#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
CAMTA1	23261	broad.mit.edu	37	1	7724962	7724962	+	Silent	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:7724962G>A	ENST00000303635.7	+	9	2562	c.2355G>A	c.(2353-2355)ggG>ggA	p.G785G	CAMTA1_ENST00000439411.2_Silent_p.G785G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	785					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G785G(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)		CCGTGGAGGGGGGCAGCAGCA	0.627			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2353-2355)GGG>GGA		calmodulin-binding transcription activator 1							158.0	181.0	173.0					1																	7724962		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724962G>A	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.2355G>A	1.37:g.7724962G>A							p.G785G	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)	9	2562	+	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)	785					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2355G>A	CCDS30576.1																																																																																				PASS	0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		84	173	84	173	---	---	---	---
H6PD	9563	broad.mit.edu	37	1	9323588	9323588	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:9323588A>G	ENST00000377403.2	+	5	1338	c.1036A>G	c.(1036-1038)Aac>Gac	p.N346D	H6PD_ENST00000602477.1_Missense_Mutation_p.N357D	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	346	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.N346D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGACAACCTTCGCTG	0.607																																						uc001apt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)AAC>GAC		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						110.0	114.0	113.0					1																	9323588		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323588A>G	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1036A>G	1.37:g.9323588A>G	ENSP00000366620:p.Asn346Asp						p.N346D	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1309	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	346			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1036A>G	CCDS101.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718999	0.30503	.	.	ENSG00000049239	ENST00000377403	D	0.98747	-5.11	5.39	5.39	0.77823	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.195954	0.53938	D	0.000051	D	0.98160	0.9392	M	0.87456	2.885	0.49687	D	0.999817	B	0.14012	0.009	B	0.18263	0.021	D	0.97297	0.9928	10	0.87932	D	0	-38.7352	14.5954	0.68400	1.0:0.0:0.0:0.0	.	346	O95479	G6PE_HUMAN	D	346	ENSP00000366620:N346D	ENSP00000366620:N346D	N	+	1	0	H6PD	9246175	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	5.758000	0.68776	2.048000	0.60808	0.454000	0.30748	AAC		PASS	0.607	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		27	42	27	42	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21031280	21031280	+	Silent	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:21031280G>C	ENST00000247986.2	-	5	1093	c.783C>G	c.(781-783)acC>acG	p.T261T	KIF17_ENST00000400463.3_Silent_p.T261T|KIF17_ENST00000375044.1_Silent_p.T161T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	261	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.T261T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTTGATCTTGGTGGCCTCCT	0.682																																						uc001bdr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(781-783)ACC>ACG		kinesin family member 17 isoform a							60.0	63.0	62.0					1																	21031280		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031280G>C	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.783C>G	1.37:g.21031280G>C						KIF17_uc001bds.3_Silent_p.T261T	p.T261T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	901	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	261			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.783C>G	CCDS213.1																																																																																				PASS	0.682	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		34	49	34	49	---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21139701	21139701	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:21139701G>C	ENST00000264211.8	-	29	4573	c.4379C>G	c.(4378-4380)cCt>cGt	p.P1460R	EIF4G3_ENST00000536266.1_Missense_Mutation_p.P1064R|EIF4G3_ENST00000602326.1_Missense_Mutation_p.P1466R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P1466R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P1460R|EIF4G3_ENST00000537738.1_Missense_Mutation_p.P950R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P1180R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1460	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.P1466R(1)|p.P1460R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGGAATGTAGGTGAACTCAT	0.388																																						uc001bec.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(4378-4380)CCT>CGT		eukaryotic translation initiation factor 4							64.0	62.0	63.0					1																	21139701		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21139701G>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4379C>G	1.37:g.21139701G>C	ENSP00000264211:p.Pro1460Arg					EIF4G3_uc010odi.1_Missense_Mutation_p.P1064R|EIF4G3_uc010odj.1_Missense_Mutation_p.P1459R|EIF4G3_uc009vpz.2_Missense_Mutation_p.P1180R|EIF4G3_uc001bed.2_Missense_Mutation_p.P1460R|EIF4G3_uc001bef.2_Missense_Mutation_p.P1496R|EIF4G3_uc001bee.2_Missense_Mutation_p.P1466R	p.P1460R	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	30	4635	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1460			EIF4A-binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.4379C>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443354	0.83993	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.08282	3.69;3.69;3.51;3.11;3.69;3.37	5.92	5.92	0.95590	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.220291	0.48767	D	0.000177	T	0.21801	0.0525	L	0.39514	1.22	0.80722	D	1	D;B;B;D;B	0.71674	0.998;0.059;0.081;0.997;0.226	P;B;B;D;B	0.63597	0.893;0.017;0.061;0.916;0.093	T	0.00048	-1.2203	10	0.45353	T	0.12	-11.5248	20.33	0.98713	0.0:0.0:1.0:0.0	.	1655;1180;1064;1466;1460	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	R	1460;1656;1460;1180;950;1466;1064	ENSP00000264211:P1460R;ENSP00000383274:P1460R;ENSP00000364071:P1180R;ENSP00000442010:P950R;ENSP00000364073:P1466R;ENSP00000444693:P1064R	ENSP00000264211:P1460R	P	-	2	0	EIF4G3	21012288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.280000	0.72626	2.810000	0.96702	0.585000	0.79938	CCT		PASS	0.388	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		14	30	14	30	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23189667	23189667	+	Missense_Mutation	SNP	C	C	A	rs150415344	byFrequency	TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:23189667C>A	ENST00000400191.3	+	4	967	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.L311M|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374632.3_Missense_Mutation_p.L317M|EPHB2_ENST00000374630.3_Missense_Mutation_p.L317M|EPHB2_ENST00000544305.1_Missense_Mutation_p.L317M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	317	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.L317M(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTGGACCCCCTGGACATGCC	0.597																																						uc009vqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(949-951)CTG>ATG		ephrin receptor EphB2 isoform 1 precursor							78.0	70.0	72.0					1																	23189667		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23189667C>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.949C>A	1.37:g.23189667C>A	ENSP00000383053:p.Leu317Met					EPHB2_uc001bge.2_Missense_Mutation_p.L317M|EPHB2_uc001bgf.2_Missense_Mutation_p.L317M|EPHB2_uc010odu.1_Missense_Mutation_p.L317M|hsa-mir-4253|MI0015860_RNA	p.L317M	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	4	1094	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	317			Extracellular (Potential).|Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.949C>A		.	.	.	.	.	.	.	.	.	.	C	15.21	2.765281	0.49574	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D;D	0.97575	-4.44;-4.43;-4.43;-4.43;-4.37	4.97	3.06	0.35304	Fibronectin, type III (1);	0.323996	0.25011	N	0.033827	D	0.94955	0.8368	L	0.52126	1.63	0.25122	N	0.99063	B;B;B;B	0.30526	0.093;0.283;0.134;0.211	B;B;B;B	0.37198	0.004;0.243;0.163;0.21	D	0.90401	0.4402	10	0.66056	D	0.02	.	8.1641	0.31215	0.0:0.6121:0.3011:0.0868	.	317;317;335;317	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	317;317;317;317;317;311	ENSP00000444174:L317M;ENSP00000363761:L317M;ENSP00000383053:L317M;ENSP00000363763:L317M;ENSP00000363758:L311M	ENSP00000363755:L317M	L	+	1	2	EPHB2	23062254	0.001000	0.12720	1.000000	0.80357	0.977000	0.68977	0.428000	0.21395	0.656000	0.30886	0.561000	0.74099	CTG		PASS	0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		20	32	20	32	---	---	---	---
