C>G	c.(4597-4599)Cct>Gct	p.P1533A	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1503A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1533								p.P708A(1)|p.P1533A(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGCAATGGAGGAGGAAGAGTT	0.403																																						uc003zjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(4597-4599)CCT>GCT		hypothetical protein LOC158358							196.0	185.0	188.0					9																	5921399		1875	4116	5991	SO:0001583	missense	158358							g.chr9:5921399G>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4597C>G	9.37:g.5921399G>C	ENSP00000382815:p.Pro1533Ala					KIAA2026_uc010mht.2_Missense_Mutation_p.P708A	p.P1533A	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4813	-		Acute lymphoblastic leukemia(23;0.158)	1533					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.4597C>G		.	.	.	.	.	.	.	.	.	.	G	2.468	-0.322543	0.05350	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.85	-1.41	0.08941	.	0.705175	0.13162	N	0.409012	T	0.27731	0.0682	N	0.24115	0.695	0.09310	N	0.999991	B	0.12630	0.006	B	0.10450	0.005	T	0.19353	-1.0308	9	0.59425	D	0.04	0.9032	11.5528	0.50731	0.6303:0.0:0.3697:0.0	.	1533	Q5HYC2	K2026_HUMAN	A	1533;1503	.	ENSP00000370870:P1503A	P	-	1	0	KIAA2026	5911399	0.996000	0.38824	0.150000	0.22450	0.845000	0.48019	0.590000	0.23954	-0.500000	0.06614	0.484000	0.47621	CCT		PASS	0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	173	4	173	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8317909	8317909	+	Missense_Mutation	SNP	C	C	G	rs139384612		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:8317909C>G	ENST00000381196.4	-	43	6247	c.5704G>C	c.(5704-5706)Gag>Cag	p.E1902Q	PTPRD_ENST00000397617.3_Missense_Mutation_p.E1495Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1902Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1902Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1495Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1492Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1492Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1889Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1880Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1496Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1495Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1902	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1902Q(2)|p.E1496Q(1)|p.E1373Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCAGGTACTCTAGTGCGGCA	0.438										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5704-5706)GAG>CAG		protein tyrosine phosphatase, receptor type, D		C	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,4406		0,0,2203	138.0	143.0	141.0		4474,4483,5704,4483,4486,4456	6.1	1.0	9	dbSNP_134	141	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense,missense	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	29,29,29,29,29,29	0,1,6501	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1492/1503,1495/1506,1902/1913,1495/1506,1496/1507,1486/1497	8317909	1,13003	2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8317909C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5704G>C	9.37:g.8317909C>G	ENSP00000370593:p.Glu1902Gln	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.E1496Q|PTPRD_uc003zkq.2_Missense_Mutation_p.E1495Q|PTPRD_uc003zkr.2_Missense_Mutation_p.E1486Q|PTPRD_uc003zks.2_Missense_Mutation_p.E1495Q|PTPRD_uc003zkl.2_Missense_Mutation_p.E1893Q|PTPRD_uc003zkm.2_Missense_Mutation_p.E1889Q|PTPRD_uc003zkn.2_Missense_Mutation_p.E1491Q|PTPRD_uc003zko.2_Missense_Mutation_p.E1492Q	p.E1902Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	45	6415	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1902			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5704G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922192	0.52653	0.0	1.16E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	M	0.89658	3.05	0.80722	D	1	D;D;D;D;P;D;D;D;D	0.76494	0.987;0.987;0.987;0.987;0.857;0.983;0.996;0.999;0.998	D;D;D;D;P;D;D;D;D	0.85130	0.968;0.968;0.968;0.968;0.484;0.946;0.964;0.997;0.966	D	0.94365	0.7591	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1495;1486;1495;1496;1492;1492;1889;1902;1902	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1902;1902;1889;1880;1496;1495;1492;1492;1373;1902;1495;1495	ENSP00000370593:E1902Q;ENSP00000348812:E1902Q;ENSP00000353187:E1889Q;ENSP00000351293:E1880Q;ENSP00000347373:E1496Q;ENSP00000380741:E1495Q;ENSP00000380735:E1492Q;ENSP00000440515:E1492Q;ENSP00000438164:E1902Q;ENSP00000417093:E1495Q;ENSP00000380731:E1495Q	ENSP00000340918:E1373Q	E	-	1	0	PTPRD	8307909	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			37	57	37	57	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14788993	14788993	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:14788993G>A	ENST00000380880.3	-	23	4884	c.4101C>T	c.(4099-4101)ttC>ttT	p.F1367F	FREM1_ENST00000380881.4_Silent_p.F1368F|FREM1_ENST00000422223.2_Silent_p.F1367F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1367					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.F1368F(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGTAGAAGGTGAAGCTATCTT	0.483																																						uc003zlm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(4099-4101)TTC>TTT		FRAS1 related extracellular matrix 1 precursor							116.0	117.0	117.0					9																	14788993		1964	4143	6107	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14788993G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4101C>T	9.37:g.14788993G>A						FREM1_uc010mic.2_Intron	p.F1367F	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	23	4691	-			1367			CSPG 9.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4101C>T	CCDS47952.1																																																																																				PASS	0.483	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		5	5	5	5	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045721	35045721	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:35045721G>T	ENST00000312292.5	+	2	3142	c.3095G>T	c.(3094-3096)cGc>cTc	p.R1032L	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.R959L|C9orf131_ENST00000421362.2_Missense_Mutation_p.R984L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1032								p.R1032L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTGACCCCTCGCCACTGTAAG	0.562																																						uc003zvw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3094-3096)CGC>CTC		hypothetical protein LOC138724 isoform A							152.0	129.0	137.0					9																	35045721		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045721G>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.3095G>T	9.37:g.35045721G>T	ENSP00000308279:p.Arg1032Leu					C9orf131_uc003zvu.2_Missense_Mutation_p.R984L|C9orf131_uc003zvv.2_Missense_Mutation_p.R959L|C9orf131_uc003zvx.2_Missense_Mutation_p.R997L	p.R1032L	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	3124	+	all_epithelial(49;0.22)		1032					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.3095G>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169733	0.21621	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14766	2.48;2.48;2.48	4.35	-5.99	0.02213	.	2.226690	0.01622	N	0.023098	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22146	0.065;0.065;0.065;0.065	B;B;B;B	0.23275	0.045;0.045;0.045;0.045	T	0.32322	-0.9911	10	0.10111	T	0.7	8.3927	15.6657	0.77227	0.2242:0.0:0.7758:0.0	.	507;1032;959;984	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	L	984;959;1032;507	ENSP00000393683:R984L;ENSP00000346472:R959L;ENSP00000308279:R1032L	ENSP00000308279:R1032L	R	+	2	0	C9orf131	35035721	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-0.754000	0.04787	-1.045000	0.03250	-1.155000	0.01812	CGC		PASS	0.562	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		4	88	4	88	---	---	---	---
CD72	971	broad.mit.edu	37	9	35616043	35616043	+	Silent	SNP	C	C	A	rs560994961		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:35616043C>A	ENST00000396757.1	-	6	749	c.585G>T	c.(583-585)acG>acT	p.T195T	CD72_ENST00000259633.4_Silent_p.T195T|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	195					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)	p.T195T(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTCTCCTTCGTCTTCTGTC	0.582																																						uc003zxb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)ACG>ACT		CD72 molecule							215.0	184.0	194.0					9																	35616043		2203	4300	6503	SO:0001819	synonymous_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35616043C>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.585G>T	9.37:g.35616043C>A						CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Silent_p.T195T|CD72_uc010mkv.2_3'UTR|CD72_uc010mkw.1_RNA	p.T195T	NM_001782	NP_001773	P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	709	-			195			Extracellular (Potential).			Silent	SNP	ENST00000396757.1	37	c.585G>T	CCDS6581.1																																																																																				PASS	0.582	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		39	80	39	80	---	---	---	---
PGM5	5239	broad.mit.edu	37	9	71006545	71006545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:71006545C>T	ENST00000396396.1	+	5	1022	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	PGM5_ENST00000396392.1_Nonsense_Mutation_p.Q265*|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	265					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.Q265*(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTTTGGAGGGCAGCACCCTGA	0.478																																						uc004agr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(793-795)CAG>TAG		phosphoglucomutase 5							58.0	58.0	58.0					9																	71006545		2201	4298	6499	SO:0001587	stop_gained	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71006545C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.793C>T	9.37:g.71006545C>T	ENSP00000379678:p.Gln265*						p.Q265*	NM_021965	NP_068800	Q15124	PGM5_HUMAN			5	1022	+			265					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Nonsense_Mutation	SNP	ENST00000396396.1	37	c.793C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	37	6.063814	0.97251	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	.	.	.	4.92	4.92	0.64577	.	0.069431	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	16.8751	0.86050	0.0:1.0:0.0:0.0	.	.	.	.	X	265;265;216;182	.	ENSP00000366531:Q216X	Q	+	1	0	PGM5	70196365	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.716000	0.84723	2.274000	0.75844	0.555000	0.69702	CAG		PASS	0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		14	27	14	27	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976666	119976666	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:119976666C>A	ENST00000313400.4	-	3	1086	c.986G>T	c.(985-987)gGg>gTg	p.G329V	ASTN2_ENST00000361209.2_Missense_Mutation_p.G329V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G329V			O75129	ASTN2_HUMAN	astrotactin 2	329					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.G329V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTCTCTTCCCCTGGATGTCC	0.567																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(985-987)GGG>GTG		astrotactin 2 isoform c							105.0	108.0	107.0					9																	119976666		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976666C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.986G>T	9.37:g.119976666C>A	ENSP00000314038:p.Gly329Val					ASTN2_uc004bjr.1_Missense_Mutation_p.G329V|ASTN2_uc004bjt.1_Missense_Mutation_p.G329V	p.G329V	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	1087	-			329			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.986G>T		.	.	.	.	.	.	.	.	.	.	C	11.79	1.744239	0.30865	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.11712	2.93;2.93;2.75;2.78	5.16	4.24	0.50183	.	0.317119	0.25912	N	0.027499	T	0.04679	0.0127	N	0.08118	0	0.43065	D	0.994693	P;B;B	0.37276	0.589;0.0;0.0	B;B;B	0.33454	0.164;0.0;0.001	T	0.51364	-0.8715	9	.	.	.	-14.5076	8.2831	0.31913	0.1569:0.7642:0.0:0.0789	.	329;329;329	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	329;329;56;329	ENSP00000314038:G329V;ENSP00000363108:G329V;ENSP00000363098:G56V;ENSP00000354504:G329V	.	G	-	2	0	ASTN2	119016487	0.966000	0.33281	0.993000	0.49108	0.808000	0.45660	3.300000	0.51834	1.132000	0.42129	0.655000	0.94253	GGG		PASS	0.567	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		42	54	42	54	---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130279138	130279138	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:130279138C>G	ENST00000373312.3	-	8	1184	c.971G>C	c.(970-972)cGa>cCa	p.R324P	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R311P	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	324					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R324P(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTGCCTACCTCGGATCTTGCT	0.547																																						uc004brh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)CGA>CCA		hypothetical protein LOC64855 isoform 1							209.0	204.0	206.0					9																	130279138		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130279138C>G	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.971G>C	9.37:g.130279138C>G	ENSP00000362409:p.Arg324Pro					FAM129B_uc004bri.2_Missense_Mutation_p.R311P|FAM129B_uc004brj.3_Missense_Mutation_p.R324P	p.R324P	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			8	1173	-			324					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.971G>C	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112278	0.77210	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.28895	1.59;1.6	4.87	4.87	0.63330	.	0.131978	0.46758	D	0.000280	T	0.53850	0.1822	M	0.65498	2.005	0.42572	D	0.993189	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.58629	-0.7603	10	0.72032	D	0.01	-12.0879	15.5257	0.75901	0.0:1.0:0.0:0.0	.	311;324	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	P	311;324	ENSP00000362411:R311P;ENSP00000362409:R324P	ENSP00000362409:R324P	R	-	2	0	FAM129B	129318959	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.485000	0.66850	2.250000	0.74265	0.655000	0.94253	CGA		PASS	0.547	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		83	252	83	252	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139393419	139393419	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr9:139393419C>A	ENST00000277541.6	-	33	6187	c.6112G>T	c.(6112-6114)Gtg>Ttg	p.V2038L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2038					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V2038L(2)|p.V2039L(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACATTGTTCACGGCGGCGGCC	0.617			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Substitution - Missense(4)	p.V2038L(1)|p.V2039L(1)	upper_aerodigestive_tract(2)|lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(6112-6114)GTG>TTG		notch1 preproprotein							121.0	134.0	130.0					9																	139393419		2077	4197	6274	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393419C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6112G>T	9.37:g.139393419C>A	ENSP00000277541:p.Val2038Leu	HNSCC(8;0.001)					p.V2038L	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	33	6112	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2038			Cytoplasmic (Potential).|ANK 4.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6112G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836684	0.71373	.	.	ENSG00000148400	ENST00000277541	T	0.51817	0.69	4.9	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	N	0.04387	-0.21	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.61549	-0.7040	10	0.52906	T	0.07	.	17.4199	0.87512	0.0:1.0:0.0:0.0	.	2038	P46531	NOTC1_HUMAN	L	2038	ENSP00000277541:V2038L	ENSP00000277541:V2038L	V	-	1	0	NOTCH1	138513240	1.000000	0.71417	0.939000	0.37840	0.046000	0.14306	7.251000	0.78297	2.429000	0.82318	0.561000	0.74099	GTG		PASS	0.617	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		66	75	66	75	---	---	---	---
ATP5C1	509	broad.mit.edu	37	10	7844259	7844259	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:7844259G>T	ENST00000356708.7	+	7	743	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.D175Y|ATP5C1_ENST00000335698.4_Missense_Mutation_p.D222Y	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	222					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.D222Y(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGACGATATTGATGCTGACGT	0.393																																					Melanoma(143;1012 1820 16249 30920 33158)	uc001iju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)GAT>TAT		ATP synthase, H+ transporting, mitochondrial F1							105.0	88.0	94.0					10																	7844259		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7844259G>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.664G>T	10.37:g.7844259G>T	ENSP00000349142:p.Asp222Tyr					ATP5C1_uc009xiq.1_Missense_Mutation_p.D222Y|ATP5C1_uc010qbc.1_Missense_Mutation_p.D173Y|ATP5C1_uc001ijv.2_Missense_Mutation_p.D222Y	p.D222Y	NM_001001973	NP_001001973	P36542	ATPG_HUMAN			7	742	+			222					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.664G>T	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488828	0.84962	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.37	5.37	0.77165	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	D	0.83936	0.5362	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85926	0.1449	9	0.87932	D	0	-23.7984	19.0921	0.93231	0.0:0.0:1.0:0.0	.	222	P36542	ATPG_HUMAN	Y	222;222;175	.	ENSP00000338568:D222Y	D	+	1	0	ATP5C1	7884265	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.751000	0.98889	2.667000	0.90743	0.563000	0.77884	GAT		PASS	0.393	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		3	19	3	19	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17271466	17271466	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:17271466C>A	ENST00000224237.5	+	1	190	c.45C>A	c.(43-45)ttC>ttA	p.F15L	VIM_ENST00000544301.1_Missense_Mutation_p.F15L|VIM_ENST00000485947.1_3'UTR|VIM-AS1_ENST00000605833.1_RNA|VIM-AS1_ENST00000437232.1_RNA			P08670	VIME_HUMAN	vimentin	15	Head.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.F15L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGGATGTTCGGCGGCCCGG	0.741																																						uc001iou.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(43-45)TTC>TTA		vimentin							11.0	11.0	11.0					10																	17271466		2147	4222	6369	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17271466C>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.45C>A	10.37:g.17271466C>A	ENSP00000224237:p.Phe15Leu					uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.F15L|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.F15L|VIM_uc001ioy.1_Missense_Mutation_p.F15L|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.F15L|VIM_uc001ipc.1_Missense_Mutation_p.F15L	p.F15L	NM_003380	NP_003371	P08670	VIME_HUMAN			2	458	+			15			Head.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.45C>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439682	0.83885	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.86694	-2.16;-2.16	4.76	0.747	0.18371	Intermediate filament head, DNA-binding domain (1);	0.000000	0.48767	D	0.000176	D	0.92557	0.7636	M	0.87971	2.92	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999	D;D;D;D;D	0.78314	0.991;0.984;0.991;0.991;0.991	D	0.91295	0.5062	10	0.72032	D	0.01	.	9.6551	0.39921	0.0:0.708:0.0:0.292	.	15;2;2;15;15	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	L	15;15;2	ENSP00000446007:F15L;ENSP00000224237:F15L	ENSP00000224237:F15L	F	+	3	2	VIM	17311472	0.954000	0.32549	1.000000	0.80357	0.977000	0.68977	1.003000	0.29809	0.245000	0.21373	0.448000	0.29417	TTC		PASS	0.741	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		4	13	4	13	---	---	---	---
ABI1	10006	broad.mit.edu	37	10	27112098	27112098	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:27112098C>T	ENST00000376142.2	-	2	325	c.254G>A	c.(253-255)aGa>aAa	p.R85K	ABI1_ENST00000376138.3_Missense_Mutation_p.R85K|ABI1_ENST00000355394.4_Missense_Mutation_p.R85K|ABI1_ENST00000536334.1_Missense_Mutation_p.R85K|ABI1_ENST00000359188.4_Missense_Mutation_p.R85K|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000376139.2_Missense_Mutation_p.R85K|ABI1_ENST00000376166.1_Missense_Mutation_p.R85K|ABI1_ENST00000376134.3_Missense_Mutation_p.R85K|ABI1_ENST00000376170.4_Missense_Mutation_p.R85K|ABI1_ENST00000490841.2_Missense_Mutation_p.R85K|ABI1_ENST00000376140.3_Missense_Mutation_p.R85K|ABI1_ENST00000376160.1_Missense_Mutation_p.R85K|ABI1_ENST00000346832.5_Missense_Mutation_p.R102K|ABI1_ENST00000376137.4_Missense_Mutation_p.R85K	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	85	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)	p.R85K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGACTCCATTCTCCGAAGCTG	0.368																																						uc001isx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(253-255)AGA>AAA		abl-interactor 1 isoform a							123.0	114.0	117.0					10																	27112098		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27112098C>T	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.254G>A	10.37:g.27112098C>T	ENSP00000365312:p.Arg85Lys					ABI1_uc001ite.2_Missense_Mutation_p.R85K|ABI1_uc010qdh.1_Missense_Mutation_p.R85K|ABI1_uc010qdi.1_Missense_Mutation_p.R85K|ABI1_uc001isy.2_Missense_Mutation_p.R85K|ABI1_uc001ita.2_Missense_Mutation_p.R85K|ABI1_uc001isz.2_Missense_Mutation_p.R85K|ABI1_uc001itb.2_Missense_Mutation_p.R102K|ABI1_uc001itc.2_Missense_Mutation_p.R85K|ABI1_uc010qdj.1_Missense_Mutation_p.R85K|ABI1_uc001itd.2_Missense_Mutation_p.R85K|ABI1_uc010qdk.1_Missense_Mutation_p.R85K	p.R85K	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			2	421	-			85			t-SNARE coiled-coil homology.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.254G>A	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473309	0.63737	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.62	5.62	0.85841	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	N	0.02916	-0.46	0.33328	D	0.568234	P;B;P;B;B;B;D;P;B;B;B;B	0.56746	0.581;0.001;0.689;0.002;0.082;0.057;0.977;0.9;0.05;0.134;0.177;0.032	P;B;P;B;B;B;D;D;B;B;B;B	0.74023	0.625;0.004;0.826;0.004;0.042;0.076;0.982;0.935;0.106;0.157;0.238;0.02	D	0.91907	0.5536	10	0.37606	T	0.19	-15.7885	20.024	0.97514	0.0:1.0:0.0:0.0	.	85;85;85;85;85;110;85;102;85;85;85;85	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	K	85;85;85;85;85;85;85;85;102;85;85;85;85;85	ENSP00000365308:R85K;ENSP00000365340:R85K;ENSP00000365336:R85K;ENSP00000365330:R85K;ENSP00000365312:R85K;ENSP00000352114:R85K;ENSP00000365309:R85K;ENSP00000347555:R85K;ENSP00000279599:R102K;ENSP00000365304:R85K;ENSP00000365307:R85K;ENSP00000439646:R85K;ENSP00000440101:R85K;ENSP00000365310:R85K	ENSP00000279599:R102K	R	-	2	0	ABI1	27152104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.983000	0.70540	2.809000	0.96659	0.655000	0.94253	AGA		PASS	0.368	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		25	78	25	78	---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32317465	32317465	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:32317465T>G	ENST00000302418.4	-	15	2073	c.1616A>C	c.(1615-1617)aAa>aCa	p.K539T		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	539					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K539T(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTCCTTAAGTTTCTGAAGCTC	0.353			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3				Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(1615-1617)AAA>ACA		kinesin family member 5B							133.0	126.0	128.0					10																	32317465		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32317465T>G	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1616A>C	10.37:g.32317465T>G	ENSP00000307078:p.Lys539Thr						p.K539T	NM_004521	NP_004512	P33176	KINH_HUMAN			15	2086	-		Prostate(175;0.0137)	539					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1616A>C	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957762	0.53400	.	.	ENSG00000170759	ENST00000302418	T	0.78364	-1.17	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	L	0.29908	0.895	0.58432	D	0.99999	B	0.09022	0.002	B	0.06405	0.002	T	0.62421	-0.6858	10	0.27082	T	0.32	.	15.5863	0.76485	0.0:0.0:0.0:1.0	.	539	P33176	KINH_HUMAN	T	539	ENSP00000307078:K539T	ENSP00000307078:K539T	K	-	2	0	KIF5B	32357471	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.036000	0.64164	2.144000	0.66660	0.459000	0.35465	AAA		PASS	0.353	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		17	65	17	65	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	33015720	33015720	+	Silent	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:33015720A>G	ENST00000375030.2	+	11	1191	c.573A>G	c.(571-573)caA>caG	p.Q191Q	C10orf68_ENST00000375028.3_Silent_p.Q159Q|C10orf68_ENST00000375025.4_Silent_p.Q183Q			Q9H943	CJ068_HUMAN		183								p.Q183Q(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCCAAATGCAAGAAAAGAAAA	0.289																																						uc001iwn.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(547-549)CAA>CAG		chromosome 10 open reading frame 68							49.0	53.0	52.0					10																	33015720		2203	4292	6495	SO:0001819	synonymous_variant	79741							g.chr10:33015720A>G																												ENST00000375030.2:c.573A>G	10.37:g.33015720A>G						C10orf68_uc001iwl.1_Silent_p.Q191Q|C10orf68_uc001iwm.1_Silent_p.Q159Q|C10orf68_uc010qei.1_Silent_p.Q110Q|C10orf68_uc001iwo.3_5'Flank	p.Q183Q	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			8	1022	+			183					B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375030.2	37	c.549A>G																																																																																					PASS	0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			3	20	3	20	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33199357	33199357	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:33199357T>C	ENST00000396033.2	-	14	2093	c.1958A>G	c.(1957-1959)aAt>aGt	p.N653S	ITGB1_ENST00000423113.1_Missense_Mutation_p.N653S|ITGB1_ENST00000302278.3_Missense_Mutation_p.N653S|ITGB1_ENST00000374956.4_Missense_Mutation_p.N653S	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	653					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.N653S(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TTCTCCTTTATTGAAGGCTCT	0.343																																						uc001iws.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1957-1959)AAT>AGT		integrin beta 1 isoform 1A precursor							54.0	55.0	55.0					10																	33199357		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33199357T>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1958A>G	10.37:g.33199357T>C	ENSP00000379350:p.Asn653Ser					ITGB1_uc001iwp.3_Missense_Mutation_p.N653S|ITGB1_uc001iwq.3_Missense_Mutation_p.N653S|ITGB1_uc001iwr.3_Missense_Mutation_p.N653S|ITGB1_uc001iwt.3_Missense_Mutation_p.N653S|ITGB1_uc001iwu.1_Missense_Mutation_p.N653S	p.N653S	NM_133376	NP_596867	P05556	ITB1_HUMAN			14	2094	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	653			Extracellular (Potential).		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1958A>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239824	0.39598	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.64	5.64	0.86602	Integrin beta subunit, tail (2);	0.226724	0.47455	D	0.000226	T	0.79505	0.4457	L	0.50333	1.59	0.27077	N	0.963187	B;B;B;B;B	0.24882	0.023;0.029;0.008;0.113;0.035	B;B;B;B;B	0.20577	0.03;0.03;0.023;0.03;0.03	T	0.70378	-0.4888	10	0.38643	T	0.18	.	15.8682	0.79080	0.0:0.0:0.0:1.0	.	653;653;653;653;653	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	S	653	ENSP00000379350:N653S;ENSP00000388694:N653S;ENSP00000303351:N653S;ENSP00000364094:N653S	ENSP00000303351:N653S	N	-	2	0	ITGB1	33239363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.047000	0.71038	2.160000	0.67779	0.454000	0.30748	AAT		PASS	0.343	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		18	36	18	36	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75277120	75277120	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:75277120G>C	ENST00000339859.4	-	19	3164	c.3064C>G	c.(3064-3066)Caa>Gaa	p.Q1022E	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.Q872E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.Q204E|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.Q110E|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.Q1022E			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1022					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.Q1022E(1)|p.Q110E(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGCTGTTCTTGAGCAATGCCT	0.547																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|lung(2)|kidney(1)	6						c.(3064-3066)CAA>GAA		ubiquitin specific peptidase 54							117.0	118.0	118.0					10																	75277120		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75277120G>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.3064C>G	10.37:g.75277120G>C	ENSP00000345216:p.Gln1022Glu					USP54_uc010qkk.1_Missense_Mutation_p.Q204E|USP54_uc001juk.2_Missense_Mutation_p.Q110E|USP54_uc001jul.2_Missense_Mutation_p.Q110E|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	p.Q1022E	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			18	3081	-	Prostate(51;0.0112)		1022					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.3064C>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284178	0.40394	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.24908	1.91;1.91;1.89;1.84;1.83	6.03	5.1	0.69264	.	.	.	.	.	T	0.19327	0.0464	L	0.47716	1.5	0.80722	D	1	B;B	0.33171	0.4;0.104	B;B	0.33960	0.173;0.039	T	0.02766	-1.1113	9	0.05833	T	0.94	-0.4131	9.8047	0.40786	0.0689:0.0:0.7903:0.1409	.	204;1022	E7EW90;Q70EL1	.;UBP54_HUMAN	E	1022;1022;872;110;204	ENSP00000345216:Q1022E;ENSP00000386080:Q1022E;ENSP00000408714:Q872E;ENSP00000378290:Q110E;ENSP00000407368:Q204E	ENSP00000345216:Q1022E	Q	-	1	0	USP54	74947126	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.705000	0.47127	1.493000	0.48517	0.655000	0.94253	CAA		PASS	0.547	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		14	70	14	70	---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95399935	95399935	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:95399935G>C	ENST00000371447.3	+	12	1729	c.1591G>C	c.(1591-1593)Gaa>Caa	p.E531Q		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	531					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E531Q(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	ACTGTTTTTTGAAATAAATGT	0.418																																						uc001kiu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1591-1593)GAA>CAA		phosphodiesterase 6C							109.0	109.0	109.0					10																	95399935		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95399935G>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1591G>C	10.37:g.95399935G>C	ENSP00000360502:p.Glu531Gln						p.E531Q	NM_006204	NP_006195	P51160	PDE6C_HUMAN			12	1729	+		Colorectal(252;0.123)	531					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1591G>C	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082352	0.76528	.	.	ENSG00000095464	ENST00000371447	T	0.77229	-1.08	4.99	4.99	0.66335	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.048252	0.85682	D	0.000000	D	0.87446	0.6179	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.85761	0.1349	10	0.31617	T	0.26	.	18.4657	0.90753	0.0:0.0:1.0:0.0	.	531	P51160	PDE6C_HUMAN	Q	531	ENSP00000360502:E531Q	ENSP00000360502:E531Q	E	+	1	0	PDE6C	95389925	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.208000	0.95075	2.595000	0.87683	0.563000	0.77884	GAA		PASS	0.418	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		21	71	21	71	---	---	---	---
ENTPD1	953	broad.mit.edu	37	10	97599541	97599541	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:97599541C>G	ENST00000371205.4	+	3	521	c.238C>G	c.(238-240)Caa>Gaa	p.Q80E	ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Q87E|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.Q92E|ENTPD1_ENST00000543964.1_5'UTR|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Intron			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	80					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.Q80E(1)|p.Q80*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CGTGGTGCATCAAGTAGAAGA	0.473																																						uc001klh.3																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.Q80*(1)	ovary(1)|lung(1)	ovary(3)	3						c.(238-240)CAA>GAA		ectonucleoside triphosphate diphosphohydrolase 1							160.0	150.0	153.0					10																	97599541		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97599541C>G	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.238C>G	10.37:g.97599541C>G	ENSP00000360248:p.Gln80Glu					ENTPD1_uc001kle.1_Missense_Mutation_p.Q87E|ENTPD1_uc001kli.3_Missense_Mutation_p.Q87E|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.Q92E|ENTPD1_uc010qok.1_Translation_Start_Site|ENTPD1_uc010qol.1_Translation_Start_Site|ENTPD1_uc010qom.1_Missense_Mutation_p.Q80E|ENTPD1_uc010qon.1_Translation_Start_Site|ENTPD1_uc009xva.2_Intron|ENTPD1_uc009xuz.2_RNA	p.Q80E	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	3	562	+		Colorectal(252;0.0821)	80			Extracellular (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.238C>G	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310150	0.60414	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000371205	T;T;T	0.11385	2.78;2.78;2.78	5.51	4.61	0.57282	.	0.105503	0.64402	N	0.000003	T	0.11580	0.0282	L	0.48174	1.505	0.80722	D	1	P;P;P;P;P	0.39424	0.648;0.595;0.453;0.648;0.673	B;B;B;B;B	0.39503	0.243;0.157;0.116;0.243;0.301	T	0.15521	-1.0434	10	0.18710	T	0.47	-11.3167	13.6343	0.62213	0.0:0.8236:0.1764:0.0	.	92;92;87;80;87	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	E	87;87;92;80	ENSP00000390955:Q87E;ENSP00000360250:Q92E;ENSP00000360248:Q80E	ENSP00000360248:Q80E	Q	+	1	0	ENTPD1	97589531	0.998000	0.40836	0.127000	0.21898	0.766000	0.43426	3.808000	0.55598	1.555000	0.49500	0.557000	0.71058	CAA		PASS	0.473	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		13	68	13	68	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104112241	104112241	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:104112241A>G	ENST00000369983.3	+	7	810	c.550A>G	c.(550-552)Act>Gct	p.T184A		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	184					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.T184A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CGCAGAGCACACTCTCGTAGA	0.498											OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kux.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(550-552)ACT>GCT		golgi-specific brefeldin A resistant guanine							112.0	109.0	110.0					10																	104112241		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104112241A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.550A>G	10.37:g.104112241A>G	ENSP00000359000:p.Thr184Ala		OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1379	GBF1_uc001kuw.2_Missense_Mutation_p.T184A|GBF1_uc001kuy.1_Missense_Mutation_p.T184A|GBF1_uc001kuz.1_Missense_Mutation_p.T184A	p.T184A	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	7	790	+		Colorectal(252;0.0236)	184					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.550A>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.389988	0.42410	.	.	ENSG00000107862	ENST00000369983	T	0.64618	-0.11	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	N	0.25094	0.71	0.80722	D	1	B;B;P;P	0.43578	0.397;0.131;0.533;0.811	B;B;B;B	0.38264	0.085;0.057;0.122;0.269	T	0.46884	-0.9159	10	0.26408	T	0.33	-14.1364	16.1368	0.81492	1.0:0.0:0.0:0.0	.	184;184;184;184	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	A	184	ENSP00000359000:T184A	ENSP00000359000:T184A	T	+	1	0	GBF1	104102231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.213000	0.71641	0.533000	0.62120	ACT		PASS	0.498	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			6	33	6	33	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123239480	123239480	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:123239480G>T	ENST00000358487.5	-	18	2629	c.2357C>A	c.(2356-2358)aCa>aAa	p.T786K	FGFR2_ENST00000478859.1_Missense_Mutation_p.T558K|FGFR2_ENST00000356226.4_Missense_Mutation_p.T669K|FGFR2_ENST00000457416.2_Missense_Mutation_p.T787K|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.T670K|FGFR2_ENST00000346997.2_Missense_Mutation_p.T784K|FGFR2_ENST00000369061.4_Missense_Mutation_p.T674K|FGFR2_ENST00000369059.1_Missense_Mutation_p.T672K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	786					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.T787K(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	AGAACTTCTTGTGTCAGGGTA	0.448		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		1	Substitution - Missense(1)		lung(1)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(2356-2358)ACA>AAA		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						190.0	167.0	175.0					10																	123239480		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123239480G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2357C>A	10.37:g.123239480G>T	ENSP00000351276:p.Thr786Lys					FGFR2_uc010qtg.1_Missense_Mutation_p.T674K|FGFR2_uc010qth.1_Missense_Mutation_p.T671K|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.T787K|FGFR2_uc010qtl.1_Missense_Mutation_p.T670K|FGFR2_uc010qtm.1_Missense_Mutation_p.T669K|FGFR2_uc001lfg.3_Missense_Mutation_p.T394K|FGFR2_uc001lfk.1_RNA	p.T786K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	19	3004	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	786			Cytoplasmic (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.2357C>A	CCDS31298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.682348|3.682348	0.68042|0.68042	.|.	.|.	ENSG00000066468|ENSG00000066468	ENST00000429361|ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416	T|T;T;T;T;T;T;T	0.77620|0.80909	-1.11|-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Protein kinase-like domain (1);	.|0.114225	.|0.64402	.|D	.|0.000018	D|D	0.85292|0.85292	0.5663|0.5663	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|B;B;P;B;P	.|0.45672	.|0.268;0.387;0.76;0.149;0.864	.|B;P;P;B;B	.|0.47299	.|0.323;0.471;0.543;0.323;0.434	D|D	0.86099|0.86099	0.1555|0.1555	6|10	.|0.87932	.|D	.|0	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|803;785;669;786;689	.|D3DRD5;P21802-18;P21802-20;P21802;D3DRD3	.|.;.;.;FGFR2_HUMAN;.	K|K	343|787;674;786;669;670;672;784;787	ENSP00000404219:Q343K|ENSP00000358057:T674K;ENSP00000351276:T786K;ENSP00000348559:T669K;ENSP00000358056:T670K;ENSP00000358055:T672K;ENSP00000263451:T784K;ENSP00000410294:T787K	.|ENSP00000263451:T784K	Q|T	-|-	1|2	0|0	FGFR2|FGFR2	123229470|123229470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.863000|7.863000	0.87023|0.87023	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CAA|ACA		PASS	0.448	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		18	52	18	52	---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124268201	124268201	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:124268201G>A	ENST00000368984.3	+	6	1163	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	345	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L345L(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TTAACACTTTGAAAGTGACAG	0.473																																						uc001lgj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1033-1035)TTG>TTA		HtrA serine peptidase 1 precursor							158.0	158.0	158.0					10																	124268201		2203	4300	6503	SO:0001819	synonymous_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124268201G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1035G>A	10.37:g.124268201G>A							p.L345L	NM_002775	NP_002766	Q92743	HTRA1_HUMAN			6	1163	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	345			Serine protease.		D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	c.1035G>A	CCDS7630.1																																																																																				PASS	0.473	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		36	106	36	106	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135440182	135440182	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr10:135440182G>T	ENST00000425520.1	-	1	117	c.65C>A	c.(64-66)cCc>cAc	p.P22H	FRG2B_ENST00000443774.1_Missense_Mutation_p.P22H	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	22						nucleus (GO:0005634)		p.P22H(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTGGAAAGGGGGCTGGTCAGT	0.507																																						uc010qvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CCC>CAC		FSHD region gene 2 family, member B							89.0	116.0	107.0					10																	135440182		2201	4295	6496	SO:0001583	missense	441581					nucleus		g.chr10:135440182G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.65C>A	10.37:g.135440182G>T	ENSP00000401310:p.Pro22His						p.P22H	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	118	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	22					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.65C>A	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	9.847	1.192745	0.21954	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.35973	1.28;1.28	0.109	0.109	0.14578	.	.	.	.	.	T	0.34919	0.0914	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.19877	-1.0292	8	0.72032	D	0.01	-1.1262	.	.	.	.	22	Q96QU4	FRG2B_HUMAN	H	22	ENSP00000408343:P22H;ENSP00000401310:P22H	ENSP00000401310:P22H	P	-	2	0	FRG2B	135290172	0.998000	0.40836	0.044000	0.18714	0.044000	0.14063	0.831000	0.27476	0.181000	0.19994	0.184000	0.17185	CCC		PASS	0.507	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		17	122	17	122	---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	654013	654013	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:654013C>A	ENST00000382409.3	-	11	2026	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	DEAF1_ENST00000338675.6_Missense_Mutation_p.E439D|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	514					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E514D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGCCGGTGCACTCGCTCATAG	0.627																																						uc001lqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1540-1542)GAG>GAT		deformed epidermal autoregulatory factor 1							157.0	119.0	132.0					11																	654013		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:654013C>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1542G>T	11.37:g.654013C>A	ENSP00000371846:p.Glu514Asp					DEAF1_uc009ycf.1_RNA	p.E514D	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	11	2235	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	514			MYND-type.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1542G>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342262	0.41498	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.66099	-0.19	3.49	3.49	0.39957	Zinc finger, MYND-type (3);	0.000000	0.64402	D	0.000001	T	0.70902	0.3277	M	0.63843	1.955	0.51482	D	0.999927	D	0.69078	0.997	D	0.79108	0.992	T	0.71988	-0.4426	10	0.66056	D	0.02	-30.5674	5.5806	0.17248	0.0:0.7668:0.0:0.2332	.	514	O75398	DEAF1_HUMAN	D	514;439;500;437	ENSP00000371846:E514D	ENSP00000341902:E439D	E	-	3	2	DEAF1	644013	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	2.212000	0.42835	1.971000	0.57363	0.455000	0.32223	GAG		PASS	0.627	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		8	19	8	19	---	---	---	---
OR52M1	119772	broad.mit.edu	37	11	4566688	4566688	+	Missense_Mutation	SNP	G	G	T	rs185122819	byFrequency	TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:4566688G>T	ENST00000360213.1	+	1	268	c.268G>T	c.(268-270)Ggt>Tgt	p.G90C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G90C(2)|p.G90S(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTGGTTCGGTGCTTGTGA	0.502																																						uc010qyf.1																			3	Substitution - Missense(3)		lung(2)|upper_aerodigestive_tract(1)		0						c.(268-270)GGT>TGT		olfactory receptor, family 52, subfamily M,							157.0	147.0	150.0					11																	4566688		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566688G>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.268G>T	11.37:g.4566688G>T	ENSP00000353343:p.Gly90Cys						p.G90C	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	268	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	90			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.268G>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269909	0.59540	.	.	ENSG00000197790	ENST00000360213	T	0.03094	4.05	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.282534	0.25458	N	0.030533	T	0.16128	0.0388	M	0.80847	2.515	0.37329	D	0.90987	D	0.76494	0.999	D	0.66979	0.948	T	0.00426	-1.1746	10	0.72032	D	0.01	.	10.5736	0.45214	0.0889:0.0:0.9111:0.0	.	90	Q8NGK5	O52M1_HUMAN	C	90	ENSP00000353343:G90C	ENSP00000353343:G90C	G	+	1	0	OR52M1	4523264	0.001000	0.12720	1.000000	0.80357	0.882000	0.50991	1.175000	0.31944	2.659000	0.90383	0.655000	0.94253	GGT		PASS	0.502	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		17	50	17	50	---	---	---	---
C11orf16	56673	broad.mit.edu	37	11	8947274	8947274	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:8947274G>T	ENST00000326053.5	-	5	1046	c.940C>A	c.(940-942)Cag>Aag	p.Q314K	C11orf16_ENST00000525780.1_Missense_Mutation_p.Q314K|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	314								p.Q314K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGCAAAAGCTGTGCTGTGGGC	0.567																																						uc001mhb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(940-942)CAG>AAG		hypothetical protein LOC56673							89.0	87.0	88.0					11																	8947274		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8947274G>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.940C>A	11.37:g.8947274G>T	ENSP00000318999:p.Gln314Lys					C11orf16_uc001mhc.3_Missense_Mutation_p.Q314K	p.Q314K	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	1064	-			314					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.940C>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362730	0.41902	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.34275	1.4;1.37	5.67	3.69	0.42338	.	0.318671	0.28146	N	0.016427	T	0.40767	0.1130	L	0.59436	1.845	0.09310	N	1	P;D	0.55605	0.952;0.972	B;P	0.54100	0.356;0.742	T	0.17198	-1.0377	10	0.25106	T	0.35	-9.7115	6.2438	0.20805	0.0725:0.1312:0.6606:0.1356	.	314;314	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	K	314	ENSP00000436818:Q314K;ENSP00000318999:Q314K	ENSP00000318999:Q314K	Q	-	1	0	C11orf16	8903850	0.008000	0.16893	0.649000	0.29536	0.702000	0.40608	1.140000	0.31516	1.543000	0.49345	0.655000	0.94253	CAG		PASS	0.567	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		4	69	4	69	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136891	40136891	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:40136891C>A	ENST00000278198.2	-	2	2915	c.952G>T	c.(952-954)Gac>Tac	p.D318Y	LRRC4C_ENST00000530763.1_Missense_Mutation_p.D318Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D318Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D318Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	318	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.D318Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGGCCATGTCTTTTATCCAC	0.488																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(952-954)GAC>TAC		netrin-G1 ligand precursor							115.0	100.0	105.0					11																	40136891		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136891C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.952G>T	11.37:g.40136891C>A	ENSP00000278198:p.Asp318Tyr					LRRC4C_uc001mxc.1_Missense_Mutation_p.D314Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.D314Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.D314Y	p.D318Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2916	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	318			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.952G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386815	0.42308	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.052715	0.85682	D	0.000000	T	0.08313	0.0207	L	0.60455	1.87	0.58432	D	0.999999	P	0.40534	0.72	B	0.35510	0.204	T	0.03202	-1.1061	10	0.72032	D	0.01	.	18.9619	0.92680	0.0:1.0:0.0:0.0	.	318	Q9HCJ2	LRC4C_HUMAN	Y	318	ENSP00000278198:D318Y;ENSP00000436976:D318Y;ENSP00000437132:D318Y;ENSP00000434761:D318Y	ENSP00000278198:D318Y	D	-	1	0	LRRC4C	40093467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.732000	0.93576	0.655000	0.94253	GAC		PASS	0.488	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		6	31	6	31	---	---	---	---