RHD	6007	broad.mit.edu	37	1	25599144	25599144	+	Missense_Mutation	SNP	G	G	A	rs201595703	byFrequency	TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:25599144G>A	ENST00000328664.4	+	1	261	c.106G>A	c.(106-108)Gct>Act	p.A36T	RHD_ENST00000423810.2_Missense_Mutation_p.A36T|RHD_ENST00000568195.1_Missense_Mutation_p.A36T|RHD_ENST00000357542.4_Missense_Mutation_p.A36T|RHD_ENST00000342055.5_Missense_Mutation_p.A36T|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.A36T|RHD_ENST00000417538.2_Missense_Mutation_p.A36T	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	36						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.A36T(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACTATGACGCTTCCTTAGA	0.547													g|||	2	0.000399361	0.0	0.0	5008	,	,		16015	0.0		0.002	False		,,,				2504	0.0					uc001bjz.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(106-108)GCT>ACT		Rh blood group D antigen isoform 1							71.0	63.0	66.0					1																	25599144		2200	4295	6495	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25599144G>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.106G>A	1.37:g.25599144G>A	ENSP00000331871:p.Ala36Thr					RHD_uc010oep.1_Missense_Mutation_p.A36T|RHD_uc001bkc.2_Missense_Mutation_p.A36T|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Missense_Mutation_p.A36T|RHD_uc001bkb.2_Missense_Mutation_p.A36T|RHD_uc009vrn.2_Missense_Mutation_p.A36T|RHD_uc009vro.2_Missense_Mutation_p.A36T|RHD_uc009vrp.2_Missense_Mutation_p.A36T	p.A36T	NM_016124	NP_057208	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	164	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	36					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.106G>A	CCDS262.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	6.513	0.462898	0.12402	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	3.5	-7.0	0.01599	Ammonium transporter AmtB-like (1);	1.409180	0.04480	N	0.377668	T	0.18593	0.0446	N	0.04655	-0.195	0.09310	N	1	B;B;D;B;B;B;B;B	0.89917	0.029;0.016;1.0;0.029;0.004;0.021;0.122;0.046	B;B;D;B;B;B;B;B	0.81914	0.01;0.016;0.995;0.01;0.004;0.005;0.042;0.024	T	0.20140	-1.0284	10	0.09843	T	0.71	1.166	3.9284	0.09273	0.1384:0.3503:0.3952:0.1162	.	36;36;36;36;36;36;36;36	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	T	36	ENSP00000331871:A36T;ENSP00000413849:A36T;ENSP00000339577:A36T;ENSP00000350150:A36T;ENSP00000396420:A36T;ENSP00000399640:A36T	ENSP00000331871:A36T	A	+	1	0	RHD	25471731	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.032000	0.01426	-2.589000	0.00457	-1.285000	0.01374	GCT		PASS	0.547	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		10	62	10	62	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38082241	38082241	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:38082241G>T	ENST00000401069.1	-	4	913	c.201C>A	c.(199-201)aaC>aaA	p.N67K	RSPO1_ENST00000373059.1_Missense_Mutation_p.N40K|RSPO1_ENST00000401068.1_Missense_Mutation_p.N67K|RSPO1_ENST00000401071.2_Missense_Mutation_p.N67K|RSPO1_ENST00000356545.2_Missense_Mutation_p.N67K|RSPO1_ENST00000401070.1_Missense_Mutation_p.N67K	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	67					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.N67K(1)|p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCGGATGTCGTTCCTCTCCA	0.617																																					GBM(122;680 2230 27822 42821)	uc001cbl.1																			2	Substitution - Missense(1)|Unknown(1)		lung(2)		0						c.(199-201)AAC>AAA		R-spondin1 precursor							79.0	83.0	81.0					1																	38082241		2085	4216	6301	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082241G>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.201C>A	1.37:g.38082241G>T	ENSP00000383847:p.Asn67Lys					RSPO1_uc001cbm.1_Missense_Mutation_p.N67K|RSPO1_uc009vvf.1_Missense_Mutation_p.N40K|RSPO1_uc009vvg.1_Missense_Mutation_p.N67K	p.N67K	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN			5	989	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	67			FU 1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.201C>A	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901879	0.72754	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.69	4.77	0.60923	Growth factor, receptor (1);	0.046236	0.85682	D	0.000000	D	0.86678	0.5990	M	0.67569	2.06	0.80722	D	1	P;D;P	0.57257	0.509;0.979;0.912	B;P;P	0.52554	0.297;0.702;0.507	D	0.84504	0.0618	10	0.27785	T	0.31	.	11.0649	0.47970	0.1432:0.0:0.8568:0.0	.	67;40;67	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	K	40;67;67;67;67;67	ENSP00000362150:N40K;ENSP00000383848:N67K;ENSP00000348944:N67K;ENSP00000383849:N67K;ENSP00000383847:N67K;ENSP00000383846:N67K	ENSP00000348944:N67K	N	-	3	2	RSPO1	37854828	0.946000	0.32159	1.000000	0.80357	0.997000	0.91878	0.117000	0.15583	1.401000	0.46761	0.555000	0.69702	AAC		PASS	0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		15	53	15	53	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43775104	43775104	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:43775104G>C	ENST00000372476.3	+	9	1313	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	TIE1_ENST00000433781.2_Missense_Mutation_p.E57Q	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	412	Ig-like C2-type 2.				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.E412Q(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)				AGCTGAGTTCGAGGTGCCCCG	0.597																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1234-1236)GAG>CAG		tyrosine kinase with immunoglobulin-like and							144.0	128.0	134.0					1																	43775104		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43775104G>C	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.1234G>C	1.37:g.43775104G>C	ENSP00000361554:p.Glu412Gln					TIE1_uc010okd.1_Missense_Mutation_p.E412Q|TIE1_uc010oke.1_Missense_Mutation_p.E367Q|TIE1_uc009vwq.2_Missense_Mutation_p.E368Q|TIE1_uc010okf.1_Missense_Mutation_p.E57Q|TIE1_uc010okg.1_Missense_Mutation_p.E57Q|TIE1_uc010okc.1_3'UTR	p.E412Q	NM_005424	NP_005415	P35590	TIE1_HUMAN			9	1313	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	412			Ig-like C2-type 2.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1234G>C	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253502	0.22965	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.41400	2.71;1.0	4.87	3.93	0.45458	Immunoglobulin-like fold (1);	0.186887	0.25932	N	0.027365	T	0.26085	0.0636	N	0.16307	0.4	0.33663	D	0.609992	B;B;B;B;B	0.25235	0.026;0.032;0.121;0.015;0.04	B;B;B;B;B	0.21151	0.013;0.023;0.033;0.006;0.031	T	0.21895	-1.0232	10	0.12766	T	0.61	.	15.7926	0.78376	0.0:0.2153:0.7847:0.0	.	57;367;412;57;412	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	Q	412;57	ENSP00000361554:E412Q;ENSP00000411728:E57Q	ENSP00000361554:E412Q	E	+	1	0	TIE1	43547691	0.986000	0.35501	0.986000	0.45419	0.902000	0.53008	2.452000	0.44961	2.252000	0.74401	0.563000	0.77884	GAG		PASS	0.597	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		10	27	10	27	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45501360	45501360	+	Splice_Site	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:45501360C>T	ENST00000359600.5	-	10	2496	c.2291G>A	c.(2290-2292)aGg>aAg	p.R764K	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	764						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.R764K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTACCCACCTCATGGCACG	0.463																																						uc001cnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2290-2292)AGG>AAG		zinc finger, SWIM domain containing 5							70.0	68.0	69.0					1																	45501360		1949	4141	6090	SO:0001630	splice_region_variant	57643						zinc ion binding	g.chr1:45501360C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2291+1G>A	1.37:g.45501360C>T							p.R764K	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			10	2519	-	Acute lymphoblastic leukemia(166;0.155)		764					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2291G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	c	35	5.489045	0.96323	.	.	ENSG00000162415	ENST00000359600	T	0.56776	0.44	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.75499	-0.3296	9	.	.	.	-10.4912	19.433	0.94779	0.0:1.0:0.0:0.0	.	764	Q9P217	ZSWM5_HUMAN	K	764	ENSP00000352614:R764K	.	R	-	2	0	ZSWIM5	45273947	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.750000	0.85110	2.779000	0.95612	0.655000	0.94253	AGG		PASS	0.463	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581	Missense_Mutation	15	17	15	17	---	---	---	---
PRDX1	5052	broad.mit.edu	37	1	45980646	45980646	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:45980646T>C	ENST00000262746.1	-	4	621	c.282A>G	c.(280-282)caA>caG	p.Q94Q	PRDX1_ENST00000319248.8_Silent_p.Q94Q|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000483583.1_5'Flank	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	94	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)	p.Q94Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CCAGTCCTCCTTGTTTCTTAG	0.453																																						uc001cnz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)CAA>CAG		peroxiredoxin 1							227.0	211.0	216.0					1																	45980646		2203	4300	6503	SO:0001819	synonymous_variant	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45980646T>C	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.282A>G	1.37:g.45980646T>C						PRDX1_uc001coa.2_Silent_p.Q94Q|PRDX1_uc001cob.2_Silent_p.Q94Q|PRDX1_uc001coc.2_Silent_p.Q94Q	p.Q94Q	NM_181697	NP_859048	Q06830	PRDX1_HUMAN			3	314	-	Acute lymphoblastic leukemia(166;0.155)		94			Thioredoxin.		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Silent	SNP	ENST00000262746.1	37	c.282A>G	CCDS522.1																																																																																				PASS	0.453	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		55	105	55	105	---	---	---	---
PLPPR5	163404	broad.mit.edu	37	1	99422237	99422237	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:99422237G>T	ENST00000263177.4	-	2	519	c.298C>A	c.(298-300)Cag>Aag	p.Q100K	LPPR5_ENST00000370188.3_Missense_Mutation_p.Q100K	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		100						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.Q100K(1)									GTTTTTTCCTGGTTTTCAAAA	0.328																																						uc001dsb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)CAG>AAG		phosphatidic acid phosphatase type 2d isoform 1							66.0	70.0	69.0					1																	99422237		2202	4300	6502	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99422237G>T																												ENST00000263177.4:c.298C>A	1.37:g.99422237G>T	ENSP00000263177:p.Gln100Lys					LPPR5_uc001dsc.2_Missense_Mutation_p.Q100K	p.Q100K	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			2	520	-			100					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.298C>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217412	0.22373	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.41065	1.01;1.01	4.74	4.74	0.60224	.	0.326111	0.33670	N	0.004667	T	0.18718	0.0449	L	0.52573	1.65	0.35051	D	0.76063	B;B	0.13594	0.008;0.004	B;B	0.15052	0.012;0.005	T	0.13442	-1.0509	10	0.05620	T	0.96	.	17.0811	0.86599	0.0:0.0:1.0:0.0	.	100;100	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	K	100	ENSP00000359207:Q100K;ENSP00000263177:Q100K	ENSP00000263177:Q100K	Q	-	1	0	AL161744.1	99194825	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.821000	0.75272	2.342000	0.79632	0.591000	0.81541	CAG		PASS	0.328	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			16	38	16	38	---	---	---	---
KCNC4	3749	broad.mit.edu	37	1	110754721	110754721	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:110754721C>A	ENST00000369787.3	+	1	627	c.600C>A	c.(598-600)gcC>gcA	p.A200A	KCNC4_ENST00000438661.2_Silent_p.A200A|KCNC4_ENST00000413138.3_Silent_p.A200A|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	200					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A200A(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCATGGCGCCGGGTCTGGGG	0.771																																						uc001dzh.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(598-600)GCC>GCA		Shaw-related voltage-gated potassium channel							4.0	5.0	5.0					1																	110754721		1091	2606	3697	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754721C>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.600C>A	1.37:g.110754721C>A						KCNC4_uc001dzf.2_Silent_p.A200A|KCNC4_uc009wfr.2_Silent_p.A200A|KCNC4_uc001dzg.2_Silent_p.A200A|KCNC4_uc001dzi.2_RNA	p.A200A	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	657	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	200			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.600C>A	CCDS821.1																																																																																				PASS	0.771	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		4	4	4	4	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477408	150477408	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:150477408T>C	ENST00000369064.3	+	16	1881	c.1847T>C	c.(1846-1848)gTg>gCg	p.V616A	TARS2_ENST00000606933.1_Missense_Mutation_p.V534A|TARS2_ENST00000369054.2_Missense_Mutation_p.V486A	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	616					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.V616A(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGTTCCAGGTGGTGGTCATC	0.552																																						uc001euq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1846-1848)GTG>GCG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						93.0	81.0	85.0					1																	150477408		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477408T>C	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1847T>C	1.37:g.150477408T>C	ENSP00000358060:p.Val616Ala					TARS2_uc001eur.2_Missense_Mutation_p.V534A|TARS2_uc009wlt.2_Missense_Mutation_p.V242A|TARS2_uc009wls.2_Missense_Mutation_p.V486A	p.V616A	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		16	1854	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		616					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1847T>C	CCDS952.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534357	0.45073	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.87029	-2.2;-2.2;-2.2	5.06	3.91	0.45181	Anticodon-binding (3);	0.236669	0.35235	N	0.003355	T	0.72676	0.3490	L	0.32530	0.975	0.80722	D	1	B;B;B	0.31040	0.305;0.053;0.053	B;B;B	0.37692	0.256;0.083;0.083	T	0.71978	-0.4429	10	0.33141	T	0.24	-9.4078	8.2787	0.31887	0.0:0.1489:0.0:0.8511	.	486;341;616	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	A	486;616;341;341	ENSP00000358050:V486A;ENSP00000358060:V616A;ENSP00000358047:V341A	ENSP00000358047:V341A	V	+	2	0	TARS2	148744032	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	2.408000	0.44574	2.135000	0.66039	0.459000	0.35465	GTG		PASS	0.552	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		13	39	13	39	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152129048	152129048	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:152129048T>A	ENST00000316073.3	-	3	591	c.527A>T	c.(526-528)cAa>cTa	p.Q176L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	176	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.Q176L(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATCTCTGTCTTGTCTCTCAGG	0.468																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CAA>CTA		repetin							524.0	447.0	470.0					1																	152129048		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129048T>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.527A>T	1.37:g.152129048T>A	ENSP00000317895:p.Gln176Leu						p.Q176L	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	592	-			176			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.527A>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817424	0.50633	.	.	ENSG00000215853	ENST00000316073	T	0.14022	2.54	5.07	1.1	0.20463	.	0.000000	0.31872	U	0.006929	T	0.15132	0.0365	M	0.82323	2.585	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06881	-1.0802	10	0.30854	T	0.27	-0.0059	1.3401	0.02153	0.1852:0.1005:0.1774:0.5369	.	176	Q6XPR3	RPTN_HUMAN	L	176	ENSP00000317895:Q176L	ENSP00000317895:Q176L	Q	-	2	0	RPTN	150395672	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	-0.089000	0.11180	0.242000	0.21303	0.386000	0.25728	CAA		PASS	0.468	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		205	195	205	195	---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155252407	155252407	+	Missense_Mutation	SNP	C	C	T	rs34277242		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:155252407C>T	ENST00000368358.3	+	2	492	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	162					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R162W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCACCGCGGGCCATCCG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		16705	0.0		0.001	False		,,,				2504	0.0					uc001fjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(484-486)CGG>TGG		hyperpolarization activated cyclic							102.0	88.0	93.0					1																	155252407		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155252407C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.484C>T	1.37:g.155252407C>T	ENSP00000357342:p.Arg162Trp					RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	p.R162W	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	492	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		162			Cytoplasmic (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.484C>T	CCDS1108.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.76	2.631426	0.46944	.	.	ENSG00000143630	ENST00000368358	D	0.94576	-3.46	4.97	0.66	0.17868	Ion transport (1);	0.299368	0.23455	N	0.048000	D	0.91399	0.7286	L	0.54965	1.715	0.20196	N	0.999922	P	0.37573	0.6	P	0.51453	0.67	D	0.87077	0.2163	10	0.87932	D	0	.	9.1725	0.37091	0.4264:0.443:0.1306:0.0	.	162	Q9P1Z3	HCN3_HUMAN	W	162	ENSP00000357342:R162W	ENSP00000357342:R162W	R	+	1	2	HCN3	153519031	0.236000	0.23804	0.005000	0.12908	0.264000	0.26372	1.126000	0.31344	0.033000	0.15463	-0.226000	0.12346	CGG		PASS	0.567	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		37	53	37	53	---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173703000	173703000	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:173703000A>T	ENST00000209884.4	+	3	308	c.172A>T	c.(172-174)Att>Ttt	p.I58F	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	58					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.I58F(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CTTGGAAGTGATTAACCTTCT	0.527																																					GBM(159;862 2695 6559 23041)	uc001gjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)ATT>TTT		kelch-like 20							120.0	112.0	115.0					1																	173703000		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173703000A>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.172A>T	1.37:g.173703000A>T	ENSP00000209884:p.Ile58Phe					KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.I40F|KLHL20_uc001gjd.2_Missense_Mutation_p.I58F	p.I58F	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			3	351	+			58					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.172A>T	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884579	0.51908	.	.	ENSG00000076321	ENST00000209884	T	0.69926	-0.44	5.73	5.73	0.89815	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	N	0.01817	-0.705	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.007;0.009	T	0.23726	-1.0180	9	.	.	.	.	15.0565	0.71917	1.0:0.0:0.0:0.0	.	58;58	Q9BS75;Q9Y2M5	.;KLH20_HUMAN	F	58	ENSP00000209884:I58F	.	I	+	1	0	KLHL20	171969623	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.261000	0.78400	2.190000	0.69967	0.524000	0.50904	ATT		PASS	0.527	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		19	77	19	77	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173907969	173907969	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:173907969T>A	ENST00000367696.2	-	20	3643	c.3292A>T	c.