ALX4	60529	broad.mit.edu	37	11	44289133	44289133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:44289133C>A	ENST00000329255.3	-	3	920	c.817G>T	c.(817-819)Gag>Tag	p.E273*		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	273					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E273*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCAAAACGCTCCCGCTTCCTC	0.587																																						uc001myb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(817-819)GAG>TAG		aristaless-like homeobox 4							179.0	147.0	158.0					11																	44289133		2203	4299	6502	SO:0001587	stop_gained	60529				hair follicle development			g.chr11:44289133C>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.817G>T	11.37:g.44289133C>A	ENSP00000332744:p.Glu273*						p.E273*	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			3	921	-			273			Homeobox.		Q96JN7|Q9H198|Q9HAY9	Nonsense_Mutation	SNP	ENST00000329255.3	37	c.817G>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	38	6.861532	0.97893	.	.	ENSG00000052850	ENST00000329255	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.578	0.91162	0.0:1.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000332744:E273X	E	-	1	0	ALX4	44245709	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.537000	0.82033	2.700000	0.92200	0.462000	0.41574	GAG		PASS	0.587	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			11	21	11	21	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595023	55595023	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:55595023C>G	ENST00000378397.1	+	1	329	c.329C>G	c.(328-330)aCt>aGt	p.T110S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T110S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTGGAGTCACTGAGGTCTTC	0.498										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)ACT>AGT		olfactory receptor, family 5, subfamily L,							182.0	170.0	174.0					11																	55595023		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595023C>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.329C>G	11.37:g.55595023C>G	ENSP00000367650:p.Thr110Ser	HNSCC(27;0.073)					p.T110S	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	329	+		all_epithelial(135;0.208)	110			Helical; Name=3; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.329C>G	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	5.639	0.302594	0.10678	.	.	ENSG00000205030	ENST00000378397	T	0.01359	4.98	5.18	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.255257	0.27861	N	0.017548	T	0.01489	0.0048	L	0.33137	0.985	0.09310	N	1	B	0.25719	0.132	B	0.24974	0.057	T	0.47761	-0.9092	10	0.23891	T	0.37	-23.2117	10.9202	0.47161	0.0:0.8448:0.0:0.1552	.	110	Q8NGL0	OR5L2_HUMAN	S	110	ENSP00000367650:T110S	ENSP00000367650:T110S	T	+	2	0	OR5L2	55351599	0.000000	0.05858	0.073000	0.20177	0.295000	0.27426	0.776000	0.26704	0.720000	0.32209	-0.169000	0.13324	ACT		PASS	0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		32	96	32	96	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735343	55735343	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:55735343C>T	ENST00000312345.2	-	1	647	c.597G>A	c.(595-597)acG>acA	p.T199T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAATGGCACCGTGATAAACA	0.408																																						uc010rit.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(595-597)ACG>ACA		olfactory receptor, family 10, subfamily AG,							80.0	80.0	80.0					11																	55735343		2201	4296	6497	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735343C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.597G>A	11.37:g.55735343C>T							p.T199T	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	597	-	Esophageal squamous(21;0.0137)		199			Helical; Name=5; (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.597G>A	CCDS31514.1																																																																																				PASS	0.408	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		6	17	6	17	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190006	58190006	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:58190006G>T	ENST00000302581.2	-	1	780	c.729C>A	c.(727-729)ttC>ttA	p.F243L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F243L(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACTGCAGTGAAGTGAGAGG	0.448																																						uc010rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(727-729)TTC>TTA		olfactory receptor, family 5, subfamily B,							128.0	118.0	121.0					11																	58190006		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190006G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.729C>A	11.37:g.58190006G>T	ENSP00000303076:p.Phe243Leu						p.F243L	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	729	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	243			Helical; Name=6; (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.729C>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.981140	0.00448	.	.	ENSG00000172365	ENST00000302581	T	0.26810	1.71	3.73	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.260199	0.20118	N	0.098864	T	0.03651	0.0104	N	0.00096	-2.155	0.24777	N	0.992831	B	0.02656	0.0	B	0.12156	0.007	T	0.40590	-0.9555	10	0.02654	T	1	-12.3852	5.8017	0.18417	0.1137:0.3256:0.5607:0.0	.	243	Q96R09	OR5B2_HUMAN	L	243	ENSP00000303076:F243L	ENSP00000303076:F243L	F	-	3	2	OR5B2	57946582	0.000000	0.05858	0.171000	0.22900	0.222000	0.24845	-0.209000	0.09358	0.918000	0.36919	0.585000	0.79938	TTC		PASS	0.448	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		9	29	9	29	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61196668	61196668	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:61196668C>G	ENST00000394888.4	-	2	212	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	CPSF7_ENST00000448745.1_Missense_Mutation_p.E14Q|CPSF7_ENST00000439958.3_Missense_Mutation_p.E14Q|CPSF7_ENST00000541963.1_Missense_Mutation_p.E14Q|CPSF7_ENST00000340437.4_Missense_Mutation_p.E57Q|RP11-286N22.8_ENST00000543044.1_5'Flank|SDHAF2_ENST00000534878.1_5'Flank|SDHAF2_ENST00000543265.1_5'Flank|SDHAF2_ENST00000301761.2_5'Flank|SDHAF2_ENST00000542074.1_5'Flank|SDHAF2_ENST00000537782.1_5'Flank	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	14					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E14Q(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TTGAACTCCTCGTCAGCATAT	0.488																																						uc001nrq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(40-42)GAG>CAG		pre-mRNA cleavage factor I, 59 kDa subunit							200.0	192.0	195.0					11																	61196668		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61196668C>G		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.40G>C	11.37:g.61196668C>G	ENSP00000378352:p.Glu14Gln					SDHAF2_uc001nrt.2_5'Flank|CPSF7_uc001nro.2_Missense_Mutation_p.E14Q|CPSF7_uc001nrp.2_Missense_Mutation_p.E57Q|CPSF7_uc001nrr.2_Missense_Mutation_p.E14Q|CPSF7_uc001nrs.1_5'UTR|CPSF7_uc009ynp.2_Missense_Mutation_p.E14Q	p.E14Q	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			2	174	-			14					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.40G>C	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477590	0.44044	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	.	.	.	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000005	T	0.64918	0.2642	L	0.28504	0.86	0.46564	D	0.999109	D;D;D;D	0.71674	0.998;0.978;0.998;0.987	D;D;D;D	0.79108	0.992;0.962;0.992;0.983	T	0.60321	-0.7286	9	0.23891	T	0.37	.	17.6639	0.88199	0.0:1.0:0.0:0.0	.	14;14;57;14	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	Q	57;14;14;14;14;14;14;14;14;14;14;14	.	ENSP00000345412:E57Q	E	-	1	0	CPSF7	60953244	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	4.818000	0.62657	2.489000	0.83994	0.563000	0.77884	GAG		PASS	0.488	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		31	151	31	151	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62285078	62285078	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:62285078G>A	ENST00000378024.4	-	5	17085	c.16811C>T	c.(16810-16812)tCt>tTt	p.S5604F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5604	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S5604C(1)|p.S5604F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTGAGAGCAGAGGAGACTTG	0.537																																						uc001ntl.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(16810-16812)TCT>TTT		AHNAK nucleoprotein isoform 1							126.0	142.0	137.0					11																	62285078		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285078G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16811C>T	11.37:g.62285078G>A	ENSP00000367263:p.Ser5604Phe					AHNAK_uc001ntk.1_Intron	p.S5604F	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	17111	-		Melanoma(852;0.155)	5604			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16811C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404663	0.25378	.	.	ENSG00000124942	ENST00000378024	T	0.00792	5.69	4.75	3.83	0.44106	.	0.000000	0.39210	U	0.001433	T	0.02688	0.0081	L	0.56769	1.78	0.22710	N	0.998822	D	0.71674	0.998	D	0.83275	0.996	T	0.37009	-0.9724	10	0.44086	T	0.13	.	8.925	0.35634	0.1727:0.0:0.8273:0.0	.	5604	Q09666	AHNK_HUMAN	F	5604	ENSP00000367263:S5604F	ENSP00000367263:S5604F	S	-	2	0	AHNAK	62041654	0.998000	0.40836	0.980000	0.43619	0.964000	0.63967	4.293000	0.59037	0.981000	0.38548	0.637000	0.83480	TCT		PASS	0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		53	120	53	120	---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65827324	65827324	+	Silent	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:65827324C>G	ENST00000322535.6	+	13	1522	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L	SF3B2_ENST00000528302.1_Silent_p.L474L	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	491					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.L491L(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGGTTCACCTCAAGGCCACTC	0.572																																						uc001ogy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1471-1473)CTC>CTG		splicing factor 3B subunit 2							111.0	90.0	97.0					11																	65827324		2201	4295	6496	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65827324C>G	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1473C>G	11.37:g.65827324C>G							p.L491L	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			13	1513	+			491					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.1473C>G	CCDS31612.1																																																																																				PASS	0.572	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			17	43	17	43	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66191496	66191496	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:66191496C>A	ENST00000311034.2	+	7	1311	c.1135C>A	c.(1135-1137)Cct>Act	p.P379T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	379					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.P379T(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCCAGTGCTCCTGAACTGAG	0.542																																						uc001ohx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1135-1137)CCT>ACT		neuronal PAS domain protein 4							129.0	133.0	132.0					11																	66191496		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191496C>A	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.1135C>A	11.37:g.66191496C>A	ENSP00000311196:p.Pro379Thr					NPAS4_uc010rpc.1_Missense_Mutation_p.P169T	p.P379T	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1311	+			379					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1135C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770098	0.15983	.	.	ENSG00000174576	ENST00000311034	T	0.40756	1.02	4.65	2.7	0.31948	.	0.279137	0.25881	N	0.027698	T	0.19046	0.0457	N	0.04508	-0.205	0.29604	N	0.847447	B	0.18741	0.03	B	0.15052	0.012	T	0.13072	-1.0523	10	0.27785	T	0.31	-7.6549	9.0462	0.36347	0.1672:0.6714:0.1614:0.0	.	379	Q8IUM7	NPAS4_HUMAN	T	379	ENSP00000311196:P379T	ENSP00000311196:P379T	P	+	1	0	NPAS4	65948072	0.966000	0.33281	0.975000	0.42487	0.966000	0.64601	0.762000	0.26503	0.529000	0.28599	0.563000	0.77884	CCT		PASS	0.542	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		32	119	32	119	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70189808	70189808	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:70189808G>A	ENST00000253925.7	+	15	1956	c.1741G>A	c.(1741-1743)Gcc>Acc	p.A581T	PPFIA1_ENST00000389547.3_Missense_Mutation_p.A581T|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	581					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.A581T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTGGGAACGTGCCCAGCAAGC	0.413																																						uc001opo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1741-1743)GCC>ACC		PTPRF interacting protein alpha 1 isoform b							107.0	83.0	91.0					11																	70189808		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70189808G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1741G>A	11.37:g.70189808G>A	ENSP00000253925:p.Ala581Thr					PPFIA1_uc001opn.1_Missense_Mutation_p.A581T|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.A581T	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		15	1939	+			581					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.1741G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.208043	0.22205	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.45276	0.9;0.9	5.3	5.3	0.74995	.	0.130896	0.52532	D	0.000075	T	0.36690	0.0976	L	0.39020	1.185	0.40960	D	0.984619	B;B	0.18741	0.03;0.029	B;B	0.26094	0.066;0.008	T	0.19484	-1.0304	10	0.12103	T	0.63	.	18.9692	0.92708	0.0:0.0:1.0:0.0	.	581;581	Q13136;Q13136-2	LIPA1_HUMAN;.	T	581;581;68	ENSP00000253925:A581T;ENSP00000374198:A581T	ENSP00000253925:A581T	A	+	1	0	PPFIA1	69867456	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	5.177000	0.65032	2.484000	0.83849	0.561000	0.74099	GCC		PASS	0.413	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		4	118	4	118	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74013511	74013511	+	Missense_Mutation	SNP	C	C	G	rs376675631		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:74013511C>G	ENST00000331597.4	-	3	515	c.470G>C	c.(469-471)gGt>gCt	p.G157A	P4HA3_ENST00000427714.2_Missense_Mutation_p.G157A	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	157						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G157A(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTGAAAGACACCTCGGGCCAG	0.562																																						uc001ouz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(469-471)GGT>GCT		prolyl 4-hydroxylase, alpha III subunit							128.0	126.0	127.0					11																	74013511		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74013511C>G	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.470G>C	11.37:g.74013511C>G	ENSP00000332170:p.Gly157Ala					P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.G157A	p.G157A	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN			3	513	-	Breast(11;2.31e-05)		157					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.470G>C	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542462	0.85917	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	D;D	0.87412	-1.61;-2.25	4.96	4.96	0.65561	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.050671	0.85682	D	0.000000	D	0.94089	0.8105	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94725	0.7904	10	0.87932	D	0	-22.8104	16.0853	0.81042	0.0:1.0:0.0:0.0	.	157;157	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	A	157	ENSP00000332170:G157A;ENSP00000401749:G157A	ENSP00000332170:G157A	G	-	2	0	P4HA3	73691159	1.000000	0.71417	0.621000	0.29145	0.995000	0.86356	6.520000	0.73773	2.727000	0.93392	0.563000	0.77884	GGT		PASS	0.562	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		22	88	22	88	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76372075	76372075	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:76372075T>A	ENST00000407242.2	-	3	804	c.562A>T	c.(562-564)Atc>Ttc	p.I188F	LRRC32_ENST00000404995.1_Missense_Mutation_p.I188F|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.I188F	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	188					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.I188F(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCATCCTCGATGTCCATCAGC	0.622																																						uc001oxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)ATC>TTC		leucine rich repeat containing 32 precursor							101.0	90.0	94.0					11																	76372075		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372075T>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.562A>T	11.37:g.76372075T>A	ENSP00000384126:p.Ile188Phe					LRRC32_uc001oxr.3_Missense_Mutation_p.I188F|LRRC32_uc010rsf.1_Missense_Mutation_p.I188F	p.I188F	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	805	-			188			Extracellular (Potential).|LRR 6.		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.562A>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.119591	0.77323	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.65364	-0.15;-0.15;-0.15	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77958	-0.2392	10	0.36615	T	0.2	.	13.8515	0.63499	0.0:0.0:0.0:1.0	.	188	Q14392	LRC32_HUMAN	F	188	ENSP00000260061:I188F;ENSP00000384126:I188F;ENSP00000385766:I188F	ENSP00000260061:I188F	I	-	1	0	LRRC32	76049723	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.862000	0.87013	1.870000	0.54199	0.379000	0.24179	ATC		PASS	0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		13	49	13	49	---	---	---	---
GDPD4	220032	broad.mit.edu	37	11	76969559	76969559	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:76969559C>A	ENST00000376217.2	-	10	986	c.736G>T	c.(736-738)Gac>Tac	p.D246Y	GDPD4_ENST00000315938.4_Missense_Mutation_p.D246Y			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	246	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.D246Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AGGTCAAAGTCATGCATGAGG	0.478																																						uc001oyf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(736-738)GAC>TAC		glycerophosphodiester phosphodiesterase domain							161.0	154.0	157.0					11																	76969559		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76969559C>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.736G>T	11.37:g.76969559C>A	ENSP00000365390:p.Asp246Tyr						p.D246Y	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			10	987	-			246			GDPD.|Extracellular (Potential).		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.736G>T		.	.	.	.	.	.	.	.	.	.	C	18.68	3.676595	0.67928	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.62941	-0.01;-0.01	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.98738	4.315	0.40694	D	0.982421	D	0.89917	1.0	D	0.91635	0.999	D	0.91640	0.5326	10	0.87932	D	0	-25.4468	13.2827	0.60224	0.0:1.0:0.0:0.0	.	246	Q6W3E5-2	.	Y	246	ENSP00000365390:D246Y;ENSP00000320815:D246Y	ENSP00000320815:D246Y	D	-	1	0	GDPD4	76647207	1.000000	0.71417	0.989000	0.46669	0.932000	0.56968	4.502000	0.60400	2.514000	0.84764	0.561000	0.74099	GAC		PASS	0.478	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		20	83	20	83	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78380188	78380188	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:78380188C>G	ENST00000278550.7	-	32	7664	c.7202G>C	c.(7201-7203)gGc>gCc	p.G2401A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2401					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.G2401D(2)|p.G2401A(2)									ACCATGGTAGCCTATGATGAT	0.517																																						uc001ozl.3																			4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(2)	4						c.(7201-7203)GGC>GCC		odz, odd Oz/ten-m homolog 4							58.0	58.0	58.0					11																	78380188		1949	4148	6097	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380188C>G	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.7202G>C	11.37:g.78380188C>G	ENSP00000278550:p.Gly2401Ala					ODZ4_uc001ozk.3_Missense_Mutation_p.G626A|ODZ4_uc009yvb.1_Missense_Mutation_p.G985A	p.G2401A	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	7665	-			2401			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7202G>C	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049547	0.75846	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91124	-2.79;0.62	5.67	5.67	0.87782	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96398	0.9294	9	.	.	.	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	2401	Q6N022	TEN4_HUMAN	A	2401;865	ENSP00000278550:G2401A;ENSP00000431711:G865A	.	G	-	2	0	ODZ4	78057836	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	GGC		PASS	0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			10	20	10	20	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83252873	83252873	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:83252873C>T	ENST00000532653.1	-	15	1956	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	DLG2_ENST00000530800.1_Missense_Mutation_p.D61N|DLG2_ENST00000426717.2_Missense_Mutation_p.D34N|DLG2_ENST00000537455.1_Missense_Mutation_p.D306N|DLG2_ENST00000531015.1_Missense_Mutation_p.D519N|DLG2_ENST00000543673.1_Missense_Mutation_p.D657N|DLG2_ENST00000398304.1_Missense_Mutation_p.D34N|DLG2_ENST00000524982.1_Missense_Mutation_p.D552N|DLG2_ENST00000376106.3_Missense_Mutation_p.D34N|DLG2_ENST00000280241.8_Missense_Mutation_p.D591N|DLG2_ENST00000330014.6_Missense_Mutation_p.D491N|DLG2_ENST00000418306.2_Missense_Mutation_p.D449N|DLG2_ENST00000404783.3_Missense_Mutation_p.D34N|DLG2_ENST00000376104.2_Missense_Mutation_p.D657N|DLG2_ENST00000398309.2_Missense_Mutation_p.D552N			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	265	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.D449N(1)|p.D657N(1)|p.D591N(1)|p.D552N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGCCCACTGTCCTTGCTCTTG	0.443																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1654-1656)GAC>AAC		chapsyn-110 isoform 2							83.0	80.0	81.0					11																	83252873		1984	4196	6180	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83252873C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1654G>A	11.37:g.83252873C>T	ENSP00000435849:p.Asp552Asn					DLG2_uc001pai.2_Missense_Mutation_p.D449N|DLG2_uc010rsy.1_Missense_Mutation_p.D519N|DLG2_uc010rsz.1_Missense_Mutation_p.D552N|DLG2_uc010rta.1_Missense_Mutation_p.D552N|DLG2_uc001pak.2_Missense_Mutation_p.D657N|DLG2_uc010rtb.1_Missense_Mutation_p.D519N|DLG2_uc010rsw.1_Missense_Mutation_p.D34N|DLG2_uc010rsx.1_Missense_Mutation_p.D33N	p.D552N	NM_001364	NP_001355	Q15700	DLG2_HUMAN			15	1957	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	552			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1654G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.618852	0.96649	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000420775;ENST00000524601;ENST00000398304;ENST00000530800;ENST00000529399;ENST00000434967	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.85702	3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;-2.02	5.43	5.43	0.79202	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000001	D	0.93831	0.8027	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.994;0.994;0.998;0.971;0.984	D	0.94002	0.7276	9	.	.	.	.	19.6092	0.95599	0.0:1.0:0.0:0.0	.	519;552;552;491;34;657;552;449	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	N	552;34;657;449;657;591;34;491;306;34;552;552;657;519;34;34;34;61;34;63	ENSP00000381355:D552N;ENSP00000393049:D34N;ENSP00000365272:D657N;ENSP00000402275:D449N;ENSP00000441994:D657N;ENSP00000280241:D591N;ENSP00000385113:D34N;ENSP00000381353:D491N;ENSP00000443248:D306N;ENSP00000365274:D34N;ENSP00000432894:D552N;ENSP00000435849:D552N;ENSP00000433848:D519N;ENSP00000391017:D34N;ENSP00000436020:D34N;ENSP00000381349:D34N;ENSP00000436302:D61N;ENSP00000434346:D34N;ENSP00000403239:D63N	.	D	-	1	0	DLG2	82930521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.693000	0.91896	0.655000	0.94253	GAC		PASS	0.443	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		11	48	11	48	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93494785	93494785	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:93494785C>A	ENST00000331239.4	+	9	1058	c.879C>A	c.(877-879)taC>taA	p.Y293*	C11orf54_ENST00000540113.1_Nonsense_Mutation_p.Y274*|C11orf54_ENST00000528099.1_Nonsense_Mutation_p.Y293*|C11orf54_ENST00000354421.3_Nonsense_Mutation_p.Y293*|C11orf54_ENST00000528288.1_Nonsense_Mutation_p.Y243*			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	293					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.Y243*(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCTTGGATACTTCTTACCTG	0.378																																						uc009ywi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(877-879)TAC>TAA		hypothetical protein LOC28970							143.0	129.0	134.0					11																	93494785		2201	4298	6499	SO:0001587	stop_gained	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93494785C>A	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.879C>A	11.37:g.93494785C>A	ENSP00000331209:p.Tyr293*					C11orf54_uc001pef.2_Nonsense_Mutation_p.Y243*|C11orf54_uc001peg.2_Nonsense_Mutation_p.Y293*|C11orf54_uc001peh.2_Nonsense_Mutation_p.Y293*|C11orf54_uc001pei.2_Nonsense_Mutation_p.Y274*|C11orf54_uc001pej.2_Nonsense_Mutation_p.Y274*|C11orf54_uc001pek.2_Nonsense_Mutation_p.Y182*	p.Y293*	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			10	1210	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	293					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Nonsense_Mutation	SNP	ENST00000331239.4	37	c.879C>A		.	.	.	.	.	.	.	.	.	.	C	34	5.342117	0.95783	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000524485;ENST00000533154	.	.	.	5.36	0.821	0.18799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1159	11.3498	0.49581	0.0:0.5944:0.0:0.4056	.	.	.	.	X	243;293;293;293;274;274;182	.	ENSP00000331209:Y293X	Y	+	3	2	C11orf54	93134433	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	0.973000	0.29422	0.258000	0.21686	0.561000	0.74099	TAC		PASS	0.378	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		12	60	12	60	---	---	---	---
JRKL	8690	broad.mit.edu	37	11	96125203	96125203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:96125203G>T	ENST00000332349.4	+	2	1637	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	JRKL_ENST00000458427.1_Nonsense_Mutation_p.E464*|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	464					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E464*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CAGTGAAAATGAGGAGGAGGA	0.408																																						uc009ywu.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1390-1392)GAG>TAG		jerky homolog-like							64.0	57.0	59.0					11																	96125203		2201	4298	6499	SO:0001587	stop_gained	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96125203G>T	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1390G>T	11.37:g.96125203G>T	ENSP00000333350:p.Glu464*					CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Nonsense_Mutation_p.E464*	p.E464*	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	2	1642	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	464					A8K3G4|B2RAJ3|Q32MC2	Nonsense_Mutation	SNP	ENST00000332349.4	37	c.1390G>T	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	G	43	9.928068	0.99298	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	.	.	.	4.79	3.87	0.44632	.	0.000000	0.41194	D	0.000932	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-18.2923	9.4023	0.38440	0.1009:0.0:0.8991:0.0	.	.	.	.	X	464	.	ENSP00000333350:E464X	E	+	1	0	JRKL	95764851	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.708000	0.61859	1.137000	0.42214	0.462000	0.41574	GAG		PASS	0.408	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		7	16	7	16	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	100141928	100141928	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:100141928G>T	ENST00000524871.1	+	18	2559	c.2269G>T	c.(2269-2271)Gga>Tga	p.G757*	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.G757*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.G757*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.G683*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.G757*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	757	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G757*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTGGGACAGGAGATCCAAG	0.458																																						uc001pga.2																			2	Substitution - Nonsense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2269-2271)GGA>TGA		contactin 5 isoform long							100.0	98.0	99.0					11																	100141928		1946	4141	6087	SO:0001587	stop_gained	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141928G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2269G>T	11.37:g.100141928G>T	ENSP00000435637:p.Gly757*					CNTN5_uc001pfz.2_Nonsense_Mutation_p.G757*|CNTN5_uc001pgb.2_Nonsense_Mutation_p.G683*|CNTN5_uc010ruk.1_Nonsense_Mutation_p.G28*	p.G757*	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2608	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	757			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	ENST00000524871.1	37	c.2269G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	40	8.031877	0.98619	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4153	0.90567	0.0:0.0:1.0:0.0	.	.	.	.	X	757;757;757;683;757	.	ENSP00000279463:G757X	G	+	1	0	CNTN5	99647138	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	9.337000	0.96545	2.590000	0.87494	0.467000	0.42956	GGA		PASS	0.458	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	25	10	25	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100920673	100920673	+	Silent	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:100920673T>C	ENST00000325455.5	-	6	3928	c.2475A>G	c.(2473-2475)ttA>ttG	p.L825L	PGR_ENST00000534013.1_Silent_p.L231L|PGR_ENST00000263463.5_Silent_p.L723L	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	825	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L825L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TATTAAGAAGTAACAATACTT	0.328																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2473-2475)TTA>TTG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						84.0	80.0	81.0					11																	100920673		2203	4300	6503	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100920673T>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2475A>G	11.37:g.100920673T>C						PGR_uc001pgg.2_Silent_p.L206L|PGR_uc001pgi.2_Silent_p.L723L|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.L825L	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	6	3218	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	825			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.2475A>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	4.557	0.103443	0.08731	.	.	ENSG00000082175	ENST00000537623	.	.	.	5.16	-3.52	0.04682	.	.	.	.	.	T	0.52581	0.1743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50742	-0.8792	5	0.39692	T	0.17	.	6.8525	0.24022	0.2153:0.4464:0.0:0.3384	.	.	.	.	A	689	.	ENSP00000440871:T689A	T	-	1	0	PGR	100425883	0.136000	0.22515	0.379000	0.26080	0.686000	0.39977	-0.541000	0.06099	-0.873000	0.04032	-0.256000	0.11100	ACT		PASS	0.328	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			10	34	10	34	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103029721	103029721	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:103029721C>G	ENST00000375735.2	+	28	4487	c.4343C>G	c.(4342-4344)tCa>tGa	p.S1448*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.S1448*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1448	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACCAACCCATCAGTGATTCAG	0.343																																						uc001pho.2																			0					0						c.(4342-4344)TCA>TGA		dynein, cytoplasmic 2, heavy chain 1							57.0	54.0	55.0					11																	103029721		1819	4072	5891	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103029721C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4343C>G	11.37:g.103029721C>G	ENSP00000364887:p.Ser1448*					DYNC2H1_uc001phn.1_Nonsense_Mutation_p.S1448*|DYNC2H1_uc009yxe.1_Intron	p.S1448*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	28	4487	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1448			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.4343C>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	43	10.143266	0.99345	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.36	5.36	0.76844	.	1.023540	0.07867	U	0.967282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	10.646	0.45621	0.0:0.8824:0.0:0.1176	.	.	.	.	X	1448	.	ENSP00000364887:S1448X	S	+	2	0	DYNC2H1	102534931	0.238000	0.23825	1.000000	0.80357	0.993000	0.82548	1.445000	0.35079	2.671000	0.90904	0.563000	0.77884	TCA		PASS	0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	17	3	17	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103029734	103029735	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:103029734_103029735TC>AT	ENST00000375735.2	+	28	4500_4501	c.4356_4357TC>AT	c.(4354-4359)tcTCac>tcATac	p.H1453Y	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H1453Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1453	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGATTCAGTCTCACCTGAAGAA	0.361																																						uc001pho.2																			0					0						c.(4354-4356)TCT>TCA|c.(4357-4359)CAC>TAC		dynein, cytoplasmic 2, heavy chain 1																																				SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103029734T>A|g.chr11:103029735C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	Exception_encountered	11.37:g.103029734_103029735delinsAT	ENSP00000364887:p.His1453Tyr					DYNC2H1_uc001phn.1_Silent_p.S1452S|DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001phn.1_Missense_Mutation_p.H1453Y|DYNC2H1_uc009yxe.1_Intron	p.S1452S|p.H1453Y	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	28	4500|4501	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1452|1453			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent|Missense_Mutation	SNP	ENST00000375735.2	37	c.4356T>A|c.4357C>T	CCDS53701.1																																																																																				PASS	0.361	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	14	3	14	---	---	---	---
PCSK7	9159	broad.mit.edu	37	11	117097964	117097964	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:117097964G>T	ENST00000320934.3	-	5	1308	c.678C>A	c.(676-678)aaC>aaA	p.N226K		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	226	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.N226K(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGCCATGGTGGTTGCCATTCT	0.577			T	IGH@	MLCLS																																	uc001pqr.2				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		1	Substitution - Missense(1)		lung(1)		0						c.(676-678)AAC>AAA		proprotein convertase subtilisin/kexin type 7							120.0	108.0	112.0					11																	117097964		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117097964G>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.678C>A	11.37:g.117097964G>T	ENSP00000325917:p.Asn226Lys						p.N226K	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	5	879	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	226			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.678C>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509354	0.64522	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;T	0.82255	-1.59;0.84	5.46	0.552	0.17230	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87349	0.2336	10	0.87932	D	0	-34.1499	10.0481	0.42199	0.3199:0.0:0.6801:0.0	.	226	Q16549	PCSK7_HUMAN	K	226	ENSP00000325917:N226K;ENSP00000431181:N226K	ENSP00000325917:N226K	N	-	3	2	PCSK7	116603174	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.774000	0.38573	0.187000	0.20147	-0.137000	0.14449	AAC		PASS	0.577	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		7	64	7	64	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117241984	117241984	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:117241984G>C	ENST00000278935.3	+	9	1101	c.954G>C	c.(952-954)aaG>aaC	p.K318N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	318					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K318N(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAAATGAGAAGAGTGAACCTA	0.542																																						uc001prc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(952-954)AAG>AAC		centrosomal protein 164kDa							109.0	116.0	114.0					11																	117241984		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117241984G>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.954G>C	11.37:g.117241984G>C	ENSP00000278935:p.Lys318Asn					CEP164_uc001prb.2_Missense_Mutation_p.K318N|CEP164_uc010rxk.1_Missense_Mutation_p.K292N|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	p.K318N	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1101	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	318					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.954G>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623636	0.14193	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.59364	0.27	5.74	2.76	0.32466	.	0.541471	0.16879	N	0.195791	T	0.46092	0.1375	L	0.53249	1.67	0.09310	N	1	B;B;B	0.29988	0.005;0.264;0.009	B;B;B	0.27715	0.007;0.082;0.016	T	0.27434	-1.0074	10	0.25751	T	0.34	-14.4656	6.1546	0.20330	0.1598:0.0:0.6877:0.1525	.	292;318;318	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	318;292;245	ENSP00000278935:K318N	ENSP00000278935:K318N	K	+	3	2	CEP164	116747194	0.634000	0.27190	0.021000	0.16686	0.115000	0.19883	0.911000	0.28584	0.731000	0.32448	0.650000	0.86243	AAG		PASS	0.542	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		18	72	18	72	---	---	---	---
CXCR5	643	broad.mit.edu	37	11	118765034	118765034	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:118765034G>T	ENST00000292174.4	+	2	957	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	261					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)	p.A261S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		AGTCAGGGTGGCCATCCTGGT	0.632																																						uc001pue.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(781-783)GCC>TCC		Burkitt lymphoma receptor 1 isoform 1							110.0	86.0	94.0					11																	118765034		2200	4295	6495	SO:0001583	missense	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118765034G>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.781G>T	11.37:g.118765034G>T	ENSP00000292174:p.Ala261Ser					CXCR5_uc001puf.2_Missense_Mutation_p.A216S	p.A261S	NM_001716	NP_001707	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	891	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	261			Helical; Name=6; (Potential).		Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	c.781G>T	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259403	0.80246	.	.	ENSG00000160683	ENST00000292174	T	0.37752	1.18	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.062499	0.64402	D	0.000007	T	0.53965	0.1829	M	0.66939	2.045	0.80722	D	1	D	0.52996	0.957	P	0.57720	0.826	T	0.61802	-0.6988	10	0.87932	D	0	.	16.4062	0.83670	0.0:0.0:1.0:0.0	.	261	P32302	CXCR5_HUMAN	S	261	ENSP00000292174:A261S	ENSP00000292174:A261S	A	+	1	0	CXCR5	118270244	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.308000	0.65768	2.077000	0.62373	0.205000	0.17691	GCC		PASS	0.632	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		5	22	5	22	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128680809	128680809	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr11:128680809G>C	ENST00000527786.2	+	9	1774	c.1285G>C	c.(1285-1287)Gga>Cga	p.G429R	FLI1_ENST00000534087.2_Missense_Mutation_p.G396R|FLI1_ENST00000281428.8_Missense_Mutation_p.G363R|FLI1_ENST00000525560.1_Missense_Mutation_p.G236R|FLI1_ENST00000344954.6_Missense_Mutation_p.G396R	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	429					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G429R(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCCACGGGGGGAATCTACCC	0.562			T	EWSR1	Ewing sarcoma																																	uc010sbu.1				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	1	Substitution - Missense(1)		lung(1)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(1285-1287)GGA>CGA		Friend leukemia virus integration 1							105.0	107.0	106.0					11																	128680809		1973	4153	6126	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680809G>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1285G>C	11.37:g.128680809G>C	ENSP00000433488:p.Gly429Arg					FLI1_uc010sbt.1_Missense_Mutation_p.G236R|FLI1_uc010sbv.1_Missense_Mutation_p.G396R|FLI1_uc009zci.2_Missense_Mutation_p.G363R	p.G429R	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1626	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	429					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.1285G>C	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349805	0.41599	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.22743	1.94;2.54;2.54;2.54;2.54	5.46	5.46	0.80206	.	0.144785	0.64402	D	0.000006	T	0.21022	0.0506	L	0.44542	1.39	0.50313	D	0.999866	P;B;P	0.40602	0.554;0.282;0.723	B;B;B	0.44224	0.258;0.138;0.444	T	0.01159	-1.1433	10	0.59425	D	0.04	.	6.577	0.22573	0.2015:0.0:0.7985:0.0	.	429;236;363	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	R	236;396;429;396;363	ENSP00000437124:G236R;ENSP00000339627:G396R;ENSP00000399985:G429R;ENSP00000432950:G396R;ENSP00000281428:G363R	ENSP00000281428:G363R	G	+	1	0	FLI1	128186019	1.000000	0.71417	0.335000	0.25508	0.985000	0.73830	6.055000	0.71103	2.840000	0.97914	0.655000	0.94253	GGA		PASS	0.562	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		6	22	6	22	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	344326	344326	+	Missense_Mutation	SNP	G	G	C	rs140808969		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:344326G>C	ENST00000343164.4	-	7	813	c.761C>G	c.(760-762)aCg>aGg	p.T254R	SLC6A13_ENST00000445055.2_Missense_Mutation_p.T162R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	254					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T254R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCCAGGCAACGTCACCCCTCG	0.542																																						uc001qic.1																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)ACG>AGG		solute carrier family 6 (neurotransmitter							135.0	119.0	124.0					12																	344326		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:344326G>C	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.761C>G	12.37:g.344326G>C	ENSP00000339260:p.Thr254Arg					SLC6A13_uc009zdj.1_Missense_Mutation_p.T254R|SLC6A13_uc010sdl.1_Missense_Mutation_p.T162R|SLC6A13_uc010sdm.1_Missense_Mutation_p.T135R	p.T254R	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		7	814	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		254					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.761C>G	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320015	0.81469	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.79352	-1.26;-1.26	4.37	4.37	0.52481	.	0.173281	0.51477	D	0.000089	D	0.93077	0.7796	H	0.98818	4.34	0.80722	D	1	D;D;D	0.89917	0.989;0.999;1.0	D;D;D	0.87578	0.961;0.994;0.998	D	0.96133	0.9094	10	0.87932	D	0	.	17.0978	0.86641	0.0:0.0:1.0:0.0	.	162;233;254	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	R	162;233;254	ENSP00000407104:T162R;ENSP00000339260:T254R	ENSP00000318097:T233R	T	-	2	0	SLC6A13	214587	1.000000	0.71417	0.926000	0.36857	0.720000	0.41350	9.657000	0.98554	2.269000	0.75478	0.561000	0.74099	ACG		PASS	0.542	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		16	40	16	40	---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1225120	1225120	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:1225120C>T	ENST00000397203.2	+	7	1896	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	ERC1_ENST00000355446.5_Missense_Mutation_p.S497L|ERC1_ENST00000589028.1_Missense_Mutation_p.S497L|ERC1_ENST00000360905.4_Missense_Mutation_p.S497L|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Missense_Mutation_p.S497L|ERC1_ENST00000543086.3_Missense_Mutation_p.S469L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	497					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.S497L(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AACCAGTTCTCAGATAGTAAA	0.468																																						uc001qjb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1489-1491)TCA>TTA		RAB6-interacting protein 2 isoform epsilon							114.0	104.0	108.0					12																	1225120		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1225120C>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1490C>T	12.37:g.1225120C>T	ENSP00000380386:p.Ser497Leu					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.S469L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.S497L|ERC1_uc010sdv.1_Missense_Mutation_p.S245L|ERC1_uc009zdp.2_Missense_Mutation_p.S137L	p.S497L	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		7	1731	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		497			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1490C>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136132	0.94517	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;0.98;-1.18;-1.18;0.98	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.997;0.984;1.0	D;D;D;D;D	0.97110	0.992;1.0;0.993;0.924;0.999	D	0.86825	0.2007	10	0.49607	T	0.09	-6.869	20.3559	0.98840	0.0:1.0:0.0:0.0	.	245;137;469;469;497	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	L	469;497;469;469;469;469;497;497;497;469;245;137	ENSP00000340054:S469L;ENSP00000380386:S497L;ENSP00000438546:S469L;ENSP00000442739:S497L;ENSP00000347621:S497L;ENSP00000354158:S497L;ENSP00000410064:S469L	ENSP00000340054:S469L	S	+	2	0	ERC1	1095381	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	TCA		PASS	0.468	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		9	46	9	46	---	---	---	---
DYRK4	8798	broad.mit.edu	37	12	4700464	4700464	+	Splice_Site	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:4700464G>A	ENST00000540757.2	+	3	278	c.118G>A	c.(118-120)Gag>Aag	p.E40K	DYRK4_ENST00000010132.5_Splice_Site_p.E40K|DYRK4_ENST00000543431.1_Splice_Site_p.E40K	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	40						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E442K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GACAGCGGCAGGTATGCCTTT	0.537																																						uc001qmx.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(118-120)GAG>AAG		dual-specificity tyrosine-(Y)-phosphorylation							67.0	61.0	63.0					12																	4700464		2203	4300	6503	SO:0001630	splice_region_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4700464G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.118+1G>A	12.37:g.4700464G>A						DYRK4_uc009zeh.1_Missense_Mutation_p.E155K|DYRK4_uc001qmy.1_Missense_Mutation_p.E40K	p.E40K	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		3	278	+			40					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.118G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442139	0.63067	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64991	-0.13;-0.09;-0.09;-0.09	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.69185	2.1	0.80722	D	1	D;P;P	0.67145	0.996;0.86;0.781	D;P;B	0.77557	0.99;0.535;0.248	T	0.78226	-0.2286	10	0.56958	D	0.05	.	14.6091	0.68504	0.0:0.0:1.0:0.0	.	155;40;40	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	K	155;40;40;40	ENSP00000437534:E155K;ENSP00000441755:E40K;ENSP00000010132:E40K;ENSP00000439697:E40K	ENSP00000010132:E40K	E	+	1	0	DYRK4	4570725	1.000000	0.71417	0.980000	0.43619	0.134000	0.20937	5.127000	0.64727	2.359000	0.80004	0.505000	0.49811	GAG		PASS	0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		Missense_Mutation	6	19	6	19	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6650740	6650740	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:6650740C>A	ENST00000396840.2	-	8	1553	c.1512G>T	c.(1510-1512)atG>atT	p.M504I	IFFO1_ENST00000436152.2_Missense_Mutation_p.M201I|IFFO1_ENST00000465801.1_Missense_Mutation_p.M200I|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000336604.4_Missense_Mutation_p.M507I|IFFO1_ENST00000356896.4_Missense_Mutation_p.M508I			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	504						intermediate filament (GO:0005882)		p.M504I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCGCGCTTCATGCTGCACA	0.657																																						uc001qpd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)ATG>ATT		intermediate filament family orphan isoform 2							114.0	99.0	104.0					12																	6650740		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6650740C>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1512G>T	12.37:g.6650740C>A	ENSP00000380052:p.Met504Ile					IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.M144I|IFFO1_uc001qpb.1_Missense_Mutation_p.M181I|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.M516I|IFFO1_uc001qpf.1_Missense_Mutation_p.M507I|IFFO1_uc001qoz.1_Missense_Mutation_p.M145I|IFFO1_uc001qpc.1_Missense_Mutation_p.M508I|IFFO1_uc001qpg.2_Missense_Mutation_p.M145I	p.M504I	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			8	1546	-			504					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.1512G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.972135|4.972135	0.92919|0.92919	.|.	.|.	ENSG00000010295|ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501|ENST00000416019	T;T;T;T;T|.	0.11821|.	2.74;2.74;2.74;2.74;2.74|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74145|.	0.3678|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P|.	0.52577|.	0.954;0.93;0.954;0.954;0.954;0.925|.	D;D;D;D;D;P|.	0.66351|.	0.943;0.939;0.943;0.943;0.943;0.848|.	T|.	0.74156|.	-0.3756|.	10|.	0.59425|.	D|.	0.04|.	-18.1184|-18.1184	18.1137|18.1137	0.89543|0.89543	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	507;200;507;504;508;209|.	Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1|.	.;.;.;IFFO1_HUMAN;.;.|.	I|L	201;200;507;504;508;144|238	ENSP00000390721:M201I;ENSP00000436261:M200I;ENSP00000337593:M507I;ENSP00000380052:M504I;ENSP00000349364:M508I|.	ENSP00000337593:M507I|.	M|X	-|-	3|2	0|2	IFFO1|IFFO1	6521001|6521001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	7.788000|7.788000	0.85771|0.85771	2.253000|2.253000	0.74438|0.74438	0.561000|0.561000	0.74099|0.74099	ATG|TGA		PASS	0.657	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		21	100	21	100	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9311032	9311032	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:9311032A>G	ENST00000261336.2	-	26	3306	c.3278T>C	c.(3277-3279)cTc>cCc	p.L1093P	PZP_ENST00000381997.2_Missense_Mutation_p.L879P|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1093					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L879P(1)|p.L1093P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCATTGTTGAGCAGTGACCC	0.493																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3277-3279)CTC>CCC		pregnancy-zone protein precursor							213.0	199.0	204.0					12																	9311032		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9311032A>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3278T>C	12.37:g.9311032A>G	ENSP00000261336:p.Leu1093Pro					PZP_uc009zgl.2_Missense_Mutation_p.L879P	p.L1093P	NM_002864	NP_002855					26	3307	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3278T>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493218	0.64186	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.39406	1.08;1.08	4.32	4.32	0.51571	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.108362	0.38436	U	0.001684	T	0.70150	0.3191	M	0.91140	3.18	0.54753	D	0.999983	D;D	0.76494	0.988;0.999	P;D	0.75484	0.863;0.986	T	0.78486	-0.2185	10	0.87932	D	0	.	13.8238	0.63338	1.0:0.0:0.0:0.0	.	879;1093	P20742-2;P20742	.;PZP_HUMAN	P	1093;879	ENSP00000261336:L1093P;ENSP00000371427:L879P	ENSP00000261336:L1093P	L	-	2	0	PZP	9202299	0.995000	0.38212	0.998000	0.56505	0.750000	0.42670	7.003000	0.76310	1.881000	0.54492	0.460000	0.39030	CTC		PASS	0.493	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		41	68	41	68	---	---	---	---
PDE6H	5149	broad.mit.edu	37	12	15131001	15131002	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:15131001_15131002CC>AG	ENST00000266395.2	+	2	161_162	c.55_56CC>AG	c.(55-57)CCa>AGa	p.P19R		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	19					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)	p.P19R(2)|p.P19T(1)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	TCCTACCACCCCACGCAAAGGC	0.505																																						uc001rcr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(55-57)CCA>ACA|c.(55-57)CCA>CGA		phosphodiesterase 6H																																				SO:0001583	missense	5149				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr12:15131001C>A|g.chr12:15131002C>G		CCDS8672.1	12p13	2008-03-18					3.1.4.17	"""Phosphodiesterases"""	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		Exception_encountered	12.37:g.15131001_15131002delinsAG	ENSP00000266395:p.Pro19Arg						p.P19T|p.P19R	NM_006205	NP_006196	Q13956	CNCG_HUMAN			2	139|140	+			19					Q52LY7	Missense_Mutation	SNP	ENST00000266395.2	37	c.55C>A|c.56C>G	CCDS8672.1																																																																																				PASS	0.505	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400880.1			6	31	6	31	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21329714	21329714	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:21329714A>T	ENST00000256958.2	+	5	460	c.364A>T	c.(364-366)Agg>Tgg	p.R122W		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	122					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R122W(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTACAGTTACAGGTATTCTAA	0.294																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(364-366)AGG>TGG		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						69.0	70.0	69.0					12																	21329714		2198	4287	6485	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21329714A>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.364A>T	12.37:g.21329714A>T	ENSP00000256958:p.Arg122Trp						p.R122W	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			5	468	+			122			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.364A>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809351	0.50421	.	.	ENSG00000134538	ENST00000256958	T	0.40756	1.02	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.297458	0.40908	D	0.000992	T	0.61515	0.2353	M	0.79123	2.44	0.32416	N	0.549961	D	0.69078	0.997	D	0.75484	0.986	T	0.71337	-0.4623	10	0.87932	D	0	.	9.921	0.41464	1.0:0.0:0.0:0.0	.	122	Q9Y6L6	SO1B1_HUMAN	W	122	ENSP00000256958:R122W	ENSP00000256958:R122W	R	+	1	2	SLCO1B1	21220981	1.000000	0.71417	0.999000	0.59377	0.447000	0.32167	4.138000	0.58017	1.591000	0.50007	0.254000	0.18369	AGG		PASS	0.294	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		12	68	12	68	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29671421	29671421	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:29671421C>T	ENST00000539277.1	-	13	2066	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	TMTC1_ENST00000551659.1_Missense_Mutation_p.E732K|TMTC1_ENST00000552618.1_Missense_Mutation_p.E694K|TMTC1_ENST00000256062.5_Missense_Mutation_p.E562K|TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	670						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.E562K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TACCATTCTTCAGCCATGCTG	0.473																																						uc001rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1684-1686)GAA>AAA		transmembrane and tetratricopeptide repeat							205.0	184.0	191.0					12																	29671421		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29671421C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2008G>A	12.37:g.29671421C>T	ENSP00000442046:p.Glu670Lys					TMTC1_uc001riz.2_Missense_Mutation_p.E319K|TMTC1_uc001rja.2_Missense_Mutation_p.E406K|TMTC1_uc001riy.2_Missense_Mutation_p.E18K	p.E562K	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			13	2158	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		670			TPR 6.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1684G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797311	0.90538	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.55760	0.61;0.61;0.5;0.61	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.97110	1.0;0.994;0.937	T	0.67921	-0.5545	9	.	.	.	-24.1141	15.7165	0.77672	0.0:1.0:0.0:0.0	.	670;732;18	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	K	433;562;732;694;670	ENSP00000256062:E562K;ENSP00000448112:E732K;ENSP00000449043:E694K;ENSP00000442046:E670K	.	E	-	1	0	TMTC1	29562688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.578000	0.74032	2.661000	0.90470	0.655000	0.94253	GAA		PASS	0.473	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		28	163	28	163	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31278407	31278407	+	IGR	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:31278407C>A								RP11-551L14.1 (8002 upstream) : FAM60A (155110 downstream)														p.L1194F(1)									AAATGACAGCCAACAGCACAT	0.468																																						uc010sjy.1																			1	Substitution - Missense(1)		lung(1)								c.(3580-3582)TTG>TTT		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							89.0	91.0	90.0					12																	31278407		1914	4122	6036	SO:0001628	intergenic_variant	0							g.chr12:31278407C>A																													12.37:g.31278407C>A							p.L1194F							27	3582	-									Missense_Mutation	SNP		37	c.3582G>T																																																																																				0	PASS	0.468									7	23	7	23	---	---	---	---
BICD1	636	broad.mit.edu	37	12	32459057	32459057	+	Splice_Site	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:32459057G>A	ENST00000281474.5	+	4	1108		c.e4+1		BICD1_ENST00000548411.1_Splice_Site	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)						anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCTTATGCAGGTAAGAACTTT	0.418																																						uc001rku.2																			1	Unknown(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.e4+1		bicaudal D homolog 1 isoform 1							34.0	35.0	35.0					12																	32459057		2202	4300	6502	SO:0001630	splice_region_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32459057G>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1005+1G>A	12.37:g.32459057G>A						BICD1_uc001rkv.2_Splice_Site_p.Q335_splice|BICD1_uc010skd.1_Splice_Site	p.Q335_splice	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		4	1086	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)							A8K2C3|F8W113|O43892|O43893	Splice_Site	SNP	ENST00000281474.5	37	c.1005_splice	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459677	0.84317	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5366	0.91013	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BICD1	32350324	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	9.340000	0.97038	2.674000	0.91012	0.644000	0.83932	.		PASS	0.418	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	Intron	8	24	8	24	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43944794	43944794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:43944794G>T	ENST00000389420.3	-	2	370	c.371C>A	c.(370-372)tCg>tAg	p.S124*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S124*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	124					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S124*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGCAGGTCCGAGGGCCCTGC	0.667																																						uc010skx.1																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(370-372)TCG>TAG		a disintegrin-like and metalloprotease with							20.0	23.0	22.0					12																	43944794		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944794G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.371C>A	12.37:g.43944794G>T	ENSP00000374071:p.Ser124*						p.S124*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	371	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	124					A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.371C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632871	0.47049	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.14	0.211	0.15236	.	0.740797	0.11124	N	0.597115	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	5.6651	0.17690	0.2352:0.0:0.6268:0.138	.	.	.	.	X	124	.	ENSP00000374068:S124X	S	-	2	0	ADAMTS20	42231061	0.950000	0.32346	0.006000	0.13384	0.020000	0.10135	2.218000	0.42889	0.025000	0.15241	-0.229000	0.12294	TCG		PASS	0.667	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	18	6	18	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48372394	48372394	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:48372394C>T	ENST00000380518.3	-	42	3045	c.2881G>A	c.(2881-2883)Gat>Aat	p.D961N	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.D892N	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	961	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.D892N(1)|p.D961N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGACCGTCATCTCCAGGCTCT	0.657																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2881-2883)GAT>AAT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						32.0	34.0	34.0					12																	48372394		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372394C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2881G>A	12.37:g.48372394C>T	ENSP00000369889:p.Asp961Asn					COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.D892N	p.D961N	NM_001844	NP_001835	P02458	CO2A1_HUMAN			42	3062	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	961			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2881G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346611	0.61073	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93547	-3.24;-3.24	5.33	5.33	0.75918	.	0.188893	0.44097	D	0.000485	D	0.88474	0.6446	N	0.17312	0.475	0.44956	D	0.997975	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.83781	0.0225	10	0.54805	T	0.06	.	18.6165	0.91304	0.0:1.0:0.0:0.0	.	892;961	P02458-1;P02458	.;CO2A1_HUMAN	N	961;892;892	ENSP00000369889:D961N;ENSP00000338213:D892N	ENSP00000338213:D892N	D	-	1	0	COL2A1	46658661	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.936000	0.56568	2.503000	0.84419	0.561000	0.74099	GAT		PASS	0.657	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		7	17	7	17	---	---	---	---
KANSL2	54934	broad.mit.edu	37	12	49065628	49065628	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:49065628C>A	ENST00000420613.2	-	5	710	c.663G>T	c.(661-663)aaG>aaT	p.K221N	KANSL2_ENST00000553086.1_Missense_Mutation_p.K221N|KANSL2_ENST00000357861.3_Missense_Mutation_p.K26N|KANSL2_ENST00000550347.1_Missense_Mutation_p.K404N	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	221					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.K221N(2)									ATCGGCGCTTCTTCTCCTTGA	0.423																																						uc001rrx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(661-663)AAG>AAT		hypothetical protein LOC54934							206.0	201.0	203.0					12																	49065628		1892	4103	5995	SO:0001583	missense	54934							g.chr12:49065628C>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.663G>T	12.37:g.49065628C>A	ENSP00000415436:p.Lys221Asn					C12orf41_uc001rrw.2_Missense_Mutation_p.K26N|C12orf41_uc001rrz.2_Missense_Mutation_p.K404N|C12orf41_uc001rry.2_RNA|C12orf41_uc001rrv.2_5'UTR	p.K221N	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN			5	738	-			221					Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	c.663G>T	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506886	0.85282	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000357861	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	6.05	4.23	0.50019	.	0.092388	0.64402	D	0.000001	D	0.87470	0.6185	M	0.65498	2.005	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.87578	0.988;0.844;0.998	D	0.87507	0.2437	10	0.72032	D	0.01	-14.2263	11.7282	0.51722	0.0:0.8557:0.0:0.1443	.	404;221;26	F8VX10;Q9H9L4;Q9H9L4-2	.;CL041_HUMAN;.	N	404;221;221;26	ENSP00000449747:K404N;ENSP00000415436:K221N;ENSP00000448833:K221N;ENSP00000350527:K26N	ENSP00000350527:K26N	K	-	3	2	C12orf41	47351895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.947000	0.56652	0.889000	0.36185	0.650000	0.86243	AAG		PASS	0.423	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		52	148	52	148	---	---	---	---
AQP2	359	broad.mit.edu	37	12	50349271	50349271	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:50349271G>C	ENST00000199280.3	+	4	781	c.696G>C	c.(694-696)gaG>gaC	p.E232D	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	232					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.E232D(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCTGTCGGAGCGCCTGGCAG	0.687																																						uc001rvn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(694-696)GAG>GAC		aquaporin 2							22.0	24.0	23.0					12																	50349271		2195	4296	6491	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50349271G>C		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.696G>C	12.37:g.50349271G>C	ENSP00000199280:p.Glu232Asp					AQP2_uc009zll.1_5'Flank	p.E232D	NM_000486	NP_000477	P41181	AQP2_HUMAN			4	786	+			232			Cytoplasmic (Potential).		Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.696G>C	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007958	0.35415	.	.	ENSG00000167580	ENST00000199280	D	0.87729	-2.29	4.72	2.81	0.32909	Aquaporin-like (2);	0.089158	0.47093	D	0.000259	T	0.73892	0.3645	N	0.20807	0.61	0.30748	N	0.74544	B	0.06786	0.001	B	0.06405	0.002	T	0.64300	-0.6440	9	.	.	.	-22.4998	7.6817	0.28518	0.2763:0.0:0.7237:0.0	.	232	P41181	AQP2_HUMAN	D	232	ENSP00000199280:E232D	.	E	+	3	2	AQP2	48635538	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.740000	0.38228	1.098000	0.41479	0.561000	0.74099	GAG		PASS	0.687	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		3	17	3	17	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53227729	53227729	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:53227729C>G	ENST00000330553.5	-	1	350	c.316G>C	c.(316-318)Ggg>Cgg	p.G106R		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	106	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.G106R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCAGGCCCAAACGTCTGC	0.647																																						uc001sbb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(316-318)GGG>CGG		keratin 6L							45.0	47.0	47.0					12																	53227729		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227729C>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.316G>C	12.37:g.53227729C>G	ENSP00000328358:p.Gly106Arg						p.G106R	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	349	-			106			Head.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.316G>C	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749016	0.30955	.	.	ENSG00000185640	ENST00000330553	D	0.82344	-1.6	4.28	3.39	0.38822	.	0.000000	0.49916	D	0.000140	D	0.83945	0.5364	M	0.79011	2.435	0.32836	D	0.504725	P	0.52316	0.952	P	0.47645	0.553	D	0.87687	0.2551	10	0.56958	D	0.05	.	9.6995	0.40178	0.0:0.7753:0.1422:0.0825	.	106	Q5XKE5	K2C79_HUMAN	R	106	ENSP00000328358:G106R	ENSP00000328358:G106R	G	-	1	0	KRT79	51513996	0.775000	0.28604	0.762000	0.31397	0.029000	0.11900	1.698000	0.37794	1.383000	0.46405	0.591000	0.81541	GGG		PASS	0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		11	36	11	36	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56720625	56720625	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:56720625G>T	ENST00000425394.2	-	7	1414	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	PAN2_ENST00000548043.1_Silent_p.A346A|PAN2_ENST00000440411.3_Silent_p.A346A|PAN2_ENST00000257931.5_Silent_p.A346A	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.A346A(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AATCCCCAAAGGCCAGAGCCT	0.562																																						uc001skx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1036-1038)GCC>GCA		PAN2 polyA specific ribonuclease subunit homolog							98.0	97.0	97.0					12																	56720625		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720625G>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1038C>A	12.37:g.56720625G>T						PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.A346A|PAN2_uc001sky.2_Silent_p.A346A	p.A346A	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			7	1411	-			346						Silent	SNP	ENST00000425394.2	37	c.1038C>A	CCDS44922.1																																																																																				PASS	0.562	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		4	87	4	87	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63544531	63544531	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:63544531C>A	ENST00000299178.2	-	1	191	c.86G>T	c.(85-87)aGc>aTc	p.S29I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	29					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.S29I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GGCCTCCCGGCTTGTGTTGCC	0.701																																						uc001sro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)AGC>ATC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						24.0	23.0	23.0					12																	63544531		2039	4057	6096	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544531C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.86G>T	12.37:g.63544531C>A	ENSP00000299178:p.Ser29Ile						p.S29I	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2060	-			29			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.86G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377436	0.61735	.	.	ENSG00000166148	ENST00000299178	T	0.61627	0.09	5.33	3.46	0.39613	.	2.372950	0.01113	N	0.005605	T	0.66886	0.2835	M	0.77103	2.36	0.09310	N	0.999999	B	0.33135	0.399	B	0.35039	0.194	T	0.56498	-0.7969	9	.	.	.	-27.9682	14.5019	0.67727	0.0:0.72:0.28:0.0	.	29	P37288	V1AR_HUMAN	I	29	ENSP00000299178:S29I	.	S	-	2	0	AVPR1A	61830798	0.784000	0.28713	0.005000	0.12908	0.005000	0.04900	1.519000	0.35888	0.588000	0.29660	0.561000	0.74099	AGC		PASS	0.701	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			6	34	6	34	---	---	---	---
RAB21	23011	broad.mit.edu	37	12	72167786	72167786	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:72167786C>T	ENST00000261263.3	+	4	631	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	125					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I125I(1)		large_intestine(1)|lung(4)|prostate(1)	6						GAAATGAAATCTGTTTATGTA	0.274																																						uc001swt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)ATC>ATT		RAB21, member RAS oncogene family							70.0	75.0	73.0					12																	72167786		2203	4294	6497	SO:0001819	synonymous_variant	23011				protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:72167786C>T	AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.375C>T	12.37:g.72167786C>T							p.I125I	NM_014999	NP_055814	Q9UL25	RAB21_HUMAN			4	627	+			125					Q14466|Q569H3	Silent	SNP	ENST00000261263.3	37	c.375C>T	CCDS9003.1																																																																																				PASS	0.274	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			9	45	9	45	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	89992912	89992912	+	Silent	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:89992912C>G	ENST00000428670.3	-	20	3789	c.3333G>C	c.(3331-3333)ctG>ctC	p.L1111L	ATP2B1_ENST00000359142.3_Silent_p.L1111L|ATP2B1_ENST00000393164.2_Silent_p.L854L|ATP2B1_ENST00000348959.3_Silent_p.L1075L|ATP2B1_ENST00000261173.2_Silent_p.L1111L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1111	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.L1111L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGATTCTGTTCAGACCTCTAA	0.502																																						uc001tbh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(3331-3333)CTG>CTC		plasma membrane calcium ATPase 1 isoform 1b							123.0	111.0	115.0					12																	89992912		2203	4300	6503	SO:0001819	synonymous_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89992912C>G	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3333G>C	12.37:g.89992912C>G						ATP2B1_uc001tbg.2_Silent_p.L1111L|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_Silent_p.L745L	p.L1111L	NM_001682	NP_001673	P20020	AT2B1_HUMAN			19	3514	-			1111			Cytoplasmic (Potential).|Calmodulin-binding subdomain A.		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	c.3333G>C	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	3.558	-0.090356	0.07053	.	.	ENSG00000070961	ENST00000550716	.	.	.	5.99	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8246	7.045	0.25040	0.0:0.7192:0.0:0.2808	.	.	.	.	S	92	.	.	X	-	2	2	ATP2B1	88517043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.681000	0.25320	1.544000	0.49359	0.655000	0.94253	TGA		PASS	0.502	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		17	80	17	80	---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98941352	98941352	+	Splice_Site	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:98941352G>T	ENST00000556029.1	+	9	1437	c.1081G>T	c.(1081-1083)Gct>Tct	p.A361S	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Splice_Site_p.A321S|TMPO_ENST00000393053.2_Splice_Site_p.A252S	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	361	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.A361S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCCAACAGTGCTAGTTGCCG	0.398																																						uc001tfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1081-1083)GCT>TCT		thymopoietin isoform beta							46.0	50.0	49.0					12																	98941352		2203	4300	6503	SO:0001630	splice_region_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941352G>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1080-1G>T	12.37:g.98941352G>T						TMPO_uc001tfk.2_Missense_Mutation_p.A252S|TMPO_uc001tfl.2_RNA	p.A361S	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN			9	1318	+			361			Nucleoplasmic (Potential).|Binds lamins B.|NAKAP95-binding C.		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1081G>T	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152097	0.78001	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.81247	-0.57;-0.68;-0.6;-1.47	5.35	5.35	0.76521	.	.	.	.	.	D	0.89501	0.6733	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.987;0.991	D	0.86724	0.1944	9	0.25751	T	0.34	.	19.4355	0.94792	0.0:0.0:1.0:0.0	.	285;361	Q59G12;P42167	.;LAP2B_HUMAN	S	361;321;252;196	ENSP00000450627:A361S;ENSP00000340251:A321S;ENSP00000376773:A252S;ENSP00000451552:A196S	ENSP00000340251:A361S	A	+	1	0	TMPO	97465483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.238000	0.78173	2.668000	0.90789	0.655000	0.94253	GCT		PASS	0.398	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	Missense_Mutation	7	55	7	55	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100729640	100729640	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:100729640G>C	ENST00000360820.2	+	16	2418	c.1981G>C	c.(1981-1983)Gag>Cag	p.E661Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	661					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.E665Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GACTGGCAGTGAGTCCGAAAA	0.338																																						uc001thn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(1981-1983)GAG>CAG		SCY1-like 2 protein							92.0	102.0	99.0					12																	100729640		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100729640G>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1981G>C	12.37:g.100729640G>C	ENSP00000354061:p.Glu661Gln					SCYL2_uc001thm.1_Missense_Mutation_p.E661Q	p.E661Q	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			16	2031	+			661			Potential.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1981G>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	4.183	0.032638	0.08101	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.30182	1.8;1.54	4.69	4.69	0.59074	.	1.203820	0.05692	N	0.592283	T	0.18002	0.0432	N	0.08118	0	0.28432	N	0.917237	B	0.26445	0.149	B	0.28305	0.088	T	0.11348	-1.0591	10	0.14656	T	0.56	.	8.9589	0.35834	0.0996:0.0:0.9004:0.0	.	661	Q6P3W7	SCYL2_HUMAN	Q	661	ENSP00000448366:E661Q;ENSP00000354061:E661Q	ENSP00000354061:E661Q	E	+	1	0	SCYL2	99253771	1.000000	0.71417	0.960000	0.40013	0.113000	0.19764	2.257000	0.43240	2.575000	0.86900	0.655000	0.94253	GAG		PASS	0.338	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		21	94	21	94	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100774544	100774544	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:100774544A>T	ENST00000323346.5	+	2	480	c.167A>T	c.(166-168)cAg>cTg	p.Q56L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q56L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	56					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.Q56L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGGCCGGTGCAGACGTCCAGG	0.507																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(166-168)CAG>CTG		solute carrier family 17 (sodium-dependent							140.0	138.0	138.0					12																	100774544		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774544A>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.167A>T	12.37:g.100774544A>T	ENSP00000316909:p.Gln56Leu					SLC17A8_uc009ztx.2_Missense_Mutation_p.Q56L	p.Q56L	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			2	480	+			56			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.167A>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	A	1.787	-0.480410	0.04383	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.68479	0.06;-0.33	5.27	-6.16	0.02098	Major facilitator superfamily domain, general substrate transporter (1);	0.658136	0.15489	N	0.259688	T	0.34483	0.0899	N	0.22421	0.69	0.23227	N	0.998089	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.39623	-0.9605	10	0.09590	T	0.72	.	0.3823	0.00397	0.2725:0.2811:0.1723:0.2741	.	56;56	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	L	56	ENSP00000316909:Q56L;ENSP00000376715:Q56L	ENSP00000316909:Q56L	Q	+	2	0	SLC17A8	99298675	0.000000	0.05858	0.014000	0.15608	0.001000	0.01503	-0.699000	0.05087	-1.112000	0.02984	-1.834000	0.00590	CAG		PASS	0.507	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		24	106	24	106	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100813829	100813829	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:100813829T>A	ENST00000323346.5	+	12	1975	c.1662T>A	c.(1660-1662)aaT>aaA	p.N554K	SLC17A8_ENST00000392989.3_Missense_Mutation_p.N504K|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	554					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.N554K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCTCCCAGAATTGTGAAGTCC	0.453																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1660-1662)AAT>AAA		solute carrier family 17 (sodium-dependent							67.0	62.0	64.0					12																	100813829		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100813829T>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1662T>A	12.37:g.100813829T>A	ENSP00000316909:p.Asn554Lys					SLC17A8_uc009ztx.2_Missense_Mutation_p.N504K	p.N554K	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			12	1975	+			554			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1662T>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843125	0.16963	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.68479	0.1;-0.33	4.8	-0.308	0.12773	.	0.417556	0.27491	N	0.019125	T	0.48696	0.1514	L	0.38175	1.15	0.36263	D	0.854671	B;B	0.28933	0.138;0.228	B;B	0.25987	0.065;0.053	T	0.42932	-0.9422	10	0.13470	T	0.59	.	10.6784	0.45799	0.0:0.4438:0.0:0.5562	.	554;504	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	554;504	ENSP00000316909:N554K;ENSP00000376715:N504K	ENSP00000316909:N554K	N	+	3	2	SLC17A8	99337960	0.009000	0.17119	0.995000	0.50966	0.172000	0.22775	-0.112000	0.10791	-0.225000	0.09913	-0.326000	0.08463	AAT		PASS	0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		4	23	4	23	---	---	---	---
SELPLG	6404	broad.mit.edu	37	12	109017554	109017554	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:109017554G>A	ENST00000550948.1	-	2	754	c.530C>T	c.(529-531)gCa>gTa	p.A177V	SELPLG_ENST00000228463.6_Missense_Mutation_p.A193V|SELPLG_ENST00000388962.3_Missense_Mutation_p.A167V			Q14242	SELPL_HUMAN	selectin P ligand	177	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.A167V(1)|p.A177V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TTCCGTGGCTGCTGGTGGAGT	0.627																																						uc001tni.2																			2	Substitution - Missense(2)		lung(2)		0						c.(529-531)GCA>GTA		selectin P ligand							173.0	132.0	146.0					12																	109017554		2203	4300	6503	SO:0001583	missense	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017554G>A		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.530C>T	12.37:g.109017554G>A	ENSP00000447752:p.Ala177Val					SELPLG_uc001tnh.2_Missense_Mutation_p.A167V|SELPLG_uc010sxe.1_Missense_Mutation_p.A193V	p.A177V	NM_003006	NP_002997	Q14242	SELPL_HUMAN			2	690	-			177			Extracellular (Potential).|12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.530C>T	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	G	8.659	0.900154	0.17686	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.29917	1.55;1.55;1.55	3.45	1.12	0.20585	.	0.882532	0.09396	N	0.807869	T	0.18841	0.0452	L	0.35341	1.055	0.09310	N	1	B;B;B	0.33044	0.395;0.244;0.244	B;B;B	0.29353	0.101;0.057;0.057	T	0.22173	-1.0224	10	0.24483	T	0.36	.	5.2307	0.15420	0.2342:0.0:0.6145:0.1513	.	193;177;137	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	V	167;177;193	ENSP00000373614:A167V;ENSP00000447752:A177V;ENSP00000228463:A193V	ENSP00000228463:A193V	A	-	2	0	SELPLG	107541683	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.084000	0.14891	0.263000	0.21812	0.491000	0.48974	GCA		PASS	0.627	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			16	56	16	56	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115120793	115120793	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:115120793C>T	ENST00000257566.3	-	1	602	c.213G>A	c.(211-213)gcG>gcA	p.A71A	TBX3_ENST00000349155.2_Silent_p.A71A	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	71					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A71A(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGGTCTCGGCCGCCCCCACCA	0.697																																						uc001tvt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(211-213)GCG>GCA		T-box 3 protein isoform 2							17.0	21.0	19.0					12																	115120793		2199	4294	6493	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120793C>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.213G>A	12.37:g.115120793C>T						TBX3_uc001tvu.1_Silent_p.A71A|TBX3_uc010syw.1_Silent_p.A71A	p.A71A	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1177	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		71					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.213G>A	CCDS9176.1																																																																																				PASS	0.697	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		9	16	9	16	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115120862	115120862	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:115120862G>T	ENST00000257566.3	-	1	533	c.144C>A	c.(142-144)ccC>ccA	p.P48P	TBX3_ENST00000349155.2_Silent_p.P48P	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	48					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P48P(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCGCGCCGTTGGGAGGCAGCG	0.711																																						uc001tvt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(142-144)CCC>CCA		T-box 3 protein isoform 2							17.0	20.0	19.0					12																	115120862		2157	4224	6381	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120862G>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.144C>A	12.37:g.115120862G>T						TBX3_uc001tvu.1_Silent_p.P48P|TBX3_uc010syw.1_Silent_p.P48P	p.P48P	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1108	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		48					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.144C>A	CCDS9176.1																																																																																				PASS	0.711	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		8	22	8	22	---	---	---	---
ZNF664	144348	broad.mit.edu	37	12	124496735	124496735	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr12:124496735G>T	ENST00000539644.1	+	6	1874	c.44G>T	c.(43-45)aGa>aTa	p.R15I	ZNF664_ENST00000337815.4_Missense_Mutation_p.R15I|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000392404.3_Missense_Mutation_p.R15I|ZNF664_ENST00000538932.2_Missense_Mutation_p.R15I			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	15					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.R15I(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTCTCTGAGAGAGCAGATCTT	0.353																																						uc001ufz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)AGA>ATA		zinc finger protein 664							60.0	65.0	63.0					12																	124496735		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496735G>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.44G>T	12.37:g.124496735G>T	ENSP00000441405:p.Arg15Ile					ZNF664_uc001uga.2_Missense_Mutation_p.R15I|ZNF664_uc001ugb.2_Missense_Mutation_p.R15I	p.R15I	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	1874	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		15			C2H2-type 1.		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.44G>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203972	0.38905	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39834	N	0.001243	T	0.27798	0.0684	L	0.52364	1.645	0.45541	D	0.998499	B	0.02656	0.0	B	0.13407	0.009	T	0.03240	-1.1057	9	.	.	.	-30.5446	13.0674	0.59041	0.0:0.0:1.0:0.0	.	15	Q8N3J9	ZN664_HUMAN	I	15	ENSP00000441405:R15I;ENSP00000376205:R15I;ENSP00000440645:R15I;ENSP00000337320:R15I	.	R	+	2	0	ZNF664	123062688	0.011000	0.17503	1.000000	0.80357	0.997000	0.91878	1.199000	0.32235	2.793000	0.96121	0.655000	0.94253	AGA		PASS	0.353	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		11	34	11	34	---	---	---	---
GJB2	2706	broad.mit.edu	37	13	20763693	20763693	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:20763693G>T	ENST00000382844.1	-	1	226	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	GJB2_ENST00000382848.4_Missense_Mutation_p.L10M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	10					cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.L10M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ACACCCCCCAGGATCGTCTGC	0.507									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001umy.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CD054340	GJB2	D		c.(28-30)CTG>ATG		gap junction protein beta 2							106.0	91.0	96.0					13																	20763693		2203	4300	6503	SO:0001583	missense	2706	Keratitis_Ichthyosis_and_Deafness_syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763693G>T	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.28C>A	13.37:g.20763693G>T	ENSP00000372295:p.Leu10Met		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743		p.L10M	NM_004004	NP_003995	P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	2	243	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	10			Cytoplasmic (Potential).		Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP	ENST00000382844.1	37	c.28C>A	CCDS9290.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142025	0.37825	.	.	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.99591	-6.24;-6.24	5.36	2.32	0.28847	Connexin, N-terminal (1);	0.110691	0.42053	D	0.000767	D	0.99396	0.9787	M	0.91663	3.23	0.48087	D	0.999584	P	0.44521	0.837	P	0.55999	0.789	D	0.99612	1.0981	10	0.87932	D	0	.	3.2573	0.06836	0.5612:0.0:0.2385:0.2002	.	10	P29033	CXB2_HUMAN	M	10	ENSP00000372299:L10M;ENSP00000372295:L10M	ENSP00000372295:L10M	L	-	1	2	GJB2	19661693	0.161000	0.22892	0.912000	0.35992	0.172000	0.22775	0.046000	0.14035	0.268000	0.21939	0.655000	0.94253	CTG		PASS	0.507	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			25	60	25	60	---	---	---	---
SGCG	6445	broad.mit.edu	37	13	23898647	23898647	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:23898647C>T	ENST00000218867.3	+	8	967	c.843C>T	c.(841-843)acC>acT	p.T281T	SGCG_ENST00000537476.1_Silent_p.T281T|SGCG_ENST00000545013.1_Silent_p.T281T	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	281					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.T281T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GTGTGAGCACCACGTGCCAGG	0.627																																						uc001uom.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(841-843)ACC>ACT		gamma sarcoglycan							97.0	74.0	81.0					13																	23898647		2203	4300	6503	SO:0001819	synonymous_variant	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23898647C>T	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.843C>T	13.37:g.23898647C>T						SGCG_uc009zzv.2_Silent_p.T281T|SGCG_uc009zzw.2_Silent_p.T281T	p.T281T	NM_000231	NP_000222	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	8	998	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	281			Extracellular (Potential).		Q32M32|Q5T9J6	Silent	SNP	ENST00000218867.3	37	c.843C>T	CCDS9299.1																																																																																				PASS	0.627	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		4	16	4	16	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25280474	25280474	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:25280474C>T	ENST00000381946.3	+	15	2209	c.2042C>T	c.(2041-2043)aCt>aTt	p.T681I	ATP12A_ENST00000218548.6_Missense_Mutation_p.T687I|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	681					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.T681I(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCTGTGGTGACTGGCATGGAG	0.557																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2041-2043)ACT>ATT		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						107.0	89.0	95.0					13																	25280474		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25280474C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2042C>T	13.37:g.25280474C>T	ENSP00000371372:p.Thr681Ile					ATP12A_uc010aaa.2_Missense_Mutation_p.T687I	p.T681I	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	15	2229	+		Lung SC(185;0.0225)|Breast(139;0.077)	681			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2042C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335888	0.60853	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.94687	-3.49;-3.48	5.9	4.11	0.48088	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.068596	0.64402	D	0.000015	D	0.95934	0.8676	M	0.87097	2.86	0.37560	D	0.919023	P;P	0.48911	0.917;0.917	P;P	0.54856	0.642;0.762	D	0.96218	0.9158	10	0.87932	D	0	.	7.8022	0.29180	0.2751:0.5656:0.1594:0.0	.	687;681	P54707-2;P54707	.;AT12A_HUMAN	I	687;681	ENSP00000218548:T687I;ENSP00000371372:T681I	ENSP00000218548:T687I	T	+	2	0	ATP12A	24178474	0.997000	0.39634	0.924000	0.36721	0.425000	0.31504	4.687000	0.61708	2.786000	0.95864	0.563000	0.77884	ACT		PASS	0.557	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		7	23	7	23	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599365	29599365	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:29599365T>C	ENST00000431530.3	+	1	618	c.560T>C	c.(559-561)tTg>tCg	p.L187S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	177						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L187S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGCATTCTTTGGAAAGAGCA	0.537																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)TTG>TCG		hypothetical protein LOC23281 isoform a							63.0	67.0	66.0					13																	29599365		2052	4199	6251	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599365T>C	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.560T>C	13.37:g.29599365T>C	ENSP00000392057:p.Leu187Ser						p.L187S	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	618	+			177					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.560T>C	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	10.01	1.233865	0.22626	.	.	ENSG00000132938	ENST00000431530	T	0.32515	1.45	4.77	2.34	0.29019	.	0.631960	0.12922	N	0.428091	T	0.32556	0.0833	L	0.47716	1.5	0.09310	N	0.999996	P	0.47302	0.893	P	0.47981	0.563	T	0.09530	-1.0670	9	.	.	.	.	9.1949	0.37222	0.0:0.118:0.0:0.882	.	177	Q5JR59	MTUS2_HUMAN	S	187	ENSP00000392057:L187S	.	L	+	2	0	MTUS2	28497365	0.990000	0.36364	0.001000	0.08648	0.042000	0.13812	1.957000	0.40392	0.206000	0.20587	0.448000	0.29417	TTG		PASS	0.537	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	34	6	34	---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32363281	32363281	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:32363281C>A	ENST00000298386.2	+	14	1167	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	RXFP2_ENST00000380314.1_Missense_Mutation_p.P342T	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	366					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.P366T(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GATAGAGATTCCAAATATAAA	0.338																																						uc001utt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)CCA>ACA		relaxin/insulin-like family peptide receptor 2							90.0	86.0	87.0					13																	32363281		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32363281C>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1096C>A	13.37:g.32363281C>A	ENSP00000298386:p.Pro366Thr					RXFP2_uc010aba.2_Missense_Mutation_p.P325T	p.P366T	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	14	1167	+		Lung SC(185;0.0262)	366			Extracellular (Potential).|LRR 10.		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1096C>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987669	0.35036	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.03663	4.46;3.85	5.5	5.5	0.81552	.	0.050626	0.85682	D	0.000000	T	0.04182	0.0116	L	0.43646	1.37	0.53688	D	0.999972	B;B	0.28439	0.212;0.107	B;B	0.22601	0.04;0.027	T	0.46541	-0.9184	10	0.10902	T	0.67	.	14.895	0.70636	0.1436:0.8564:0.0:0.0	.	342;366	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	T	342;366	ENSP00000369670:P342T;ENSP00000298386:P366T	ENSP00000298386:P366T	P	+	1	0	RXFP2	31261281	0.818000	0.29161	1.000000	0.80357	0.996000	0.88848	0.023000	0.13533	2.586000	0.87340	0.591000	0.81541	CCA		PASS	0.338	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		13	48	13	48	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39264179	39264179	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:39264179G>T	ENST00000280481.7	+	1	2914	c.2698G>T	c.(2698-2700)Gtt>Ttt	p.V900F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	900					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V900F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACAGGGCCGAGTTTCCTATGC	0.512																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(2698-2700)GTT>TTT		FRAS1-related extracellular matrix protein 2							81.0	65.0	71.0					13																	39264179		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264179G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2698G>T	13.37:g.39264179G>T	ENSP00000280481:p.Val900Phe						p.V900F	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3007	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	900			CSPG 5.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2698G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381911	0.24944	.	.	ENSG00000150893	ENST00000280481	T	0.27256	1.68	5.67	-1.15	0.09709	.	0.355021	0.32687	N	0.005768	T	0.28928	0.0718	M	0.82517	2.595	0.20638	N	0.999872	P	0.40660	0.726	B	0.40066	0.318	T	0.24693	-1.0153	10	0.87932	D	0	.	8.0861	0.30773	0.4292:0.12:0.4507:0.0	.	900	Q5SZK8	FREM2_HUMAN	F	900	ENSP00000280481:V900F	ENSP00000280481:V900F	V	+	1	0	FREM2	38162179	0.000000	0.05858	0.344000	0.25628	0.420000	0.31355	-0.194000	0.09559	-0.082000	0.12640	-0.367000	0.07326	GTT		PASS	0.512	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		7	8	7	8	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96642288	96642288	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:96642288G>C	ENST00000376747.3	-	8	940	c.870C>G	c.(868-870)ttC>ttG	p.F290L	UGGT2_ENST00000397618.3_Missense_Mutation_p.F290L|UGGT2_ENST00000376714.3_Intron|UGGT2_ENST00000467305.1_5'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	290					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.F290L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GGTATTTTTGGAATGCTGTCA	0.318																																						uc001vmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(868-870)TTC>TTG		UDP-glucose ceramide glucosyltransferase-like 2							176.0	176.0	176.0					13																	96642288		2201	4296	6497	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96642288G>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.870C>G	13.37:g.96642288G>C	ENSP00000365938:p.Phe290Leu					UGGT2_uc010afo.2_Intron|UGGT2_uc001vmv.2_Missense_Mutation_p.F290L|UGGT2_uc010afp.2_Missense_Mutation_p.F290L	p.F290L	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			8	1040	-			290					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.870C>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	9.334	1.061212	0.19987	.	.	ENSG00000102595	ENST00000376747;ENST00000397618	T;T	0.19532	2.14;2.14	5.37	2.52	0.30459	.	0.110725	0.64402	D	0.000005	T	0.10208	0.0250	N	0.26130	0.795	0.80722	D	1	B;B;B	0.25486	0.127;0.127;0.005	B;B;B	0.29524	0.103;0.103;0.013	T	0.13442	-1.0509	10	0.02654	T	1	-13.4819	4.3926	0.11348	0.2628:0.2714:0.4659:0.0	.	290;290;290	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	L	290	ENSP00000365938:F290L;ENSP00000380743:F290L	ENSP00000365938:F290L	F	-	3	2	UGGT2	95440289	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.677000	0.25262	1.403000	0.46800	0.591000	0.81541	TTC		PASS	0.318	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		29	116	29	116	---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	97485053	97485053	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr13:97485053G>C	ENST00000376705.2	+	2	1041	c.1017G>C	c.(1015-1017)caG>caC	p.Q339H		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	339					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.Q339H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCCTGTTGCAGAGTGCAAAGA	0.478																																						uc001vmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1015-1017)CAG>CAC		heparan sulfate 6-O-sulfotransferase 3							102.0	104.0	103.0					13																	97485053		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485053G>C	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1017G>C	13.37:g.97485053G>C	ENSP00000365895:p.Gln339His						p.Q339H	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	1041	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		339			Lumenal (Potential).		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1017G>C	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779376	0.49891	.	.	ENSG00000185352	ENST00000376705	T	0.74106	-0.81	5.82	4.94	0.65067	.	0.456401	0.24363	N	0.039170	T	0.72285	0.3441	N	0.24115	0.695	0.45747	D	0.998648	D	0.62365	0.991	P	0.59115	0.852	T	0.74334	-0.3699	10	0.72032	D	0.01	-20.6263	8.6544	0.34055	0.2307:0.0:0.7693:0.0	.	339	Q8IZP7	H6ST3_HUMAN	H	339	ENSP00000365895:Q339H	ENSP00000365895:Q339H	Q	+	3	2	HS6ST3	96283054	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.578000	0.46051	1.366000	0.46076	0.655000	0.94253	CAG		PASS	0.478	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		15	56	15	56	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19559057	19559057	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:19559057C>T	ENST00000409832.3	+	3	755	c.703C>T	c.(703-705)Cca>Tca	p.P235S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	235								p.P235S(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCCGAATATTCCAGATGAGTA	0.398																																						uc001vuz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(703-705)CCA>TCA		POTE ankyrin domain family, member G							61.0	67.0	65.0					14																	19559057		1284	2820	4104	SO:0001583	missense	404785							g.chr14:19559057C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.703C>T	14.37:g.19559057C>T	ENSP00000386971:p.Pro235Ser					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.P235S	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			3	755	+			235					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.703C>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	12.04	1.819169	0.32145	.	.	ENSG00000222036	ENST00000409832	T	0.52526	0.66	1.87	-3.73	0.04398	Ankyrin repeat-containing domain (3);	6.480000	0.00810	N	0.001498	T	0.38904	0.1058	N	0.10945	0.07	0.09310	N	1	P	0.37207	0.587	P	0.50378	0.639	T	0.22977	-1.0201	10	0.29301	T	0.29	.	5.4961	0.16804	0.251:0.5909:0.1582:0.0	.	235	Q6S5H5	POTEG_HUMAN	S	235	ENSP00000386971:P235S	ENSP00000386971:P235S	P	+	1	0	POTEG	18629057	0.001000	0.12720	0.000000	0.03702	0.118000	0.20060	0.858000	0.27845	-1.453000	0.01928	0.184000	0.17185	CCA		PASS	0.398	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		10	176	10	176	---	---	---	---
RNASE10	338879	broad.mit.edu	37	14	20978688	20978688	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:20978688G>T	ENST00000328444.5	+	1	77	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W	RNASE10_ENST00000430083.1_Missense_Mutation_p.G48W	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	20					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.G20W(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		gctgggcctggggatgggcct	0.507																																						uc010tlj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GGG>TGG		ribonuclease, RNase A family, 10 (non-active)							125.0	129.0	128.0					14																	20978688		2203	4300	6503	SO:0001583	missense	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20978688G>T		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.58G>T	14.37:g.20978688G>T	ENSP00000333358:p.Gly20Trp					RNASE10_uc001vxp.2_Missense_Mutation_p.G48W	p.G20W	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	58	+	all_cancers(95;0.00123)		20					A2RUQ3|B4DKY4	Missense_Mutation	SNP	ENST00000328444.5	37	c.58G>T	CCDS32035.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234194	0.58886	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.26810	1.71;1.79	4.29	4.29	0.51040	.	0.773939	0.12024	N	0.506612	T	0.40347	0.1113	L	0.34521	1.04	0.36238	D	0.853076	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41484	-0.9506	10	0.87932	D	0	-9.16	12.5537	0.56242	0.0:0.0:1.0:0.0	.	20;48	Q5GAN6;B4DKY4	RNS10_HUMAN;.	W	48;20	ENSP00000392996:G48W;ENSP00000333358:G20W	ENSP00000333358:G20W	G	+	1	0	RNASE10	20048528	1.000000	0.71417	0.970000	0.41538	0.810000	0.45777	2.608000	0.46308	2.673000	0.90976	0.655000	0.94253	GGG		PASS	0.507	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		22	128	22	128	---	---	---	---
RNASE8	122665	broad.mit.edu	37	14	21526420	21526420	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:21526420G>A	ENST00000308227.2	+	1	440	c.369G>A	c.(367-369)aaG>aaA	p.K123K	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	123					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)	p.K123K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		ACAAAGAGAAGCACCTGAACA	0.532																																						uc010tlm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)AAG>AAA		ribonuclease, RNase A family, 8 precursor							164.0	138.0	147.0					14																	21526420		2203	4300	6503	SO:0001819	synonymous_variant	122665					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21526420G>A	AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"""Ribonucleases, RNase A"""	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.369G>A	14.37:g.21526420G>A						NDRG2_uc010tll.1_Intron	p.K123K	NM_138331	NP_612204	Q8TDE3	RNAS8_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)	1	369	+	all_cancers(95;0.000759)		123					B2RPP6|B2RPP7	Silent	SNP	ENST00000308227.2	37	c.369G>A	CCDS9567.1																																																																																				PASS	0.532	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073925.3	NM_138331		76	78	76	78	---	---	---	---
SLC22A17	51310	broad.mit.edu	37	14	23816673	23816673	+	Silent	SNP	G	G	A	rs199623988		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:23816673G>A	ENST00000206544.8	-	7	1548	c.1212C>T	c.(1210-1212)aaC>aaT	p.N404N	SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000354772.3_Intron|SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000397267.1_Silent_p.N404N	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	404					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)	p.N404N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGCACCTCTGTTGGGGTTCC	0.607																																						uc001wjl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1210-1212)AAC>AAT		solute carrier family 22, member 17 isoform a							46.0	40.0	42.0					14																	23816673		2203	4299	6502	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23816673G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.1212C>T	14.37:g.23816673G>A						SLC22A17_uc010akk.2_Intron|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Intron	p.N404N	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	7	1268	-	all_cancers(95;7.12e-06)		404					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	c.1212C>T	CCDS9593.1																																																																																				PASS	0.607	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		16	16	16	16	---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37739624	37739624	+	Splice_Site	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:37739624G>T	ENST00000327441.7	+	7	853		c.e7-1		MIPOL1_ENST00000537471.1_Splice_Site|MIPOL1_ENST00000539174.2_Splice_Site|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539062.2_Splice_Site|MIPOL1_ENST00000545536.1_Splice_Site|MIPOL1_ENST00000556451.1_Splice_Site|MIPOL1_ENST00000396294.2_Splice_Site	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1							nucleus (GO:0005634)		p.?(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATGTGCTTTAGCTTCAGCAGA	0.274																																						uc001wuc.2																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e7-1		mirror-image polydactyly 1							35.0	36.0	35.0					14																	37739624		2203	4299	6502	SO:0001630	splice_region_variant	145282							g.chr14:37739624G>T	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.388-1G>T	14.37:g.37739624G>T						MIPOL1_uc010amr.2_Splice_Site|MIPOL1_uc001wub.3_Splice_Site_p.L99_splice|MIPOL1_uc001wud.2_Splice_Site_p.L130_splice|MIPOL1_uc010ams.2_Splice_Site_p.L130_splice|MIPOL1_uc001wue.2_Splice_Site_p.L99_splice|MIPOL1_uc010amt.2_Intron	p.L130_splice	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	7	891	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)							D3DSA4|Q7Z3J0|Q8IV14	Splice_Site	SNP	ENST00000327441.7	37	c.388_splice	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816031	0.32145	.	.	ENSG00000151338	ENST00000327441;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4907	0.90846	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIPOL1	36809375	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.516000	0.81772	2.356000	0.79943	0.650000	0.86243	.		PASS	0.274	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731	Intron	9	48	9	48	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360510	42360510	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:42360510G>T	ENST00000298119.4	+	4	2632	c.1443G>T	c.(1441-1443)atG>atT	p.M481I	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	481	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.M481I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGGAACTATGTATGACTTGT	0.408										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1441-1443)ATG>ATT		leucine rich repeat and fibronectin type III							179.0	144.0	156.0					14																	42360510		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360510G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1443G>T	14.37:g.42360510G>T	ENSP00000298119:p.Met481Ile	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.M481I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2641	+			481			Extracellular (Potential).|Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1443G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388517	0.25118	.	.	ENSG00000165379	ENST00000298119	T	0.67698	-0.28	5.88	1.58	0.23477	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.208081	0.33916	N	0.004434	T	0.46092	0.1375	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.42905	T	0.14	.	6.0365	0.19710	0.254:0.1424:0.6035:0.0	.	481	Q96NI6	LRFN5_HUMAN	I	481	ENSP00000298119:M481I	ENSP00000298119:M481I	M	+	3	0	LRFN5	41430260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.877000	0.28106	0.828000	0.34709	0.650000	0.86243	ATG		PASS	0.408	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		36	102	36	102	---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510557	55510557	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:55510557G>T	ENST00000395472.2	+	2	1130	c.798G>T	c.(796-798)acG>acT	p.T266T	SOCS4_ENST00000339298.2_Silent_p.T266T|SOCS4_ENST00000555846.1_Silent_p.T266T	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	266					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.T266T(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AATACCACACGCAGATTGATT	0.418																																						uc001xbo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(796-798)ACG>ACT		suppressor of cytokine signaling 4							136.0	117.0	124.0					14																	55510557		2203	4300	6503	SO:0001819	synonymous_variant	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510557G>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.798G>T	14.37:g.55510557G>T						SOCS4_uc001xbp.2_Silent_p.T266T	p.T266T	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			3	1363	+			266						Silent	SNP	ENST00000395472.2	37	c.798G>T	CCDS9722.1																																																																																				PASS	0.418	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			9	49	9	49	---	---	---	---