(3292-3294)Agc>Tgc	p.S1098C	RC3H1_ENST00000367694.2_Missense_Mutation_p.S1090C|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1098C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1098					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1098C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GATAGGAGGCTGATATTCTCT	0.413																																						uc001gju.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3292-3294)AGC>TGC		roquin							123.0	118.0	119.0					1																	173907969		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173907969T>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3292A>T	1.37:g.173907969T>A	ENSP00000356669:p.Ser1098Cys					RC3H1_uc010pms.1_Missense_Mutation_p.S1089C|RC3H1_uc001gjv.2_Missense_Mutation_p.S1090C|RC3H1_uc010pmt.1_Missense_Mutation_p.S1099C	p.S1098C	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			19	3379	-			1098					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.3292A>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252984	0.59212	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.54479	0.62;0.62;0.57	5.82	2.26	0.28386	.	0.295173	0.43747	D	0.000531	T	0.17152	0.0412	N	0.24115	0.695	0.35712	D	0.816468	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.03706	-1.1011	10	0.72032	D	0.01	-1.1018	5.6008	0.17353	0.1219:0.3282:0.0:0.5499	.	1099;1089;1090;1098	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	C	1098;1098;1090	ENSP00000356669:S1098C;ENSP00000258349:S1098C;ENSP00000356667:S1090C	ENSP00000258349:S1098C	S	-	1	0	RC3H1	172174592	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	0.493000	0.22451	0.138000	0.18790	-0.250000	0.11733	AGC		PASS	0.413	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		52	46	52	46	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2																			8	Substitution - Missense(8)		lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	ovary(2)	2						c.(118-120)GTG>GGG		DEAH (Asp-Glu-Ala-His) box polypeptide 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly					DHX9_uc001gps.2_5'UTR	p.V40G	NM_001357	NP_001348	Q08211	DHX9_HUMAN			3	282	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		PASS	0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	32	7	32	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186072723	186072724	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:186072723_186072724GA>TT	ENST00000271588.4	+	69	10922_10923	c.10693_10694GA>TT	c.(10693-10695)GAt>TTt	p.D3565F	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3565F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3565	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D3565Y(1)|p.D3565F(1)|p.D3565V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGATGAAAGATGGCCGGCCC	0.436																																						uc001grq.1																			3	Substitution - Missense(3)		lung(3)	ovary(22)|skin(1)	23						c.(10693-10695)GAT>TAT|c.(10693-10695)GAT>GTT		hemicentin 1 precursor																																				SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186072723G>T|g.chr1:186072724A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	Exception_encountered	1.37:g.186072723_186072724delinsTT	ENSP00000271588:p.Asp3565Phe						p.D3565Y|p.D3565V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			69	10922|10923	+			3565			Ig-like C2-type 34.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10693G>T|c.10694A>T	CCDS30956.1																																																																																				PASS	0.436	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		27	24|22	27	22	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196461394	196461394	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:196461394G>C	ENST00000294725.9	-	2	1088	c.173C>G	c.(172-174)tCa>tGa	p.S58*	KCNT2_ENST00000367433.5_Nonsense_Mutation_p.S58*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.S58*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.S58*|KCNT2_ENST00000451324.2_De_novo_Start_InFrame			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	58					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S58*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAACTTACTTGATCTCTGGTT	0.259																																						uc001gtd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(172-174)TCA>TGA		potassium channel, subfamily T, member 2							30.0	31.0	31.0					1																	196461394		2134	4231	6365	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196461394G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.173C>G	1.37:g.196461394G>C	ENSP00000294725:p.Ser58*					KCNT2_uc001gte.1_Nonsense_Mutation_p.S58*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.S58*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.S58*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.S58*	p.S58*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			2	233	-			58			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.173C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646005	0.96704	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	4.99	4.99	0.66335	.	0.000000	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-14.2893	17.5638	0.87914	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000294725:S58X	S	-	2	0	KCNT2	194728017	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.783000	0.91813	2.762000	0.94881	0.484000	0.47621	TCA		PASS	0.259	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		5	6	5	6	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197404496	197404496	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:197404496G>A	ENST00000367400.3	+	9	3638	c.3503G>A	c.(3502-3504)gGa>gAa	p.G1168E	CRB1_ENST00000367399.2_Missense_Mutation_p.G1056E|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_Missense_Mutation_p.G549E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.G1144E|CRB1_ENST00000544212.1_Missense_Mutation_p.G649E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1168	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1168E(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTCCCTTGGGATGGTCAGGG	0.473																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(3502-3504)GGA>GAA		crumbs homolog 1 precursor							128.0	101.0	110.0					1																	197404496		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404496G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3503G>A	1.37:g.197404496G>A	ENSP00000356370:p.Gly1168Glu					CRB1_uc010poz.1_Missense_Mutation_p.G1144E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G1056E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.G649E|CRB1_uc001gub.1_Missense_Mutation_p.G817E	p.G1168E	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3638	+			1168			Extracellular (Potential).|EGF-like 15.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3503G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053714	0.75960	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74;-4.74	5.7	5.7	0.88788	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98874	0.9619	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	1.0;1.0;0.972;1.0	D	0.99723	1.1010	9	0.87932	D	0	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	1144;1056;817;1168	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	E	1144;1168;1056;649;549;817	ENSP00000438786:G1144E;ENSP00000356370:G1168E;ENSP00000356369:G1056E;ENSP00000444556:G649E;ENSP00000356367:G549E	ENSP00000356367:G549E	G	+	2	0	CRB1	195671119	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.368000	0.97152	2.681000	0.91329	0.650000	0.86243	GGA		PASS	0.473	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		10	40	10	40	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201687855	201687855	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:201687855A>T	ENST00000367296.4	+	3	1618	c.1198A>T	c.(1198-1200)Atg>Ttg	p.M400L	MIR5191_ENST00000577455.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.M400L|NAV1_ENST00000367300.3_Missense_Mutation_p.M400L|NAV1_ENST00000367302.1_Missense_Mutation_p.M413L|NAV1_ENST00000367297.4_Missense_Mutation_p.M400L|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	400					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.M400L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGGCAAGACCATGACGGAGGA	0.582																																						uc001gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1198-1200)ATG>TTG		neuron navigator 1							121.0	109.0	113.0					1																	201687855		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201687855A>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1198A>T	1.37:g.201687855A>T	ENSP00000356265:p.Met400Leu						p.M400L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			3	1545	+			400					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1198A>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	1.055	-0.674746	0.03378	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.05139	3.49;3.5;3.5;3.5;3.49	5.58	3.3	0.37823	.	0.246177	0.42420	D	0.000711	T	0.01353	0.0044	N	0.00483	-1.445	0.23309	N	0.997937	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	10	0.02654	T	1	-23.2646	4.8354	0.13462	0.6197:0.1515:0.2288:0.0	.	400	Q8NEY1-3	.	L	413;400;400;400;400	ENSP00000356271:M413L;ENSP00000356265:M400L;ENSP00000295624:M400L;ENSP00000356266:M400L;ENSP00000356269:M400L	ENSP00000295624:M400L	M	+	1	0	NAV1	199954478	0.886000	0.30341	1.000000	0.80357	0.376000	0.30014	1.701000	0.37825	0.948000	0.37687	0.460000	0.39030	ATG		PASS	0.582	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		47	39	47	39	---	---	---	---
CR1L	1379	broad.mit.edu	37	1	207871122	207871122	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:207871122C>A	ENST00000508064.2	+	7	1106	c.1046C>A	c.(1045-1047)tCc>tAc	p.S349Y	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	349	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.S349Y(1)|p.S357Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGTGAAATCCTGTGATGAC	0.408																																						uc001hga.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1045-1047)TCC>TAC		complement component (3b/4b) receptor 1-like							262.0	239.0	246.0					1																	207871122		1860	4090	5950	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207871122C>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1046C>A	1.37:g.207871122C>A	ENSP00000421736:p.Ser349Tyr					CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	p.S349Y	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			7	1167	+			349			Sushi 6.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1046C>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	1.640	-0.516793	0.04200	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.34072	1.38	2.53	-0.59	0.11679	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.35335	0.0928	M	0.82056	2.57	0.09310	N	1	P	0.43633	0.813	B	0.40329	0.326	T	0.22068	-1.0227	9	0.34782	T	0.22	.	4.9899	0.14209	0.0:0.5008:0.0:0.4992	.	349	Q2VPA4	CR1L_HUMAN	Y	349	ENSP00000421736:S349Y	ENSP00000434864:S293Y	S	+	2	0	CR1L	205937745	0.048000	0.20356	0.098000	0.21074	0.018000	0.09664	0.151000	0.16283	-0.005000	0.14395	-0.708000	0.03648	TCC		PASS	0.408	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		46	202	46	202	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210948775	210948775	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:210948775G>A	ENST00000271751.4	-	10	2054	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	KCNH1_ENST00000367007.4_Missense_Mutation_p.A649V			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	676	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.A676V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTCTGCAGGGCATCCCGCTT	0.512																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2026-2028)GCC>GTC		potassium voltage-gated channel, subfamily H,							129.0	107.0	114.0					1																	210948775		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210948775G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2027C>T	1.37:g.210948775G>A	ENSP00000271751:p.Ala676Val					KCNH1_uc001hic.2_Missense_Mutation_p.A649V	p.A676V	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	10	2197	-			676			Cytoplasmic (Potential).|cNMP.|Calmodulin-binding.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2027C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488083	0.84854	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.92911	-3.13;-3.13	5.46	4.52	0.55395	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	L	0.41710	1.295	0.80722	D	1	D;D	0.56035	0.974;0.971	D;P	0.63113	0.911;0.9	D	0.92309	0.5856	10	0.36615	T	0.2	.	15.9571	0.79896	0.0:0.1353:0.8647:0.0	.	649;676	Q14CL3;O95259	.;KCNH1_HUMAN	V	676;649	ENSP00000271751:A676V;ENSP00000355974:A649V	ENSP00000271751:A676V	A	-	2	0	KCNH1	209015398	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.507000	0.97996	1.252000	0.44001	0.555000	0.69702	GCC		PASS	0.512	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		3	40	3	40	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216256872	216256872	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:216256872A>G	ENST00000307340.3	-	26	5610	c.5224T>C	c.(5224-5226)Ttt>Ctt	p.F1742L	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.F1742L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1742	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.F1742L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAACTTAAAGGAAATCTCA	0.299										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5224-5226)TTT>CTT		usherin isoform B							100.0	103.0	102.0					1																	216256872		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216256872A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5224T>C	1.37:g.216256872A>G	ENSP00000305941:p.Phe1742Leu	HNSCC(13;0.011)					p.F1742L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5611	-			1742			Laminin G-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5224T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303760	0.23736	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.75938	-0.98;-0.98	4.49	3.19	0.36642	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);	0.925427	0.08649	N	0.914273	T	0.61912	0.2385	L	0.41632	1.29	0.32625	N	0.5228	B	0.09022	0.002	B	0.06405	0.002	T	0.54022	-0.8355	10	0.07990	T	0.79	.	7.8434	0.29412	0.8739:0.0:0.1261:0.0	.	1742	O75445	USH2A_HUMAN	L	1742	ENSP00000305941:F1742L;ENSP00000355910:F1742L	ENSP00000305941:F1742L	F	-	1	0	USH2A	214323495	1.000000	0.71417	0.916000	0.36221	0.972000	0.66771	4.178000	0.58284	0.533000	0.28675	0.533000	0.62120	TTT		PASS	0.299	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		49	119	49	119	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216595381	216595381	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:216595381G>A	ENST00000307340.3	-	2	684	c.298C>T	c.(298-300)Ctt>Ttt	p.L100F	USH2A_ENST00000366942.3_Missense_Mutation_p.L100F|USH2A_ENST00000366943.2_Missense_Mutation_p.L100F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	100					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L100F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGAGAAAAGGGCAGTGTAG	0.453										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(298-300)CTT>TTT		usherin isoform B							118.0	110.0	113.0					1																	216595381		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595381G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.298C>T	1.37:g.216595381G>A	ENSP00000305941:p.Leu100Phe	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L100F	p.L100F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	685	-			100			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.298C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715321	0.89112	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.27104	2.01;2.0;1.69	5.42	5.42	0.78866	.	0.000000	0.37669	U	0.001982	T	0.50820	0.1638	M	0.74258	2.255	0.39192	D	0.962987	D;D	0.89917	0.992;1.0	P;D	0.83275	0.847;0.996	T	0.56257	-0.8009	10	0.72032	D	0.01	.	13.5971	0.61996	0.0:0.0:0.844:0.156	.	100;100	O75445-2;O75445	.;USH2A_HUMAN	F	100	ENSP00000305941:L100F;ENSP00000355910:L100F;ENSP00000355909:L100F	ENSP00000305941:L100F	L	-	1	0	USH2A	214662004	0.999000	0.42202	0.398000	0.26321	0.876000	0.50452	3.707000	0.54838	2.543000	0.85770	0.591000	0.81541	CTT		PASS	0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	49	17	49	---	---	---	---
RHOU	58480	broad.mit.edu	37	1	228873446	228873446	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:228873446G>A	ENST00000366691.3	+	2	955	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_021205.5	NP_067028.1			ras homolog family member U									p.V97M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGGGCGGCCCGTGAGACTCCA	0.443																																						uc001htf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)GTG>ATG		ras homolog gene family, member U							100.0	94.0	96.0					1																	228873446		2203	4300	6503	SO:0001583	missense	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228873446G>A		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.289G>A	1.37:g.228873446G>A	ENSP00000355652:p.Val97Met						p.V97M	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN			2	910	+	Breast(184;0.162)	Prostate(94;0.183)	97						Missense_Mutation	SNP	ENST00000366691.3	37	c.289G>A	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496230	0.85069	.	.	ENSG00000116574	ENST00000366691	T	0.79653	-1.29	5.21	3.33	0.38152	Small GTP-binding protein domain (1);	0.057164	0.64402	N	0.000001	D	0.85221	0.5647	M	0.70787	2.145	0.58432	D	0.999997	D	0.67145	0.996	P	0.60789	0.879	D	0.85501	0.1191	10	0.87932	D	0	.	8.6941	0.34284	0.1846:0.0:0.8154:0.0	.	97	Q7L0Q8	RHOU_HUMAN	M	97	ENSP00000355652:V97M	ENSP00000355652:V97M	V	+	1	0	RHOU	226940069	1.000000	0.71417	0.875000	0.34327	0.932000	0.56968	6.693000	0.74582	1.191000	0.43056	0.557000	0.71058	GTG		PASS	0.443	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		25	37	25	37	---	---	---	---