NAA30	122830	broad.mit.edu	37	14	57857946	57857946	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:57857946G>T	ENST00000556492.1	+	2	425	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	91					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.E91*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GATTAGCCCCGAACTGCGGCA	0.711																																						uc001xcx.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(271-273)GAA>TAA		N-acetyltransferase 12							18.0	22.0	21.0					14																	57857946		1969	3961	5930	SO:0001587	stop_gained	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57857946G>T	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.271G>T	14.37:g.57857946G>T	ENSP00000452521:p.Glu91*					NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	p.E91*	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN			2	425	+			91					Q0IIN2	Nonsense_Mutation	SNP	ENST00000556492.1	37	c.271G>T	CCDS32088.1	.	.	.	.	.	.	.	.	.	.	G	38	7.039246	0.98021	.	.	ENSG00000139977	ENST00000556492;ENST00000395257	.	.	.	4.79	4.79	0.61399	.	0.201380	0.35525	N	0.003158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.5	18.0445	0.89328	0.0:0.0:1.0:0.0	.	.	.	.	X	91;54	.	ENSP00000298406:E91X	E	+	1	0	NAA30	56927699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.498000	0.84270	0.655000	0.94253	GAA		PASS	0.711	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		4	27	4	27	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62462942	62462942	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:62462942G>C	ENST00000430451.2	+	1	402	c.205G>C	c.(205-207)Gat>Cat	p.D69H	SYT16_ENST00000446982.2_Missense_Mutation_p.D69H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	69					exocytosis (GO:0006887)			p.D69H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTACTTTGAAGATGAAGAACA	0.368																																						uc001xfu.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(205-207)GAT>CAT		synaptotagmin XIV-like							158.0	156.0	156.0					14																	62462942		1888	4125	6013	SO:0001583	missense	83851							g.chr14:62462942G>C	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.205G>C	14.37:g.62462942G>C	ENSP00000394700:p.Asp69His					SYT16_uc010tsd.1_Missense_Mutation_p.D69H	p.D69H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	1	402	+			69					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.205G>C	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441370	0.43326	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.35048	1.33;3.65	5.34	2.51	0.30379	.	0.264623	0.27147	N	0.020701	T	0.31231	0.0790	L	0.51422	1.61	0.25740	N	0.985178	B;B	0.21606	0.058;0.009	B;B	0.21546	0.035;0.005	T	0.29882	-0.9997	10	0.87932	D	0	-18.2252	9.0062	0.36113	0.1347:0.1218:0.7435:0.0	.	69;69	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	69	ENSP00000388023:D69H;ENSP00000394700:D69H	ENSP00000394700:D69H	D	+	1	0	SYT16	61532695	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	1.518000	0.35877	0.383000	0.24910	-0.182000	0.12963	GAT		PASS	0.368	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		28	95	28	95	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73464678	73464678	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:73464678A>G	ENST00000556143.1	-	3	1549	c.829T>C	c.(829-831)Ttc>Ctc	p.F277L	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.F277L|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.F277L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	277					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.F277L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGGAATTTGAAGAGGTCGTTA	0.532																																						uc001xnm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(829-831)TTC>CTC		zinc finger, FYVE domain containing 1 isoform 1							106.0	95.0	99.0					14																	73464678		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464678A>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.829T>C	14.37:g.73464678A>G	ENSP00000450742:p.Phe277Leu					ZFYVE1_uc010arj.2_Missense_Mutation_p.F277L	p.F277L	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1469	-		all_lung(585;1.33e-09)	277					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.829T>C	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	A	33	5.244316	0.95272	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.57107	0.42;0.42;0.42	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.997;0.993	D;P	0.71184	0.972;0.875	T	0.76977	-0.2759	10	0.87932	D	0	-23.2808	16.1726	0.81828	1.0:0.0:0.0:0.0	.	277;277	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	L	277	ENSP00000452442:F277L;ENSP00000326921:F277L;ENSP00000450742:F277L	ENSP00000326921:F277L	F	-	1	0	ZFYVE1	72534431	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.232000	0.73038	0.482000	0.46254	TTC		PASS	0.532	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		4	30	4	30	---	---	---	---
IFT43	112752	broad.mit.edu	37	14	76455252	76455252	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:76455252C>G	ENST00000314067.6	+	2	113	c.79C>G	c.(79-81)Caa>Gaa	p.Q27E	IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000556742.1_Missense_Mutation_p.Q27E|IFT43_ENST00000238628.6_Missense_Mutation_p.Q27E	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	27					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)		p.Q27E(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCGCCGAGCTCAACAGGAGTC	0.507																																						uc010asm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)CAA>GAA		hypothetical protein LOC112752 isoform 2							120.0	118.0	119.0					14																	76455252		2203	4300	6503	SO:0001583	missense	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76455252C>G	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.79C>G	14.37:g.76455252C>G	ENSP00000324177:p.Gln27Glu					C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Missense_Mutation_p.Q27E|C14orf179_uc001xsg.2_Missense_Mutation_p.Q27E|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Missense_Mutation_p.Q27E	p.Q27E	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	2	113	+			27					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.79C>G	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434752	0.25813	.	.	ENSG00000119650	ENST00000314067;ENST00000238628;ENST00000556742	T;T	0.41065	1.02;1.01	5.32	5.32	0.75619	.	0.586463	0.17294	N	0.179504	T	0.47248	0.1435	L	0.54323	1.7	0.31532	N	0.66103	B;P;P;P	0.41673	0.247;0.525;0.683;0.759	B;B;B;P	0.44623	0.107;0.217;0.174;0.455	T	0.55224	-0.8174	10	0.45353	T	0.12	-5.5595	16.2658	0.82579	0.0:1.0:0.0:0.0	.	27;27;27;27	Q96FT9;Q96FT9-3;Q96FT9-2;G3V385	IFT43_HUMAN;.;.;.	E	27	ENSP00000324177:Q27E;ENSP00000238628:Q27E	ENSP00000238628:Q27E	Q	+	1	0	IFT43	75525005	1.000000	0.71417	0.999000	0.59377	0.346000	0.29079	4.831000	0.62752	2.646000	0.89796	0.557000	0.71058	CAA		PASS	0.507	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		6	38	6	38	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93125655	93125655	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:93125655G>A	ENST00000216487.7	+	7	2335	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	726	Interaction with RAB5B.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D726N(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CACCACCACTGACCTAGGTGT	0.552																																						uc001yap.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2176-2178)GAC>AAC		Ras and Rab interactor 3							143.0	116.0	125.0					14																	93125655		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93125655G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2176G>A	14.37:g.93125655G>A	ENSP00000216487:p.Asp726Asn					RIN3_uc010auk.2_Missense_Mutation_p.D388N|RIN3_uc001yaq.2_Missense_Mutation_p.D651N|RIN3_uc001yar.1_Missense_Mutation_p.D388N|RIN3_uc001yas.1_Missense_Mutation_p.D388N	p.D726N	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			7	2328	+		all_cancers(154;0.0701)	726			Interaction with RAB5B.|VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.2176G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400617	0.62177	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.31247	1.5	5.8	5.8	0.92144	Vacuolar sorting protein 9 (1);	0.183870	0.47093	D	0.000243	T	0.52980	0.1768	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74023	0.982;0.963;0.963;0.972	T	0.50668	-0.8801	10	0.87932	D	0	-39.0148	20.1081	0.97899	0.0:0.0:1.0:0.0	.	726;772;651;726	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	N	726;650	ENSP00000216487:D726N	ENSP00000216487:D726N	D	+	1	0	RIN3	92195408	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	9.751000	0.98889	2.764000	0.94973	0.555000	0.69702	GAC		PASS	0.552	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			17	85	17	85	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94044262	94044262	+	Silent	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:94044262T>C	ENST00000393151.2	+	18	2286	c.2286T>C	c.(2284-2286)agT>agC	p.S762S	UNC79_ENST00000555664.1_Silent_p.S762S|UNC79_ENST00000256339.4_Silent_p.S585S|UNC79_ENST00000553484.1_Silent_p.S762S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	762					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S762S(1)|p.S585S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTTCCAGAGTCCGTTTCGGA	0.453																																						uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(1753-1755)AGT>AGC		hypothetical protein LOC57578							262.0	238.0	246.0					14																	94044262		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94044262T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2286T>C	14.37:g.94044262T>C						KIAA1409_uc001ybs.1_Silent_p.S585S	p.S585S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	15	1838	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	762					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1755T>C																																																																																					PASS	0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		47	175	47	175	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94139791	94139791	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:94139791T>G	ENST00000393151.2	+	42	6848	c.6848T>G	c.(6847-6849)cTg>cGg	p.L2283R	UNC79_ENST00000555664.1_Missense_Mutation_p.L2244R|UNC79_ENST00000256339.4_Missense_Mutation_p.L2106R|UNC79_ENST00000553484.1_Missense_Mutation_p.L2305R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2283					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2305R(1)|p.L2106R(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AACCTTCTTCTGCTTGTTCAG	0.383																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(6382-6384)CTG>CGG		hypothetical protein LOC57578							141.0	135.0	137.0					14																	94139791		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94139791T>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6848T>G	14.37:g.94139791T>G	ENSP00000376858:p.Leu2283Arg					KIAA1409_uc001ybs.1_Missense_Mutation_p.L2106R	p.L2128R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	40	6466	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2283					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6383T>G		.	.	.	.	.	.	.	.	.	.	T	17.59	3.427365	0.62733	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20881	2.04;2.06;2.04;2.04	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.41488	0.1161	L	0.55481	1.735	0.54753	D	0.999986	D	0.56968	0.978	D	0.63877	0.919	T	0.18840	-1.0324	10	0.72032	D	0.01	-13.1161	16.3322	0.83039	0.0:0.0:0.0:1.0	.	2305	C9JQL1	.	R	2106;2244;2305;2283;2305	ENSP00000256339:L2106R;ENSP00000450868:L2244R;ENSP00000451360:L2305R;ENSP00000376858:L2283R	ENSP00000256339:L2106R	L	+	2	0	KIAA1409	93209544	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	5.922000	0.70036	2.251000	0.74343	0.528000	0.53228	CTG		PASS	0.383	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		15	55	15	55	---	---	---	---
SERPINA10	51156	broad.mit.edu	37	14	94752574	94752574	+	Silent	SNP	C	C	T	rs140430900		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:94752574C>T	ENST00000393096.1	-	4	1479	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P	SERPINA10_ENST00000261994.4_Silent_p.P338P|SERPINA10_ENST00000554173.1_Silent_p.P338P|SERPINA10_ENST00000554723.1_Silent_p.P378P	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	338					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P338P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCTTGAACTTCGGAAAGAAAA	0.418																																						uc001yct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1012-1014)CCG>CCA		serine (or cysteine) proteinase inhibitor, clade		C	,	0,4406		0,0,2203	137.0	126.0	130.0		1014,1014	-10.7	0.1	14	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SERPINA10	NM_001100607.1,NM_016186.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	338/445,338/445	94752574	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94752574C>T	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1014G>A	14.37:g.94752574C>T						SERPINA10_uc001ycu.3_Silent_p.P338P	p.P338P	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1480	-		all_cancers(154;0.105)	338					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.1014G>A	CCDS9923.1																																																																																				PASS	0.418	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		10	47	10	47	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95934295	95934295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:95934295G>A	ENST00000334258.5	-	2	168	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.Q52*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.Q52*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	52					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.Q52*(3)		breast(1)|endometrium(2)|lung(25)	28						GGCTCCAGCTGGCATATTTTC	0.597																																						uc001yei.3																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(1)	1						c.(154-156)CAG>TAG		nesprin-3							43.0	39.0	40.0					14																	95934295		2203	4300	6503	SO:0001587	stop_gained	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95934295G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.154C>T	14.37:g.95934295G>A	ENSP00000334308:p.Gln52*					C14orf49_uc010avi.2_Nonsense_Mutation_p.Q52*|C14orf49_uc001yej.1_Nonsense_Mutation_p.Q52*	p.Q52*	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	2	169	-		all_cancers(154;0.0937)	52			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	ENST00000334258.5	37	c.154C>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	36	5.972823	0.97162	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	.	.	.	4.43	4.43	0.53597	.	0.297616	0.18525	N	0.138649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-20.9682	12.5102	0.56002	0.0:0.3187:0.6813:0.0	.	.	.	.	X	52	.	ENSP00000334308:Q52X	Q	-	1	0	C14orf49	95004048	0.986000	0.35501	1.000000	0.80357	0.954000	0.61252	2.209000	0.42806	2.180000	0.69256	0.561000	0.74099	CAG		PASS	0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		6	18	6	18	---	---	---	---
BDKRB2	624	broad.mit.edu	37	14	96706782	96706782	+	Silent	SNP	C	C	T	rs201661317		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:96706782C>T	ENST00000306005.3	+	3	313	c.117C>T	c.(115-117)aaC>aaT	p.N39N	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000542454.2_Silent_p.N12N|BDKRB2_ENST00000539359.1_Silent_p.N12N|BDKRB2_ENST00000554311.1_Silent_p.N39N	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	39					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.N39N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CCACTCTTAACGGGACCTTTG	0.577																																						uc010avm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(115-117)AAC>AAT		bradykinin receptor B2							149.0	161.0	157.0					14																	96706782		2203	4300	6503	SO:0001819	synonymous_variant	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706782C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.117C>T	14.37:g.96706782C>T						BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.N12N|BDKRB2_uc001yfg.2_Silent_p.N39N	p.N39N	NM_000623	NP_000614	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	313	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	39			Extracellular (Potential).			Silent	SNP	ENST00000306005.3	37	c.117C>T	CCDS9942.1																																																																																				PASS	0.577	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			51	190	51	190	---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103802201	103802201	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:103802201T>C	ENST00000216554.3	+	3	680	c.4T>C	c.(4-6)Tct>Cct	p.S2P	EIF5_ENST00000558506.1_Missense_Mutation_p.S2P|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.S2P	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	2					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.S2P(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGCCAAAATGTCTGTCAATGT	0.408																																						uc001ymq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(4-6)TCT>CCT		eukaryotic translation initiation factor 5							126.0	119.0	122.0					14																	103802201		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103802201T>C	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.4T>C	14.37:g.103802201T>C	ENSP00000216554:p.Ser2Pro					EIF5_uc001ymr.2_Missense_Mutation_p.S2P|EIF5_uc001yms.2_Missense_Mutation_p.S2P|EIF5_uc001ymt.2_Missense_Mutation_p.S2P|EIF5_uc001ymu.2_Missense_Mutation_p.S2P|SNORA28_uc001ymv.1_5'Flank	p.S2P	NM_001969	NP_001960	P55010	IF5_HUMAN	Epithelial(46;0.182)		3	526	+		Melanoma(154;0.155)	2					Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.4T>C	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.459559	0.84317	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.83755	-1.76;-1.76	5.79	3.43	0.39272	.	0.050994	0.85682	N	0.000000	D	0.89336	0.6686	M	0.77103	2.36	0.58432	D	0.999992	D	0.63880	0.993	D	0.71870	0.975	D	0.88339	0.2973	10	0.72032	D	0.01	.	10.0826	0.42399	0.0:0.1357:0.0:0.8643	.	2	P55010	IF5_HUMAN	P	2	ENSP00000216554:S2P;ENSP00000376477:S2P	ENSP00000216554:S2P	S	+	1	0	EIF5	102871954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.988000	0.70579	0.468000	0.27243	0.529000	0.55759	TCT		PASS	0.408	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		27	69	27	69	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410942	105410942	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr14:105410942C>G	ENST00000333244.5	-	7	10965	c.10846G>C	c.(10846-10848)Gat>Cat	p.D3616H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3616						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3616H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCCCAGCATCCAGCTTGGCC	0.592																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10846-10848)GAT>CAT		AHNAK nucleoprotein 2							126.0	139.0	135.0					14																	105410942		2044	4184	6228	SO:0001583	missense	113146					nucleus		g.chr14:105410942C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10846G>C	14.37:g.105410942C>G	ENSP00000353114:p.Asp3616His					AHNAK2_uc001ypx.2_Missense_Mutation_p.D3516H	p.D3616H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10966	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3616					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10846G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.73	2.919265	0.52546	.	.	ENSG00000185567	ENST00000333244	T	0.02067	4.47	3.99	3.99	0.46301	.	.	.	.	.	T	0.11537	0.0281	M	0.85041	2.73	0.24283	N	0.99519	D	0.58268	0.982	P	0.61940	0.896	T	0.05068	-1.0908	9	0.39692	T	0.17	.	11.5858	0.50918	0.0:1.0:0.0:0.0	.	3616	Q8IVF2	AHNK2_HUMAN	H	3616	ENSP00000353114:D3616H	ENSP00000353114:D3616H	D	-	1	0	AHNAK2	104481987	0.367000	0.25023	0.027000	0.17364	0.011000	0.07611	1.340000	0.33896	1.767000	0.52121	0.313000	0.20887	GAT		PASS	0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		32	137	32	137	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40628970	40628970	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:40628970C>G	ENST00000559313.1	-	8	934	c.919G>C	c.(919-921)Gat>Cat	p.D307H	C15orf52_ENST00000397536.2_Missense_Mutation_p.D97H|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	307							poly(A) RNA binding (GO:0044822)	p.D307H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CCTTTTCCATCAGGGAGCAAT	0.577																																						uc001zlh.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(919-921)GAT>CAT		hypothetical protein LOC388115							65.0	71.0	69.0					15																	40628970		2203	4300	6503	SO:0001583	missense	388115							g.chr15:40628970C>G	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.919G>C	15.37:g.40628970C>G	ENSP00000453969:p.Asp307His					C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.1_Missense_Mutation_p.D97H	p.D307H	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	8	935	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	307					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.919G>C	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131065	0.77549	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	T	0.48201	0.82	5.52	4.6	0.57074	.	0.549934	0.18701	N	0.133571	T	0.62563	0.2438	M	0.64997	1.995	0.35826	D	0.824953	D;D	0.89917	1.0;0.992	D;P	0.69479	0.964;0.875	T	0.71130	-0.4682	10	0.66056	D	0.02	-3.4881	10.1912	0.43028	0.0:0.9084:0.0:0.0916	.	97;307	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	H	307;97	ENSP00000380670:D97H	ENSP00000372135:D307H	D	-	1	0	C15orf52	38416262	0.999000	0.42202	0.941000	0.38009	0.980000	0.70556	1.563000	0.36364	1.332000	0.45431	0.462000	0.41574	GAT		PASS	0.577	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		23	75	23	75	---	---	---	---
FAM227B	196951	broad.mit.edu	37	15	49882182	49882182	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:49882182T>A	ENST00000299338.6	-	4	431	c.128A>T	c.(127-129)cAt>cTt	p.H43L	FAM227B_ENST00000561064.1_Missense_Mutation_p.H43L|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000558594.1_Missense_Mutation_p.H43L|FAM227B_ENST00000560246.1_Missense_Mutation_p.H43L	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	43								p.H43L(1)									ATCTCTAAAATGGATTTCCCT	0.303																																						uc001zxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(127-129)CAT>CTT		hypothetical protein LOC196951							41.0	46.0	44.0					15																	49882182		2194	4284	6478	SO:0001583	missense	196951							g.chr15:49882182T>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.128A>T	15.37:g.49882182T>A	ENSP00000299338:p.His43Leu					C15orf33_uc001zxm.2_Missense_Mutation_p.H43L	p.H43L	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	4	422	-		all_lung(180;0.00187)	43					Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.128A>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852221	0.32699	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.51	-6.15	0.02105	.	2.455950	0.01552	N	0.019715	T	0.29817	0.0745	L	0.56769	1.78	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.21917	0.037;0.037	T	0.17471	-1.0368	9	0.12430	T	0.62	-0.7149	0.3871	0.00404	0.2569:0.2564:0.2625:0.2242	.	43;43	Q96M60-2;Q96M60	.;CO033_HUMAN	L	43	.	ENSP00000299338:H43L	H	-	2	0	C15orf33	47669474	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.235000	0.02928	-1.416000	0.02019	-0.326000	0.08463	CAT		PASS	0.303	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		8	49	8	49	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54007544	54007544	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:54007544C>A	ENST00000396328.1	-	5	599	c.360G>T	c.(358-360)cgG>cgT	p.R120R	WDR72_ENST00000559418.1_Silent_p.R120R|WDR72_ENST00000557913.1_Silent_p.R120R|WDR72_ENST00000360509.5_Silent_p.R120R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	120								p.R120R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTCCTGTCATCCGGAATGAGC	0.358																																						uc002acj.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(358-360)CGG>CGT		WD repeat domain 72							86.0	83.0	84.0					15																	54007544		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54007544C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.360G>T	15.37:g.54007544C>A						WDR72_uc010bfi.1_Silent_p.R120R	p.R120R	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	5	402	-			120					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.360G>T	CCDS10151.1																																																																																				PASS	0.358	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		7	33	7	33	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54707198	54707198	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:54707198C>T	ENST00000260323.11	+	18	4866	c.4866C>T	c.(4864-4866)aaC>aaT	p.N1622N	UNC13C_ENST00000545554.1_Silent_p.N1622N|UNC13C_ENST00000537900.1_Silent_p.N1620N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1622					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.N1622N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAGCTGAACATGGGAAAAA	0.303																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4864-4866)AAC>AAT		unc-13 homolog C							103.0	102.0	102.0					15																	54707198		1816	4067	5883	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54707198C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4866C>T	15.37:g.54707198C>T						UNC13C_uc002acl.2_Silent_p.N452N	p.N1622N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	17	4866	+			1622					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.4866C>T	CCDS45264.1																																																																																				PASS	0.303	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	21	5	21	---	---	---	---
SCAMP2	10066	broad.mit.edu	37	15	75141031	75141031	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:75141031G>C	ENST00000268099.9	-	7	753	c.644C>G	c.(643-645)tCt>tGt	p.S215C		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	215	Interaction with SLC9A7.				post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)		p.S215C(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GAAGCTGAAAGAGTTGTCGGA	0.488																																						uc002azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(643-645)TCT>TGT		secretory carrier membrane protein 2							56.0	51.0	53.0					15																	75141031		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75141031G>C	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.644C>G	15.37:g.75141031G>C	ENSP00000268099:p.Ser215Cys					SCAMP2_uc002aza.1_Missense_Mutation_p.S65C|SCAMP2_uc010bkg.1_Intron	p.S215C	NM_005697	NP_005688	O15127	SCAM2_HUMAN			7	718	-			215			Cytoplasmic (Potential).|Interaction with SLC9A7.		B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.644C>G	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826909	0.90955	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.21361	2.01	5.71	5.71	0.89125	.	0.179608	0.51477	D	0.000089	T	0.58666	0.2138	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68239	-0.5461	10	0.87932	D	0	.	18.4457	0.90682	0.0:0.0:1.0:0.0	.	215;184	O15127;B3KU14	SCAM2_HUMAN;.	C	215;184	ENSP00000268099:S215C	ENSP00000268099:S215C	S	-	2	0	SCAMP2	72928084	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.771000	0.98977	2.709000	0.92574	0.655000	0.94253	TCT		PASS	0.488	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		5	17	5	17	---	---	---	---
FAH	2184	broad.mit.edu	37	15	80469898	80469898	+	Silent	SNP	G	G	T	rs375166793		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:80469898G>T	ENST00000407106.1	+	12	1088	c.933G>T	c.(931-933)gcG>gcT	p.A311A	FAH_ENST00000539156.1_Silent_p.A241A|FAH_ENST00000561421.1_Silent_p.A311A|FAH_ENST00000261755.5_Silent_p.A311A			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	311					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.A311A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGCCAGGCGGCTACCATAT	0.403									Tyrosinemia, type 1																													uc002bfj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)GCG>GCT		fumarylacetoacetase							95.0	92.0	93.0					15																	80469898		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80469898G>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.933G>T	15.37:g.80469898G>T						FAH_uc002bfk.1_Silent_p.A311A|FAH_uc002bfm.1_Silent_p.A311A|FAH_uc002bfn.1_Silent_p.A241A|FAH_uc010bln.1_RNA|FAH_uc010blo.1_RNA	p.A311A	NM_000137	NP_000128	P16930	FAAA_HUMAN			12	1015	+			311					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.933G>T	CCDS10314.1																																																																																				PASS	0.403	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			17	57	17	57	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93482893	93482893	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:93482893G>A	ENST00000394196.4	+	7	1705	c.637G>A	c.(637-639)Gat>Aat	p.D213N	CHD2_ENST00000557381.1_Missense_Mutation_p.D213N|CHD2_ENST00000420239.2_Missense_Mutation_p.D213N|CHD2_ENST00000536619.1_Missense_Mutation_p.D226N	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	213					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.D213N(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGAGGATGATGATGATGACGA	0.443																																						uc002bsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(637-639)GAT>AAT		chromodomain helicase DNA binding protein 2							128.0	120.0	122.0					15																	93482893		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93482893G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.637G>A	15.37:g.93482893G>A	ENSP00000377747:p.Asp213Asn					CHD2_uc002bsm.1_Missense_Mutation_p.D213N|CHD2_uc002bsn.2_Missense_Mutation_p.D213N|CHD2_uc002bso.1_Missense_Mutation_p.D213N|CHD2_uc010urb.1_Missense_Mutation_p.D226N	p.D213N	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		7	1212	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		213					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.637G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324425	0.60634	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.90261	-2.64;-2.62;0.77;0.75	5.11	5.11	0.69529	.	0.476005	0.15038	U	0.284034	D	0.88746	0.6520	L	0.46157	1.445	0.58432	D	0.999998	B;B;B;B	0.29301	0.028;0.048;0.241;0.083	B;B;B;B	0.28784	0.006;0.043;0.094;0.077	D	0.86070	0.1537	10	0.49607	T	0.09	-18.3339	18.724	0.91705	0.0:0.0:1.0:0.0	.	226;213;213;213	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	N	213;213;213;226	ENSP00000377747:D213N;ENSP00000451366:D213N;ENSP00000406581:D213N;ENSP00000443618:D226N	ENSP00000377747:D213N	D	+	1	0	CHD2	91283897	1.000000	0.71417	0.998000	0.56505	0.595000	0.36748	8.738000	0.91569	2.664000	0.90586	0.563000	0.77884	GAT		PASS	0.443	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		23	63	23	63	---	---	---	---
SPATA8	145946	broad.mit.edu	37	15	97327381	97327381	+	Splice_Site	SNP	A	A	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr15:97327381A>C	ENST00000328504.3	+	2	356		c.e2-1		SPATA8-AS1_ENST00000560888.1_RNA|SPATA8_ENST00000558553.1_Splice_Site|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8									p.?(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTTCTGCAGAACCTCGTC	0.577																																						uc002bue.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e2-2		spermatogenesis associated 8							71.0	68.0	69.0					15																	97327381		2197	4298	6495	SO:0001630	splice_region_variant	145946							g.chr15:97327381A>C	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.90-1A>C	15.37:g.97327381A>C						uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.R30_splice	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		2	300	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)							Q2KJ07	Splice_Site	SNP	ENST00000328504.3	37	c.90_splice	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	A	6.374	0.437049	0.12104	.	.	ENSG00000185594	ENST00000328504	.	.	.	3.69	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.27169	N	0.960965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.158	0.25649	0.7708:0.2292:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPATA8	95128385	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	0.350000	0.20079	0.761000	0.33130	0.533000	0.62120	.		PASS	0.577	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499	Intron	10	28	10	28	---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16278887	16278887	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:16278887G>A	ENST00000205557.7	-	15	1901	c.1872C>T	c.(1870-1872)gcC>gcT	p.A624A	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	624					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A624A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AATCCTTCCCGGCAGCTGCAG	0.652																																						uc002den.3																			1	Substitution - coding silent(1)	p.A624V(1)	lung(1)	skin(2)|ovary(1)	3						c.(1870-1872)GCC>GCT		ATP-binding cassette, sub-family C, member 6							132.0	101.0	111.0					16																	16278887		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16278887G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1872C>T	16.37:g.16278887G>A						ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.A636A	p.A624A	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	15	1909	-			624			Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.1872C>T	CCDS10568.1																																																																																				PASS	0.652	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			6	25	6	25	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20554480	20554480	+	Silent	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:20554480T>G	ENST00000329697.6	-	11	1554	c.1386A>C	c.(1384-1386)gcA>gcC	p.A462A	ACSM2B_ENST00000565322.1_Silent_p.A383A|ACSM2B_ENST00000565232.1_Silent_p.A462A|ACSM2B_ENST00000567001.1_Silent_p.A462A|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	462					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.A462A(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGATATCATCTGCCCGTCCCA	0.507																																						uc002dhj.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1384-1386)GCA>GCC		acyl-CoA synthetase medium-chain family member							354.0	372.0	366.0					16																	20554480		2200	4299	6499	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554480T>G	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.1386A>C	16.37:g.20554480T>G						ACSM2B_uc002dhk.3_Silent_p.A462A|ACSM2B_uc010bwf.1_Silent_p.A462A	p.A462A	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1596	-			462					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.1386A>C	CCDS10586.1																																																																																				PASS	0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		40	252	40	252	---	---	---	---
CRYM-AS1	400508	broad.mit.edu	37	16	21328221	21328221	+	lincRNA	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:21328221C>T	ENST00000444326.1	+	0	337							A6NIL9	CRAS1_HUMAN	CRYM antisense RNA 1							integral component of membrane (GO:0016021)		p.L33L(1)									AAATGGTCCTCACATTTCTGT	0.403																																						uc010bwr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1								Homo sapiens cDNA FLJ41766 fis, clone IMR322006222.							176.0	162.0	166.0					16																	21328221		1858	4100	5958			400508							g.chr16:21328221C>T			16p12.2	2012-10-12	2012-08-15	2011-08-11	ENSG00000189149	ENSG00000189149		"""Long non-coding RNAs"""	34405	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 169"", ""CRYM antisense RNA 1 (non-protein coding)"""	NCRNA00169			Standard	NR_026675		Approved	FLJ41766	uc010bwr.1	A6NIL9	OTTHUMG00000156701		16.37:g.21328221C>T								NR_026675						3		+								B3KVZ2	RNA	SNP	ENST00000444326.1	37	c.613C>T																																																																																					PASS	0.403	CRYM-AS1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000345335.1	NR_026675		32	103	32	103	---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23641656	23641656	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:23641656G>C	ENST00000261584.4	-	5	1971	c.1819C>G	c.(1819-1821)Ctc>Gtc	p.L607V		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	607					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L607V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTGATACTGAGAAAAGACAGT	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(1819-1821)CTC>GTC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							75.0	69.0	71.0					16																	23641656		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641656G>C		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1819C>G	16.37:g.23641656G>C	ENSP00000261584:p.Leu607Val						p.L607V	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2019	-			607					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1819C>G	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544655	0.45280	.	.	ENSG00000083093	ENST00000261584	T	0.18657	2.2	6.03	1.41	0.22369	.	0.522138	0.17599	N	0.168474	T	0.23410	0.0566	M	0.65975	2.015	0.09310	N	1	P	0.45531	0.86	P	0.44561	0.453	T	0.09707	-1.0662	10	0.62326	D	0.03	-0.2778	6.1388	0.20249	0.2801:0.0:0.5865:0.1335	.	607	Q86YC2	PALB2_HUMAN	V	607	ENSP00000261584:L607V	ENSP00000261584:L607V	L	-	1	0	PALB2	23549157	0.769000	0.28531	0.001000	0.08648	0.040000	0.13550	1.644000	0.37228	0.425000	0.26087	0.655000	0.94253	CTC		PASS	0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		9	68	9	68	---	---	---	---
KAT8	84148	broad.mit.edu	37	16	31142524	31142524	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:31142524G>C	ENST00000543774.2	+	12	1656	c.1321G>C	c.(1321-1323)Gtc>Ctc	p.V441L	KAT8_ENST00000219797.4_Missense_Mutation_p.V441L|KAT8_ENST00000448516.2_3'UTR|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	441	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.V441L(1)									AGTGGACTCCGTCTGCCTCAA	0.667																																						uc002eay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1321-1323)GTC>CTC		MYST histone acetyltransferase 1 isoform 1							39.0	38.0	38.0					16																	31142524		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31142524G>C	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1321G>C	16.37:g.31142524G>C	ENSP00000456933:p.Val441Leu					MYST1_uc002eax.2_3'UTR|MYST1_uc002eaz.2_Missense_Mutation_p.V283L|MYST1_uc002eba.2_3'UTR|MYST1_uc002ebb.2_RNA	p.V441L	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			11	1339	+			441					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.1321G>C	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463531	0.26248	.	.	ENSG00000103510	ENST00000219797	.	.	.	5.73	3.76	0.43208	.	1.652610	0.03046	N	0.154020	T	0.30792	0.0776	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.49607	T	0.09	.	6.2137	0.20644	0.156:0.2931:0.551:0.0	.	441	Q9H7Z6	KAT8_HUMAN	L	441	.	ENSP00000219797:V441L	V	+	1	0	KAT8	31050025	0.024000	0.19004	0.996000	0.52242	0.932000	0.56968	0.147000	0.16202	0.762000	0.33152	0.484000	0.47621	GTC		PASS	0.667	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		5	14	5	14	---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31473871	31473871	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:31473871C>T	ENST00000563544.1	+	4	1549	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	ARMC5_ENST00000457010.2_Missense_Mutation_p.R335W|ARMC5_ENST00000538189.1_Missense_Mutation_p.R367W|ARMC5_ENST00000408912.3_Missense_Mutation_p.R430W|ARMC5_ENST00000412665.2_Intron|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Missense_Mutation_p.R335W			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	335								p.R335W(1)|p.R430W(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						CCGGCAGCGCCGGGATCCTAA	0.652																																						uc002ecc.2																			2	Substitution - Missense(2)	p.R335C(1)	lung(2)	pancreas(1)	1						c.(1003-1005)CGG>TGG		armadillo repeat containing 5 isoform a							36.0	41.0	39.0					16																	31473871		2024	4180	6204	SO:0001583	missense	79798						binding	g.chr16:31473871C>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.1003C>T	16.37:g.31473871C>T	ENSP00000456877:p.Arg335Trp					ARMC5_uc010vfn.1_Missense_Mutation_p.R430W|ARMC5_uc010vfo.1_Missense_Mutation_p.R367W|ARMC5_uc002eca.3_Missense_Mutation_p.R335W|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R335W	p.R335W	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			3	1532	+			335			ARM 5.		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1003C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	12.21	1.870887	0.33069	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.8	2.54	0.30619	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000055	T	0.39009	0.1062	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.994;0.994;0.984	T	0.17623	-1.0363	10	0.66056	D	0.02	-5.4148	10.5961	0.45338	0.3816:0.6184:0.0:0.0	.	367;430;335;335	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	W	430;367;335;335	ENSP00000386125:R430W;ENSP00000443995:R367W;ENSP00000268314:R335W;ENSP00000399561:R335W	ENSP00000268314:R335W	R	+	1	2	ARMC5	31381372	0.842000	0.29525	0.955000	0.39395	0.046000	0.14306	0.383000	0.20651	0.973000	0.38340	0.457000	0.33378	CGG		PASS	0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		11	26	11	26	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50741806	50741806	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:50741806G>C	ENST00000300589.2	+	3	686	c.581G>C	c.(580-582)gGa>gCa	p.G194A	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	194	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.G194A(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AAAGCGAATGGATTGGCTGCC	0.483																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(580-582)GGA>GCA		nucleotide-binding oligomerization domain							184.0	147.0	159.0					16																	50741806		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50741806G>C	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.581G>C	16.37:g.50741806G>C	ENSP00000300589:p.Gly194Ala					NOD2_uc010cbk.1_Missense_Mutation_p.G167A|NOD2_uc002egl.1_Intron|NOD2_uc010cbl.1_5'Flank|NOD2_uc010cbm.1_5'Flank|NOD2_uc010cbn.1_5'Flank|NOD2_uc010cbo.1_5'Flank	p.G194A	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			3	686	+		all_cancers(37;0.0156)	194			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.581G>C	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830142	0.16749	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.19250	2.16	4.71	4.71	0.59529	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.56097	D	0.000035	T	0.36991	0.0987	L	0.45581	1.43	0.32103	N	0.590377	D	0.89917	1.0	D	0.97110	1.0	T	0.30504	-0.9976	10	0.28530	T	0.3	.	13.508	0.61495	0.0:0.0:1.0:0.0	.	194	Q9HC29	NOD2_HUMAN	A	167;194	ENSP00000300589:G194A	ENSP00000300589:G194A	G	+	2	0	NOD2	49299307	0.999000	0.42202	0.843000	0.33291	0.324000	0.28378	2.221000	0.42917	2.344000	0.79699	0.650000	0.86243	GGA		PASS	0.483	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		25	70	25	70	---	---	---	---
NUP93	9688	broad.mit.edu	37	16	56792532	56792532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:56792532G>T	ENST00000308159.5	+	3	383	c.262G>T	c.(262-264)Gag>Tag	p.E88*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.E88*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	88					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)|nuclear pore complex assembly (GO:0051292)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E88*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CACCACCTTTGAGCCTCTTGA	0.537																																					Colon(33;610 796 1305 1705 38917)	uc002eka.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(262-264)GAG>TAG		nucleoporin 93kDa							93.0	82.0	86.0					16																	56792532		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56792532G>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.262G>T	16.37:g.56792532G>T	ENSP00000310668:p.Glu88*						p.E88*	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			3	383	+			88					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.262G>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	38	6.706694	0.97776	.	.	ENSG00000102900	ENST00000308159	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-21.4654	18.2741	0.90078	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000310668:E88X	E	+	1	0	NUP93	55350033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.452000	0.97615	2.401000	0.81631	0.555000	0.69702	GAG		PASS	0.537	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		12	42	12	42	---	---	---	---
CES2	8824	broad.mit.edu	37	16	66977219	66977219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:66977219G>T	ENST00000317091.4	+	11	2614	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Nonsense_Mutation_p.E528*	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	480					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.E544*(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CACTGAGGAAGAGGAGCAGCT	0.542																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1630-1632)GAG>TAG		carboxylesterase 2 isoform 1							110.0	82.0	92.0					16																	66977219		2200	4300	6500	SO:0001587	stop_gained	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66977219G>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1630G>T	16.37:g.66977219G>T	ENSP00000317842:p.Glu544*					CES2_uc002eqq.2_Nonsense_Mutation_p.E528*|CES2_uc002eqs.2_Nonsense_Mutation_p.E387*	p.E544*	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	11	2630	+		Ovarian(137;0.0563)	480					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Nonsense_Mutation	SNP	ENST00000317091.4	37	c.1630G>T	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563499	0.27915	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	.	.	.	4.91	3.96	0.45880	.	0.000000	0.49305	D	0.000144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0154	0.47685	0.0904:0.0:0.9096:0.0	.	.	.	.	X	528;544	.	ENSP00000317842:E544X	E	+	1	0	CES2	65534720	1.000000	0.71417	0.770000	0.31555	0.134000	0.20937	8.147000	0.89628	1.310000	0.45006	0.650000	0.86243	GAG		PASS	0.542	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		14	32	14	32	---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67683724	67683724	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:67683724C>T	ENST00000334583.6	+	21	2263	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	RLTPR_ENST00000545661.1_Silent_p.D609D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	645	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.D685D(1)|p.D645D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGTCTGGGACCGGAACCACA	0.662																																						uc002etn.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(1933-1935)GAC>GAT		RGD motif, leucine rich repeats, tropomodulin							42.0	50.0	47.0					16																	67683724		2090	4208	6298	SO:0001819	synonymous_variant	146206							g.chr16:67683724C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1935C>T	16.37:g.67683724C>T						RLTPR_uc010cel.1_Silent_p.D638D|RLTPR_uc010vjr.1_Silent_p.D609D	p.D645D	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	21	2055	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	645			Tropomodulin-like.|LRR 15.		B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1935C>T	CCDS45513.1																																																																																				PASS	0.662	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		9	39	9	39	---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68390996	68390996	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:68390996T>A	ENST00000339507.5	+	19	2778	c.1948T>A	c.(1948-1950)Tac>Aac	p.Y650N	PRMT7_ENST00000348497.4_Missense_Mutation_p.Y502N|PRMT7_ENST00000441236.1_Missense_Mutation_p.Y600N|PRMT7_ENST00000449359.3_Missense_Mutation_p.Y600N			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	650	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.Y650N(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCAGGCCGTCTACTTCTTCAG	0.612																																						uc002evy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1948-1950)TAC>AAC		protein arginine methyltransferase 7							61.0	58.0	59.0					16																	68390996		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68390996T>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1948T>A	16.37:g.68390996T>A	ENSP00000343103:p.Tyr650Asn					PRMT7_uc010vlg.1_Missense_Mutation_p.Y600N|PRMT7_uc002evz.1_Missense_Mutation_p.Y422N	p.Y650N	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	19	2224	+		Ovarian(137;0.192)	650					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1948T>A	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270232	0.80469	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	6.08	6.08	0.98989	.	0.052987	0.85682	D	0.000000	T	0.52403	0.1732	M	0.83012	2.62	0.29199	N	0.875349	P;D;P	0.89917	0.942;1.0;0.843	P;D;P	0.67548	0.831;0.952;0.602	T	0.58918	-0.7551	10	0.66056	D	0.02	-33.0554	13.0356	0.58870	0.0:0.0:0.0:1.0	.	600;502;650	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	N	600;600;502;650	ENSP00000414716:Y600N;ENSP00000409324:Y600N;ENSP00000345775:Y502N;ENSP00000343103:Y650N	ENSP00000343103:Y650N	Y	+	1	0	PRMT7	66948497	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	5.964000	0.70379	2.333000	0.79357	0.533000	0.62120	TAC		PASS	0.612	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		7	45	7	45	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74497378	74497378	+	Splice_Site	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr16:74497378C>G	ENST00000422840.2	-	20	2667		c.e20-1		GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site|Y_RNA_ENST00000384794.1_RNA	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.?(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GACAGAACCTCTGCAAAGAAA	0.403																																						uc002fcy.3																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e20-1		golgi apparatus protein 1 isoform 3							186.0	159.0	168.0					16																	74497378		2198	4300	6498	SO:0001630	splice_region_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74497378C>G		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2668-1G>C	16.37:g.74497378C>G						GLG1_uc002fcx.2_Splice_Site_p.R890_splice|GLG1_uc002fcw.3_Splice_Site_p.R879_splice|GLG1_uc002fcz.3_Splice_Site_p.R307_splice	p.R890_splice	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			20	2718	-								B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	ENST00000422840.2	37	c.2668_splice	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209151	0.79240	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1703	0.98158	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLG1	73054879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.553000	0.82203	2.868000	0.98415	0.557000	0.71058	.		PASS	0.403	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	Intron	24	77	24	77	---	---	---	---