TAF5L	27097	broad.mit.edu	37	1	229738436	229738436	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:229738436C>A	ENST00000366676.1	-	3	477	c.478G>T	c.(478-480)Gat>Tat	p.D160Y	TAF5L_ENST00000258281.2_Missense_Mutation_p.D160Y|TAF5L_ENST00000366675.3_Missense_Mutation_p.D160Y			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	160					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D160Y(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TACTTGTTATCTAGGAATGCT	0.468																																						uc001htq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(478-480)GAT>TAT		PCAF associated factor 65 beta isoform a							182.0	172.0	175.0					1																	229738436		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738436C>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.478G>T	1.37:g.229738436C>A	ENSP00000355636:p.Asp160Tyr					TAF5L_uc001htr.2_Missense_Mutation_p.D160Y	p.D160Y	NM_014409	NP_055224	O75529	TAF5L_HUMAN			4	644	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	160					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.478G>T	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471339	0.84533	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.59083	0.29;0.29;0.88	5.8	5.8	0.92144	TFIID subunit, WD40-associated region (1);	0.094499	0.64402	D	0.000001	T	0.66117	0.2757	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.65443	0.935;0.913	T	0.61613	-0.7027	9	.	.	.	-32.64	20.0464	0.97608	0.0:1.0:0.0:0.0	.	160;160	O75529-2;O75529	.;TAF5L_HUMAN	Y	160	ENSP00000355636:D160Y;ENSP00000258281:D160Y;ENSP00000355635:D160Y	.	D	-	1	0	TAF5L	227805059	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	4.518000	0.60510	2.739000	0.93911	0.650000	0.86243	GAT		PASS	0.468	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		63	66	63	66	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237778080	237778080	+	Missense_Mutation	SNP	G	G	T	rs202117250		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:237778080G>T	ENST00000366574.2	+	37	5969	c.5652G>T	c.(5650-5652)aaG>aaT	p.K1884N	RYR2_ENST00000360064.6_Missense_Mutation_p.K1882N|RYR2_ENST00000542537.1_Missense_Mutation_p.K1868N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1884	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K1882N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAAGCCAAGGGGGGCAAGC	0.512																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5650-5652)AAG>AAT		cardiac muscle ryanodine receptor							45.0	48.0	47.0					1																	237778080		2000	4162	6162	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237778080G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5652G>T	1.37:g.237778080G>T	ENSP00000355533:p.Lys1884Asn						p.K1884N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5772	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1884			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5652G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934017	0.18206	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.33	1.82	0.25136	.	0.595473	0.15628	U	0.252546	T	0.57548	0.2061	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.50074	-0.8870	10	0.54805	T	0.06	.	8.4118	0.32648	0.7684:0.0:0.2316:0.0	.	1884	Q92736	RYR2_HUMAN	N	1884;1882;1868	ENSP00000355533:K1884N;ENSP00000353174:K1882N;ENSP00000443798:K1868N	ENSP00000353174:K1882N	K	+	3	2	RYR2	235844703	1.000000	0.71417	0.440000	0.26846	0.279000	0.26890	2.641000	0.46587	0.345000	0.23873	-0.312000	0.09012	AAG		PASS	0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	21	17	21	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256012	240256012	+	Silent	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:240256012G>A	ENST00000319653.9	+	1	833	c.603G>A	c.(601-603)caG>caA	p.Q201Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	201	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.Q344Q(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACATCCAGCAGGCGATCCGCC	0.632																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(601-603)CAG>CAA		formin 2							48.0	47.0	47.0					1																	240256012		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256012G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.603G>A	1.37:g.240256012G>A						FMN2_uc010pye.1_Silent_p.Q201Q	p.Q201Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	828	+	Ovarian(103;0.127)	all_cancers(173;0.013)	201			Potential.|Gln-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.603G>A	CCDS31069.2																																																																																				PASS	0.632	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	32	8	32	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240519117	240519117	+	Splice_Site	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:240519117C>A	ENST00000319653.9	+	14	4997	c.4767C>A	c.(4765-4767)gcC>gcA	p.A1589A	FMN2_ENST00000545751.1_Splice_Site_p.A185A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1589	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A1732A(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAATTTCAGCCTGTGAAGTTG	0.353																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4765-4767)GCC>GCA		formin 2							87.0	80.0	82.0					1																	240519117		2203	4300	6503	SO:0001630	splice_region_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240519117C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4766-1C>A	1.37:g.240519117C>A						FMN2_uc010pye.1_Silent_p.A1593A|FMN2_uc010pyf.1_Intron|FMN2_uc010pyg.1_Silent_p.A185A	p.A1589A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		14	4992	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1589			FH2.|Potential.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4767C>A	CCDS31069.2																																																																																				PASS	0.353	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Silent	12	18	12	18	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241146395	241146395	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:241146395T>C	ENST00000407727.1	-	3	209	c.210A>G	c.(208-210)ttA>ttG	p.L70L	RGS7_ENST00000348120.2_Silent_p.L70L|RGS7_ENST00000366563.1_Silent_p.L70L|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366564.1_Silent_p.L70L|RGS7_ENST00000366565.1_Silent_p.L70L|RGS7_ENST00000366562.4_Silent_p.L70L|RGS7_ENST00000401882.1_Silent_p.L70L|RGS7_ENST00000331110.7_Silent_p.L44L			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	70	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				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.L70L(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)			CTTCTATAGTTAAGTTCTTTA	0.274																																						uc001hyv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(208-210)TTA>TTG		regulator of G-protein signaling 7							45.0	46.0	46.0					1																	241146395		2198	4293	6491	SO:0001819	synonymous_variant	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.chr1:241146395T>C	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.210A>G	1.37:g.241146395T>C						RGS7_uc010pyh.1_Silent_p.L44L|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.L70L|RGS7_uc009xgn.1_Silent_p.L70L|RGS7_uc001hyw.2_Silent_p.L70L	p.L70L	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		4	540	-		all_cancers(173;0.0131)	70			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.210A>G																																																																																					PASS	0.274	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		9	16	9	16	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243581361	243581361	+	Silent	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:243581361A>G	ENST00000366541.3	+	15	1954	c.1836A>G	c.(1834-1836)caA>caG	p.Q612Q	SDCCAG8_ENST00000355875.4_Silent_p.Q569Q|SDCCAG8_ENST00000343783.6_Silent_p.Q467Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	612	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.Q612Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AACTGGAACAAATCTCTCAAA	0.328																																						uc001hzw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1834-1836)CAA>CAG		serologically defined colon cancer antigen 8							74.0	77.0	76.0					1																	243581361		2203	4300	6503	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243581361A>G	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1836A>G	1.37:g.243581361A>G						SDCCAG8_uc010pyk.1_Silent_p.Q467Q|SDCCAG8_uc010pyl.1_Silent_p.Q424Q|SDCCAG8_uc001hzx.2_Intron	p.Q612Q	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	15	1992	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	612			Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.1836A>G	CCDS31075.1																																																																																				PASS	0.328	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		17	54	17	54	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343811	248343811	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr1:248343811C>A	ENST00000359682.2	+	1	524	c.524C>A	c.(523-525)gCc>gAc	p.A175D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A175D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			CGGGAAATAGCCCACTTCTTC	0.428																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(523-525)GCC>GAC		olfactory receptor, family 2, subfamily M,							234.0	229.0	231.0					1																	248343811		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343811C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.524C>A	1.37:g.248343811C>A	ENSP00000352710:p.Ala175Asp						p.A175D	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	524	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		175			Extracellular (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.524C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.901337	0.00517	.	.	ENSG00000198601	ENST00000359682	T	0.00042	8.84	1.88	-3.75	0.04372	GPCR, rhodopsin-like superfamily (1);	1.030670	0.07836	N	0.962109	T	0.00039	0.0001	N	0.00450	-1.49	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.03025	-1.1081	10	0.11182	T	0.66	.	5.2435	0.15485	0.631:0.2225:0.1465:0.0	.	175	Q96R28	OR2M2_HUMAN	D	175	ENSP00000352710:A175D	ENSP00000352710:A175D	A	+	2	0	OR2M2	246410434	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.385000	0.20685	-0.395000	0.07715	0.454000	0.30748	GCC		PASS	0.428	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		145	150	145	150	---	---	---	---