ZFP3	124961	broad.mit.edu	37	17	4996231	4996231	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:4996231G>C	ENST00000318833.3	+	2	1768	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E478Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAGCCTTATGAGTGCCAAGA	0.413																																						uc002gaq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1432-1434)GAG>CAG		zinc finger protein-3							73.0	74.0	74.0					17																	4996231		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996231G>C	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1432G>C	17.37:g.4996231G>C	ENSP00000320347:p.Glu478Gln						p.E478Q	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN			2	1557	+			478			C2H2-type 13.		A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1432G>C	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220873	0.22457	.	.	ENSG00000180787	ENST00000318833	T	0.20200	2.09	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002284	T	0.16981	0.0408	N	0.16266	0.395	0.09310	N	1	P	0.47191	0.891	P	0.45753	0.492	T	0.09400	-1.0676	10	0.40728	T	0.16	-12.1564	14.4268	0.67220	0.0:0.0:1.0:0.0	.	478	Q96NJ6	ZFP3_HUMAN	Q	478	ENSP00000320347:E478Q	ENSP00000320347:E478Q	E	+	1	0	ZFP3	4936955	0.000000	0.05858	0.957000	0.39632	0.997000	0.91878	-0.889000	0.04144	2.532000	0.85374	0.650000	0.86243	GAG		PASS	0.413	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		15	32	15	32	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	5983988	5983988	+	Missense_Mutation	SNP	C	C	A	rs370044604		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:5983988C>A	ENST00000574946.1	+	2	400	c.10C>A	c.(10-12)Cct>Act	p.P4T	WSCD1_ENST00000574232.1_Missense_Mutation_p.P4T|WSCD1_ENST00000539421.1_Missense_Mutation_p.P4T|WSCD1_ENST00000317744.5_Missense_Mutation_p.P4T|WSCD1_ENST00000573634.1_Intron			Q658N2	WSCD1_HUMAN	WSC domain containing 1	4						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.P4T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CATGGCCAAACCTTTCTTCCG	0.657																																						uc010cli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)CCT>ACT		WSC domain containing 1							39.0	38.0	38.0					17																	5983988		2109	4063	6172	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5983988C>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.10C>A	17.37:g.5983988C>A	ENSP00000460825:p.Pro4Thr					WSCD1_uc002gcn.2_Missense_Mutation_p.P4T|WSCD1_uc002gco.2_Missense_Mutation_p.P4T|WSCD1_uc010clj.2_5'UTR	p.P4T	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			2	389	+			4					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.10C>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403859	0.83230	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85258	-1.96;-1.96	5.07	5.07	0.68467	.	0.068270	0.64402	D	0.000017	D	0.87966	0.6311	L	0.39898	1.24	0.45015	D	0.99803	D	0.89917	1.0	D	0.83275	0.996	D	0.84137	0.0415	10	0.14252	T	0.57	-7.3261	15.9608	0.79928	0.0:1.0:0.0:0.0	.	4	Q658N2	WSCD1_HUMAN	T	4	ENSP00000323087:P4T;ENSP00000446032:P4T	ENSP00000323087:P4T	P	+	1	0	WSCD1	5924712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.704000	0.61831	2.350000	0.79820	0.557000	0.71058	CCT		PASS	0.657	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		9	26	9	26	---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6531662	6531662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:6531662C>A	ENST00000361413.3	-	3	851	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	165						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E165*(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTGGAGATTTCTACTTTGGAT	0.488																																						uc002gde.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(493-495)GAA>TAA		hypothetical protein LOC9851							93.0	102.0	99.0					17																	6531662		2106	4221	6327	SO:0001587	stop_gained	9851					centrosome		g.chr17:6531662C>A		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.493G>T	17.37:g.6531662C>A	ENSP00000355250:p.Glu165*					KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR	p.E165*	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	3	852	-			165					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Nonsense_Mutation	SNP	ENST00000361413.3	37	c.493G>T	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	39	7.334459	0.98217	.	.	ENSG00000198920	ENST00000361413	.	.	.	5.46	4.48	0.54585	.	0.540708	0.20018	N	0.100970	.	.	.	.	.	.	0.38515	D	0.948578	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-6.7645	11.5089	0.50483	0.0:0.9111:0.0:0.0889	.	.	.	.	X	165	.	ENSP00000355250:E165X	E	-	1	0	KIAA0753	6472386	0.002000	0.14202	0.005000	0.12908	0.940000	0.58332	1.258000	0.32944	1.431000	0.47355	0.655000	0.94253	GAA		PASS	0.488	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		11	31	11	31	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:7578265A>C	ENST00000269305.4	-	6	773	c.584T>G	c.(583-585)aTc>aGc	p.I195S	TP53_ENST00000359597.4_Missense_Mutation_p.I195S|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195S|TP53_ENST00000413465.2_Missense_Mutation_p.I195S|TP53_ENST00000420246.2_Missense_Mutation_p.I195S|TP53_ENST00000455263.2_Missense_Mutation_p.I195S	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(583-585)ATC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							100.0	89.0	93.0					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578265A>C	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.584T>G	17.37:g.7578265A>C	ENSP00000269305:p.Ile195Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I195S|TP53_uc002gih.2_Missense_Mutation_p.I195S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63S|TP53_uc010cng.1_Missense_Mutation_p.I63S|TP53_uc002gii.1_Missense_Mutation_p.I63S|TP53_uc010cnh.1_Missense_Mutation_p.I195S|TP53_uc010cni.1_Missense_Mutation_p.I195S|TP53_uc002gij.2_Missense_Mutation_p.I195S|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102S|TP53_uc002gio.2_Missense_Mutation_p.I63S|TP53_uc010vug.1_Missense_Mutation_p.I156S	p.I195S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439821	0.43326	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99743	0.9898	M	0.85099	2.735	0.54753	D	0.999986	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.979;0.991;0.996;0.997;0.996	D	0.98579	1.0649	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195S;ENSP00000352610:I195S;ENSP00000269305:I195S;ENSP00000398846:I195S;ENSP00000391127:I195S;ENSP00000391478:I195S;ENSP00000425104:I63S;ENSP00000423862:I102S	ENSP00000269305:I195S	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	25	8	25	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10366280	10366280	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:10366280G>A	ENST00000255381.2	-	11	1020	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	304	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.L304F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGATCAGAAGCATTTCTGAA	0.433																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(910-912)CTT>TTT		myosin, heavy polypeptide 4, skeletal muscle							118.0	113.0	115.0					17																	10366280		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366280G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.910C>T	17.37:g.10366280G>A	ENSP00000255381:p.Leu304Phe					uc002gml.1_Intron	p.L304F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			11	1021	-			304			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.910C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494129	0.64186	.	.	ENSG00000141048	ENST00000255381	D	0.92149	-2.98	5.37	4.41	0.53225	Myosin head, motor domain (2);	0.000000	0.33327	U	0.005028	D	0.95472	0.8529	M	0.83012	2.62	0.47698	D	0.999494	P	0.50156	0.932	D	0.63283	0.913	D	0.95724	0.8769	10	0.87932	D	0	.	12.334	0.55056	0.1416:0.0:0.8584:0.0	.	304	Q9Y623	MYH4_HUMAN	F	304	ENSP00000255381:L304F	ENSP00000255381:L304F	L	-	1	0	MYH4	10307005	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.158000	0.31737	1.399000	0.46721	0.650000	0.86243	CTT		PASS	0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		11	18	11	18	---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26906445	26906445	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:26906445C>T	ENST00000321765.5	-	18	3275	c.2943G>A	c.(2941-2943)caG>caA	p.Q981Q	ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	981					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.Q981Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AACAAAGACTCTGAAGCTCAG	0.493																																						uc002hbq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2941-2943)CAG>CAA		sperm associated antigen 5							149.0	148.0	148.0					17																	26906445		2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26906445C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2943G>A	17.37:g.26906445C>T						ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	p.Q981Q	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			18	3035	-	Lung NSC(42;0.00431)		981			Potential.		O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.2943G>A	CCDS32594.1																																																																																				PASS	0.493	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		38	89	38	89	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27449231	27449231	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:27449231T>G	ENST00000527372.1	-	3	1220	c.1040A>C	c.(1039-1041)aAt>aCt	p.N347T	MYO18A_ENST00000354329.4_Missense_Mutation_p.N347T|MYO18A_ENST00000531253.1_Missense_Mutation_p.N347T|MYO18A_ENST00000533112.1_Missense_Mutation_p.N347T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	347	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.N347T(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCGTCTCATTCCAGGCCTC	0.552																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1039-1041)AAT>ACT		myosin 18A isoform a							74.0	83.0	80.0					17																	27449231		2000	4185	6185	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27449231T>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1040A>C	17.37:g.27449231T>G	ENSP00000437073:p.Asn347Thr					MYO18A_uc010wbc.1_5'Flank|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.N347T|MYO18A_uc002hdu.1_Missense_Mutation_p.N347T|MYO18A_uc010wbd.1_Missense_Mutation_p.N16T	p.N347T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		3	1198	-			347					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1040A>C	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.31|14.31	2.497986|2.497986	0.44455|0.44455	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000528564|ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	.|D;D;D;D	.|0.87491	.|-2.15;-2.26;-2.15;-2.15	5.64|5.64	4.55|4.55	0.56014|0.56014	.|.	.|0.445830	.|0.26297	.|N	.|0.025182	T|T	0.72228|0.72228	0.3434|0.3434	N|N	0.08118|0.08118	0|0	0.24542|0.24542	N|N	0.994064|0.994064	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.57653|0.57653	-0.7774|-0.7774	5|10	.|0.22706	.|T	.|0.39	.|.	9.5554|9.5554	0.39334|0.39334	0.0:0.0894:0.0:0.9106|0.0:0.0894:0.0:0.9106	.|.	.|16;347;347;347	.|Q92614-2;Q92614-3;Q92614-4;Q92614	.|.;.;.;MY18A_HUMAN	D|T	52|347;347;347;347;347;27	.|ENSP00000346291:N347T;ENSP00000435932:N347T;ENSP00000434228:N347T;ENSP00000437073:N347T	.|ENSP00000346291:N347T	E|N	-|-	3|2	2|0	MYO18A|MYO18A	24473357|24473357	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	2.972000|2.972000	0.49256|0.49256	0.956000|0.956000	0.37904|0.37904	0.533000|0.533000	0.62120|0.62120	GAA|AAT		PASS	0.552	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	4	3	4	---	---	---	---
NSRP1	84081	broad.mit.edu	37	17	28499605	28499605	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:28499605G>T	ENST00000247026.5	+	3	223	c.160G>T	c.(160-162)Gcc>Tcc	p.A54S	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	54					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.A54S(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						TAAGAAGCAGGCCATGAAACA	0.383																																						uc002heu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)GCC>TCC		coiled-coil domain containing 55 isoform 1							68.0	66.0	67.0					17																	28499605		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28499605G>T	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.160G>T	17.37:g.28499605G>T	ENSP00000247026:p.Ala54Ser					CCDC55_uc002hev.2_5'UTR|CCDC55_uc010wbl.1_5'UTR|CCDC55_uc010wbm.1_5'UTR|CCDC55_uc002hex.2_5'UTR	p.A54S	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN			3	188	+			54					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.160G>T	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002434	0.74932	.	.	ENSG00000126653	ENST00000247026	T	0.48201	0.82	5.73	3.71	0.42584	.	0.340804	0.33272	N	0.005091	T	0.30634	0.0771	N	0.14661	0.345	0.80722	D	1	D	0.54772	0.968	P	0.45428	0.48	T	0.04041	-1.0982	10	0.11182	T	0.66	-3.165	12.3174	0.54964	0.1466:0.0:0.8534:0.0	.	54	Q9H0G5	NSRP1_HUMAN	S	54	ENSP00000247026:A54S	ENSP00000247026:A54S	A	+	1	0	NSRP1	25523731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.929000	0.56514	1.561000	0.49584	0.655000	0.94253	GCC		PASS	0.383	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		6	23	6	23	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34072636	34072636	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:34072636G>T	ENST00000254466.6	-	6	1907	c.1880C>A	c.(1879-1881)tCt>tAt	p.S627Y	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S611Y	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	627					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.S627Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATGACCCCAGACCTTGTGCC	0.577																																						uc002hjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1879-1881)TCT>TAT		growth arrest-specific 2 like 2							109.0	113.0	112.0					17																	34072636		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072636G>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1880C>A	17.37:g.34072636G>T	ENSP00000254466:p.Ser627Tyr						p.S627Y	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1908	-		Ovarian(249;0.17)	627					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1880C>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.824	0.938288	0.18206	.	.	ENSG00000132139	ENST00000254466	T	0.19938	2.11	4.24	3.27	0.37495	.	0.615502	0.15124	N	0.279187	T	0.22666	0.0547	L	0.29908	0.895	0.09310	N	1	P	0.52316	0.952	P	0.49752	0.621	T	0.05699	-1.0869	10	0.66056	D	0.02	-3.9539	11.6668	0.51379	0.0893:0.0:0.9107:0.0	.	627	Q8NHY3	GA2L2_HUMAN	Y	627	ENSP00000254466:S627Y	ENSP00000254466:S627Y	S	-	2	0	GAS2L2	31096749	0.327000	0.24678	0.003000	0.11579	0.017000	0.09413	4.194000	0.58393	1.396000	0.46663	-0.218000	0.12543	TCT		PASS	0.577	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		39	117	39	117	---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39658978	39658978	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:39658978G>T	ENST00000246635.3	-	5	1030	c.984C>A	c.(982-984)ctC>ctA	p.L328L	KRT13_ENST00000336861.3_Silent_p.L328L|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.L328L	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	328	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.L328L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCAGGCCTTGGAGCGTGCGCC	0.587																																						uc002hwu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(982-984)CTC>CTA		keratin 13 isoform a							166.0	149.0	155.0					17																	39658978		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658978G>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.984C>A	17.37:g.39658978G>T						KRT13_uc002hwv.1_Silent_p.L328L|KRT13_uc002hww.2_Silent_p.L221L|KRT13_uc010wfr.1_Silent_p.L221L|KRT13_uc010cxo.2_Silent_p.L328L|KRT13_uc002hwx.1_Silent_p.L316L	p.L328L	NM_153490	NP_705694	P13646	K1C13_HUMAN			5	1047	-		Breast(137;0.000286)	328			Rod.|Coil 2.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.984C>A	CCDS11396.1																																																																																				PASS	0.587	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		35	98	35	98	---	---	---	---
KRT17	3872	broad.mit.edu	37	17	39777062	39777062	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:39777062C>A	ENST00000311208.8	-	6	1097	c.1030G>T	c.(1030-1032)Ggg>Tgg	p.G344W	JUP_ENST00000540235.1_Missense_Mutation_p.G503W	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	344	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.G344W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCAATCAGCCCCTGGATCTGG	0.607																																					Pancreas(92;1242 2086 39193 50508)	uc002hxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1030-1032)GGG>TGG		keratin 17							58.0	60.0	59.0					17																	39777062		2203	4300	6503	SO:0001583	missense	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39777062C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1030G>T	17.37:g.39777062C>A	ENSP00000308452:p.Gly344Trp					JUP_uc010wfs.1_Intron	p.G344W	NM_000422	NP_000413	Q04695	K1C17_HUMAN			6	1151	-		Breast(137;0.000307)	344			Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Coil 2.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1030G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744672	0.49151	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.88975	-2.45;-2.45	4.02	4.02	0.46733	Filament (1);	0.000000	0.47852	D	0.000202	D	0.94561	0.8248	M	0.90309	3.105	0.26766	N	0.969891	D	0.67145	0.996	D	0.70016	0.967	D	0.88518	0.3094	10	0.56958	D	0.05	.	12.3036	0.54889	0.0:0.9144:0.0:0.0856	.	344	Q04695	K1C17_HUMAN	W	344;503	ENSP00000308452:G344W;ENSP00000441751:G503W	ENSP00000441751:G503W	G	-	1	0	JUP;KRT17	37030588	0.061000	0.20836	0.997000	0.53966	0.836000	0.47400	0.469000	0.22067	2.246000	0.74042	0.561000	0.74099	GGG		PASS	0.607	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		13	54	13	54	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246589	41246589	+	Missense_Mutation	SNP	C	C	G	rs397509339|rs80359872		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:41246589C>G	ENST00000357654.3	-	10	1077	c.959G>C	c.(958-960)aGa>aCa	p.R320T	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R320T|BRCA1_ENST00000309486.4_Missense_Mutation_p.R24T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R273T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R320T|BRCA1_ENST00000346315.3_Missense_Mutation_p.R320T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	320					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R320T(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAGCCCATCTGTTATGTTG	0.413			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(958-960)AGA>ACA	Homologous_recombination	breast cancer 1, early onset isoform 1							179.0	166.0	171.0					17																	41246589		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246589C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.959G>C	17.37:g.41246589C>G	ENSP00000350283:p.Arg320Thr	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R249T|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R273T|BRCA1_uc002ict.2_Missense_Mutation_p.R320T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R320T|BRCA1_uc002ide.1_Missense_Mutation_p.R151T|BRCA1_uc010cyy.1_Missense_Mutation_p.R320T|BRCA1_uc010whs.1_Missense_Mutation_p.R320T|BRCA1_uc010cyz.2_Missense_Mutation_p.R273T|BRCA1_uc010cza.2_Missense_Mutation_p.R294T|BRCA1_uc010wht.1_Missense_Mutation_p.R24T	p.R320T	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1191	-		Breast(137;0.000717)	320					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.959G>C	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.147155|3.147155	0.57151|0.57151	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.97752	.|-2.4;-2.62;-2.6;-2.29;-2.4;-2.52;-3.06;-4.52;-2.6;-2.74	4.95|4.95	3.96|3.96	0.45880|0.45880	.|.	.|0.094730	.|0.47455	.|D	.|0.000223	D|D	0.99096|0.99096	0.9689|0.9689	H|H	0.96748|0.96748	3.875|3.875	0.34161|0.34161	D|D	0.668639|0.668639	.|D;D;D;D;D;D	.|0.89917	.|0.993;0.993;0.998;0.999;1.0;1.0	.|P;P;D;D;D;D	.|0.97110	.|0.794;0.794;0.954;0.98;0.994;1.0	D|D	0.99953|0.99953	1.1581|1.1581	5|10	.|0.87932	.|D	.|0	.|.	13.2595|13.2595	0.60097|0.60097	0.1588:0.8412:0.0:0.0|0.1588:0.8412:0.0:0.0	.|.	.|320;279;320;320;320;320	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	H|T	186|320;320;320;320;24;320;273;320;294;24;320	.|ENSP00000350283:R320T;ENSP00000326002:R320T;ENSP00000246907:R320T;ENSP00000310938:R24T;ENSP00000418960:R320T;ENSP00000418775:R273T;ENSP00000419274:R320T;ENSP00000419988:R294T;ENSP00000418986:R24T;ENSP00000419103:R320T	.|ENSP00000310938:R24T	D|R	-|-	1|2	0|0	BRCA1|BRCA1	38500115|38500115	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	1.639000|1.639000	0.37176|0.37176	1.403000|1.403000	0.46800|0.46800	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.413	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		28	114	28	114	---	---	---	---
TMEM106A	113277	broad.mit.edu	37	17	41365217	41365217	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:41365217G>A	ENST00000331615.3	+	3	394	c.157G>A	c.(157-159)Gat>Aat	p.D53N	TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.D53N|TMEM106A_ENST00000536052.1_Missense_Mutation_p.D53N|TMEM106A_ENST00000541594.1_Missense_Mutation_p.D5N	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D53N(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		AGGAACTGCTGATGCCAGCTT	0.552																																						uc002idn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GAT>AAT		transmembrane protein 106A							144.0	129.0	134.0					17																	41365217		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41365217G>A	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.157G>A	17.37:g.41365217G>A	ENSP00000330774:p.Asp53Asn					TMEM106A_uc010why.1_Missense_Mutation_p.D5N|TMEM106A_uc010cze.1_Missense_Mutation_p.D53N|TMEM106A_uc010whz.1_Missense_Mutation_p.D53N	p.D53N	NM_145041	NP_659478	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	3	394	+		Breast(137;0.0164)	53					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.157G>A	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041642	0.19748	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.22336	1.99;1.99;1.96	4.64	1.25	0.21368	.	0.612744	0.16845	N	0.197179	T	0.09730	0.0239	N	0.08118	0	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	0.24083	-1.0170	10	0.62326	D	0.03	-6.6814	6.6562	0.22988	0.506:0.0:0.494:0.0	.	53;5;53	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	N	53;53;5	ENSP00000330774:D53N;ENSP00000439835:D53N;ENSP00000439844:D5N	ENSP00000330774:D53N	D	+	1	0	TMEM106A	38720743	0.000000	0.05858	0.001000	0.08648	0.653000	0.38743	-0.244000	0.08903	0.168000	0.19655	0.591000	0.81541	GAT		PASS	0.552	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		23	61	23	61	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61432617	61432617	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:61432617G>A	ENST00000424789.2	+	12	2230	c.2226G>A	c.(2224-2226)caG>caA	p.Q742Q	TANC2_ENST00000389520.4_Silent_p.Q742Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	742					in utero embryonic development (GO:0001701)			p.Q742Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGGATTTTCAGCAGAGAATGG	0.478																																						uc002jal.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2224-2226)CAG>CAA		tetratricopeptide repeat, ankyrin repeat and							62.0	56.0	58.0					17																	61432617		1957	4149	6106	SO:0001819	synonymous_variant	26115						binding	g.chr17:61432617G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2226G>A	17.37:g.61432617G>A						TANC2_uc010wpe.1_Silent_p.Q652Q|TANC2_uc002jam.1_Silent_p.Q109Q	p.Q742Q	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			12	2249	+			742					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.2226G>A	CCDS45754.1																																																																																				PASS	0.478	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			8	29	8	29	---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62175585	62175585	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:62175585C>T	ENST00000433197.3	-	2	166	c.71G>A	c.(70-72)aGc>aAc	p.S24N		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1									p.S24N(2)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGTCACTGTGCTGGTACTTCC	0.448																																						uc002jdz.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(70-72)AGC>AAC		endoplasmic reticulum to nucleus signalling 1							86.0	83.0	84.0					17																	62175585		2025	4195	6220	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62175585C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.71G>A	17.37:g.62175585C>T	ENSP00000401445:p.Ser24Asn						p.S24N	NM_001433	NP_001424	O75460	ERN1_HUMAN			2	184	-			24			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000433197.3	37	c.71G>A	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741086	0.49151	.	.	ENSG00000178607	ENST00000433197	T	0.32272	1.46	5.47	5.47	0.80525	Quinonprotein alcohol dehydrogenase-like (1);	0.043268	0.85682	D	0.000000	T	0.27169	0.0666	L	0.56769	1.78	0.40201	D	0.977514	B	0.09022	0.002	B	0.08055	0.003	T	0.08868	-1.0701	10	0.12766	T	0.61	-26.3417	10.3675	0.44033	0.0:0.9105:0.0:0.0895	.	24	O75460	ERN1_HUMAN	N	24	ENSP00000401445:S24N	ENSP00000401445:S24N	S	-	2	0	ERN1	59529317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.129000	0.50500	2.587000	0.87381	0.561000	0.74099	AGC		PASS	0.448	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		13	31	13	31	---	---	---	---
TMC6	11322	broad.mit.edu	37	17	76116838	76116838	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:76116838C>A	ENST00000590602.1	-	13	1770	c.1611G>T	c.(1609-1611)caG>caT	p.Q537H	TMC6_ENST00000322933.4_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.Q537H|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.Q537H|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	537					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.Q537H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCACTGGCCCTGCAGGACGC	0.622																																						uc002juj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1609-1611)CAG>CAT		transmembrane channel-like 6							100.0	98.0	99.0					17																	76116838		2203	4300	6503	SO:0001583	missense	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76116838C>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1611G>T	17.37:g.76116838C>A	ENSP00000465261:p.Gln537His					TMC6_uc002jui.1_Intron|TMC6_uc010dhf.1_Missense_Mutation_p.Q370H|TMC6_uc002juk.2_Missense_Mutation_p.Q537H|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.Q537H|TMC6_uc002jum.3_Missense_Mutation_p.Q328H|TMC6_uc002jun.3_Missense_Mutation_p.Q537H|TMC6_uc002juo.2_3'UTR	p.Q537H	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		12	1737	-			537			Lumenal (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1611G>T	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	6.814	0.519303	0.13005	.	.	ENSG00000141524	ENST00000322914;ENST00000392467	T;T	0.67865	-0.29;-0.29	4.85	3.65	0.41850	.	1.036700	0.07645	N	0.931059	T	0.56307	0.1976	L	0.34521	1.04	0.44685	D	0.997677	B;B	0.30709	0.291;0.141	B;B	0.33799	0.087;0.17	T	0.54642	-0.8263	10	0.39692	T	0.17	-15.293	6.8836	0.24187	0.0:0.7049:0.1835:0.1116	.	537;537	B3KTU5;Q7Z403	.;TMC6_HUMAN	H	537	ENSP00000313408:Q537H;ENSP00000376260:Q537H	ENSP00000313408:Q537H	Q	-	3	2	TMC6	73628433	0.000000	0.05858	0.321000	0.25320	0.027000	0.11550	0.270000	0.18607	2.228000	0.72767	0.462000	0.41574	CAG		PASS	0.622	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			23	65	23	65	---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79803439	79803439	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:79803439T>C	ENST00000331483.4	-	9	1579	c.1357A>G	c.(1357-1359)Acg>Gcg	p.T453A	P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Missense_Mutation_p.T409A|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	453	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.T453A(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGGCGCACCGTCCTGTCGGCA	0.642																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1357-1359)ACG>GCG		prolyl 4-hydroxylase, beta subunit precursor							77.0	64.0	68.0					17																	79803439		2203	4299	6502	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79803439T>C	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1357A>G	17.37:g.79803439T>C	ENSP00000327801:p.Thr453Ala					P4HB_uc002kbl.1_Missense_Mutation_p.T130A|P4HB_uc002kbm.1_Missense_Mutation_p.T130A	p.T453A	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		9	1554	-	all_neural(118;0.0878)|Ovarian(332;0.12)		453			Thioredoxin 2.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.1357A>G	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.201|7.201	0.593438|0.593438	0.13875|0.13875	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000415593|ENST00000331483;ENST00000537205;ENST00000436463;ENST00000439918	.|T	.|0.03124	.|4.04	5.52|5.52	4.44|4.44	0.53790|0.53790	.|Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	.|0.429696	.|0.27622	.|N	.|0.018545	T|T	0.02012|0.02012	0.0063|0.0063	N|N	0.02296|0.02296	-0.605|-0.605	0.29030|0.29030	N|N	0.885739|0.885739	.|B	.|0.15141	.|0.012	.|B	.|0.15052	.|0.012	T|T	0.33777|0.33777	-0.9855|-0.9855	5|10	.|0.45353	.|T	.|0.12	.|.	11.4414|11.4414	0.50099|0.50099	0.0:0.0712:0.0:0.9288|0.0:0.0712:0.0:0.9288	.|.	.|453	.|P07237	.|PDIA1_HUMAN	G|A	218|453;396;437;257	.|ENSP00000327801:T453A	.|ENSP00000327801:T453A	D|T	-|-	2|1	0|0	P4HB|P4HB	77396728|77396728	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.210000|0.210000	0.24377|0.24377	4.105000|4.105000	0.57797|0.57797	0.928000|0.928000	0.37168|0.37168	0.482000|0.482000	0.46254|0.46254	GAC|ACG		PASS	0.642	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		5	12	5	12	---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79910847	79910847	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:79910847T>A	ENST00000409678.3	-	11	1864	c.1481A>T	c.(1480-1482)aAc>aTc	p.N494I		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	494						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.N428I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTAGCTTCCGTTGCTCAGCAT	0.667																																						uc010wvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1480-1482)AAC>ATC		notum pectinacetylesterase homolog precursor							70.0	68.0	68.0					17																	79910847		2203	4300	6503	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79910847T>A	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1481A>T	17.37:g.79910847T>A	ENSP00000387310:p.Asn494Ile						p.N494I	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		11	1753	-	all_neural(118;0.0878)|Ovarian(332;0.12)		494					Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.1481A>T	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	t	10.31	1.315320	0.23908	.	.	ENSG00000185269	ENST00000409678	.	.	.	5.12	0.448	0.16614	.	0.220156	0.53938	D	0.000048	T	0.25606	0.0623	L	0.38175	1.15	0.21782	N	0.999545	P	0.39576	0.679	B	0.39660	0.306	T	0.12863	-1.0531	9	0.72032	D	0.01	-5.5993	6.4967	0.22146	0.0:0.6469:0.1288:0.2243	.	494	Q6P988	NOTUM_HUMAN	I	494	.	ENSP00000387310:N494I	N	-	2	0	NOTUM	77504137	0.855000	0.29742	0.006000	0.13384	0.085000	0.17905	1.680000	0.37607	-0.101000	0.12219	-0.197000	0.12766	AAC		PASS	0.667	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		24	67	24	67	---	---	---	---
FN3K	64122	broad.mit.edu	37	17	80708298	80708298	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr17:80708298G>C	ENST00000300784.7	+	6	659	c.597G>C	c.(595-597)aaG>aaC	p.K199N	TBCD_ENST00000539345.2_5'Flank|TBCD_ENST00000397466.2_5'Flank|TBCD_ENST00000355528.4_5'Flank	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	199					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)	p.K199N(1)		central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CGTAGGTGAAGATCCCGGATC	0.577																																					Melanoma(10;391 597 14592 32548 32749)	uc010wvs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)AAG>AAC		fructosamine 3 kinase							91.0	77.0	81.0					17																	80708298		2203	4300	6503	SO:0001583	missense	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80708298G>C	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.597G>C	17.37:g.80708298G>C	ENSP00000300784:p.Lys199Asn					TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	p.K199N	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	658	+	Breast(20;0.000523)|all_neural(118;0.0952)		199						Missense_Mutation	SNP	ENST00000300784.7	37	c.597G>C	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.578714	0.86645	.	.	ENSG00000167363	ENST00000300784	T	0.52983	0.64	4.38	3.39	0.38822	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.31420	0.93	0.80722	D	1	P	0.50156	0.932	P	0.57283	0.817	T	0.37126	-0.9719	9	.	.	.	-16.0684	12.268	0.54689	0.0892:0.0:0.9108:0.0	.	199	Q9H479	FN3K_HUMAN	N	199	ENSP00000300784:K199N	.	K	+	3	2	FN3K	78301587	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.475000	0.66787	2.159000	0.67721	0.580000	0.79431	AAG		PASS	0.577	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		18	26	18	26	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2920816	2920816	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr18:2920816C>G	ENST00000261596.4	-	19	2744	c.2506G>C	c.(2506-2508)Ggt>Cgt	p.G836R	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	836	C-LIP.				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.G836R(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)		ATTAATTCACCCTTGGGGTTC	0.493																																						uc002klo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2506-2508)GGT>CGT		lipin 2							157.0	132.0	140.0					18																	2920816		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.chr18:2920816C>G	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.2506G>C	18.37:g.2920816C>G	ENSP00000261596:p.Gly836Arg						p.G836R	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	19	2745	-			836			C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2506G>C	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396622	0.96009	.	.	ENSG00000101577	ENST00000261596	T	0.80123	-1.34	6.03	6.03	0.97812	LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93712	0.7025	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	836	Q92539	LPIN2_HUMAN	R	836	ENSP00000261596:G836R	ENSP00000261596:G836R	G	-	1	0	LPIN2	2910816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.861000	0.98227	0.655000	0.94253	GGT		PASS	0.493	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		7	56	7	56	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43262473	43262473	+	Missense_Mutation	SNP	G	G	A	rs368161253		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr18:43262473G>A	ENST00000255226.6	+	20	3568	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	SLC14A2_ENST00000586448.1_Missense_Mutation_p.D918N|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.D395N	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	918					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.D918N(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGGCCTACGATGTCTCCTA	0.498																																						uc010dnj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2752-2754)GAT>AAT		solute carrier family 14 (urea transporter),							124.0	114.0	117.0					18																	43262473		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43262473G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2752G>A	18.37:g.43262473G>A	ENSP00000255226:p.Asp918Asn					SLC14A2_uc002lbe.2_Missense_Mutation_p.D918N	p.D918N	NM_007163	NP_009094	Q15849	UT2_HUMAN			21	3073	+			918					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2752G>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181538	0.57800	.	.	ENSG00000132874	ENST00000255226	T	0.37411	1.2	4.82	4.82	0.62117	.	0.205992	0.33916	N	0.004440	T	0.32763	0.0840	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	P	0.44597	0.454	T	0.16453	-1.0402	10	0.66056	D	0.02	-8.069	13.7458	0.62874	0.0:0.0:1.0:0.0	.	918	Q15849	UT2_HUMAN	N	918	ENSP00000255226:D918N	ENSP00000255226:D918N	D	+	1	0	SLC14A2	41516471	0.886000	0.30341	0.950000	0.38849	0.182000	0.23217	4.670000	0.61583	2.362000	0.80069	0.561000	0.74099	GAT		PASS	0.498	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			9	36	9	36	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46145966	46145966	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr18:46145966C>T	ENST00000256413.3	+	2	325	c.30C>T	c.(28-30)tcC>tcT	p.S10S	CTIF_ENST00000382998.4_Silent_p.S10S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	10	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.S10S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CATCAGCCTCCTCGGAGGCAG	0.637																																						uc002ldc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)TCC>TCT		hypothetical protein LOC9811 isoform 1							19.0	19.0	19.0					18																	46145966		2197	4295	6492	SO:0001819	synonymous_variant	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46145966C>T	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.30C>T	18.37:g.46145966C>T						KIAA0427_uc002ldd.2_Silent_p.S10S	p.S10S	NM_014772	NP_055587	O43310	CTIF_HUMAN			2	315	+			10			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	c.30C>T	CCDS11935.1																																																																																				PASS	0.637	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		5	4	5	4	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2216567	2216567	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:2216567G>T	ENST00000398665.3	+	20	2247	c.2211G>T	c.(2209-2211)caG>caT	p.Q737H	DOT1L_ENST00000608122.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	737					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.Q737H(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACGCCCCAGTACCTGGCCT	0.672																																						uc002lvb.3																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2209-2211)CAG>CAT		DOT1-like, histone H3 methyltransferase							39.0	46.0	44.0					19																	2216567		2061	4190	6251	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216567G>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2211G>T	19.37:g.2216567G>T	ENSP00000381657:p.Gln737His					DOT1L_uc002lvc.1_Missense_Mutation_p.Q31H|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.Q31H	p.Q737H	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2247	+		Hepatocellular(1079;0.137)	737					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2211G>T	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.04|14.04	2.415346|2.415346	0.42817|0.42817	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.26373|.	1.74|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.141125|.	0.51477|.	D|.	0.000089|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.50333|0.50333	1.59|1.59	0.31230|0.31230	N|N	0.696427|0.696427	P;B|.	0.35272|.	0.493;0.065|.	B;B|.	0.32864|.	0.154;0.056|.	T|T	0.61282|0.61282	-0.7094|-0.7094	10|5	0.87932|.	D|.	0|.	-32.7438|-32.7438	15.481|15.481	0.75528|0.75528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	737;737|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	H|I	737|524	ENSP00000381657:Q737H|.	ENSP00000221482:Q737H|.	Q|S	+|+	3|2	2|0	DOT1L|DOT1L	2167567|2167567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	1.788000|1.788000	0.38714|0.38714	2.437000|2.437000	0.82529|0.82529	0.655000|0.655000	0.94253|0.94253	CAG|AGT		PASS	0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		15	46	15	46	---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2878324	2878324	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:2878324G>T	ENST00000307635.2	+	4	1455	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	ZNF556_ENST00000586426.1_Missense_Mutation_p.K455N	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	456					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.K456N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACATCTAAGTAATGGGGGA	0.463																																						uc002lwp.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1366-1368)AAG>AAT		zinc finger protein 556							56.0	63.0	61.0					19																	2878324		2173	4281	6454	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2878324G>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1368G>T	19.37:g.2878324G>T	ENSP00000302603:p.Lys456Asn					ZNF556_uc002lwq.2_Missense_Mutation_p.K455N	p.K456N	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1455	+			456					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.1368G>T	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970310	0.18659	.	.	ENSG00000172000	ENST00000307635	T	0.05447	3.44	2.31	-0.657	0.11432	.	.	.	.	.	T	0.05181	0.0138	L	0.38733	1.17	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38779	-0.9645	9	0.87932	D	0	.	4.5101	0.11906	0.0:0.416:0.3365:0.2475	.	456	Q9HAH1	ZN556_HUMAN	N	456	ENSP00000302603:K456N	ENSP00000302603:K456N	K	+	3	2	ZNF556	2829324	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.180000	0.03088	0.155000	0.19261	0.205000	0.17691	AAG		PASS	0.463	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	41	4	41	---	---	---	---
STAP2	55620	broad.mit.edu	37	19	4333705	4333705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:4333705C>A	ENST00000594605.1	-	3	406	c.283G>T	c.(283-285)Gag>Tag	p.E95*	STAP2_ENST00000600324.1_Nonsense_Mutation_p.E95*	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	95	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.E95*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTTGATCTCCTGATCCCGG	0.547																																						uc002mab.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(283-285)GAG>TAG		signal transducing adaptor family member 2							70.0	65.0	66.0					19																	4333705		2203	4300	6503	SO:0001587	stop_gained	55620					cytoplasm|nucleus	protein binding	g.chr19:4333705C>A	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.283G>T	19.37:g.4333705C>A	ENSP00000471052:p.Glu95*					STAP2_uc002mac.2_Nonsense_Mutation_p.E95*|STAP2_uc002mad.2_5'UTR	p.E95*	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	3	380	-		Hepatocellular(1079;0.137)	95			PH.		A6NKK3|Q9NXI2	Nonsense_Mutation	SNP	ENST00000594605.1	37	c.283G>T	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270944	0.95429	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.02	5.02	0.67125	.	0.528712	0.19682	U	0.108490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.8766	13.9397	0.64048	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000317912:E95X	E	-	1	0	STAP2	4284705	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	3.769000	0.55303	2.356000	0.79943	0.533000	0.62120	GAG		PASS	0.547	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		10	26	10	26	---	---	---	---
C3	718	broad.mit.edu	37	19	6678018	6678018	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:6678018C>G	ENST00000245907.6	-	41	4959	c.4867G>C	c.(4867-4869)Ggg>Cgg	p.G1623R	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1623	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.G1623R(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTGTCCTTCCCGATGATGTAG	0.622																																						uc002mfm.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(4867-4869)GGG>CGG		complement component 3 precursor							132.0	108.0	116.0					19																	6678018		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6678018C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4867G>C	19.37:g.6678018C>G	ENSP00000245907:p.Gly1623Arg					C3_uc002mfl.2_Missense_Mutation_p.G359R	p.G1623R	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	41	4929	-			1623			NTR.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4867G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780086	0.49891	.	.	ENSG00000125730	ENST00000245907	T	0.60424	0.19	4.98	3.94	0.45596	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.114979	0.64402	D	0.000018	T	0.78259	0.4255	M	0.90977	3.165	0.47511	D	0.999445	D;D	0.89917	0.965;1.0	P;D	0.85130	0.727;0.997	T	0.81455	-0.0925	10	0.59425	D	0.04	.	10.3875	0.44150	0.0:0.9045:0.0:0.0955	.	1623;1058	P01024;B4E216	CO3_HUMAN;.	R	1623	ENSP00000245907:G1623R	ENSP00000245907:G1623R	G	-	1	0	C3	6629018	0.957000	0.32711	0.991000	0.47740	0.043000	0.13939	2.066000	0.41452	2.312000	0.78011	0.454000	0.30748	GGG		PASS	0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		14	53	14	53	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7117363	7117363	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:7117363C>T	ENST00000302850.5	-	22	3995	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	INSR_ENST00000341500.5_Missense_Mutation_p.E1273K	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.E1285K(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTGACAATCTCCAGGAAGGTT	0.597																																						uc002mgd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(3853-3855)GAG>AAG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						117.0	107.0	110.0					19																	7117363		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117363C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3853G>A	19.37:g.7117363C>T	ENSP00000303830:p.Glu1285Lys					INSR_uc002mge.1_Missense_Mutation_p.E1273K	p.E1285K	NM_000208	NP_000199	P06213	INSR_HUMAN			22	3962	-			1285			Protein kinase.|Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3853G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315799	0.81469	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.90844	-2.74;-2.74	5.14	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.144353	0.31092	N	0.008265	D	0.91580	0.7340	M	0.62209	1.925	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.52109	0.563;0.69	D	0.91600	0.5294	10	0.54805	T	0.06	.	13.2332	0.59955	0.0:0.8392:0.1608:0.0	.	1273;1285	P06213-2;P06213	.;INSR_HUMAN	K	1285;1273	ENSP00000303830:E1285K;ENSP00000342838:E1273K	ENSP00000303830:E1285K	E	-	1	0	INSR	7068363	1.000000	0.71417	0.987000	0.45799	0.634000	0.38068	5.566000	0.67372	1.351000	0.45789	0.563000	0.77884	GAG		PASS	0.597	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			16	55	16	55	---	---	---	---
EVI5L	115704	broad.mit.edu	37	19	7913882	7913882	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:7913882C>T	ENST00000270530.4	+	4	599	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	EVI5L_ENST00000538904.2_Missense_Mutation_p.P135S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	135	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.P135S(1)		breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CACGGACATGCCCGTCAAGAA	0.642																																						uc002min.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)CCC>TCC		ecotropic viral integration site 5-like isoform							43.0	38.0	40.0					19																	7913882		2203	4300	6503	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7913882C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.403C>T	19.37:g.7913882C>T	ENSP00000270530:p.Pro135Ser					EVI5L_uc010xjz.1_Missense_Mutation_p.P135S|EVI5L_uc002mio.1_5'Flank	p.P135S	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			4	557	+			135			Rab-GAP TBC.		B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.403C>T	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347793	0.41599	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.10573	2.86;2.86	4.48	4.48	0.54585	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	N	0.25992	0.78	0.58432	D	0.999998	B;B	0.25521	0.128;0.004	B;B	0.35039	0.194;0.027	T	0.17440	-1.0369	10	0.42905	T	0.14	-19.0914	14.6647	0.68899	0.0:1.0:0.0:0.0	.	135;135	B9A6I9;Q96CN4	.;EVI5L_HUMAN	S	135	ENSP00000270530:P135S;ENSP00000445905:P135S	ENSP00000270530:P135S	P	+	1	0	EVI5L	7819882	1.000000	0.71417	0.997000	0.53966	0.441000	0.31987	7.320000	0.79064	2.316000	0.78162	0.462000	0.41574	CCC		PASS	0.642	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		3	25	3	25	---	---	---	---
ICAM1	3383	broad.mit.edu	37	19	10394882	10394882	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:10394882T>C	ENST00000264832.3	+	4	1136	c.811T>C	c.(811-813)Tcg>Ccg	p.S271P	ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.S49P|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	271	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.S271P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CGACTCCTTCTCGGCCAAGGC	0.627																																						uc002mnq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)TCG>CCG		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						81.0	61.0	68.0					19																	10394882		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394882T>C		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.811T>C	19.37:g.10394882T>C	ENSP00000264832:p.Ser271Pro					ICAM1_uc010xle.1_Missense_Mutation_p.S49P|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.S271P	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1130	+			271			Ig-like C2-type 3.|Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.811T>C	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.686906	0.48097	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.06142	3.34;3.34	4.32	-4.57	0.03421	Immunoglobulin-like fold (1);	2.247750	0.02494	N	0.089827	T	0.11324	0.0276	L	0.42245	1.32	0.09310	N	1	D;D	0.71674	0.998;0.99	P;P	0.60012	0.588;0.867	T	0.32693	-0.9897	10	0.37606	T	0.19	-0.7421	2.6164	0.04905	0.5686:0.0923:0.131:0.2082	.	49;271	E7ESS4;P05362	.;ICAM1_HUMAN	P	271;49	ENSP00000264832:S271P;ENSP00000413124:S49P	ENSP00000264832:S271P	S	+	1	0	ICAM1	10255882	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.066000	0.11598	-0.731000	0.04862	0.334000	0.21626	TCG		PASS	0.627	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			9	31	9	31	---	---	---	---
KANK2	25959	broad.mit.edu	37	19	11304442	11304442	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:11304442C>T	ENST00000586659.1	-	4	628	c.314G>A	c.(313-315)cGt>cAt	p.R105H	KANK2_ENST00000432929.2_Missense_Mutation_p.R105H|KANK2_ENST00000589359.1_Missense_Mutation_p.R105H|KANK2_ENST00000589894.1_Missense_Mutation_p.R105H|KANK2_ENST00000355150.5_Missense_Mutation_p.R105H			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	105					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.R105H(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAGAAGCCACGGCCGCAGTA	0.667																																						uc010dxv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CGT>CAT		ankyrin repeat domain 25 isoform 1							45.0	49.0	48.0					19																	11304442		2200	4290	6490	SO:0001583	missense	25959							g.chr19:11304442C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.314G>A	19.37:g.11304442C>T	ENSP00000465650:p.Arg105His					KANK2_uc002mqm.2_Missense_Mutation_p.R105H|KANK2_uc002mqo.3_Missense_Mutation_p.R105H|KANK2_uc002mqp.1_Translation_Start_Site|KANK2_uc002mqq.2_Missense_Mutation_p.R105H	p.R105H	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			6	872	-			105					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.314G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540310	0.45176	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.45276	0.9;0.92	4.38	4.38	0.52667	.	0.080563	0.51477	D	0.000085	T	0.62720	0.2451	M	0.67397	2.05	0.35969	D	0.835176	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.976;0.994	T	0.73448	-0.3979	10	0.62326	D	0.03	-36.4454	15.7129	0.77644	0.0:1.0:0.0:0.0	.	105;105;105	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	H	105	ENSP00000395650:R105H;ENSP00000347276:R105H	ENSP00000347276:R105H	R	-	2	0	KANK2	11165442	1.000000	0.71417	0.980000	0.43619	0.173000	0.22820	5.062000	0.64326	1.986000	0.57962	0.462000	0.41574	CGT		PASS	0.667	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		13	44	13	44	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12814277	12814277	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:12814277G>A	ENST00000592287.1	-	19	2282	c.2174C>T	c.(2173-2175)gCc>gTc	p.A725V	SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000450764.2_Missense_Mutation_p.A725V|TNPO2_ENST00000441499.1_Missense_Mutation_p.A725V|TNPO2_ENST00000425528.1_Missense_Mutation_p.A725V|TNPO2_ENST00000356861.5_Missense_Mutation_p.A725V|TNPO2_ENST00000588216.1_Missense_Mutation_p.A725V	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	725					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.A725V(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCCAGGTGGCGTTGTTGCA	0.607																																						uc002muo.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2173-2175)GCC>GTC		transportin 2 (importin 3, karyopherin beta 2b)							119.0	128.0	125.0					19																	12814277		2034	4195	6229	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12814277G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2174C>T	19.37:g.12814277G>A	ENSP00000468434:p.Ala725Val					TNPO2_uc002mup.2_Missense_Mutation_p.A817V|TNPO2_uc002muq.2_Missense_Mutation_p.A725V|TNPO2_uc002mur.2_Missense_Mutation_p.A725V	p.A725V	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			19	2359	-			725			HEAT 12.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.2174C>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835789	0.97003	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000546320	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.91249	3.19	0.80722	D	1	D;D	0.65815	0.995;0.993	P;P	0.54100	0.742;0.492	D	0.88317	0.2960	10	0.87932	D	0	-11.4751	18.1657	0.89724	0.0:0.0:1.0:0.0	.	889;725	Q4LE60;O14787	.;TNPO2_HUMAN	V	889;725;725;725;725;725	ENSP00000407182:A725V;ENSP00000389648:A725V;ENSP00000397379:A725V;ENSP00000349321:A725V	ENSP00000349321:A725V	A	-	2	0	TNPO2	12675277	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.439000	0.97543	2.587000	0.87381	0.655000	0.94253	GCC		PASS	0.607	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		18	68	18	68	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15479110	15479110	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:15479110C>A	ENST00000269701.2	-	9	1156	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	366					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D366Y(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ttcttcacatcctcgtcctcg	0.617																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1096-1098)GAT>TAT		A-kinase anchor protein 8							308.0	276.0	287.0					19																	15479110		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15479110C>A	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1096G>T	19.37:g.15479110C>A	ENSP00000269701:p.Asp366Tyr					AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.D180Y	p.D366Y	NM_005858	NP_005849	O43823	AKAP8_HUMAN			9	1157	-			366						Missense_Mutation	SNP	ENST00000269701.2	37	c.1096G>T	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407112	0.42715	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.45668	0.89	5.09	5.09	0.68999	.	0.324876	0.26010	N	0.026890	T	0.32071	0.0817	N	0.22421	0.69	0.37563	D	0.919155	P;P	0.44195	0.828;0.828	B;B	0.40782	0.34;0.34	T	0.38564	-0.9655	10	0.72032	D	0.01	-6.1122	13.8728	0.63629	0.0:1.0:0.0:0.0	.	366;366	Q8NE02;O43823	.;AKAP8_HUMAN	Y	366;115	ENSP00000269701:D366Y	ENSP00000269701:D366Y	D	-	1	0	AKAP8	15340110	0.994000	0.37717	0.982000	0.44146	0.014000	0.08584	3.182000	0.50910	2.653000	0.90120	0.655000	0.94253	GAT		PASS	0.617	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		12	72	12	72	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155187	22155187	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:22155187A>C	ENST00000397126.4	-	4	2797	c.2649T>G	c.(2647-2649)caT>caG	p.H883Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	883					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.H783Q(4)|p.H883Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCTCCAGTATGAATTTTCT	0.373																																						uc002nqp.2																			6	Substitution - Missense(6)		lung(6)	ovary(5)|skin(2)	7						c.(2347-2349)CAT>CAG		zinc finger protein 208							41.0	44.0	43.0					19																	22155187		2052	4209	6261	SO:0001583	missense	7757							g.chr19:22155187A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2649T>G	19.37:g.22155187A>C	ENSP00000380315:p.His883Gln					ZNF208_uc002nqo.1_Intron	p.H783Q	NM_007153	NP_009084					5	2498	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2349T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282933	0.40394	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.66995	-0.24	2.58	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76190	0.3953	.	.	.	0.23962	N	0.996335	D	0.76494	0.999	D	0.85130	0.997	T	0.67039	-0.5771	8	0.87932	D	0	.	8.3196	0.32121	0.3694:0.0:0.6306:0.0	.	783	O43345	ZN208_HUMAN	Q	883;783	ENSP00000380315:H883Q	ENSP00000380315:H883Q	H	-	3	2	ZNF208	21947027	0.997000	0.39634	0.029000	0.17559	0.012000	0.07955	1.884000	0.39668	-0.504000	0.06577	-0.804000	0.03201	CAT		PASS	0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		18	46	18	46	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31767946	31767946	+	Missense_Mutation	SNP	G	G	A	rs199819394		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:31767946G>A	ENST00000240587.4	-	2	3080	c.2753C>T	c.(2752-2754)tCa>tTa	p.S918L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	918					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S735L(1)|p.S918L(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCCTTCTGAGGTCTGCCG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17782	0.001		0.0	False		,,,				2504	0.0					uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2752-2754)TCA>TTA		zinc finger protein 537							42.0	43.0	42.0					19																	31767946		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767946G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2753C>T	19.37:g.31767946G>A	ENSP00000240587:p.Ser918Leu						p.S918L	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2818	-	Esophageal squamous(110;0.226)		918			Homeobox; atypical.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2753C>T	CCDS12421.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.62	1.992561	0.35131	.	.	ENSG00000121297	ENST00000240587	T	0.14893	2.47	5.39	5.39	0.77823	Homeobox (2);Homeodomain-like (1);	0.424990	0.26428	N	0.024433	T	0.17619	0.0423	L	0.42245	1.32	0.22710	N	0.998829	B	0.33694	0.421	B	0.25140	0.058	T	0.14227	-1.0480	10	0.72032	D	0.01	-13.2807	19.1608	0.93531	0.0:0.0:1.0:0.0	.	918	Q63HK5	TSH3_HUMAN	L	918	ENSP00000240587:S918L	ENSP00000240587:S918L	S	-	2	0	TSHZ3	36459786	0.997000	0.39634	0.841000	0.33234	0.914000	0.54420	3.826000	0.55738	2.509000	0.84616	0.591000	0.81541	TCA		PASS	0.632	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	18	4	18	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33698454	33698454	+	Silent	SNP	C	C	T	rs150965907		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:33698454C>T	ENST00000253193.7	+	7	2488	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	762					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.S762S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TGGAGGCCAGCGATGATGAGG	0.652																																						uc010edh.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2284-2286)AGC>AGT		low density lipoprotein receptor-related protein		C		1,4321		0,1,2160	15.0	17.0	17.0		2286	0.2	1.0	19	dbSNP_134	17	6,8428		0,6,4211	no	coding-synonymous	LRP3	NM_002333.3		0,7,6371	TT,TC,CC		0.0711,0.0231,0.0549		762/771	33698454	7,12749	2161	4217	6378	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33698454C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2286C>T	19.37:g.33698454C>T						LRP3_uc002nuk.3_Silent_p.S636S	p.S762S	NM_002333	NP_002324	O75074	LRP3_HUMAN			7	2379	+	Esophageal squamous(110;0.137)		762			Cytoplasmic (Potential).		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.2286C>T	CCDS12430.1																																																																																				PASS	0.652	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			5	10	5	10	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35231910	35231910	+	Silent	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:35231910A>G	ENST00000492450.1	+	4	713	c.624A>G	c.(622-624)aaA>aaG	p.K208K	ZNF181_ENST00000392232.3_Silent_p.K252K|ZNF181_ENST00000459757.2_Silent_p.K207K			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	208					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.K144K(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGGAAAGAAACTTTTGAATT	0.343																																						uc002nvu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(622-624)AAA>AAG		zinc finger protein 181 isoform 1							65.0	75.0	71.0					19																	35231910		2201	4299	6500	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231910A>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.624A>G	19.37:g.35231910A>G						ZNF181_uc010xsa.1_Silent_p.K207K|ZNF181_uc010xsb.1_Silent_p.K207K|ZNF181_uc010xsc.1_Silent_p.K143K	p.K208K	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1087	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		208					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.624A>G	CCDS32990.2																																																																																				PASS	0.343	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		11	90	11	90	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36330159	36330159	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:36330159T>A	ENST00000378910.5	-	22	3088	c.3089A>T	c.(3088-3090)cAg>cTg	p.Q1030L	NPHS1_ENST00000353632.6_Missense_Mutation_p.Q1030L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1030	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.Q1030L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATGGGAAGCTGGGTCCCTTT	0.547																																						uc002oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3088-3090)CAG>CTG		nephrin precursor							92.0	87.0	89.0					19																	36330159		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36330159T>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3089A>T	19.37:g.36330159T>A	ENSP00000368190:p.Gln1030Leu					NPHS1_uc010eem.1_RNA	p.Q1030L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		22	3089	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1030			Fibronectin type-III.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.3089A>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	6.863	0.528581	0.13127	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.73789	-0.76;-0.78	4.57	3.49	0.39957	Fibronectin, type III (1);	0.497863	0.21211	N	0.078320	T	0.43875	0.1267	N	0.08118	0	0.25276	N	0.989471	B	0.16802	0.019	B	0.12156	0.007	T	0.34527	-0.9825	10	0.06365	T	0.9	-7.3494	2.9267	0.05786	0.2168:0.1183:0.0:0.6649	.	1030	O60500	NPHN_HUMAN	L	1030	ENSP00000368190:Q1030L;ENSP00000343634:Q1030L	ENSP00000343634:Q1030L	Q	-	2	0	NPHS1	41021999	1.000000	0.71417	0.915000	0.36163	0.976000	0.68499	1.488000	0.35551	1.940000	0.56252	0.473000	0.43528	CAG		PASS	0.547	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			22	52	22	52	---	---	---	---
GGN	199720	broad.mit.edu	37	19	38876086	38876086	+	Missense_Mutation	SNP	G	G	T	rs200060379		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:38876086G>T	ENST00000334928.6	-	3	1948	c.1816C>A	c.(1816-1818)Cgc>Agc	p.R606S	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_5'UTR	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	606	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.R606S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTGGCAGGCGGCGATGGCGT	0.637																																						uc002oij.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1816-1818)CGC>AGC		gametogenetin							49.0	36.0	41.0					19																	38876086		2203	4300	6503	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876086G>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1816C>A	19.37:g.38876086G>T	ENSP00000334940:p.Arg606Ser					GGN_uc002oik.1_RNA|GGN_uc010efy.1_3'UTR	p.R606S	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1951	-	all_cancers(60;3.4e-06)		606			Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.1816C>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584216	0.65992	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.57	2.48	0.30137	.	0.183972	0.26553	N	0.023724	T	0.51398	0.1672	L	0.29908	0.895	0.31428	N	0.673502	D	0.67145	0.996	D	0.72982	0.979	T	0.56517	-0.7966	9	0.87932	D	0	-5.6685	8.4646	0.32949	0.0:0.2405:0.7595:0.0	.	606	Q86UU5	GGN_HUMAN	S	606	.	ENSP00000334940:R606S	R	-	1	0	GGN	43567926	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	0.859000	0.27858	0.650000	0.30769	0.455000	0.32223	CGC		PASS	0.637	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		4	23	4	23	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39866417	39866417	+	Silent	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:39866417C>G	ENST00000314471.6	+	7	1830	c.795C>G	c.(793-795)ccC>ccG	p.P265P	SAMD4B_ENST00000598913.1_Silent_p.P265P|SAMD4B_ENST00000596368.1_Silent_p.P265P	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P265P(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTACCACGCCCGATCACGCAC	0.647																																						uc002olb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(793-795)CCC>CCG		sterile alpha motif domain containing 4B							70.0	74.0	73.0					19																	39866417		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39866417C>G		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.795C>G	19.37:g.39866417C>G						SAMD4B_uc002ola.2_Silent_p.P265P	p.P265P	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		7	1830	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		265					A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.795C>G	CCDS33020.1																																																																																				PASS	0.647	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		16	115	16	115	---	---	---	---
CEACAM8	1088	broad.mit.edu	37	19	43092999	43092999	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:43092999A>T	ENST00000244336.5	-	4	996	c.895T>A	c.(895-897)Tgc>Agc	p.C299S	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	299	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.C299S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTGGTGTGGCAGGCATAGGAT	0.493																																						uc002oud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(895-897)TGC>AGC		carcinoembryonic antigen-related cell adhesion							180.0	166.0	171.0					19																	43092999		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43092999A>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.895T>A	19.37:g.43092999A>T	ENSP00000244336:p.Cys299Ser					uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.C299S	NM_001816	NP_001807	P31997	CEAM8_HUMAN			4	997	-		Prostate(69;0.00899)	299			Ig-like C2-type 2.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.895T>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	a	14.97	2.693884	0.48202	.	.	ENSG00000124469	ENST00000244336	T	0.58210	0.35	2.6	1.53	0.23141	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80742	0.4681	H	0.99336	4.52	0.24419	N	0.994626	D	0.89917	1.0	D	0.97110	1.0	T	0.67741	-0.5592	9	0.87932	D	0	.	5.6678	0.17704	0.7189:0.2811:0.0:0.0	.	299	P31997	CEAM8_HUMAN	S	299	ENSP00000244336:C299S	ENSP00000244336:C299S	C	-	1	0	CEACAM8	47784839	0.004000	0.15560	0.156000	0.22583	0.223000	0.24884	1.478000	0.35442	0.216000	0.20781	0.260000	0.18958	TGC		PASS	0.493	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			16	65	16	65	---	---	---	---
PHLDB3	653583	broad.mit.edu	37	19	43998909	43998909	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:43998909T>C	ENST00000292140.5	-	9	1454	c.1094A>G	c.(1093-1095)cAc>cGc	p.H365R		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	365							enzyme binding (GO:0019899)	p.H365R(1)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGCAGCGGAGTGGGCCACGGC	0.592																																						uc002own.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)CAC>CGC		pleckstrin homology-like domain, family B,							36.0	45.0	42.0					19																	43998909		2099	4228	6327	SO:0001583	missense	653583							g.chr19:43998909T>C		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1094A>G	19.37:g.43998909T>C	ENSP00000292140:p.His365Arg					PHLDB3_uc010eit.2_Missense_Mutation_p.H69R	p.H365R	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			9	1353	-		Prostate(69;0.0153)	365					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.1094A>G	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.104337	0.00356	.	.	ENSG00000176531	ENST00000292140	T	0.48522	0.81	3.65	2.52	0.30459	.	.	.	.	.	T	0.37865	0.1019	L	0.29908	0.895	0.09310	N	1	B;D	0.53885	0.421;0.963	B;P	0.49421	0.055;0.61	T	0.10520	-1.0626	9	0.18276	T	0.48	.	6.5382	0.22365	0.0:0.0:0.2489:0.7511	.	69;365	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	R	365	ENSP00000292140:H365R	ENSP00000292140:H365R	H	-	2	0	PHLDB3	48690749	0.001000	0.12720	0.131000	0.22000	0.030000	0.12068	-0.393000	0.07305	1.660000	0.50760	0.378000	0.23410	CAC		PASS	0.592	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			4	10	4	10	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46318944	46318944	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:46318944C>T	ENST00000245934.7	-	27	3943	c.3699G>A	c.(3697-3699)gcG>gcA	p.A1233A	RSPH6A_ENST00000221538.3_5'Flank|RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1233					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A1233A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCAGCCCGCCCGCTGCCGTCT	0.701																																						uc002pdn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3697-3699)GCG>GCA		symplekin							14.0	15.0	14.0					19																	46318944		2200	4299	6499	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46318944C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3699G>A	19.37:g.46318944C>T						RSPH6A_uc002pdm.2_5'Flank	p.A1233A	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	27	3944	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1233					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.3699G>A	CCDS12676.2																																																																																				PASS	0.701	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	13	3	13	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46331129	46331129	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:46331129G>A	ENST00000245934.7	-	15	2277	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	678					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A678V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CACCTCCAGGGCACTCTCTGT	0.652																																						uc002pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2032-2034)GCC>GTC		symplekin							107.0	105.0	106.0					19																	46331129		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46331129G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2033C>T	19.37:g.46331129G>A	ENSP00000245934:p.Ala678Val					SYMPK_uc002pdo.1_Missense_Mutation_p.A678V|SYMPK_uc002pdp.1_Missense_Mutation_p.A678V	p.A678V	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	15	2278	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	678					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2033C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069198	0.76301	.	.	ENSG00000125755	ENST00000245934	T	0.71934	-0.61	5.46	5.46	0.80206	Armadillo-type fold (1);	0.112900	0.64402	D	0.000014	T	0.66257	0.2771	L	0.45581	1.43	0.80722	D	1	B;B	0.22541	0.071;0.001	B;B	0.19391	0.025;0.003	T	0.62927	-0.6750	10	0.46703	T	0.11	.	16.8671	0.86032	0.0:0.0:1.0:0.0	.	693;678	Q4LE61;Q92797	.;SYMPK_HUMAN	V	678	ENSP00000245934:A678V	ENSP00000245934:A678V	A	-	2	0	SYMPK	51022969	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.444000	0.97578	2.591000	0.87537	0.650000	0.86243	GCC		PASS	0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		29	101	29	101	---	---	---	---
IGFL3	388555	broad.mit.edu	37	19	46627157	46627157	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:46627157G>A	ENST00000341415.2	-	3	360	c.336C>T	c.(334-336)tcC>tcT	p.S112S	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	112						extracellular region (GO:0005576)		p.S112S(1)		endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		TACAGCTCCGGGAGATGGGAG	0.507																																						uc002pea.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)TCC>TCT		IGF-like family member 3 precursor							157.0	183.0	175.0					19																	46627157		2189	4300	6489	SO:0001819	synonymous_variant	388555					extracellular region	protein binding	g.chr19:46627157G>A	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.336C>T	19.37:g.46627157G>A							p.S112S	NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	361	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	112						Silent	SNP	ENST00000341415.2	37	c.336C>T	CCDS33058.1																																																																																				PASS	0.507	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		51	165	51	165	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47969318	47969318	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:47969318C>T	ENST00000236877.6	-	2	738	c.343G>A	c.(343-345)Gag>Aag	p.E115K	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	115					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.E115K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACGCTGGTCTCACCGTTGGCC	0.577																																						uc002pgx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(343-345)GAG>AAG		solute carrier family 8 member 2 precursor							129.0	79.0	96.0					19																	47969318		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969318C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.343G>A	19.37:g.47969318C>T	ENSP00000236877:p.Glu115Lys					SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E115K	p.E115K	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	621	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	115			Cytoplasmic (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.343G>A	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803545	0.90623	.	.	ENSG00000118160	ENST00000236877	T	0.37235	1.21	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.66939	2.045	0.80722	D	1	D	0.57571	0.98	P	0.54924	0.764	T	0.56080	-0.8038	10	0.54805	T	0.06	.	15.6004	0.76620	0.0:1.0:0.0:0.0	.	115	Q9UPR5	NAC2_HUMAN	K	115	ENSP00000236877:E115K	ENSP00000236877:E115K	E	-	1	0	SLC8A2	52661130	1.000000	0.71417	0.990000	0.47175	0.939000	0.58152	7.597000	0.82733	2.210000	0.71456	0.462000	0.41574	GAG		PASS	0.577	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			13	48	13	48	---	---	---	---
PNKP	11284	broad.mit.edu	37	19	50365447	50365447	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:50365447G>A	ENST00000322344.3	-	12	1230	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|PNKP_ENST00000600573.1_Missense_Mutation_p.P343L|AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600910.1_Missense_Mutation_p.P374L|PNKP_ENST00000596014.1_Missense_Mutation_p.P374L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	374	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P374L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CTTACCCCCAGGGAATCCCAC	0.692								Other BER factors																														uc002pqh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1120-1122)CCT>CTT	Other_BER_factors	polynucleotide kinase 3' phosphatase							44.0	40.0	41.0					19																	50365447		2203	4299	6502	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365447G>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1121C>T	19.37:g.50365447G>A	ENSP00000323511:p.Pro374Leu					PNKP_uc002pqg.2_Missense_Mutation_p.P155L|PNKP_uc002pqi.2_Missense_Mutation_p.P335L|PNKP_uc002pqj.2_Missense_Mutation_p.P374L|PNKP_uc010enm.2_Missense_Mutation_p.P343L|PNKP_uc002pqk.2_Missense_Mutation_p.P374L	p.P374L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	11	1173	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	374			ATP (Potential).		Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.1121C>T	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616663	0.66672	.	.	ENSG00000039650	ENST00000322344	T	0.59638	0.25	4.81	3.78	0.43462	.	0.000000	0.64402	D	0.000001	T	0.78046	0.4222	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81059	-0.1104	10	0.87932	D	0	-11.473	8.0152	0.30376	0.1094:0.0:0.8906:0.0	.	335;374	Q9BUL2;Q96T60	.;PNKP_HUMAN	L	374	ENSP00000323511:P374L	ENSP00000323511:P374L	P	-	2	0	PNKP	55057259	1.000000	0.71417	0.996000	0.52242	0.292000	0.27327	3.301000	0.51842	2.213000	0.71641	0.561000	0.74099	CCT		PASS	0.692	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		4	8	4	8	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086198	55086198	+	Splice_Site	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:55086198G>C	ENST00000251377.3	+	5	486	c.353G>C	c.(352-354)gGa>gCa	p.G118A	LILRA2_ENST00000391738.3_Splice_Site_p.G118A|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Splice_Site_p.G118A|LILRA2_ENST00000391737.1_Splice_Site_p.G106A|LILRA2_ENST00000495786.1_3'UTR			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	118	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G118A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCTCTCCTAGGAGCCTACAGC	0.607																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(352-354)GGA>GCA		leukocyte immunoglobulin-like receptor,							110.0	108.0	108.0					19																	55086198		2203	4300	6503	SO:0001630	splice_region_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086198G>C	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.353-1G>C	19.37:g.55086198G>C						LILRA2_uc010ern.2_Missense_Mutation_p.G118A|LILRA2_uc002qgf.2_Missense_Mutation_p.G118A|LILRA2_uc010yfe.1_Missense_Mutation_p.G118A|LILRA2_uc010yff.1_Missense_Mutation_p.G106A|LILRA2_uc010ero.2_Missense_Mutation_p.G106A|LILRA2_uc010yfg.1_Missense_Mutation_p.G118A	p.G118A	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	442	+			118			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.353G>C	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060873	0.36373	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.01369	4.97;4.97;4.97;4.97;4.97	2.93	0.504	0.16946	Immunoglobulin-like fold (1);	0.275088	0.25654	N	0.029198	T	0.08313	0.0207	M	0.93062	3.375	0.09310	N	0.999992	D;D;D;D;D	0.89917	0.999;0.994;0.994;1.0;0.998	P;P;P;D;D	0.74674	0.906;0.658;0.902;0.984;0.963	T	0.05733	-1.0867	9	.	.	.	.	5.7678	0.18237	0.2795:0.0:0.7205:0.0	.	118;118;106;118;118	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	A	118;118;118;118;106	ENSP00000388131:G118A;ENSP00000251377:G118A;ENSP00000375618:G118A;ENSP00000251376:G118A;ENSP00000375617:G106A	.	G	+	2	0	LILRA2	59778010	0.080000	0.21391	0.012000	0.15200	0.010000	0.07245	0.167000	0.16602	0.081000	0.16988	0.508000	0.49915	GGA		PASS	0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		Missense_Mutation	11	71	11	71	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55494355	55494355	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:55494355T>G	ENST00000543010.1	+	6	1432	c.1289T>G	c.(1288-1290)cTg>cGg	p.L430R	NLRP2_ENST00000339757.7_Missense_Mutation_p.L408R|NLRP2_ENST00000537859.1_Missense_Mutation_p.L408R|NLRP2_ENST00000427260.2_Missense_Mutation_p.L407R|NLRP2_ENST00000448584.2_Missense_Mutation_p.L430R|NLRP2_ENST00000263437.6_Missense_Mutation_p.L427R|NLRP2_ENST00000538819.1_Missense_Mutation_p.L406R|NLRP2_ENST00000391721.4_Missense_Mutation_p.L406R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	430	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.L430R(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGCTGTTCCTGCGTTTCCTC	0.721																																						uc002qij.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1288-1290)CTG>CGG		NLR family, pyrin domain containing 2							9.0	9.0	9.0					19																	55494355		2133	4149	6282	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494355T>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1289T>G	19.37:g.55494355T>G	ENSP00000445135:p.Leu430Arg					NLRP2_uc010yfp.1_Missense_Mutation_p.L407R|NLRP2_uc010esn.2_Missense_Mutation_p.L406R|NLRP2_uc010eso.2_Missense_Mutation_p.L427R|NLRP2_uc010esp.2_Missense_Mutation_p.L408R	p.L430R	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1375	+			430			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1289T>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250504	0.59212	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.77358	-1.04;-0.98;-0.98;-1.04;-0.98;-1.09;-0.98;-1.05	1.64	1.64	0.23874	.	0.000000	0.26424	N	0.024459	D	0.86481	0.5943	M	0.87547	2.89	0.31959	N	0.6086	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999	D	0.85010	0.0905	10	0.59425	D	0.04	.	7.3683	0.26787	0.0:0.0:0.0:1.0	.	407;408;427;406;430	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	R	430;406;408;430;408;407;406;427	ENSP00000445135:L430R;ENSP00000375601:L406R;ENSP00000344074:L408R;ENSP00000409370:L430R;ENSP00000440601:L408R;ENSP00000402474:L407R;ENSP00000441133:L406R;ENSP00000263437:L427R	ENSP00000263437:L427R	L	+	2	0	NLRP2	60186167	0.408000	0.25360	0.020000	0.16555	0.247000	0.25773	2.175000	0.42491	1.040000	0.40099	0.454000	0.30748	CTG		PASS	0.721	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		4	8	4	8	---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089577	57089577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:57089577G>T	ENST00000330619.8	+	6	2466	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*	ZNF470_ENST00000391709.3_Nonsense_Mutation_p.E594*|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E594*(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAGACCGTATGAATGTCTTGA	0.433																																						uc002qnl.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1780-1782)GAA>TAA		zinc finger protein 470							97.0	92.0	94.0					19																	57089577		2203	4300	6503	SO:0001587	stop_gained	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089577G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1780G>T	19.37:g.57089577G>T	ENSP00000333223:p.Glu594*					ZNF470_uc010etn.2_Intron	p.E594*	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2456	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	594			C2H2-type 14.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Nonsense_Mutation	SNP	ENST00000330619.8	37	c.1780G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	42	9.762968	0.99257	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.51233	D	0.999919	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	8.1395	0.31076	0.1077:0.0:0.8923:0.0	.	.	.	.	X	594	.	ENSP00000333223:E594X	E	+	1	0	ZNF470	61781389	0.000000	0.05858	0.623000	0.29173	0.995000	0.86356	-0.653000	0.05360	2.277000	0.76020	0.655000	0.94253	GAA		PASS	0.433	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		16	64	16	64	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57909797	57909797	+	Splice_Site	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:57909797G>T	ENST00000366197.5	+	3	392		c.e3-1		ZNF548_ENST00000597400.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|AC003002.4_ENST00000597658.1_Splice_Site|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Splice_Site	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548						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.?(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTCTGACAGGTTCTTGGCA	0.507																																						uc002qom.2																			1	Unknown(1)		lung(1)	breast(1)	1						c.e3-1		zinc finger protein 548							108.0	103.0	105.0					19																	57909797		2177	4295	6472	SO:0001630	splice_region_variant	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57909797G>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.143-1G>T	19.37:g.57909797G>T						ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Splice_Site_p.G51_splice	p.G48_splice	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	393	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)						Q96M05	Splice_Site	SNP	ENST00000366197.5	37	c.143_splice	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	g	14.34	2.506096	0.44558	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	.	.	.	3.08	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0629	0.36444	0.0:0.0:0.7814:0.2186	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF548	62601609	0.009000	0.17119	0.986000	0.45419	0.587000	0.36485	0.513000	0.22770	1.752000	0.51891	0.460000	0.39030	.		PASS	0.507	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	Intron	14	51	14	51	---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084835	58084835	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr19:58084835T>G	ENST00000196489.3	-	4	659	c.437A>C	c.(436-438)gAg>gCg	p.E146A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	146					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.E146A(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CAAGGGTTTCTCTGCACTATG	0.522																																						uc002qpf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GAG>GCG		zinc finger protein 416							102.0	85.0	90.0					19																	58084835		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084835T>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.437A>C	19.37:g.58084835T>G	ENSP00000196489:p.Glu146Ala					ZNF547_uc002qpm.3_Intron	p.E146A	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	608	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	146					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.437A>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	9.039	0.989294	0.18966	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.09350	2.99	1.85	-0.368	0.12537	.	.	.	.	.	T	0.13756	0.0333	M	0.66439	2.03	0.09310	N	1	P	0.51057	0.941	P	0.46172	0.506	T	0.14531	-1.0469	9	0.72032	D	0.01	.	4.2457	0.10670	0.0:0.402:0.0:0.598	.	146	Q9BWM5	ZN416_HUMAN	A	146;132;126	ENSP00000196489:E146A	ENSP00000196489:E146A	E	-	2	0	ZNF416	62776647	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.881000	0.28173	-0.176000	0.10707	0.496000	0.49642	GAG		PASS	0.522	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		12	27	12	27	---	---	---	---
SIRPD	128646	broad.mit.edu	37	20	1532540	1532540	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:1532540T>A	ENST00000381623.3	-	2	1407	c.218A>T	c.(217-219)aAa>aTa	p.K73I	SIRPD_ENST00000381621.1_Missense_Mutation_p.K73I			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	73	Ig-like V-type.					extracellular region (GO:0005576)		p.K73I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GTAGATTAATTTCCGGTTTGG	0.458																																						uc002wfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(217-219)AAA>ATA		signal-regulatory protein delta precursor							148.0	146.0	147.0					20																	1532540		2203	4300	6503	SO:0001583	missense	128646					extracellular region		g.chr20:1532540T>A	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.218A>T	20.37:g.1532540T>A	ENSP00000371036:p.Lys73Ile						p.K73I	NM_178460	NP_848555	Q9H106	SIRPD_HUMAN			2	262	-			73			Ig-like V-type.		B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	c.218A>T	CCDS13018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.5|22.5	4.296440|4.296440	0.81025|0.81025	.|.	.|.	ENSG00000125900|ENSG00000125900	ENST00000381623;ENST00000381621|ENST00000429387	T;T|.	0.67523|.	-0.27;1.21|.	4.03|4.03	4.03|4.03	0.46877|0.46877	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.693493|.	0.12327|.	U|.	0.478713|.	T|T	0.48003|0.48003	0.1476|0.1476	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	D|.	0.65815|.	0.995|.	P|.	0.61658|.	0.892|.	T|T	0.36648|0.36648	-0.9739|-0.9739	10|5	0.46703|.	T|.	0.11|.	.|.	9.5679|9.5679	0.39409|0.39409	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	73|.	Q9H106|.	SIRPD_HUMAN|.	I|Y	73|16	ENSP00000371036:K73I;ENSP00000371034:K73I|.	ENSP00000371034:K73I|.	K|N	-|-	2|1	0|0	SIRPD|SIRPD	1480540|1480540	0.002000|0.002000	0.14202|0.14202	0.101000|0.101000	0.21167|0.21167	0.828000|0.828000	0.46876|0.46876	1.147000|1.147000	0.31602|0.31602	1.828000|1.828000	0.53243|0.53243	0.456000|0.456000	0.33151|0.33151	AAA|AAT		PASS	0.458	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		9	45	9	45	---	---	---	---
SIRPG	55423	broad.mit.edu	37	20	1629992	1629992	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:1629992C>T	ENST00000303415.3	-	2	200	c.136G>A	c.(136-138)Gga>Aga	p.G46R	SIRPG_ENST00000381580.1_Missense_Mutation_p.G13R|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Missense_Mutation_p.G46R|SIRPG_ENST00000344103.4_Missense_Mutation_p.G46R|SIRPG_ENST00000381583.2_Missense_Mutation_p.G46R	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	46	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G46R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCTGTCTTTCCAACTGTGACC	0.512																																						uc002wfm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)GGA>AGA		signal-regulatory protein gamma isoform 1							87.0	86.0	87.0					20																	1629992		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629992C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.136G>A	20.37:g.1629992C>T	ENSP00000305529:p.Gly46Arg					SIRPG_uc002wfn.1_Missense_Mutation_p.G46R|SIRPG_uc002wfo.1_Missense_Mutation_p.G46R	p.G46R	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	201	-			46			Extracellular (Potential).|Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.136G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	13.30	2.196369	0.38806	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	D	0.90304	0.6967	H	0.94808	3.585	0.09310	N	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.994	T	0.79985	-0.1572	10	0.87932	D	0	.	7.3585	0.26733	0.0:1.0:0.0:0.0	.	46;46;46	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	R	13;46;46;46;46	ENSP00000370992:G13R;ENSP00000342759:G46R;ENSP00000305529:G46R;ENSP00000370995:G46R;ENSP00000216927:G46R	ENSP00000216927:G46R	G	-	1	0	SIRPG	1577992	0.115000	0.22152	0.051000	0.19133	0.035000	0.12851	0.746000	0.26275	1.392000	0.46585	0.195000	0.17529	GGA		PASS	0.512	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		9	43	9	43	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3675336	3675336	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:3675336G>A	ENST00000344754.4	-	11	2917	c.2918C>T	c.(2917-2919)gCt>gTt	p.A973V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A973V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	973	Ig-like C2-type 9.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A973V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GATGGGTGCAGCTAGGCTCGT	0.602																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2917-2919)GCT>GTT		sialoadhesin precursor							64.0	59.0	60.0					20																	3675336		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3675336G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2918C>T	20.37:g.3675336G>A	ENSP00000341141:p.Ala973Val					SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A973V	p.A973V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			11	2918	-			973			Ig-like C2-type 9.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.2918C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071492	0.55646	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.03358	3.96;3.96	4.61	4.61	0.57282	Immunoglobulin-like (1);	0.000000	0.41605	D	0.000860	T	0.12518	0.0304	L	0.47716	1.5	0.33676	D	0.61146	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.987	T	0.04781	-1.0927	10	0.44086	T	0.13	.	14.985	0.71342	0.0:0.0:1.0:0.0	.	973;973	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	973	ENSP00000341141:A973V;ENSP00000202578:A973V	ENSP00000202578:A973V	A	-	2	0	SIGLEC1	3623336	0.982000	0.34865	0.842000	0.33263	0.211000	0.24417	3.839000	0.55835	2.405000	0.81733	0.561000	0.74099	GCT		PASS	0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		10	30	10	30	---	---	---	---
PRNT	149830	broad.mit.edu	37	20	4713082	4713082	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:4713082C>G	ENST00000326539.2	-	2	1178	c.241G>C	c.(241-243)Gac>Cac	p.D81H	PRNT_ENST00000418528.1_Missense_Mutation_p.D81H|PRNT_ENST00000423718.2_Missense_Mutation_p.D81H			Q86SH4	PRNT_HUMAN	prion protein (testis specific)	81						extracellular region (GO:0005576)		p.D81H(2)		endometrium(2)|lung(5)	7						gcctggcagtccactggaatc	0.478																																						uc002wlb.2																			2	Substitution - Missense(2)		lung(2)		0								Homo sapiens mRNA for putative M8 protein, isoform 2.							68.0	53.0	58.0					20																	4713082		2203	4300	6503	SO:0001583	missense	149830							g.chr20:4713082C>G	AL137296, AJ427539		20p13	2013-04-02			ENSG00000180259	ENSG00000180259			18046	other	unknown	"""M8 protein"""					12514748	Standard	NR_024267		Approved	M8	uc010zqq.2	Q86SH4	OTTHUMG00000031785	ENST00000326539.2:c.241G>C	20.37:g.4713082C>G	ENSP00000321242:p.Asp81His					PRNT_uc010zqp.1_RNA|PRNT_uc010zqq.1_RNA		NR_024268						2		-								B2RPD9|B7ZBI9	RNA	SNP	ENST00000326539.2	37	c.942G>C		.	.	.	.	.	.	.	.	.	.	C	6.436	0.448585	0.12223	.	.	ENSG00000180259	ENST00000418528;ENST00000326539;ENST00000423718	T;T;T	0.69685	-0.42;-0.42;-0.42	2.12	1.05	0.20165	.	.	.	.	.	T	0.61937	0.2387	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55958	-0.8058	6	0.72032	D	0.01	.	6.1451	0.20280	0.0:0.6769:0.3231:0.0	.	.	.	.	H	81	ENSP00000409280:D81H;ENSP00000321242:D81H;ENSP00000404306:D81H	ENSP00000321242:D81H	D	-	1	0	PRNT	4661082	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.004000	0.03678	0.383000	0.24910	0.514000	0.50259	GAC		PASS	0.478	PRNT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000253006.2	NM_177549		3	6	3	6	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20392785	20392785	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:20392785C>T	ENST00000202677.7	-	38	5510	c.5503G>A	c.(5503-5505)Gag>Aag	p.E1835K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1835	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.E1835K(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGAGCTCGCTCTTCATAGCTG	0.458																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5503-5505)GAG>AAG		akt substrate AS250							192.0	191.0	191.0					20																	20392785		1951	4161	6112	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20392785C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5503G>A	20.37:g.20392785C>T	ENSP00000202677:p.Glu1835Lys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.E1539K|RALGAPA2_uc010zsg.1_Missense_Mutation_p.E1283K	p.E1835K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			38	5646	-			1835			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.5503G>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232397	0.79688	.	.	ENSG00000188559	ENST00000417022;ENST00000202677	D;D	0.95342	-3.68;-3.68	5.94	5.94	0.96194	Rap/ran-GAP (2);	0.000000	0.64402	D	0.000006	D	0.97888	0.9306	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.988;0.995	D	0.97722	1.0197	10	0.56958	D	0.05	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	1673;1835	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	K	265;1835	ENSP00000408332:E265K;ENSP00000202677:E1835K	ENSP00000202677:E1835K	E	-	1	0	RALGAPA2	20340785	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.329000	0.79170	2.816000	0.96949	0.563000	0.77884	GAG		PASS	0.458	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		32	100	32	100	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36625155	36625155	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:36625155G>A	ENST00000373448.2	-	7	3232	c.2994C>T	c.(2992-2994)gaC>gaT	p.D998D	TTI1_ENST00000373447.3_Silent_p.D998D|TTI1_ENST00000449821.1_Silent_p.D998D	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	998					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.D998D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACCCACCTAGGTCCAGTCTCT	0.612																																						uc002xhl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2992-2994)GAC>GAT		hypothetical protein LOC9675							101.0	102.0	102.0					20																	36625155		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36625155G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2994C>T	20.37:g.36625155G>A						KIAA0406_uc002xhm.2_Silent_p.D998D	p.D998D	NM_014657	NP_055472	O43156	TTI1_HUMAN			7	3203	-		Myeloproliferative disorder(115;0.00874)	998					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.2994C>T	CCDS13300.1																																																																																				PASS	0.612	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		24	90	24	90	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47249125	47249125	+	Silent	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:47249125G>A	ENST00000371941.3	-	34	4342	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I	PREX1_ENST00000396220.1_Silent_p.I1440I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1440					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I1440I(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGAGGTAGAAGATGACCTTCA	0.612																																						uc002xtw.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(4318-4320)ATC>ATT		phosphatidylinositol-3,4,							67.0	61.0	63.0					20																	47249125		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47249125G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4320C>T	20.37:g.47249125G>A						PREX1_uc002xtv.1_Silent_p.I737I	p.I1440I	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		34	4343	-			1440					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.4320C>T	CCDS13410.1																																																																																				PASS	0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		13	27	13	27	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52570017	52570017	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:52570017C>A	ENST00000395961.3	-	11	1800	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	BCAS1_ENST00000434986.2_Missense_Mutation_p.R211I|BCAS1_ENST00000371440.3_Missense_Mutation_p.R554I|BCAS1_ENST00000371435.2_Missense_Mutation_p.R467I	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	545						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R545I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTCTCAGGTCTCTTTTGGAG	0.542																																						uc002xws.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1633-1635)AGA>ATA		breast carcinoma amplified sequence 1							141.0	122.0	129.0					20																	52570017		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570017C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1634G>T	20.37:g.52570017C>A	ENSP00000379290:p.Arg545Ile					BCAS1_uc010zza.1_Missense_Mutation_p.R211I|BCAS1_uc010zzb.1_Missense_Mutation_p.R471I|BCAS1_uc010gim.2_Missense_Mutation_p.R401I|BCAS1_uc002xwt.2_Missense_Mutation_p.R531I|BCAS1_uc010gil.1_Missense_Mutation_p.R467I	p.R545I	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1972	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		545					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1634G>T	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.94|14.94	2.685350|2.685350	0.47991|0.47991	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.34472	.|2.06;2.33;2.36;2.31;1.36	5.17|5.17	0.987|0.987	0.19790|0.19790	.|.	.|0.617145	.|0.17504	.|N	.|0.171883	T|T	0.48409|0.48409	0.1498|0.1498	L|L	0.56769|0.56769	1.78|1.78	0.43540|0.43540	D|D	0.995832|0.995832	.|D;P;D;D;D;D	.|0.63880	.|0.989;0.941;0.989;0.958;0.993;0.993	.|D;P;D;P;D;D	.|0.63877	.|0.919;0.555;0.919;0.663;0.917;0.917	T|T	0.35025|0.35025	-0.9805|-0.9805	5|10	.|0.49607	.|T	.|0.09	-9.6219|-9.6219	8.9085|8.9085	0.35539|0.35539	0.0:0.6096:0.0:0.3904|0.0:0.6096:0.0:0.3904	.|.	.|545;211;554;467;545;545	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	Y|I	208|416;554;345;545;467;211	.|ENSP00000396361:R416I;ENSP00000360495:R554I;ENSP00000379290:R545I;ENSP00000360490:R467I;ENSP00000409956:R211I	.|ENSP00000360490:R467I	D|R	-|-	1|2	0|0	BCAS1|BCAS1	52003424|52003424	0.005000|0.005000	0.15991|0.15991	0.046000|0.046000	0.18839|0.18839	0.652000|0.652000	0.38707|0.38707	-0.153000|-0.153000	0.10144|0.10144	-0.042000|-0.042000	0.13535|0.13535	0.555000|0.555000	0.69702|0.69702	GAC|AGA		PASS	0.542	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		19	57	19	57	---	---	---	---
CBLN4	140689	broad.mit.edu	37	20	54573783	54573783	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:54573783C>T	ENST00000064571.2	-	3	1736	c.436G>A	c.(436-438)Gta>Ata	p.V146I		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	146	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.V146I(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GCAGATATTACTGGTTTTCCA	0.353																																						uc002xxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(436-438)GTA>ATA		cerebellin 4 precursor							68.0	64.0	66.0					20																	54573783		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54573783C>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.436G>A	20.37:g.54573783C>T	ENSP00000064571:p.Val146Ile						p.V146I	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1221	-			146			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.436G>A	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016543	0.54468	.	.	ENSG00000054803	ENST00000064571	T	0.39229	1.09	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.25647	0.755	0.80722	D	1	P	0.35107	0.484	B	0.38225	0.268	T	0.06844	-1.0804	10	0.21540	T	0.41	-13.2373	19.6506	0.95805	0.0:1.0:0.0:0.0	.	146	Q9NTU7	CBLN4_HUMAN	I	146	ENSP00000064571:V146I	ENSP00000064571:V146I	V	-	1	0	CBLN4	54007190	1.000000	0.71417	0.988000	0.46212	0.961000	0.63080	4.918000	0.63376	2.640000	0.89533	0.591000	0.81541	GTA		PASS	0.353	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		7	42	7	42	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60856156	60856156	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:60856156C>A	ENST00000313733.3	+	8	919	c.717C>A	c.(715-717)gtC>gtA	p.V239V	OSBPL2_ENST00000358053.2_Silent_p.V227V|OSBPL2_ENST00000439951.2_Silent_p.V147V	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	239					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.V239V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CCTGCTGCGTCCACAACGTCA	0.532																																						uc002yck.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(715-717)GTC>GTA		oxysterol-binding protein-like protein 2 isoform							150.0	139.0	143.0					20																	60856156		2203	4300	6503	SO:0001819	synonymous_variant	9885				lipid transport		lipid binding	g.chr20:60856156C>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.717C>A	20.37:g.60856156C>A						OSBPL2_uc002ycl.1_Silent_p.V227V|OSBPL2_uc011aah.1_Silent_p.V147V|OSBPL2_uc002ycm.1_Silent_p.V51V	p.V239V	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		8	919	+	Breast(26;7.76e-09)		239					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	c.717C>A	CCDS13495.1																																																																																				PASS	0.532	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		26	84	26	84	---	---	---	---
OPRL1	4987	broad.mit.edu	37	20	62724187	62724187	+	Silent	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr20:62724187C>G	ENST00000349451.3	+	4	526	c.114C>G	c.(112-114)ctC>ctG	p.L38L	OPRL1_ENST00000355631.4_Silent_p.L38L|OPRL1_ENST00000336866.2_Silent_p.L38L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	38					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.L38L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATCTGCTGCTCAATGCCAGCC	0.662																																						uc002yic.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(112-114)CTC>CTG		opiate receptor-like 1							75.0	74.0	74.0					20																	62724187		2200	4286	6486	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62724187C>G		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.114C>G	20.37:g.62724187C>G						OPRL1_uc002yid.2_Silent_p.L38L|OPRL1_uc002yif.3_Silent_p.L38L	p.L38L	NM_182647	NP_872588	P41146	OPRX_HUMAN			3	516	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		38			Extracellular (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.114C>G	CCDS13556.1																																																																																				PASS	0.662	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		10	43	10	43	---	---	---	---