AC113607.3	0	broad.mit.edu	37	2	905530	905530	+	RNA	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:905530T>A	ENST00000427019.1	-	0	1178																		p.E139V(1)									TTTCATTTCCTCCCGGCCTCC	0.612																																						uc010ewg.2																			1	Substitution - Missense(1)		lung(1)										Homo sapiens cDNA FLJ46162 fis, clone TESTI4002520.							199.0	241.0	228.0					2																	905530		1700	3840	5540			0							g.chr2:905530T>A																													2.37:g.905530T>A						uc010ewh.1_Missense_Mutation_p.E139V								1		-									RNA	SNP	ENST00000427019.1	37	c.53A>T																																																																																					PASS	0.612	AC113607.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000322408.1			8	371	8	371	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31572970	31572970	+	Silent	SNP	C	C	A	rs369230654		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:31572970C>A	ENST00000379416.3	-	25	2799	c.2751G>T	c.(2749-2751)ggG>ggT	p.G917G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	917					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.G917G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TCCCCTGGGGCCCCCCAAAGC	0.572																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2749-2751)GGG>GGT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						88.0	101.0	96.0					2																	31572970		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31572970C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2751G>T	2.37:g.31572970C>A							p.G917G	NM_000379	NP_000370	P47989	XDH_HUMAN			25	2830	-	Acute lymphoblastic leukemia(172;0.155)		917					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.2751G>T	CCDS1775.1																																																																																				PASS	0.572	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		43	98	43	98	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190309	49190309	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:49190309G>A	ENST00000406846.2	-	10	1770	c.1651C>T	c.(1651-1653)Cac>Tac	p.H551Y	FSHR_ENST00000304421.4_Missense_Mutation_p.H525Y|FSHR_ENST00000346173.3_Missense_Mutation_p.H489Y|FSHR_ENST00000541117.1_Missense_Mutation_p.H287Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	551					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.H551Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGGTAGATGTGGATATAGCAG	0.532									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1651-1653)CAC>TAC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						125.0	101.0	109.0					2																	49190309		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190309G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1651C>T	2.37:g.49190309G>A	ENSP00000384708:p.His551Tyr					FSHR_uc002rwx.2_Missense_Mutation_p.H489Y|FSHR_uc010fbn.2_Missense_Mutation_p.H525Y	p.H551Y	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1725	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	551			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1651C>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539192	0.45176	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.391181	0.30134	N	0.010339	T	0.50803	0.1637	L	0.59436	1.845	0.28230	N	0.926138	D;D;D	0.69078	0.975;0.997;0.975	P;D;P	0.79784	0.811;0.993;0.811	T	0.49551	-0.8928	9	.	.	.	.	7.2512	0.26150	0.0906:0.1741:0.7353:0.0	.	525;489;551	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Y	551;489;525;287	ENSP00000384708:H551Y;ENSP00000333908:H489Y;ENSP00000306780:H525Y;ENSP00000444172:H287Y	.	H	-	1	0	FSHR	49043813	0.994000	0.37717	0.974000	0.42286	0.887000	0.51463	2.163000	0.42377	2.941000	0.99782	0.655000	0.94253	CAC		PASS	0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			5	13	5	13	---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72360206	72360206	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:72360206C>A	ENST00000001146.2	-	5	1295	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	CYP26B1_ENST00000412253.1_Silent_p.L173L|CYP26B1_ENST00000546307.1_Silent_p.L289L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	364					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.L364L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGGGCGTGAACAGGCGCATGA	0.677																																						uc002sih.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1090-1092)CTG>CTT		cytochrome P450, family 26, subfamily b,							65.0	57.0	60.0					2																	72360206		2201	4299	6500	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360206C>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1092G>T	2.37:g.72360206C>A						CYP26B1_uc010yra.1_Silent_p.L347L|CYP26B1_uc010yrb.1_Silent_p.L289L	p.L364L	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			5	1092	-			364					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.1092G>T	CCDS1919.1																																																																																				PASS	0.677	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		10	36	10	36	---	---	---	---
IGKV1-9	28941	broad.mit.edu	37	2	89309502	89309502	+	RNA	SNP	A	A	T	rs372436717		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:89309502A>T	ENST00000493819.1	-	0	385									immunoglobulin kappa variable 1-9																		AGCTGTTGACAGTAATAAGTT	0.522																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							141.0	135.0	137.0					2																	89309502		1880	4098	5978			0							g.chr2:89309502A>T	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309502A>T						uc002stl.2_Intron								74		-									RNA	SNP	ENST00000493819.1	37	c.6845T>A																																																																																					PASS	0.522	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		41	78	41	78	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109087168	109087168	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:109087168T>C	ENST00000309863.6	+	6	2097	c.1383T>C	c.(1381-1383)ggT>ggC	p.G461G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	461					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.G461G(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAATACAGGGTCTTAAGGAAC	0.299																																						uc002tec.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1381-1383)GGT>GGC		GRIP and coiled-coil domain-containing 2							35.0	38.0	37.0					2																	109087168		2203	4289	6492	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087168T>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1383T>C	2.37:g.109087168T>C						GCC2_uc002ted.2_Silent_p.G360G	p.G461G	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	1537	+			461			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.1383T>C	CCDS33268.1																																																																																				PASS	0.299	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		17	25	17	25	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141232773	141232773	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:141232773T>C	ENST00000389484.3	-	60	10530	c.9559A>G	c.(9559-9561)Aga>Gga	p.R3187G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3187					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R3187G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTAGAGTCTACGATTAACA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9559-9561)AGA>GGA		low density lipoprotein-related protein 1B							109.0	100.0	103.0					2																	141232773		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232773T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9559A>G	2.37:g.141232773T>C	ENSP00000374135:p.Arg3187Gly	TSP Lung(27;0.18)					p.R3187G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	60	10531	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3187			Extracellular (Potential).|LDL-receptor class B 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9559A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308443	0.60305	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92149	-2.98	5.63	3.04	0.35103	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	H	0.95004	3.61	0.47511	D	0.999448	D	0.76494	0.999	D	0.78314	0.991	D	0.96746	0.9550	10	0.66056	D	0.02	.	12.087	0.53702	0.0:0.0:0.2714:0.7286	.	3187	Q9NZR2	LRP1B_HUMAN	G	3187;3125	ENSP00000374135:R3187G	ENSP00000374135:R3187G	R	-	1	2	LRP1B	140949243	0.997000	0.39634	0.914000	0.36105	0.969000	0.65631	2.638000	0.46562	0.920000	0.36970	0.528000	0.53228	AGA		PASS	0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	37	35	37	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141473550	141473550	+	Silent	SNP	T	T	A	rs148114444		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:141473550T>A	ENST00000389484.3	-	37	6986	c.6015A>T	c.(6013-6015)ccA>ccT	p.P2005P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2005					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P2005P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCCTTTCTCTGGGTGCACAG	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6013-6015)CCA>CCT		low density lipoprotein-related protein 1B							97.0	98.0	98.0					2																	141473550		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473550T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6015A>T	2.37:g.141473550T>A		TSP Lung(27;0.18)					p.P2005P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6987	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2005			Extracellular (Potential).|LDL-receptor class B 20.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.6015A>T	CCDS2182.1																																																																																				PASS	0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		26	45	26	45	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170013975	170013975	+	Silent	SNP	G	G	A	rs143815721		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:170013975G>A	ENST00000263816.3	-	64	12210	c.11925C>T	c.