KRTAP24-1	643803	broad.mit.edu	37	21	31654736	31654736	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr21:31654736G>C	ENST00000340345.4	-	1	540	c.515C>G	c.(514-516)aCt>aGt	p.T172S		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	172						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T172S(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATACCCCAAAGTACTCAATCT	0.438																																						uc002ynv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)ACT>AGT		keratin associated protein 24-1							138.0	133.0	135.0					21																	31654736		1869	4106	5975	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654736G>C	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.515C>G	21.37:g.31654736G>C	ENSP00000339238:p.Thr172Ser						p.T172S	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			1	541	-			172					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.515C>G	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	G	2.043	-0.419554	0.04734	.	.	ENSG00000188694	ENST00000340345	T	0.03035	4.07	4.93	1.96	0.26148	.	0.818706	0.10574	N	0.658776	T	0.01320	0.0043	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47761	-0.9092	10	0.06757	T	0.87	-1.845	4.7528	0.13068	0.0:0.5897:0.1884:0.2219	.	172	Q3LI83	KR241_HUMAN	S	172	ENSP00000339238:T172S	ENSP00000339238:T172S	T	-	2	0	KRTAP24-1	30576607	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	0.038000	0.13862	0.275000	0.22094	-0.344000	0.07964	ACT		PASS	0.438	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		19	86	19	86	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40670440	40670440	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr21:40670440C>A	ENST00000333229.2	-	5	594	c.267G>T	c.(265-267)ttG>ttT	p.L89F	BRWD1_ENST00000342449.3_Missense_Mutation_p.L89F|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000380800.3_Missense_Mutation_p.L89F|BRWD1_ENST00000341322.4_Missense_Mutation_p.L89F	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	89					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L89F(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTCTTTATCCAACATAGGAC	0.423																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(265-267)TTG>TTT		bromodomain and WD repeat domain containing 1							126.0	133.0	130.0					21																	40670440		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40670440C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.267G>T	21.37:g.40670440C>A	ENSP00000330753:p.Leu89Phe					BRWD1_uc002yxl.2_Missense_Mutation_p.L89F|BRWD1_uc002yxm.2_Missense_Mutation_p.L89F	p.L89F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			5	406	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	89					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.267G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748242	0.69533	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000051	T	0.64583	0.2611	M	0.74258	2.255	0.43494	D	0.99573	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.85130	0.925;0.989;0.997	T	0.67601	-0.5629	10	0.87932	D	0	-5.0934	14.3509	0.66702	0.1481:0.8519:0.0:0.0	.	89;89;89	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	F	89	ENSP00000330753:L89F;ENSP00000344333:L89F;ENSP00000370178:L89F;ENSP00000342106:L89F	ENSP00000330753:L89F	L	-	3	2	BRWD1	39592310	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.363000	0.34159	2.623000	0.88846	0.467000	0.42956	TTG		PASS	0.423	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		23	104	23	104	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45825915	45825915	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr21:45825915C>T	ENST00000397928.1	+	18	3230	c.2785C>T	c.(2785-2787)Cgg>Tgg	p.R929W	TRPM2_ENST00000397932.2_Missense_Mutation_p.R929W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R929W|TRPM2_ENST00000300481.9_Missense_Mutation_p.R909W	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	929					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.R929W(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CATTGTGAAGCGGATGGTAAG	0.637																																						uc002zet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2785-2787)CGG>TGG		transient receptor potential cation channel,							98.0	110.0	106.0					21																	45825915		2203	4297	6500	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45825915C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2785C>T	21.37:g.45825915C>T	ENSP00000381023:p.Arg929Trp					TRPM2_uc002zeu.1_Missense_Mutation_p.R929W|TRPM2_uc002zew.1_Missense_Mutation_p.R929W|TRPM2_uc010gpt.1_Missense_Mutation_p.R929W|TRPM2_uc002zex.1_Missense_Mutation_p.R715W|TRPM2_uc002zey.1_Missense_Mutation_p.R442W	p.R929W	NM_003307	NP_003298	O94759	TRPM2_HUMAN			19	2998	+			929			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2785C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	c	17.40	3.379980	0.61845	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	3.95	1.62	0.23740	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.84174	0.5414	M	0.88241	2.94	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.85907	0.1438	10	0.87932	D	0	-30.6148	11.3915	0.49817	0.5008:0.4992:0.0:0.0	.	929;715;929	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	W	929;929;909;929	ENSP00000300482:R929W;ENSP00000381023:R929W;ENSP00000300481:R909W;ENSP00000381026:R929W	ENSP00000300481:R909W	R	+	1	2	TRPM2	44650343	0.920000	0.31207	1.000000	0.80357	0.940000	0.58332	0.499000	0.22546	0.771000	0.33359	0.536000	0.68110	CGG		PASS	0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		26	121	26	121	---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47531447	47531448	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr21:47531447_47531448GG>CT	ENST00000300527.4	+	2	161_162	c.57_58GG>CT	c.(55-60)caGGcc>caCTcc	p.19_20QA>HS	COL6A2_ENST00000357838.4_Missense_Mutation_p.19_20QA>HS|COL6A2_ENST00000310645.5_Missense_Mutation_p.19_20QA>HS|COL6A2_ENST00000397763.1_Missense_Mutation_p.19_20QA>HS|COL6A2_ENST00000409416.1_Missense_Mutation_p.19_20QA>HS	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	19					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.Q19_A20>HS(3)|p.Q19H(3)|p.A20S(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCCATCCAGGCCCAGCAGCA	0.673																																						uc002zia.1																			9	Substitution - Missense(6)|Complex - compound substitution(3)		lung(9)	central_nervous_system(7)|ovary(1)	8						c.(55-57)CAG>CAC|c.(58-60)GCC>TCC		alpha 2 type VI collagen isoform 2C2 precursor																																				SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47531447G>C|g.chr21:47531448G>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	Exception_encountered	21.37:g.47531447_47531448delinsCT	ENSP00000300527:p.Q19_A20delinsHS					COL6A2_uc002zhy.1_Missense_Mutation_p.Q19H|COL6A2_uc002zhz.1_Missense_Mutation_p.Q19H|COL6A2_uc002zib.1_Intron|COL6A2_uc002zhy.1_Missense_Mutation_p.A20S|COL6A2_uc002zhz.1_Missense_Mutation_p.A20S|COL6A2_uc002zib.1_Intron	p.Q19H|p.A20S	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	2	139|140	+	Breast(49;0.245)		19|20					Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.57G>C|c.58G>T	CCDS13728.1																																																																																				PASS	0.673	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			6|7	29	6	29	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072241	17072241	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:17072241G>C	ENST00000359963.3	-	1	1459	c.1200C>G	c.(1198-1200)ttC>ttG	p.F400L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	400					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.F400L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GACATAGCTGGAAATAGGCAT	0.557																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1198-1200)TTC>TTG		T-complex protein 1							62.0	62.0	62.0					22																	17072241		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072241G>C	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1200C>G	22.37:g.17072241G>C	ENSP00000353048:p.Phe400Leu						p.F400L	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1460	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	400					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1200C>G	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	9.054	0.992838	0.18966	.	.	ENSG00000198445	ENST00000359963	T	0.77750	-1.12	1.98	0.711	0.18162	.	0.954522	0.08561	U	0.927521	T	0.67505	0.2900	L	0.44542	1.39	0.24184	N	0.995574	B	0.15141	0.012	B	0.14578	0.011	T	0.59773	-0.7391	10	0.66056	D	0.02	-2.4541	4.9701	0.14111	0.0:0.0:0.6458:0.3542	.	400	Q96SF2	TCPQM_HUMAN	L	400	ENSP00000353048:F400L	ENSP00000353048:F400L	F	-	3	2	CCT8L2	15452241	0.071000	0.21146	0.987000	0.45799	0.522000	0.34438	0.413000	0.21148	1.115000	0.41800	0.379000	0.24179	TTC		PASS	0.557	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			8	54	8	54	---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22322090	22322090	+	Splice_Site	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:22322090T>C	ENST00000398793.2	-	8	1173		c.e8-2		TOP3B_ENST00000357179.5_Splice_Site|TOP3B_ENST00000413067.2_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.?(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGTGTTAACCTGCAGGAAAAA	0.483																																						uc002zvs.2																			2	Unknown(2)		lung(2)	kidney(1)	1						c.e8-1		topoisomerase (DNA) III beta							100.0	90.0	93.0					22																	22322090		2203	4300	6503	SO:0001630	splice_region_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322090T>C	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.739-2A>G	22.37:g.22322090T>C						TOP3B_uc010gtm.1_Splice_Site|TOP3B_uc002zvr.2_Splice_Site|TOP3B_uc010gtl.2_Splice_Site_p.V247_splice|TOP3B_uc002zvt.3_Splice_Site_p.V247_splice	p.V247_splice	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	8	1174	-	Colorectal(54;0.105)							A0M8Q3|Q9BUP5	Splice_Site	SNP	ENST00000398793.2	37	c.739_splice	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.875775	0.72180	.	.	ENSG00000100038	ENST00000357179;ENST00000457270;ENST00000398793	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3402	0.66619	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP3B	20652090	1.000000	0.71417	0.931000	0.37212	0.883000	0.51084	7.582000	0.82546	1.974000	0.57490	0.533000	0.62120	.		PASS	0.483	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935	Intron	9	35	9	35	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24836814	24836814	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:24836814G>T	ENST00000337539.7	+	3	1055	c.596G>T	c.(595-597)cGg>cTg	p.R199L	ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	199					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.R199L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GTCTATTTGCGGATCTTCCTG	0.592																																						uc002zzx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)CGG>CTG		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						170.0	163.0	166.0					22																	24836814		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24836814G>T	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.596G>T	22.37:g.24836814G>T	ENSP00000336630:p.Arg199Leu					ADORA2A_uc002zzy.3_Missense_Mutation_p.R199L|ADORA2A_uc011ajs.1_Missense_Mutation_p.R60L|ADORA2A_uc010gup.2_Missense_Mutation_p.R199L|ADORA2A_uc010guq.2_Missense_Mutation_p.R199L|ADORA2A_uc003aab.2_Missense_Mutation_p.R199L|ADORA2A_uc003aac.2_Missense_Mutation_p.R60L|C22orf45_uc003aad.1_Intron	p.R199L	NM_000675	NP_000666	P29274	AA2AR_HUMAN			5	1359	+	Colorectal(2;0.196)		199			Cytoplasmic.		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.596G>T	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998495	0.35226	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.35421	1.31;1.31	4.98	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.059573	0.64402	D	0.000003	T	0.28067	0.0692	L	0.58428	1.81	0.49798	D	0.999823	P	0.45768	0.866	B	0.34093	0.175	T	0.19745	-1.0296	10	0.72032	D	0.01	-37.8269	8.4635	0.32942	0.1678:0.0:0.8322:0.0	.	199	P29274	AA2AR_HUMAN	L	199	ENSP00000414802:R199L;ENSP00000336630:R199L	ENSP00000336630:R199L	R	+	2	0	ADORA2A	23166814	0.815000	0.29118	0.802000	0.32245	0.742000	0.42306	3.073000	0.50057	2.303000	0.77524	0.462000	0.41574	CGG		PASS	0.592	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		44	137	44	137	---	---	---	---
HORMAD2	150280	broad.mit.edu	37	22	30572094	30572094	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:30572094T>C	ENST00000336726.6	+	11	1217	c.862T>C	c.(862-864)Tgc>Cgc	p.C288R	HORMAD2_ENST00000403975.1_Missense_Mutation_p.C288R	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	288					meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)		p.C288R(1)		large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			AAGTTCTGAGTGCTCCAGGAA	0.383																																						uc003agy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)TGC>CGC		HORMA domain containing 2							87.0	87.0	87.0					22																	30572094		1872	4122	5994	SO:0001583	missense	150280				meiosis|mitosis	chromosome|nucleus		g.chr22:30572094T>C	AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.862T>C	22.37:g.30572094T>C	ENSP00000336984:p.Cys288Arg						p.C288R	NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Epithelial(10;0.125)		11	927	+			288					B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	37	c.862T>C	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	T	6.965	0.547991	0.13312	.	.	ENSG00000176635	ENST00000336726;ENST00000403975;ENST00000481990	T;T	0.27720	1.65;1.65	5.86	-0.667	0.11395	.	1.004860	0.07995	N	0.987865	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.13470	T	0.59	1.5291	1.1539	0.01792	0.3035:0.296:0.0902:0.3103	.	288	Q8N7B1	HORM2_HUMAN	R	288;288;28	ENSP00000336984:C288R;ENSP00000385055:C288R	ENSP00000336984:C288R	C	+	1	0	HORMAD2	28902094	0.000000	0.05858	0.019000	0.16419	0.921000	0.55340	0.172000	0.16704	0.098000	0.17522	-0.347000	0.07816	TGC		PASS	0.383	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	NM_152510		8	21	8	21	---	---	---	---
SLC35E4	339665	broad.mit.edu	37	22	31042935	31042935	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:31042935C>G	ENST00000343605.4	+	2	1769	c.970C>G	c.(970-972)Ctt>Gtt	p.L324V	SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	324						integral component of membrane (GO:0016021)		p.L324V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						AGGAATGTTCCTTTACCACAA	0.627																																						uc003ais.1																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)CTT>GTT		solute carrier family 35, member E4							80.0	67.0	71.0					22																	31042935		2203	4300	6503	SO:0001583	missense	339665					integral to membrane		g.chr22:31042935C>G		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.970C>G	22.37:g.31042935C>G	ENSP00000339626:p.Leu324Val					SLC35E4_uc003ait.2_Intron	p.L324V	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN			2	1615	+			324			Helical; (Potential).		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.970C>G	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667928	0.47677	.	.	ENSG00000100036	ENST00000343605	T	0.68624	-0.34	4.35	3.23	0.37069	Domain of unknown function DUF250 (1);	0.189513	0.44902	D	0.000410	T	0.63390	0.2507	M	0.73962	2.25	0.80722	D	1	P	0.39216	0.664	B	0.37888	0.26	T	0.68519	-0.5387	10	0.54805	T	0.06	-20.7882	9.4762	0.38873	0.3819:0.6181:0.0:0.0	.	324	Q6ICL7	S35E4_HUMAN	V	324	ENSP00000339626:L324V	ENSP00000339626:L324V	L	+	1	0	SLC35E4	29372935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.593000	0.46180	2.364000	0.80123	0.561000	0.74099	CTT		PASS	0.627	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		15	46	15	46	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38165342	38165342	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:38165342G>T	ENST00000406386.3	+	21	7064	c.6809G>T	c.(6808-6810)gGc>gTc	p.G2270V	TRIOBP_ENST00000403663.2_Missense_Mutation_p.G557V	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2270					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.G2270V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATGGGCAATGGCTGCGGGCGC	0.667																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(6808-6810)GGC>GTC		TRIO and F-actin binding protein isoform 6							15.0	18.0	17.0					22																	38165342		1986	4162	6148	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165342G>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6809G>T	22.37:g.38165342G>T	ENSP00000384312:p.Gly2270Val					TRIOBP_uc003atu.2_Missense_Mutation_p.G2098V|TRIOBP_uc003atw.2_Missense_Mutation_p.G557V|TRIOBP_uc003atx.1_Missense_Mutation_p.G153V|TRIOBP_uc010gxh.2_Missense_Mutation_p.G153V	p.G2270V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			21	7080	+	Melanoma(58;0.0574)		2270					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6809G>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891170	0.52014	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.19806	2.12	4.96	4.96	0.65561	.	.	.	.	.	T	0.29223	0.0727	L	0.33485	1.01	0.27484	N	0.952485	D;D;P;D	0.53745	0.962;0.959;0.928;0.961	P;P;P;P	0.53760	0.65;0.734;0.734;0.617	T	0.10847	-1.0612	9	0.25106	T	0.35	.	18.2065	0.89857	0.0:0.0:1.0:0.0	.	2172;259;557;2270	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	V	2270;557	ENSP00000384312:G2270V	ENSP00000386026:G557V	G	+	2	0	TRIOBP	36495288	0.950000	0.32346	0.962000	0.40283	0.448000	0.32197	3.627000	0.54252	2.320000	0.78422	0.462000	0.41574	GGC		PASS	0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	11	5	11	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40657837	40657837	+	Splice_Site	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:40657837G>A	ENST00000454349.2	+	4	328	c.117G>A	c.(115-117)gtG>gtA	p.V39V	TNRC6B_ENST00000301923.9_Splice_Site_p.V75V|TNRC6B_ENST00000335727.9_Splice_Site_p.V39V|TNRC6B_ENST00000402203.1_Splice_Site_p.V75V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	39	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V53V(1)|p.V75V(1)		breast(1)	1						CTCTTTTAGTGCCCGAAGTGA	0.403																																						uc011aor.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(115-117)GTG>GTA		trinucleotide repeat containing 6B isoform 1							28.0	30.0	30.0					22																	40657837		1846	4039	5885	SO:0001630	splice_region_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40657837G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.116-1G>A	22.37:g.40657837G>A						TNRC6B_uc003aym.2_Silent_p.V75V|TNRC6B_uc003ayn.3_Silent_p.V39V|TNRC6B_uc003ayo.2_5'Flank	p.V39V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			4	328	+			39			Potential.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.117G>A	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590247	0.46214	.	.	ENSG00000100354	ENST00000400140	.	.	.	5.81	5.81	0.92471	.	1.743430	0.02974	N	0.144733	T	0.80132	0.4567	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65701	-0.6104	6	0.62326	D	0.03	.	20.0858	0.97800	0.0:0.0:1.0:0.0	.	.	.	.	I	39	.	ENSP00000383006:M39I	M	+	3	0	TNRC6B	38987783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.692000	0.61746	2.753000	0.94483	0.650000	0.86243	ATG		PASS	0.403	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			Silent	7	35	7	35	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50728004	50728004	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr22:50728004G>A	ENST00000449103.1	-	3	1150	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A337V			O15031	PLXB2_HUMAN	plexin B2	337	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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.A380V(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)		GATGTCACGGGCCTCCCGGGT	0.677																																						uc003bkv.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1009-1011)GCC>GTC		plexin B2 precursor							31.0	40.0	37.0					22																	50728004		1993	4155	6148	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728004G>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.1010C>T	22.37:g.50728004G>A	ENSP00000409171:p.Ala337Val						p.A337V	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1116	-		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)	337			Extracellular (Potential).|Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1010C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	7.010	0.556527	0.13436	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.08984	3.03;3.03;3.03	4.75	0.0195	0.14121	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.730150	0.12249	N	0.485769	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42120	-0.9470	10	0.27785	T	0.31	.	6.4952	0.22138	0.2555:0.1879:0.5566:0.0	.	337	O15031	PLXB2_HUMAN	V	337	ENSP00000409171:A337V;ENSP00000352288:A337V;ENSP00000392620:A337V	ENSP00000352288:A337V	A	-	2	0	PLXNB2	49070131	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.296000	0.08287	0.238000	0.21222	-0.254000	0.11334	GCC		PASS	0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		12	23	12	23	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3242718	3242718	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:3242718G>C	ENST00000217939.6	-	5	1162	c.1008C>G	c.(1006-1008)atC>atG	p.I336M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	336						extracellular vesicular exosome (GO:0070062)		p.I336M(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGGTTTCTTGATGTCACAGA	0.463																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(1006-1008)ATC>ATG		adlican precursor							140.0	100.0	114.0					X																	3242718		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242718G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1008C>G	X.37:g.3242718G>C	ENSP00000217939:p.Ile336Met						p.I336M	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1165	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	336					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1008C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	5.923	0.354406	0.11239	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.74632	-0.86	3.41	3.41	0.39046	.	0.000000	0.38959	U	0.001502	T	0.80803	0.4693	M	0.65975	2.015	0.09310	N	1	D	0.69078	0.997	P	0.62813	0.907	T	0.70956	-0.4731	10	0.72032	D	0.01	.	8.813	0.34978	0.111:0.0:0.889:0.0	.	336	Q9NR99	MXRA5_HUMAN	M	336	ENSP00000217939:I336M	ENSP00000217939:I336M	I	-	3	3	MXRA5	3252718	0.894000	0.30519	0.014000	0.15608	0.019000	0.09904	0.597000	0.24059	1.331000	0.45412	0.425000	0.28330	ATC		PASS	0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	38	9	38	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9864571	9864571	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:9864571G>A	ENST00000380913.3	+	4	2713	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	875					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.E875K(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CACCTTTGCAGAGTATCAGGC	0.637																																						uc004csu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2623-2625)GAG>AAG		apical protein of Xenopus-like							22.0	21.0	21.0					X																	9864571		2202	4298	6500	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864571G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2623G>A	X.37:g.9864571G>A	ENSP00000370299:p.Glu875Lys						p.E875K	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	2713	+		Hepatocellular(5;0.000888)	875					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.2623G>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475717	0.96291	.	.	ENSG00000146950	ENST00000380913	T	0.28454	1.61	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59495	-0.7444	10	0.62326	D	0.03	-37.8837	17.5968	0.88014	0.0:0.0:1.0:0.0	.	875	Q13796	SHRM2_HUMAN	K	875	ENSP00000370299:E875K	ENSP00000370299:E875K	E	+	1	0	SHROOM2	9824571	1.000000	0.71417	0.980000	0.43619	0.910000	0.53928	7.096000	0.76960	2.082000	0.62665	0.600000	0.82982	GAG		PASS	0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		5	15	5	15	---	---	---	---
MID1	4281	broad.mit.edu	37	X	10450578	10450578	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:10450578A>T	ENST00000317552.4	-	5	1355	c.955T>A	c.(955-957)Tct>Act	p.S319T	MID1_ENST00000380787.1_Missense_Mutation_p.S319T|MID1_ENST00000380780.1_Missense_Mutation_p.S319T|MID1_ENST00000380782.2_Missense_Mutation_p.S319T|MID1_ENST00000380779.1_Missense_Mutation_p.S319T|MID1_ENST00000380785.1_Missense_Mutation_p.S319T|MID1_ENST00000453318.2_Missense_Mutation_p.S319T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	319					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S319T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCTTCAGAGAGTGTTCCGCT	0.522																																						uc004cte.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(955-957)TCT>ACT		midline 1							156.0	128.0	138.0					X																	10450578		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10450578A>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.955T>A	X.37:g.10450578A>T	ENSP00000312678:p.Ser319Thr					MID1_uc004ctd.3_Missense_Mutation_p.S30T|MID1_uc004ctg.3_Missense_Mutation_p.S319T|MID1_uc004cth.3_Missense_Mutation_p.S281T|MID1_uc004ctk.3_Missense_Mutation_p.S319T|MID1_uc004cti.3_Missense_Mutation_p.S319T|MID1_uc004ctj.3_Missense_Mutation_p.S319T|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.S370T|MID1_uc004ctn.1_Missense_Mutation_p.S319T|MID1_uc004cto.1_Missense_Mutation_p.S281T|MID1_uc010ndw.1_Missense_Mutation_p.S30T|MID1_uc004cts.1_Missense_Mutation_p.S86T|MID1_uc004ctt.2_Missense_Mutation_p.S370T|MID1_uc004ctu.2_Missense_Mutation_p.S319T|MID1_uc004ctv.2_Missense_Mutation_p.S332T|MID1_uc004ctw.2_Missense_Mutation_p.S281T|MID1_uc010ndy.1_Missense_Mutation_p.S283T|MID1_uc004ctc.3_Missense_Mutation_p.S86T|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Missense_Mutation_p.S86T|MID1_uc004ctr.1_Missense_Mutation_p.S86T|MID1_uc010ndu.1_Missense_Mutation_p.S86T|MID1_uc010ndv.1_Missense_Mutation_p.S30T|MID1_uc010ndx.1_RNA	p.S319T	NM_033290	NP_150632	O15344	TRI18_HUMAN			5	1146	-			319					B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.955T>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.025805	0.35701	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;1.12;1.12	5.71	4.5	0.54988	B-box, C-terminal (1);	0.124035	0.56097	D	0.000026	T	0.37046	0.0989	L	0.34521	1.04	0.40305	D	0.97865	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.11567	-1.0582	10	0.44086	T	0.13	.	11.8992	0.52673	0.8561:0.1439:0.0:0.0	.	319;319;319	O15344-2;A8K5A0;O15344	.;.;TRI18_HUMAN	T	319;319;319;319;319;319;319;269;319	ENSP00000414521:S319T;ENSP00000312678:S319T;ENSP00000370162:S319T;ENSP00000370156:S319T;ENSP00000370164:S319T;ENSP00000370157:S319T;ENSP00000370159:S319T;ENSP00000391154:S319T	ENSP00000312678:S319T	S	-	1	0	MID1	10410578	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.114000	0.57858	0.749000	0.32854	0.486000	0.48141	TCT		PASS	0.522	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			19	60	19	60	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11162211	11162211	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:11162211C>A	ENST00000337414.4	-	11	2937	c.2065G>T	c.(2065-2067)Gcc>Tcc	p.A689S	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A689S|ARHGAP6_ENST00000413512.3_3'UTR|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A486S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A514S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A486S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	689					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.A689S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCCCCGGGGCCGCGTCCTCT	0.582											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cup.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(2065-2067)GCC>TCC		Rho GTPase activating protein 6 isoform 1							65.0	66.0	65.0					X																	11162211		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11162211C>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2065G>T	X.37:g.11162211C>A	ENSP00000338967:p.Ala689Ser		OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	670	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A689S|ARHGAP6_uc004cum.1_Missense_Mutation_p.A486S|ARHGAP6_uc004cun.1_Missense_Mutation_p.A509S|ARHGAP6_uc010neb.1_Missense_Mutation_p.A511S|ARHGAP6_uc011mif.1_3'UTR	p.A689S	NM_013427	NP_038286	O43182	RHG06_HUMAN			11	2938	-			689					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.2065G>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	9.601	1.128799	0.21041	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718	T;T;T;T;T;T	0.22945	2.01;2.05;2.05;2.05;1.93;1.97	5.51	3.63	0.41609	.	0.556195	0.15969	N	0.235844	T	0.21267	0.0512	L	0.60455	1.87	0.22354	N	0.99917	B;B;B;B	0.19706	0.002;0.007;0.038;0.038	B;B;B;B	0.15052	0.003;0.008;0.012;0.012	T	0.30650	-0.9971	10	0.10111	T	0.7	.	8.0028	0.30308	0.2659:0.6561:0.0:0.078	.	486;689;689;689	O43182-5;O43182-2;O43182;A8KAL3	.;.;RHG06_HUMAN;.	S	514;486;486;689;525;689	ENSP00000438135:A514S;ENSP00000370112:A486S;ENSP00000302312:A486S;ENSP00000338967:A689S;ENSP00000370093:A525S;ENSP00000370094:A689S	ENSP00000302312:A486S	A	-	1	0	ARHGAP6	11072132	0.001000	0.12720	0.035000	0.18076	0.091000	0.18340	1.297000	0.33400	1.105000	0.41606	0.506000	0.49869	GCC		PASS	0.582	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		22	87	22	87	---	---	---	---
MSL3	10943	broad.mit.edu	37	X	11783734	11783734	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:11783734C>T	ENST00000312196.4	+	9	1162	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	MSL3_ENST00000398527.2_Missense_Mutation_p.R341C|MSL3_ENST00000361672.2_Missense_Mutation_p.R204C|MSL3_ENST00000337339.2_Missense_Mutation_p.R353C|MSL3_ENST00000380693.3_Missense_Mutation_p.R187C	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	353	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R353C(2)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCGGTCCACGCGCCACAGTGC	0.622																																						uc004cuw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1057-1059)CGC>TGC		male-specific lethal 3-like 1 isoform a							101.0	99.0	100.0					X																	11783734		2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783734C>T	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1057C>T	X.37:g.11783734C>T	ENSP00000312244:p.Arg353Cys					MSL3_uc004cuv.1_Missense_Mutation_p.R353C|MSL3_uc004cux.2_Missense_Mutation_p.R294C|MSL3_uc011mig.1_Missense_Mutation_p.R204C|MSL3_uc011mih.1_Missense_Mutation_p.R341C|MSL3_uc004cuy.2_Missense_Mutation_p.R187C	p.R353C	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			9	1162	+			353					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1057C>T	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792832	0.31685	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;T;T;T	0.18810	2.89;2.7;2.52;2.67;2.53;2.19	4.32	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	M	0.79475	2.455	0.41792	D	0.989875	B;B;B;B;D	0.89917	0.169;0.004;0.059;0.169;1.0	B;B;B;B;D	0.81914	0.032;0.003;0.007;0.032;0.995	T	0.44050	-0.9353	10	0.66056	D	0.02	.	11.3733	0.49713	0.3264:0.6736:0.0:0.0	.	341;204;294;353;353	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	C	353;353;204;341;187;187	ENSP00000312244:R353C;ENSP00000338078:R353C;ENSP00000354562:R204C;ENSP00000381538:R341C;ENSP00000370069:R187C;ENSP00000370068:R187C	ENSP00000312244:R353C	R	+	1	0	MSL3	11693655	0.944000	0.32072	0.388000	0.26195	0.781000	0.44180	1.991000	0.40727	0.733000	0.32492	0.600000	0.82982	CGC		PASS	0.622	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		19	141	19	141	---	---	---	---
RAB9A	9367	broad.mit.edu	37	X	13727078	13727078	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:13727078C>T	ENST00000464506.1	+	3	492	c.213C>T	c.(211-213)agC>agT	p.S71S	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	71					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S71S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GATTCCGAAGCCTGAGGACAC	0.413																																						uc004cvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(211-213)AGC>AGT		RAB9A, member RAS oncogene family							153.0	148.0	150.0					X																	13727078		2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727078C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.213C>T	X.37:g.13727078C>T						RAB9A_uc010neh.2_Silent_p.S71S	p.S71S	NM_004251	NP_004242	P51151	RAB9A_HUMAN			3	395	+			71					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.213C>T	CCDS14156.1																																																																																				PASS	0.413	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		46	161	46	161	---	---	---	---
FIGF	2277	broad.mit.edu	37	X	15365296	15365296	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:15365296C>G	ENST00000297904.3	-	6	1357	c.928G>C	c.(928-930)Gac>Cac	p.D310H	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	310	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.D310H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CTGCAGGTGTCTGGGTGAAAT	0.423																																						uc004cwt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(928-930)GAC>CAC		vascular endothelial growth factor D							155.0	145.0	148.0					X																	15365296		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15365296C>G	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.928G>C	X.37:g.15365296C>G	ENSP00000297904:p.Asp310His						p.D310H	NM_004469	NP_004460	O43915	VEGFD_HUMAN			6	1437	-	Hepatocellular(33;0.183)		310			4.|4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.928G>C	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442207	0.63067	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.16	4.28	0.50868	.	0.430557	0.24678	N	0.036493	T	0.58906	0.2155	L	0.54323	1.7	0.37901	D	0.931035	P	0.49961	0.93	P	0.47786	0.557	T	0.67998	-0.5525	9	0.66056	D	0.02	-25.2962	12.7334	0.57210	0.0:0.9131:0.0:0.0869	.	310	O43915	VEGFD_HUMAN	H	310	.	ENSP00000297904:D310H	D	-	1	0	FIGF	15275217	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	3.715000	0.54897	2.277000	0.76020	0.600000	0.82982	GAC		PASS	0.423	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		31	97	31	97	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17750265	17750266	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:17750265_17750266CC>AA	ENST00000380060.3	+	8	4912_4913	c.4574_4575CC>AA	c.(4573-4575)cCC>cAA	p.P1525Q	NHS_ENST00000398097.3_Missense_Mutation_p.P1369Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1546					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1525Q(1)|p.P1525P(1)|p.P1369Q(1)|p.P1369P(1)|p.P1525H(1)|p.P1369H(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCATACTGCCCAAACCTCCTG	0.545																																						uc004cxx.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4573-4575)CCC>CAC|c.(4573-4575)CCC>CCA		Nance-Horan syndrome protein isoform 1																																				SO:0001583	missense	4810					nucleus		g.chrX:17750265C>A|g.chrX:17750266C>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	Exception_encountered	X.37:g.17750265_17750266delinsAA	ENSP00000369400:p.Pro1525Gln					NHS_uc011mix.1_Missense_Mutation_p.P1546H|NHS_uc004cxy.2_Missense_Mutation_p.P1369H|NHS_uc004cxz.2_Missense_Mutation_p.P1348H|NHS_uc004cya.2_Missense_Mutation_p.P1248H|NHS_uc011mix.1_Silent_p.P1546P|NHS_uc004cxy.2_Silent_p.P1369P|NHS_uc004cxz.2_Silent_p.P1348P|NHS_uc004cya.2_Silent_p.P1248P	p.P1525H|p.P1525P	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			8	4912|4913	+	Hepatocellular(33;0.183)		1525					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation|Silent	SNP	ENST00000380060.3	37	c.4574C>A|c.4575C>A	CCDS14181.1																																																																																				PASS	0.545	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		10	64|65	10	64	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18767943	18767943	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:18767943A>G	ENST00000361511.4	+	7	763	c.269A>G	c.(268-270)gAc>gGc	p.D90G	PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Missense_Mutation_p.D25G|PPEF1_ENST00000349874.5_Missense_Mutation_p.D90G|PPEF1_ENST00000543630.1_Missense_Mutation_p.D90G|PPEF1_ENST00000359763.6_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	90					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.D90G(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGCGAACAGGACATGAGGGAT	0.443																																						uc004cyq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)GAC>GGC		protein phosphatase with EF hand calcium-binding							145.0	120.0	129.0					X																	18767943		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18767943A>G	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.269A>G	X.37:g.18767943A>G	ENSP00000354871:p.Asp90Gly					PPEF1_uc004cyp.2_Missense_Mutation_p.D90G|PPEF1_uc004cyr.2_Missense_Mutation_p.D90G|PPEF1_uc004cys.2_Missense_Mutation_p.D90G|PPEF1_uc011mja.1_Missense_Mutation_p.D25G|PPEF1_uc011mjb.1_Missense_Mutation_p.D34G	p.D90G	NM_006240	NP_006231	O14829	PPE1_HUMAN			7	750	+	Hepatocellular(33;0.183)		90					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.269A>G	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.321186	0.23994	.	.	ENSG00000086717	ENST00000361511;ENST00000349874;ENST00000543630;ENST00000544635	T;T;T;T	0.23348	3.24;3.09;1.91;3.2	4.29	1.77	0.24775	.	2.831820	0.01079	N	0.004941	T	0.26810	0.0656	L	0.50333	1.59	0.09310	N	1	P;P;P	0.41848	0.545;0.673;0.763	B;B;B	0.40256	0.15;0.324;0.121	T	0.12477	-1.0546	10	0.39692	T	0.17	13.9835	5.1342	0.14926	0.7191:0.0:0.2809:0.0	.	90;90;90	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	G	90;90;90;25	ENSP00000354871:D90G;ENSP00000341892:D90G;ENSP00000437785:D90G;ENSP00000441289:D25G	ENSP00000341892:D90G	D	+	2	0	PPEF1	18677864	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	2.434000	0.44802	0.142000	0.18901	-0.438000	0.05819	GAC		PASS	0.443	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		29	90	29	90	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19025395	19025395	+	Silent	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:19025395T>C	ENST00000379869.3	-	20	1810	c.1647A>G	c.(1645-1647)acA>acG	p.T549T	GPR64_ENST00000340581.3_Intron|GPR64_ENST00000379873.2_Silent_p.T549T|GPR64_ENST00000379878.3_Silent_p.T533T|GPR64_ENST00000360279.4_Silent_p.T527T|GPR64_ENST00000379876.1_Silent_p.T525T|GPR64_ENST00000356606.4_Silent_p.T535T|GPR64_ENST00000354791.3_Silent_p.T533T|GPR64_ENST00000357544.3_Silent_p.T519T|GPR64_ENST00000357991.3_Silent_p.T546T	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	549					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T546T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCACGTTTCTTGTCAAGTTCC	0.502																																						uc004cyx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1645-1647)ACA>ACG		G protein-coupled receptor 64 isoform 1							275.0	184.0	215.0					X																	19025395		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19025395T>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1647A>G	X.37:g.19025395T>C						GPR64_uc004cyy.2_Silent_p.T546T|GPR64_uc004cyz.2_Silent_p.T535T|GPR64_uc004czb.2_Silent_p.T549T|GPR64_uc004czc.2_Silent_p.T533T|GPR64_uc004czd.2_Silent_p.T525T|GPR64_uc004cze.2_Silent_p.T519T|GPR64_uc004czf.2_Silent_p.T511T|GPR64_uc004cza.2_Silent_p.T527T|GPR64_uc004cyw.2_Silent_p.T533T|GPR64_uc010nfj.2_Intron	p.T549T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			20	1811	-	Hepatocellular(33;0.183)		549			Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.1647A>G	CCDS43923.1																																																																																				PASS	0.502	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			14	43	14	43	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018668	23018668	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:23018668A>G	ENST00000327968.5	+	1	582	c.494A>G	c.(493-495)aAg>aGg	p.K165R	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	165						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.K165R(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GAGTGCGAAAAGAGAAAATGG	0.428																																						uc004daj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(493-495)AAG>AGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							112.0	107.0	109.0					X																	23018668		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018668A>G	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.494A>G	X.37:g.23018668A>G	ENSP00000368667:p.Lys165Arg						p.K165R	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	582	+			165					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.494A>G	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	A	9.949	1.219585	0.22373	.	.	ENSG00000184735	ENST00000327968	T	0.21932	1.98	4.83	0.643	0.17770	.	0.832653	0.10389	N	0.680654	T	0.20577	0.0495	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24083	-1.0170	10	0.44086	T	0.13	-12.1639	9.8471	0.41034	0.4714:0.5286:0.0:0.0	.	165	Q86TM3	DDX53_HUMAN	R	165	ENSP00000368667:K165R	ENSP00000368667:K165R	K	+	2	0	DDX53	22928589	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.025000	0.13577	-0.157000	0.11059	0.486000	0.48141	AAG		PASS	0.428	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		21	73	21	73	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32305785	32305785	+	Missense_Mutation	SNP	G	G	A	rs140791274	byFrequency	TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:32305785G>A	ENST00000357033.4	-	43	6357	c.6151C>T	c.(6151-6153)Cgg>Tgg	p.R2051W	DMD_ENST00000378677.2_Missense_Mutation_p.R2047W	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2051					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R2047W(1)|p.R2046W(1)|p.R2051W(1)|p.R710W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTCAATCCGACCTGAGCTT	0.348																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6151-6153)CGG>TGG		dystrophin Dp427m isoform		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3833		0,0,1631,571	82.0	63.0	70.0		6127,6151,5782,6139,5782,2128,2119	4.4	1.0	X	dbSNP_134	70	2,6726		1,0,2427,1872	no	missense,missense,missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3	101,101,101,101,101,101,101	1,0,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2043/3678,2051/3686,1928/3563,2047/3682,1928/3563,710/2345,707/2342	32305785	2,10559	2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305785G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6151C>T	X.37:g.32305785G>A	ENSP00000354923:p.Arg2051Trp					DMD_uc004dcw.2_Missense_Mutation_p.R707W|DMD_uc004dcx.2_Missense_Mutation_p.R710W|DMD_uc004dcz.2_Missense_Mutation_p.R1928W|DMD_uc004dcy.1_Missense_Mutation_p.R2047W|DMD_uc004ddb.1_Missense_Mutation_p.R2043W|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	p.R2051W	NM_004006	NP_003997	P11532	DMD_HUMAN			43	6395	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2051			Spectrin 14.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6151C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842816	0.51057	0.0	2.97E-4	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.55588	0.51;0.51	4.36	4.36	0.52297	.	0.276929	0.19581	U	0.110869	T	0.52869	0.1761	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.65815	0.987;0.992;0.99;0.995;0.995	P;P;P;P;P	0.54174	0.556;0.744;0.684;0.571;0.469	T	0.59878	-0.7371	10	0.66056	D	0.02	.	16.4477	0.83947	0.0:0.0:1.0:0.0	.	2043;2051;2047;710;707	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	W	2043;710;707;2047;2051;2051;1928	ENSP00000367948:R2047W;ENSP00000354923:R2051W	ENSP00000354923:R2051W	R	-	1	2	DMD	32215706	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	6.769000	0.74985	2.140000	0.66376	0.600000	0.82982	CGG		PASS	0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		11	35	11	35	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34150174	34150174	+	Silent	SNP	G	G	A	rs373597275		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAAAAACTCGTCACGGCGAC	0.532																																						uc004ddg.2																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|central_nervous_system(1)	5						c.(220-222)GAC>GAT		hypothetical protein LOC158724							91.0	86.0	88.0					X																	34150174		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150174G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.222C>T	X.37:g.34150174G>A							p.D74D	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	255	-			74					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.222C>T	CCDS43926.1																																																																																				PASS	0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		21	52	21	52	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36083860	36083860	+	Splice_Site	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:36083860G>T	ENST00000313548.4	+	2	229	c.43G>T	c.(43-45)Gat>Tat	p.D15Y		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	15						integral component of membrane (GO:0016021)		p.D15Y(1)									TTTAAAGAATGGTAAGCTATG	0.308																																						uc004ddk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(43-45)GAT>TAT		hypothetical protein LOC286464							83.0	73.0	76.0					X																	36083860		2201	4297	6498	SO:0001630	splice_region_variant	286464					integral to membrane		g.chrX:36083860G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.43+1G>T	X.37:g.36083860G>T							p.D15Y	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			2	229	+			15						Missense_Mutation	SNP	ENST00000313548.4	37	c.43G>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965791	0.53507	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	T	0.50326	0.1609	N	0.19112	0.55	0.38126	D	0.937995	D	0.69078	0.997	P	0.55545	0.778	T	0.52801	-0.8527	7	.	.	.	-4.1186	14.5859	0.68322	0.0:0.0:1.0:0.0	.	15	Q8N9S7	CX059_HUMAN	Y	15	.	.	D	+	1	0	CXorf59	35993781	1.000000	0.71417	0.943000	0.38184	0.255000	0.26057	3.494000	0.53273	2.113000	0.64589	0.600000	0.82982	GAT		PASS	0.308	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	Missense_Mutation	6	27	6	27	---	---	---	---
CXorf36	79742	broad.mit.edu	37	X	45060020	45060020	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:45060020C>A	ENST00000398000.2	-	1	126	c.52G>T	c.(52-54)Gcc>Tcc	p.A18S	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.A18S|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	18						extracellular region (GO:0005576)		p.A18S(2)		endometrium(1)|large_intestine(2)|lung(4)	7						AGCAGCAGGGCCAGCCAGCCA	0.632																																						uc004dgg.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(52-54)GCC>TCC		hypothetical protein LOC79742 isoform 1							22.0	21.0	22.0					X																	45060020		2203	4296	6499	SO:0001583	missense	79742					extracellular region		g.chrX:45060020C>A	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.52G>T	X.37:g.45060020C>A	ENSP00000381086:p.Ala18Ser					CXorf36_uc004dgi.3_Missense_Mutation_p.A18S	p.A18S	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN			1	127	-			18					A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	c.52G>T	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	C	5.053	0.195424	0.09599	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.32753	1.48;1.44	5.33	-1.92	0.07618	.	1.154120	0.06330	N	0.706015	T	0.18509	0.0444	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.25328	-1.0135	10	0.21540	T	0.41	.	1.1024	0.01687	0.4474:0.1525:0.1094:0.2907	.	18;18	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	S	18	ENSP00000381086:A18S;ENSP00000367168:A18S	ENSP00000367168:A18S	A	-	1	0	CXorf36	44944964	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-0.621000	0.05559	-0.416000	0.07473	0.415000	0.27848	GCC		PASS	0.632	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		9	18	9	18	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47101575	47101575	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:47101575G>T	ENST00000218348.3	+	10	1403	c.1403G>T	c.(1402-1404)tGc>tTc	p.C468F	USP11_ENST00000377107.2_Missense_Mutation_p.C425F	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	468	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.C468F(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACGCTGGTGTGCCCCGATTGT	0.542																																						uc004dhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1402-1404)TGC>TTC		ubiquitin specific peptidase 11							110.0	82.0	92.0					X																	47101575		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101575G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1403G>T	X.37:g.47101575G>T	ENSP00000218348:p.Cys468Phe					USP11_uc004dhq.2_Missense_Mutation_p.C195F	p.C468F	NM_004651	NP_004642	P51784	UBP11_HUMAN			10	1403	+			468					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1403G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301403	0.81136	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.47869	0.83;0.83	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86347	0.1708	10	0.87932	D	0	-25.2333	17.2763	0.87116	0.0:0.0:1.0:0.0	.	195;468	B3KP28;P51784	.;UBP11_HUMAN	F	425;468	ENSP00000366311:C425F;ENSP00000218348:C468F	ENSP00000218348:C468F	C	+	2	0	USP11	46986519	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	9.810000	0.99221	2.346000	0.79739	0.600000	0.82982	TGC		PASS	0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		8	23	8	23	---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48650417	48650417	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:48650417C>A	ENST00000376670.3	+	3	498	c.387C>A	c.(385-387)agC>agA	p.S129R	GATA1_ENST00000376665.3_Missense_Mutation_p.S129R	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	129					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.S129R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GAAAAGGCAGCACCAGCTTCC	0.612			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3				Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		3	Unknown(2)|Substitution - Missense(1)	p.?(2)|p.V74_C199del(1)	haematopoietic_and_lymphoid_tissue(2)|lung(1)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(385-387)AGC>AGA		GATA binding protein 1							60.0	50.0	54.0					X																	48650417		2203	4300	6503	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650417C>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.387C>A	X.37:g.48650417C>A	ENSP00000365858:p.Ser129Arg						p.S129R	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	478	+			129					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.387C>A	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	9.896	1.205647	0.22205	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.98135	-4.74;-4.44	4.46	2.62	0.31277	.	1.163570	0.06250	N	0.691890	D	0.94407	0.8201	L	0.39245	1.2	0.34527	D	0.708837	B	0.28128	0.201	B	0.19148	0.024	D	0.90829	0.4715	10	0.46703	T	0.11	-1.5558	4.045	0.09768	0.1896:0.6022:0.0:0.2082	.	129	P15976	GATA1_HUMAN	R	129	ENSP00000365858:S129R;ENSP00000365853:S129R	ENSP00000365853:S129R	S	+	3	2	GATA1	48535361	0.961000	0.32948	0.174000	0.22961	0.951000	0.60555	0.269000	0.18589	0.674000	0.31244	0.492000	0.49549	AGC		PASS	0.612	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		6	43	6	43	---	---	---	---
CCDC120	90060	broad.mit.edu	37	X	48922153	48922153	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:48922153C>A	ENST00000376396.3	+	6	796	c.577C>A	c.(577-579)Cag>Aag	p.Q193K	CCDC120_ENST00000496529.2_Missense_Mutation_p.Q193K|CCDC120_ENST00000422185.2_Missense_Mutation_p.Q193K|CCDC120_ENST00000603986.1_Missense_Mutation_p.Q228K|CCDC120_ENST00000597275.1_Missense_Mutation_p.Q193K|CCDC120_ENST00000536628.2_Missense_Mutation_p.Q181K	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	193								p.Q193K(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GATCACCACCCAGGGAGTCTG	0.657																																						uc010nik.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(577-579)CAG>AAG		coiled-coil domain containing 120 isoform 3							26.0	23.0	24.0					X																	48922153		2200	4296	6496	SO:0001583	missense	90060						protein binding	g.chrX:48922153C>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.577C>A	X.37:g.48922153C>A	ENSP00000365577:p.Gln193Lys					CCDC120_uc011mmq.1_Missense_Mutation_p.Q181K|CCDC120_uc004dmf.2_Missense_Mutation_p.Q193K|CCDC120_uc010nil.2_Missense_Mutation_p.Q193K|CCDC120_uc011mmr.1_Missense_Mutation_p.Q193K|CCDC120_uc011mms.1_Missense_Mutation_p.Q181K	p.Q193K	NM_033626	NP_296375	Q96HB5	CC120_HUMAN			6	1084	+			193					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.577C>A	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848437	0.51164	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	3.9	3.9	0.45041	.	0.000000	0.45361	D	0.000380	T	0.40040	0.1101	N	0.22421	0.69	0.29771	N	0.834748	P;P;P;P	0.40332	0.635;0.713;0.713;0.713	B;P;P;P	0.51742	0.121;0.678;0.678;0.678	T	0.30268	-0.9984	9	0.33141	T	0.24	-4.528	11.1155	0.48258	0.0:1.0:0.0:0.0	.	181;228;181;193	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	K	193;193;181	.	ENSP00000365577:Q193K	Q	+	1	0	CCDC120	48809097	1.000000	0.71417	0.993000	0.49108	0.470000	0.32858	3.639000	0.54339	1.895000	0.54865	0.292000	0.19580	CAG		PASS	0.657	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		4	8	4	8	---	---	---	---
PRICKLE3	4007	broad.mit.edu	37	X	49032245	49032245	+	Missense_Mutation	SNP	G	G	A	rs192584914		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:49032245G>A	ENST00000376317.3	-	9	1719	c.1625C>T	c.(1624-1626)tCg>tTg	p.S542L	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.S366L|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.S461L|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.S474L	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	542							zinc ion binding (GO:0008270)	p.S542L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GCAAGATTCCGAGTCTGACCC	0.572																																						uc004dmy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1624-1626)TCG>TTG		LIM domain only 6							161.0	124.0	136.0					X																	49032245		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49032245G>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1625C>T	X.37:g.49032245G>A	ENSP00000365494:p.Ser542Leu					PRICKLE3_uc011mmv.1_Missense_Mutation_p.S474L|PRICKLE3_uc011mmw.1_Missense_Mutation_p.S461L|PRICKLE3_uc011mmx.1_Missense_Mutation_p.S504L	p.S542L	NM_006150	NP_006141	O43900	PRIC3_HUMAN			9	1651	-			542					B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1625C>T	CCDS14320.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	-	10.65	1.408593	0.25378	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	T;T;T;T	0.69685	-0.4;-0.4;-0.4;-0.42	2.9	2.9	0.33743	.	0.000000	0.29760	N	0.011274	T	0.41026	0.1141	N	0.24115	0.695	0.09310	N	1	P;P;P	0.44260	0.83;0.83;0.685	B;B;B	0.24269	0.052;0.052;0.052	T	0.48375	-0.9041	10	0.72032	D	0.01	-17.3659	8.5353	0.33360	0.0:0.0:1.0:0.0	.	504;461;542	B7Z6S4;B7Z8F2;O43900	.;.;PRIC3_HUMAN	L	542;461;474;366	ENSP00000365494:S542L;ENSP00000441385:S461L;ENSP00000446051:S474L;ENSP00000441743:S366L	ENSP00000365494:S542L	S	-	2	0	PRICKLE3	48919189	0.904000	0.30761	0.025000	0.17156	0.787000	0.44495	1.236000	0.32683	1.738000	0.51689	0.455000	0.32223	TCG		PASS	0.572	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		27	98	27	98	---	---	---	---
GPR173	54328	broad.mit.edu	37	X	53105980	53105980	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:53105980C>T	ENST00000332582.4	+	2	668	c.177C>T	c.(175-177)taC>taT	p.Y59Y		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	59					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.Y59Y(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CTCCTTACTACTTCCTGCTGG	0.597																																						uc004dru.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(175-177)TAC>TAT		G protein-coupled receptor 173							111.0	78.0	89.0					X																	53105980		2203	4300	6503	SO:0001819	synonymous_variant	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53105980C>T	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.177C>T	X.37:g.53105980C>T							p.Y59Y	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	435	+			59			Cytoplasmic (Potential).		B1B0A5	Silent	SNP	ENST00000332582.4	37	c.177C>T	CCDS14349.1																																																																																				PASS	0.597	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		11	58	11	58	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54783783	54783783	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:54783783G>T	ENST00000218436.6	-	8	2753	c.2724C>A	c.(2722-2724)atC>atA	p.I908I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	908	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I908I(1)									TGGAACTTGAGATTGTATTTG	0.562																																						uc004dtj.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2722-2724)ATC>ATA		inter-alpha (globulin) inhibitor H5-like							101.0	90.0	94.0					X																	54783783		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783783G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2724C>A	X.37:g.54783783G>T							p.I908I	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2754	-			908			Pro-rich.		A6NN03	Silent	SNP	ENST00000218436.6	37	c.2724C>A	CCDS14361.1																																																																																				PASS	0.562	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		7	48	7	48	---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57358226	57358226	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:57358226T>A	ENST00000374900.4	+	4	728	c.608T>A	c.(607-609)gTa>gAa	p.V203E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	203						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.V203E(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAGCATATTGTAGGTGGAAGT	0.353										HNSCC(52;0.14)																												uc004dvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(607-609)GTA>GAA		fatty acid amide hydrolase 2							149.0	119.0	129.0					X																	57358226		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57358226T>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.608T>A	X.37:g.57358226T>A	ENSP00000364035:p.Val203Glu	HNSCC(52;0.14)					p.V203E	NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN			4	757	+			203					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.608T>A	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108119	0.37242	.	.	ENSG00000165591	ENST00000374900	T	0.64085	-0.08	2.25	1.02	0.19986	Amidase signature domain (2);	0.189085	0.33457	U	0.004885	T	0.69780	0.3149	M	0.87617	2.895	0.30964	N	0.723282	P	0.41947	0.766	P	0.50896	0.653	T	0.68685	-0.5343	10	0.52906	T	0.07	.	5.1812	0.15161	0.0:0.1723:0.0:0.8277	.	203	Q6GMR7	FAAH2_HUMAN	E	203	ENSP00000364035:V203E	ENSP00000364035:V203E	V	+	2	0	FAAH2	57374951	0.997000	0.39634	0.960000	0.40013	0.665000	0.39181	1.291000	0.33330	-0.081000	0.12662	0.339000	0.21740	GTA		PASS	0.353	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		21	83	21	83	---	---	---	---
ZXDB	158586	broad.mit.edu	37	X	57618658	57618658	+	Silent	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:57618658C>T	ENST00000374888.1	+	1	390	c.177C>T	c.(175-177)cgC>cgT	p.R59R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R59R(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ggcggcggcgcgAGGAGGCCA	0.776																																						uc004dvd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)CGC>CGT		zinc finger, X-linked, duplicated B							2.0	2.0	2.0					X																	57618658		956	2198	3154	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618658C>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.177C>T	X.37:g.57618658C>T							p.R59R	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	390	+			59					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.177C>T	CCDS35313.1																																																																																				PASS	0.776	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	11	4	11	---	---	---	---
SPIN4	139886	broad.mit.edu	37	X	62570674	62570674	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:62570674T>G	ENST00000335144.3	-	1	544	c.25A>C	c.(25-27)Atg>Ctg	p.M9L	SPIN4_ENST00000374884.2_5'UTR|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	9					gamete generation (GO:0007276)			p.M9L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						TCTACCCCCATCGGAGGCACG	0.537																																						uc004dvf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(25-27)ATG>CTG		spindlin family, member 4							49.0	48.0	49.0					X																	62570674		2004	4161	6165	SO:0001583	missense	139886				gamete generation			g.chrX:62570674T>G	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.25A>C	X.37:g.62570674T>G	ENSP00000334163:p.Met9Leu						p.M9L	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	545	-			9					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.25A>C	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	.	5.980	0.364787	0.11296	.	.	ENSG00000186767	ENST00000335144	T	0.39056	1.1	3.9	2.73	0.32206	.	0.342930	0.20456	N	0.091995	T	0.17109	0.0411	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13388	-1.0511	10	0.33141	T	0.24	-29.3632	5.2841	0.15692	0.0:0.1305:0.0:0.8695	.	9	Q56A73	SPIN4_HUMAN	L	9	ENSP00000334163:M9L	ENSP00000334163:M9L	M	-	1	0	SPIN4	62487399	0.151000	0.22747	0.022000	0.16811	0.471000	0.32888	0.632000	0.24583	0.666000	0.31087	0.345000	0.21793	ATG		PASS	0.537	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		5	33	5	33	---	---	---	---
ASB12	142689	broad.mit.edu	37	X	63445176	63445176	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:63445176G>T	ENST00000396130.2	-	1	327	c.328C>A	c.(328-330)Ctg>Atg	p.L110M	ASB12_ENST00000362002.2_Missense_Mutation_p.L119M|MTMR8_ENST00000453546.1_Missense_Mutation_p.L494M			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	110					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.L119M(1)|p.L110M(1)|p.L494M(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ACACAGTCCAGATGGCCATGA	0.532																																						uc011mou.1																			5	Substitution - Missense(3)|Whole gene deletion(2)		lung(3)|ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1480-1482)CTG>ATG		myotubularin related protein 8							111.0	64.0	80.0					X																	63445176		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445176G>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.328C>A	X.37:g.63445176G>T	ENSP00000379435:p.Leu110Met					ASB12_uc004dvp.1_Missense_Mutation_p.L110M|ASB12_uc004dvq.1_Missense_Mutation_p.L119M|ASB12_uc004dvr.1_Missense_Mutation_p.L119M	p.L494M	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1548	-			310			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1480C>A		.	.	.	.	.	.	.	.	.	.	G	15.13	2.742099	0.49151	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.68903	-0.36;-0.36;-0.36	4.0	2.2	0.27929	Ankyrin repeat-containing domain (4);	0.162224	0.43416	D	0.000565	T	0.72724	0.3496	M	0.64170	1.965	0.19775	N	0.999957	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.961	T	0.60601	-0.7231	10	0.66056	D	0.02	-0.8114	4.6524	0.12601	0.4612:0.0:0.5388:0.0	.	494;110	B4DQL0;Q8WXK4	.;ASB12_HUMAN	M	119;110;119;494	ENSP00000355195:L119M;ENSP00000379435:L110M;ENSP00000394003:L494M	ENSP00000354626:L119M	L	-	1	2	ASB12;MTMR8	63361901	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.823000	0.39062	0.829000	0.34733	0.468000	0.43344	CTG		PASS	0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				5	17	5	17	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64737901	64737901	+	Silent	SNP	T	T	A	rs200815004		TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:64737901T>A	ENST00000374811.3	-	12	1933	c.1893A>T	c.(1891-1893)ggA>ggT	p.G631G	LAS1L_ENST00000374807.5_Silent_p.G614G|LAS1L_ENST00000374804.5_Silent_p.G572G|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	631					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G631G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CCTGCAAAGCTCCTCTTTTCT	0.517																																						uc004dwa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1891-1893)GGA>GGT		LAS1-like							90.0	83.0	85.0					X																	64737901		2203	4300	6503	SO:0001819	synonymous_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64737901T>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1893A>T	X.37:g.64737901T>A						LAS1L_uc004dwc.1_Silent_p.G614G|LAS1L_uc004dwd.1_Silent_p.G572G|LAS1L_uc004dvy.1_Silent_p.G144G|LAS1L_uc004dvz.1_Silent_p.G144G	p.G631G	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			12	1965	-			631					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	c.1893A>T	CCDS14381.1																																																																																				PASS	0.517	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		5	21	5	21	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70603821	70603821	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:70603821C>G	ENST00000373790.4	+	13	2005	c.1954C>G	c.(1954-1956)Caa>Gaa	p.Q652E	TAF1_ENST00000423759.1_Missense_Mutation_p.Q673E|TAF1_ENST00000449580.1_Missense_Mutation_p.Q652E|TAF1_ENST00000276072.3_Missense_Mutation_p.Q673E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	652	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q652E(1)|p.Q673E(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGAGAGAACAAGAGAGGCA	0.428																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(1954-1956)CAA>GAA		TBP-associated factor 1 isoform 2							207.0	171.0	183.0					X																	70603821		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603821C>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1954C>G	X.37:g.70603821C>G	ENSP00000362895:p.Gln652Glu					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.Q673E	p.Q652E	NM_138923	NP_620278	P21675	TAF1_HUMAN			13	2005	+	Renal(35;0.156)	all_lung(315;0.000321)	652					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1954C>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	18.79	3.698592	0.68386	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.08896	3.04;3.1;3.09;3.04	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.58428	1.81	0.80722	D	1	P;P	0.46621	0.881;0.856	P;P	0.56343	0.796;0.721	T	0.00088	-1.2091	10	0.34782	T	0.22	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	652;673	P21675;P21675-2	TAF1_HUMAN;.	E	652;652;673;673	ENSP00000362895:Q652E;ENSP00000389000:Q652E;ENSP00000406549:Q673E;ENSP00000276072:Q673E	ENSP00000276072:Q673E	Q	+	1	0	TAF1	70520546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.284000	0.78650	2.474000	0.83562	0.600000	0.82982	CAA		PASS	0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		20	93	20	93	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70621431	70621431	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:70621431C>G	ENST00000373790.4	+	25	3888	c.3837C>G	c.(3835-3837)tgC>tgG	p.C1279W	TAF1_ENST00000423759.1_Missense_Mutation_p.C1300W|TAF1_ENST00000449580.1_Missense_Mutation_p.C1279W|TAF1_ENST00000276072.3_Missense_Mutation_p.C1300W	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1279					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.C1300W(1)|p.C1279W(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACAAATTCTGCCCCCTCTATT	0.443																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(3835-3837)TGC>TGG		TBP-associated factor 1 isoform 2							102.0	86.0	92.0					X																	70621431		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70621431C>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3837C>G	X.37:g.70621431C>G	ENSP00000362895:p.Cys1279Trp					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.C1300W|TAF1_uc004dzv.3_Missense_Mutation_p.C453W	p.C1279W	NM_138923	NP_620278	P21675	TAF1_HUMAN			25	3888	+	Renal(35;0.156)	all_lung(315;0.000321)	1279					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3837C>G	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.10|17.10	3.302107|3.302107	0.60195|0.60195	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|D;D;D;D	.|0.89939	.|-2.59;-2.59;-2.59;-2.59	5.7|5.7	1.46|1.46	0.22682|0.22682	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93032|0.93032	0.7782|0.7782	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.91365|0.91365	0.5115|0.5115	5|10	.|0.87932	.|D	.|0	.|.	8.9445|8.9445	0.35751|0.35751	0.0:0.6501:0.0:0.3499|0.0:0.6501:0.0:0.3499	.|.	.|1279;1279;1300	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	G|W	190|1279;1279;1300;1300	.|ENSP00000362895:C1279W;ENSP00000389000:C1279W;ENSP00000406549:C1300W;ENSP00000276072:C1300W	.|ENSP00000276072:C1300W	A|C	+|+	2|3	0|2	TAF1|TAF1	70538156|70538156	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.310000|0.310000	0.19356|0.19356	0.159000|0.159000	0.19401|0.19401	0.541000|0.541000	0.68203|0.68203	GCC|TGC		PASS	0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		12	73	12	73	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73066015	73066015	+	lincRNA	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:73066015G>T	ENST00000429829.1	-	0	6573					NR_001564.2				X inactive specific transcript (non-protein coding)																		CGCATACCAGGCCAGGAAAAA	0.512																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							147.0	134.0	138.0					X																	73066015		876	1991	2867			7503							g.chrX:73066015G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066015G>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.6574C>A																																																																																					PASS	0.512	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		15	86	15	86	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74641769	74641769	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:74641769C>A	ENST00000373367.3	-	9	1023	c.793G>T	c.(793-795)Ggc>Tgc	p.G265C	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.G256C	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	265					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.G265C(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTGATGAAGCCAAGGTTGAAC	0.428																																						uc004ecg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(793-795)GGC>TGC		zinc finger, DHHC-type containing 15 isoform 1							98.0	87.0	91.0					X																	74641769		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74641769C>A	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.793G>T	X.37:g.74641769C>A	ENSP00000362465:p.Gly265Cys					ZDHHC15_uc004ech.2_Missense_Mutation_p.G256C|ZDHHC15_uc011mqo.1_RNA	p.G265C	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			9	1271	-			265					B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.793G>T	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591334	0.86851	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.61510	0.1;0.39	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.82056	0.4954	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86791	0.1985	10	0.87932	D	0	-2.1188	17.2382	0.87005	0.0:1.0:0.0:0.0	.	256;265	B3KVG7;Q96MV8	.;ZDH15_HUMAN	C	265;256	ENSP00000362465:G265C;ENSP00000445420:G256C	ENSP00000362465:G265C	G	-	1	0	ZDHHC15	74558494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.624000	0.67764	2.282000	0.76494	0.597000	0.82753	GGC		PASS	0.428	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		17	37	17	37	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650228	75650228	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:75650228G>T	ENST00000361470.2	+	1	2183	c.1905G>T	c.(1903-1905)caG>caT	p.Q635H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	635	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.Q635H(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TTGTATGGCAGCGTTACTTAG	0.478																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(1903-1905)CAG>CAT		melanoma antigen family E, 1							50.0	46.0	47.0					X																	75650228		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650228G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1905G>T	X.37:g.75650228G>T	ENSP00000354912:p.Gln635His						p.Q635H	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2112	+			635			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1905G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	3.211	-0.161572	0.06502	.	.	ENSG00000198934	ENST00000361470	T	0.05786	3.39	2.13	0.278	0.15673	.	.	.	.	.	T	0.15003	0.0362	L	0.55017	1.72	0.09310	N	1	D	0.71674	0.998	D	0.79784	0.993	T	0.14008	-1.0488	9	0.66056	D	0.02	.	4.1406	0.10191	0.4056:0.0:0.5944:0.0	.	635	Q9HCI5	MAGE1_HUMAN	H	635	ENSP00000354912:Q635H	ENSP00000354912:Q635H	Q	+	3	2	MAGEE1	75566632	1.000000	0.71417	0.016000	0.15963	0.001000	0.01503	1.333000	0.33816	-0.039000	0.13602	-0.215000	0.12644	CAG		PASS	0.478	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		10	24	10	24	---	---	---	---
TAF9B	51616	broad.mit.edu	37	X	77393468	77393468	+	Silent	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:77393468G>T	ENST00000341864.5	-	3	355	c.261C>A	c.(259-261)ccC>ccA	p.P87P		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	87					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)	p.P87P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATCTCTTGGGGGAGGAGAGG	0.338																																						uc004eda.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CCC>CCA		transcription associated factor 9B							125.0	112.0	116.0					X																	77393468		2203	4296	6499	SO:0001819	synonymous_variant	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77393468G>T	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.261C>A	X.37:g.77393468G>T							p.P87P	NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN			3	332	-			87					B2RUZ9|Q9Y2S3	Silent	SNP	ENST00000341864.5	37	c.261C>A	CCDS35340.1																																																																																				PASS	0.338	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		18	76	18	76	---	---	---	---
SATL1	340562	broad.mit.edu	37	X	84362765	84362765	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:84362765A>T	ENST00000395409.3	-	1	1209	c.649T>A	c.(649-651)Tca>Aca	p.S217T	SATL1_ENST00000332921.5_Missense_Mutation_p.S217T|SATL1_ENST00000509231.1_Missense_Mutation_p.S404T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	217	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.S404T(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTTGTGCCTGATTGGCTGGTG	0.532																																						uc011mqx.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1210-1212)TCA>ACA		spermidine/spermine N1-acetyl transferase-like 1							203.0	138.0	160.0					X																	84362765		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362765A>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.649T>A	X.37:g.84362765A>T	ENSP00000378804:p.Ser217Thr					SATL1_uc004een.2_Missense_Mutation_p.S404T	p.S404T	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	1210	-			217			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1210T>A		.	.	.	.	.	.	.	.	.	.	A	6.466	0.454216	0.12283	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.41758	0.99;0.99;0.99	4.26	-8.52	0.00920	.	.	.	.	.	T	0.16471	0.0396	N	0.21373	0.66	0.09310	N	1	P;P	0.47253	0.61;0.892	B;B	0.41202	0.19;0.35	T	0.17899	-1.0354	9	0.05833	T	0.94	-1.0637	2.2952	0.04148	0.2017:0.1027:0.4015:0.2942	.	217;404	Q86VE3;E9PB72	SATL1_HUMAN;.	T	217;217;404	ENSP00000378804:S217T;ENSP00000329115:S217T;ENSP00000425421:S404T	ENSP00000329115:S217T	S	-	1	0	SATL1	84249421	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.136000	0.00079	-2.946000	0.00295	-0.538000	0.04264	TCA		PASS	0.532	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		21	66	21	66	---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99956580	99956580	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:99956580T>C	ENST00000372989.1	-	5	531	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	SYTL4_ENST00000372981.1_Missense_Mutation_p.Q67R|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q67R|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q67R|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q67R|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q67R	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	67	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.Q67R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGGCTCTCCTGGCACCGGGC	0.547																																						uc004egd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(199-201)CAG>CGG		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						81.0	73.0	76.0					X																	99956580		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956580T>C		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.200A>G	X.37:g.99956580T>C	ENSP00000362080:p.Gln67Arg					SYTL4_uc010nnc.2_Missense_Mutation_p.Q67R|SYTL4_uc004ege.3_Missense_Mutation_p.Q67R|SYTL4_uc004egf.3_Missense_Mutation_p.Q67R|SYTL4_uc004egg.3_Missense_Mutation_p.Q67R	p.Q67R	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			5	556	-			67			RabBD.|FYVE-type.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.200A>G	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198168	0.58126	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.25	4.0	0.46444	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.253124	0.41294	D	0.000903	T	0.76793	0.4037	L	0.55743	1.74	0.32385	N	0.554053	P;D	0.54964	0.878;0.969	P;P	0.49922	0.546;0.626	T	0.80995	-0.1133	9	.	.	.	-18.9381	10.1456	0.42762	0.1514:0.0:0.0:0.8486	.	67;67	Q96C24-2;Q96C24	.;SYTL4_HUMAN	R	67	ENSP00000362080:Q67R;ENSP00000390252:Q67R;ENSP00000403556:Q67R;ENSP00000276141:Q67R;ENSP00000263033:Q67R;ENSP00000362072:Q67R	.	Q	-	2	0	SYTL4	99843236	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.755000	0.47540	1.863000	0.54032	0.486000	0.48141	CAG		PASS	0.547	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		13	81	13	81	---	---	---	---
BTK	695	broad.mit.edu	37	X	100630170	100630170	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:100630170G>T	ENST00000308731.7	-	2	266	c.103C>A	c.(103-105)Cac>Aac	p.H35N	BTK_ENST00000372880.1_Missense_Mutation_p.H35N|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	35	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.H35N(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAGAGTTTGTGCACGGTCAAG	0.433									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(103-105)CAC>AAC		Bruton agammaglobulinemia tyrosine kinase							198.0	174.0	182.0					X																	100630170		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630170G>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.103C>A	X.37:g.100630170G>T	ENSP00000308176:p.His35Asn					BTK_uc010nnn.2_Missense_Mutation_p.H35N|BTK_uc010nno.2_Missense_Mutation_p.H69N|BTK_uc004ehi.2_Missense_Mutation_p.H35N	p.H35N	NM_000061	NP_000052	Q06187	BTK_HUMAN			2	296	-			35			PH.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.103C>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	5.142	0.211778	0.09757	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.92397	-3.03;-3.03	5.35	2.39	0.29439	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.812808	0.11927	N	0.516104	D	0.86426	0.5930	N	0.25890	0.77	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.74362	-0.3690	10	0.41790	T	0.15	.	12.7758	0.57445	0.0:0.0:0.3166:0.6834	.	35;35;35	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	N	35	ENSP00000361971:H35N;ENSP00000308176:H35N	ENSP00000308176:H35N	H	-	1	0	BTK	100516826	0.201000	0.23410	0.099000	0.21106	0.836000	0.47400	1.400000	0.34577	0.442000	0.26555	-0.237000	0.12165	CAC		PASS	0.433	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		39	101	39	101	---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109963158	109963158	+	Splice_Site	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:109963158T>A	ENST00000372045.1	-	6	558		c.e6-2		CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000218054.4_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000394797.4_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site			Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.?(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GTTTCCCTCCTGCCAAGGAGA	0.468																																						uc004eou.3																			1	Unknown(1)		lung(1)		0						c.e6-1		chordin-like 1 isoform 1 precursor							82.0	69.0	73.0					X																	109963158		2203	4300	6503	SO:0001630	splice_region_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109963158T>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.427-2A>T	X.37:g.109963158T>A						CHRDL1_uc004eov.2_Splice_Site_p.E144_splice|CHRDL1_uc004eow.2_Splice_Site_p.E149_splice|CHRDL1_uc010nps.2_Splice_Site_p.E149_splice|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Intron	p.E150_splice	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			6	797	-								B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Splice_Site	SNP	ENST00000372045.1	37	c.448_splice		.	.	.	.	.	.	.	.	.	.	T	18.12	3.553861	0.65425	.	.	ENSG00000101938	ENST00000372045;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000444321	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6477	0.51271	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHRDL1	109849814	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.066000	0.64351	1.904000	0.55121	0.376000	0.23039	.		PASS	0.468	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	Intron	13	31	13	31	---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117540902	117540902	+	Silent	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:117540902A>G	ENST00000254029.3	+	10	1841	c.1446A>G	c.(1444-1446)ccA>ccG	p.P482P	WDR44_ENST00000371825.3_Silent_p.P482P|WDR44_ENST00000371822.5_Silent_p.P457P	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	482						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.P482P(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ACACAAGACCAGTTAAATTCA	0.373																																						uc004eqn.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1444-1446)CCA>CCG		WD repeat domain 44 protein							174.0	149.0	157.0					X																	117540902		2203	4300	6503	SO:0001819	synonymous_variant	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117540902A>G	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1446A>G	X.37:g.117540902A>G						WDR44_uc004eqo.2_Silent_p.P482P|WDR44_uc011mtr.1_Silent_p.P457P|WDR44_uc010nqi.2_Silent_p.P192P	p.P482P	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			10	1871	+			482					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Silent	SNP	ENST00000254029.3	37	c.1446A>G	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	A	9.969	1.224913	0.22457	.	.	ENSG00000131725	ENST00000371848	.	.	.	5.75	4.59	0.56863	.	.	.	.	.	T	0.48095	0.1481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48445	-0.9035	4	.	.	.	-18.4329	3.6685	0.08265	0.6353:0.0:0.1961:0.1686	.	.	.	.	G	382	.	.	S	+	1	0	WDR44	117424930	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	0.338000	0.19858	1.923000	0.55706	0.441000	0.28932	AGT		PASS	0.373	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		30	66	30	66	---	---	---	---
C1GALT1C1	29071	broad.mit.edu	37	X	119760290	119760290	+	Silent	SNP	A	A	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:119760290A>G	ENST00000304661.5	-	2	970	c.732T>C	c.(730-732)gaT>gaC	p.D244D	C1GALT1C1_ENST00000371313.2_Silent_p.D244D	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	244					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D244D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TATTAAATACATCTTTTCCAT	0.388																																						uc004esy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)GAT>GAC		C1GALT1-specific chaperone 1							146.0	137.0	140.0					X																	119760290		2203	4300	6503	SO:0001819	synonymous_variant	29071					integral to membrane		g.chrX:119760290A>G	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.732T>C	X.37:g.119760290A>G						C1GALT1C1_uc004esz.2_Silent_p.D244D	p.D244D	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN			3	1079	-			244			Lumenal (Potential).		A8K246|Q8WWS3|Q9NZX1	Silent	SNP	ENST00000304661.5	37	c.732T>C	CCDS14602.1																																																																																				PASS	0.388	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692		27	91	27	91	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123224532	123224532	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:123224532C>T	ENST00000371160.1	+	31	3675	c.3385C>T	c.(3385-3387)Ccc>Tcc	p.P1129S	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.P1129S|STAG2_ENST00000371157.3_Missense_Mutation_p.P1129S|STAG2_ENST00000371144.3_Missense_Mutation_p.P1129S|STAG2_ENST00000371145.3_Missense_Mutation_p.P1129S|STAG2_ENST00000354548.5_Missense_Mutation_p.P1060S	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1129					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.P1129S(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TATGAGAGAGCCCAAAAGATT	0.408																																						uc004etz.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(3385-3387)CCC>TCC		stromal antigen 2 isoform b							219.0	164.0	183.0					X																	123224532		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123224532C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3385C>T	X.37:g.123224532C>T	ENSP00000360202:p.Pro1129Ser					STAG2_uc004eua.2_Missense_Mutation_p.P1129S|STAG2_uc004eub.2_Missense_Mutation_p.P1129S|STAG2_uc004euc.2_Missense_Mutation_p.P1129S|STAG2_uc004eud.2_Missense_Mutation_p.P1129S|STAG2_uc004eue.2_Missense_Mutation_p.P1129S	p.P1129S	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			30	3724	+			1129					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.3385C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809027	0.31961	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.28666	2.0;1.6;1.6;1.6;2.0;1.6	4.72	4.72	0.59763	.	0.127455	0.53938	D	0.000050	T	0.25269	0.0614	L	0.38175	1.15	0.49389	D	0.999787	B;B	0.11235	0.004;0.002	B;B	0.15484	0.013;0.006	T	0.06588	-1.0818	10	0.12430	T	0.62	-11.9099	16.9348	0.86200	0.0:1.0:0.0:0.0	.	1129;1129	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	S	1129;1060;1129;1129;1129;1129	ENSP00000218089:P1129S;ENSP00000346555:P1060S;ENSP00000360202:P1129S;ENSP00000360199:P1129S;ENSP00000360187:P1129S;ENSP00000360186:P1129S	ENSP00000218089:P1129S	P	+	1	0	STAG2	123052213	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.341000	0.59335	2.174000	0.68829	0.544000	0.68410	CCC		PASS	0.408	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		22	65	22	65	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123538947	123538947	+	Silent	SNP	G	G	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:123538947G>C	ENST00000371130.3	-	26	5367	c.5304C>G	c.(5302-5304)ctC>ctG	p.L1768L	TENM1_ENST00000422452.2_Silent_p.L1775L|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1768					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L1770L(1)									GCCACTCGATGAGGTTTGCAT	0.517																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(5302-5304)CTC>CTG		odz, odd Oz/ten-m homolog 1 isoform 3							137.0	117.0	124.0					X																	123538947		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123538947G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5304C>G	X.37:g.123538947G>C						ODZ1_uc011muj.1_Silent_p.L1774L|ODZ1_uc010nqy.2_Silent_p.L1775L	p.L1768L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			26	5368	-			1768			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.5304C>G	CCDS14609.1																																																																																				PASS	0.517	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		24	77	24	77	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129063396	129063396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:129063396C>T	ENST00000394422.3	+	15	2156	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Nonsense_Mutation_p.Q658*|UTP14A_ENST00000371051.5_Nonsense_Mutation_p.Q656*|UTP14A_ENST00000371042.3_Nonsense_Mutation_p.Q542*	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	710					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.Q710*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ATGGAACACCCAGAGGGCTTT	0.507																																						uc004euz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2128-2130)CAG>TAG		UTP14, U3 small nucleolar ribonucleoprotein,							102.0	91.0	95.0					X																	129063396		2203	4300	6503	SO:0001587	stop_gained	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129063396C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.2128C>T	X.37:g.129063396C>T	ENSP00000377944:p.Gln710*					UTP14A_uc011mup.1_Nonsense_Mutation_p.Q658*|UTP14A_uc011muq.1_Nonsense_Mutation_p.Q656*	p.Q710*	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			15	2156	+			710					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Nonsense_Mutation	SNP	ENST00000394422.3	37	c.2128C>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	-	37	6.354271	0.97498	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	.	.	.	4.74	4.74	0.60224	.	0.125482	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.579	17.1206	0.86701	0.0:1.0:0.0:0.0	.	.	.	.	X	658;710;656;542	.	ENSP00000360081:Q542X	Q	+	1	0	UTP14A	128891077	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.726000	0.61986	1.962000	0.57031	0.585000	0.79938	CAG		PASS	0.507	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		22	64	22	64	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131219974	131219974	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:131219974C>G	ENST00000298542.4	-	6	646	c.471G>C	c.(469-471)aaG>aaC	p.K157N	FRMD7_ENST00000464296.1_Missense_Mutation_p.K142N|FRMD7_ENST00000370879.1_Missense_Mutation_p.K37N	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	157	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.K157N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGTGCATGATCTTGCCCTCTA	0.453																																						uc004ewn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(469-471)AAG>AAC		FERM domain containing 7							316.0	247.0	270.0					X																	131219974		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219974C>G	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.471G>C	X.37:g.131219974C>G	ENSP00000298542:p.Lys157Asn					FRMD7_uc011muy.1_Missense_Mutation_p.K142N	p.K157N	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			6	649	-	Acute lymphoblastic leukemia(192;0.000127)		157			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.471G>C	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137476	0.77775	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	T;T;T	0.78126	-0.76;-1.15;-1.15	5.71	4.85	0.62838	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.90178	0.4240	10	0.87932	D	0	.	12.9522	0.58407	0.0:0.9205:0.0:0.0795	.	142;157	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	N	37;157;142	ENSP00000359916:K37N;ENSP00000298542:K157N;ENSP00000417996:K142N	ENSP00000298542:K157N	K	-	3	2	FRMD7	131047655	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.468000	0.45102	1.179000	0.42884	0.600000	0.82982	AAG		PASS	0.453	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		36	117	36	117	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135312596	135312596	+	Silent	SNP	A	A	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:135312596A>T	ENST00000316077.9	-	10	1918	c.1698T>A	c.(1696-1698)tcT>tcA	p.S566S	MAP7D3_ENST00000370663.5_Silent_p.S548S|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Silent_p.S531S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	566					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.S863S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TAGTGGTTTTAGAAACTGTTT	0.353																																						uc004ezt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1696-1698)TCT>TCA		MAP7 domain containing 3							107.0	96.0	100.0					X																	135312596		1837	4079	5916	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135312596A>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1698T>A	X.37:g.135312596A>T						MAP7D3_uc004ezs.2_Silent_p.S530S|MAP7D3_uc011mwc.1_Silent_p.S548S|MAP7D3_uc010nsa.1_Silent_p.S524S	p.S566S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			10	1789	-	Acute lymphoblastic leukemia(192;0.000127)		566			Potential.		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1698T>A	CCDS44004.1																																																																																				PASS	0.353	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			16	98	16	98	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135427978	135427978	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:135427978C>A	ENST00000394143.1	+	6	2404	c.2113C>A	c.(2113-2115)Ctg>Atg	p.L705M	GPR112_ENST00000412101.1_Missense_Mutation_p.L500M|GPR112_ENST00000370652.1_Missense_Mutation_p.L705M|GPR112_ENST00000287534.4_Missense_Mutation_p.L642M|GPR112_ENST00000394141.1_Missense_Mutation_p.L500M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	705					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L705M(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCACCCCACTGAAAGCATC	0.393																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2113-2115)CTG>ATG		G-protein coupled receptor 112							90.0	79.0	83.0					X																	135427978		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427978C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2113C>A	X.37:g.135427978C>A	ENSP00000377699:p.Leu705Met					GPR112_uc010nsb.1_Missense_Mutation_p.L500M|GPR112_uc010nsc.1_Missense_Mutation_p.L472M	p.L705M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	2404	+	Acute lymphoblastic leukemia(192;0.000127)		705			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2113C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	10.27	1.303799	0.23736	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32023	1.51;1.51;1.47;1.62;1.47	2.64	-1.22	0.09494	.	.	.	.	.	T	0.13841	0.0335	N	0.14661	0.345	0.09310	N	1	P;P;P	0.44578	0.794;0.804;0.838	B;B;B	0.41646	0.294;0.362;0.276	T	0.09862	-1.0655	9	0.34782	T	0.22	.	0.6142	0.00766	0.2513:0.3447:0.2298:0.1742	.	642;500;705	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	705;705;500;642;500	ENSP00000377699:L705M;ENSP00000359686:L705M;ENSP00000416526:L500M;ENSP00000287534:L642M;ENSP00000377697:L500M	ENSP00000287534:L642M	L	+	1	2	GPR112	135255644	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	0.041000	0.13927	-0.102000	0.12197	0.279000	0.19357	CTG		PASS	0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			14	64	14	64	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135496412	135496412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:135496412C>A	ENST00000394143.1	+	25	9422	c.9131C>A	c.(9130-9132)tCa>tAa	p.S3044*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.S2839*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S3044*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S2763*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S2839*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3044					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S3044*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTCTCAAGTCAACTGCAACT	0.418																																						uc004ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(9130-9132)TCA>TAA		G-protein coupled receptor 112							148.0	147.0	147.0					X																	135496412		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135496412C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9131C>A	X.37:g.135496412C>A	ENSP00000377699:p.Ser3044*					GPR112_uc010nsb.1_Nonsense_Mutation_p.S2839*	p.S3044*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			25	9422	+	Acute lymphoblastic leukemia(192;0.000127)		3044			Cytoplasmic (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.9131C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	50	17.061153	0.99878	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	13.4234	0.61011	0.0:1.0:0.0:0.0	.	.	.	.	X	3044;3044;2839;2763;2839	.	ENSP00000287534:S2763X	S	+	2	0	GPR112	135324078	0.837000	0.29446	0.935000	0.37517	0.697000	0.40408	3.866000	0.56040	2.323000	0.78572	0.506000	0.49869	TCA		PASS	0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			41	138	41	138	---	---	---	---
FGF13	2258	broad.mit.edu	37	X	137715014	137715014	+	Silent	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:137715014C>G	ENST00000315930.6	-	5	1396	c.735G>C	c.(733-735)acG>acC	p.T245T	FGF13_ENST00000541469.1_Silent_p.T199T|FGF13_ENST00000305414.4_Silent_p.T192T|FGF13_ENST00000370603.3_Silent_p.T255T|FGF13_ENST00000441825.2_Silent_p.T226T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	245					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.T245T(1)|p.T192T(1)|p.T255T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGGCTACGTTGATTCAT	0.502																																						uc004fam.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(733-735)ACG>ACC		fibroblast growth factor 13 isoform 1							249.0	194.0	213.0					X																	137715014		2203	4300	6503	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715014C>G	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.735G>C	X.37:g.137715014C>G						FGF13_uc004fan.2_Silent_p.T192T|FGF13_uc011mwi.1_Silent_p.T226T|FGF13_uc004faq.2_Silent_p.T255T|FGF13_uc004far.2_Silent_p.T226T|FGF13_uc011mwj.1_Silent_p.T255T|FGF13_uc011mwk.1_Silent_p.T199T	p.T245T	NM_004114	NP_004105	Q92913	FGF13_HUMAN			5	1397	-	Acute lymphoblastic leukemia(192;0.000127)		245					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	c.735G>C	CCDS14665.1																																																																																				PASS	0.502	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		42	132	42	132	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142717782	142717782	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:142717782C>A	ENST00000381779.4	-	2	1368	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	SLITRK4_ENST00000338017.4_Missense_Mutation_p.K381N|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K381N	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	381						integral component of membrane (GO:0016021)		p.K381N(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGTGCAGCTTCTTCGCAT	0.413																																						uc004fbx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1141-1143)AAG>AAT		slit and trk like 4 protein precursor							223.0	179.0	194.0					X																	142717782		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717782C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1143G>T	X.37:g.142717782C>A	ENSP00000371198:p.Lys381Asn					SLITRK4_uc004fby.2_Missense_Mutation_p.K381N	p.K381N	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1519	-	Acute lymphoblastic leukemia(192;6.56e-05)		381			Extracellular (Potential).|LRR 7.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1143G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036369	0.35893	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.50277	0.75;0.75;0.75	5.38	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	N	0.22421	0.69	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.50406	-0.8832	10	0.62326	D	0.03	-12.1864	8.9232	0.35623	0.0:0.7565:0.0:0.2435	.	381	Q8IW52	SLIK4_HUMAN	N	381	ENSP00000371198:K381N;ENSP00000349400:K381N;ENSP00000336627:K381N	ENSP00000336627:K381N	K	-	3	2	SLITRK4	142545448	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.081000	0.30791	0.569000	0.29329	0.594000	0.82650	AAG		PASS	0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		34	148	34	148	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817144	150817144	+	Silent	SNP	T	T	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:150817144T>A	ENST00000370357.4	+	9	932	c.687T>A	c.(685-687)gcT>gcA	p.A229A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	229	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAACCCgctgctgctgctg	0.428																																						uc004fev.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(685-687)GCT>GCA		PAS domain containing 1							78.0	76.0	77.0					X																	150817144		2203	4299	6502	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150817144T>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.687T>A	X.37:g.150817144T>A							p.A229A	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			9	1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		229			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.687T>A	CCDS35431.1																																																																																				PASS	0.428	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		22	72	22	72	---	---	---	---
PNMA3	29944	broad.mit.edu	37	X	152226044	152226044	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:152226044G>T	ENST00000370264.4	+	1	658	c.632G>T	c.(631-633)gGc>gTc	p.G211V	PNMA3_ENST00000447306.1_Missense_Mutation_p.G211V|PNMA3_ENST00000370265.4_Missense_Mutation_p.G211V			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	211					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G211V(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgcttacggggccctgctctc	0.612																																						uc004fhc.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)	3						c.(631-633)GGC>GTC		paraneoplastic cancer-testis-brain antigen							70.0	69.0	70.0					X																	152226044		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226044G>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.632G>T	X.37:g.152226044G>T	ENSP00000359286:p.Gly211Val					PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	p.G211V	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			2	968	+	Acute lymphoblastic leukemia(192;6.56e-05)		211					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.632G>T	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	12.53	1.965242	0.34659	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.41065	1.01;1.01;1.01	1.98	1.98	0.26296	.	.	.	.	.	T	0.60534	0.2276	M	0.77616	2.38	0.20563	N	0.999888	D	0.89917	1.0	D	0.91635	0.999	T	0.43015	-0.9417	9	0.87932	D	0	.	6.8643	0.24084	0.0:0.0:1.0:0.0	.	211	Q9UL41	PNMA3_HUMAN	V	211	ENSP00000359288:G211V;ENSP00000407642:G211V;ENSP00000359286:G211V	ENSP00000359286:G211V	G	+	2	0	PNMA3	151976700	0.138000	0.22547	0.011000	0.14972	0.014000	0.08584	2.435000	0.44811	1.297000	0.44761	0.464000	0.42555	GGC		PASS	0.612	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		19	72	19	72	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153587658	153587658	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:153587658C>G	ENST00000369850.3	-	25	4495	c.4259G>C	c.(4258-4260)gGc>gCc	p.G1420A	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.G1420A|FLNA_ENST00000344736.4_Missense_Mutation_p.G1420A|FLNA_ENST00000422373.1_Missense_Mutation_p.G1420A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1420					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G1420A(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGTAGGTGCCAGCCTCATA	0.637																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(4258-4260)GGC>GCC		filamin A, alpha isoform 2							55.0	61.0	59.0					X																	153587658		2132	4211	6343	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587658C>G	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4259G>C	X.37:g.153587658C>G	ENSP00000358866:p.Gly1420Ala					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1420A	p.G1420A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			25	4508	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1420			Filamin 12.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4259G>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972040	0.53614	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99679	1.0998	10	0.72032	D	0.01	.	18.5019	0.90884	0.0:1.0:0.0:0.0	.	1420;1420	P21333-2;P21333	.;FLNA_HUMAN	A	1420;1393;1420;1420;1420	ENSP00000353467:G1420A;ENSP00000416926:G1420A;ENSP00000358866:G1420A;ENSP00000358863:G1420A	ENSP00000358863:G1420A	G	-	2	0	FLNA	153240852	1.000000	0.71417	0.973000	0.42090	0.056000	0.15407	7.788000	0.85771	2.311000	0.77944	0.600000	0.82982	GGC		PASS	0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			21	77	21	77	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153595790	153595790	+	Silent	SNP	C	C	A			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:153595790C>A	ENST00000369850.3	-	5	1079	c.843G>T	c.(841-843)ccG>ccT	p.P281P	FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000344736.4_Silent_p.P281P|FLNA_ENST00000422373.1_Silent_p.P281P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	281					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.P281P(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCTTTCTTCGGGTTCAGTT	0.622																																						uc004fkk.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)	6						c.(841-843)CCG>CCT		filamin A, alpha isoform 2							49.0	54.0	52.0					X																	153595790		2186	4281	6467	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153595790C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.843G>T	X.37:g.153595790C>A						FLNA_uc010nuu.1_Silent_p.P281P	p.P281P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			5	1092	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		281			Filamin 1.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.843G>T	CCDS48194.1																																																																																				PASS	0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			14	48	14	48	---	---	---	---
F8	2157	broad.mit.edu	37	X	154134724	154134724	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chrX:154134724T>C	ENST00000360256.4	-	15	5544	c.5344A>G	c.(5344-5346)Ata>Gta	p.I1782V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1782	F5/8 type A 3.|Plastocyanin-like 5.		I -> R (in HEMA; severe sporadic). {ECO:0000269|PubMed:11341489}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.I1782V(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTGCTCTTATATATGGCCCC	0.343																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5344-5346)ATA>GTA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						105.0	104.0	104.0					X																	154134724		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154134724T>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5344A>G	X.37:g.154134724T>C	ENSP00000353393:p.Ile1782Val					F8_uc010nvi.1_Translation_Start_Site	p.I1782V	NM_000132	NP_000123	P00451	FA8_HUMAN			15	5515	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1782		I -> R (in HEMA; severe sporadic).	F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5344A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629894	0.46944	.	.	ENSG00000185010	ENST00000360256	D	0.99252	-5.63	5.6	4.38	0.52667	Cupredoxin (2);	0.044930	0.85682	D	0.000000	D	0.98498	0.9499	M	0.81497	2.545	0.50039	D	0.999843	B	0.29862	0.259	B	0.34452	0.183	D	0.97145	0.9827	10	0.72032	D	0.01	-20.8346	10.1596	0.42844	0.1597:0.0:0.0:0.8403	.	1782	P00451	FA8_HUMAN	V	1782	ENSP00000353393:I1782V	ENSP00000353393:I1782V	I	-	1	0	F8	153787918	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.116000	0.50399	0.683000	0.31428	0.486000	0.48141	ATA		PASS	0.343	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			25	92	25	92	---	---	---	---
MAGEF1	64110	broad.mit.edu	37	3	184429387	184429387	+	Frame_Shift_Del	DEL	G	G	-			TCGA-21-5782-01A-01D-1632-08	TCGA-21-5782-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c2ad4a0-5d57-4e27-9f35-058b2f205f50	50497294-50a7-42e2-b6f7-f5d379589860	g.chr3:184429387delG	ENST00000317897.3	-	1	449	c.223delC	c.(223-225)cggfs	p.R75fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	75						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CGATTCAGCCGGCGGTAGGCC	0.647																																						uc003fpa.2																			0				ovary(1)	1						c.(223-225)CGGfs		melanoma antigen family F, 1							67.0	76.0	73.0					3																	184429387		2203	4300	6503	SO:0001589	frameshift_variant	64110							g.chr3:184429387delG	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.223delC	3.37:g.184429387delG	ENSP00000315064:p.Arg75fs						p.R75fs	NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	450	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		75					Q9H215	Frame_Shift_Del	DEL	ENST00000317897.3	37	c.223delC	CCDS3269.1																																																																																					0.647	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		137	100	137	100	---	---	---	---