(11923-11925)tgC>tgT	p.C3975C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3975	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3975C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATTTTGCTCGCATATATTTT	0.383																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11923-11925)TGC>TGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G		0,4406		0,0,2203	148.0	142.0	144.0		11925	-2.2	0.9	2	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRP2	NM_004525.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		3975/4656	170013975	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170013975G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11925C>T	2.37:g.170013975G>A							p.C3975C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	64	12138	-			3975			EGF-like 14.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11925C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	1.391	-0.580851	0.03854	0.0	2.33E-4	ENSG00000081479	ENST00000536293	.	.	.	5.88	-2.19	0.07015	.	.	.	.	.	T	0.69611	0.3130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71856	-0.4466	5	0.87932	D	0	.	12.812	0.57645	0.7529:0.0:0.2471:0.0	.	.	.	.	V	640	.	ENSP00000438157:A640V	A	-	2	0	LRP2	169722221	1.000000	0.71417	0.888000	0.34837	0.188000	0.23474	1.293000	0.33353	-0.641000	0.05487	-2.623000	0.00156	GCG		PASS	0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		9	15	9	15	---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197777635	197777635	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:197777635G>A	ENST00000354764.4	-	4	734	c.620C>T	c.(619-621)cCt>cTt	p.P207L	PGAP1_ENST00000409475.1_Missense_Mutation_p.P207L|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.P165L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	207					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.P207L(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TGGCATCACAGGAGCAACATG	0.368																																						uc002utw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(619-621)CCT>CTT		GPI deacylase							107.0	105.0	105.0					2																	197777635		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197777635G>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.620C>T	2.37:g.197777635G>A	ENSP00000346809:p.Pro207Leu					PGAP1_uc002utx.2_Missense_Mutation_p.P33L|PGAP1_uc002uty.1_Missense_Mutation_p.P207L|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.P33L	p.P207L	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			4	734	-			207			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.620C>T	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827769	0.90955	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	D;D;D	0.87650	-2.28;-2.28;-2.28	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.971;0.956;0.999	D	0.94645	0.7834	10	0.72032	D	0.01	-19.9494	19.0935	0.93238	0.0:0.0:1.0:0.0	.	165;207;207	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	L	207;207;165	ENSP00000346809:P207L;ENSP00000387028:P207L;ENSP00000386802:P165L	ENSP00000346809:P207L	P	-	2	0	PGAP1	197485880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.703000	0.91344	2.742000	0.94016	0.650000	0.86243	CCT		PASS	0.368	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		15	32	15	32	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220167078	220167078	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:220167078G>A	ENST00000295718.2	-	6	1015	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.H169Y|PTPRN_ENST00000409251.3_Missense_Mutation_p.H259Y	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	259					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H259Y(2)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCGTAGGAGTGGCCAGGGTGG	0.637																																						uc002vkz.2																			2	Substitution - Missense(2)	p.H259Y(1)	lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(775-777)CAC>TAC		protein tyrosine phosphatase, receptor type, N							22.0	24.0	24.0					2																	220167078		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167078G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.775C>T	2.37:g.220167078G>A	ENSP00000295718:p.His259Tyr					PTPRN_uc010zlc.1_Missense_Mutation_p.H169Y|PTPRN_uc002vla.2_Missense_Mutation_p.H259Y	p.H259Y	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	6	864	-		Renal(207;0.0474)	259			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.775C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582456	0.46006	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03524	3.9;3.93;3.92	4.85	4.85	0.62838	.	0.185006	0.34245	N	0.004131	T	0.02688	0.0081	N	0.24115	0.695	0.35558	D	0.804424	P;P	0.42827	0.791;0.627	B;B	0.35114	0.196;0.139	T	0.51204	-0.8735	10	0.07482	T	0.82	.	15.9277	0.79632	0.0:0.0:1.0:0.0	.	259;259	Q6NSL1;Q16849	.;PTPRN_HUMAN	Y	259;259;259;169	ENSP00000386638:H259Y;ENSP00000295718:H259Y;ENSP00000444244:H169Y	ENSP00000295718:H259Y	H	-	1	0	PTPRN	219875322	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	2.184000	0.42575	2.514000	0.84764	0.561000	0.74099	CAC		PASS	0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			8	14	8	14	---	---	---	---
GPR55	9290	broad.mit.edu	37	2	231775189	231775189	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:231775189C>A	ENST00000392040.1	-	2	681	c.489G>T	c.(487-489)gtG>gtT	p.V163V	GPR55_ENST00000392039.2_Silent_p.V163V|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	163					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.V163V(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TGTATTTTTCCACTTTCCCAT	0.542																																						uc002vrg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(487-489)GTG>GTT		G protein-coupled receptor 55							112.0	117.0	115.0					2																	231775189		2203	4300	6503	SO:0001819	synonymous_variant	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775189C>A	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.489G>T	2.37:g.231775189C>A						GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.V163V	p.V163V	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	682	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	163			Extracellular (Potential).		Q8N580	Silent	SNP	ENST00000392040.1	37	c.489G>T	CCDS2480.1																																																																																				PASS	0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		24	55	24	55	---	---	---	---
AQP12A	375318	broad.mit.edu	37	2	241631698	241631698	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:241631698C>A	ENST00000337801.4	+	2	400	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Missense_Mutation_p.Q123K	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	111						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.Q111K(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCTGGGCATGCAGGCCGCCTG	0.687																																						uc002vzu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)CAG>AAG		aquaporin 12A							21.0	31.0	27.0					2																	241631698		2092	4253	6345	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631698C>A	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.331C>A	2.37:g.241631698C>A	ENSP00000337144:p.Gln111Lys					AQP12A_uc002vzv.2_RNA	p.Q111K	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	400	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	111			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000337801.4	37	c.331C>A		.	.	.	.	.	.	.	.	.	.	.	0.015	-1.561351	0.00903	.	.	ENSG00000184945	ENST00000337801;ENST00000373309;ENST00000429564;ENST00000420599	T;T	0.11063	2.81;2.81	2.5	-1.38	0.09027	Aquaporin-like (2);	1.508160	0.03284	N	0.186621	T	0.08268	0.0206	L	0.31294	0.92	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.35176	-0.9799	10	0.29301	T	0.29	-3.2524	4.9219	0.13874	0.3681:0.2683:0.3636:0.0	.	111	Q8IXF9	AQ12A_HUMAN	K	111;49;123;96	ENSP00000337144:Q111K;ENSP00000405899:Q123K	ENSP00000337144:Q111K	Q	+	1	0	AQP12A	241280371	0.002000	0.14202	0.002000	0.10522	0.129000	0.20672	0.823000	0.27366	-0.043000	0.13513	0.074000	0.15403	CAG		PASS	0.687	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		16	28	16	28	---	---	---	---
CCR5	1234	broad.mit.edu	37	3	46414528	46414528	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:46414528T>C	ENST00000292303.4	+	2	281	c.135T>C	c.(133-135)ttT>ttC	p.F45F	CCR5_ENST00000343801.4_Silent_p.F45F|CCR5_ENST00000445772.1_Silent_p.F45F|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	45					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.F45F(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCTTTGGTTTTGTGGGCAACA	0.478																																						uc003cpo.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(133-135)TTT>TTC		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						208.0	189.0	195.0					3																	46414528		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414528T>C		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.135T>C	3.37:g.46414528T>C						CCR5_uc010hjd.2_Silent_p.F45F	p.F45F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	257	+			45			Helical; Name=1; (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.135T>C	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	T	1.114	-0.657183	0.03480	.	.	ENSG00000160791	ENST00000400886	.	.	.	5.42	-8.47	0.00939	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.50684	-0.8799	5	0.87932	D	0	.	5.805	0.18434	0.0729:0.3404:0.1086:0.478	.	.	.	.	R	27	.	ENSP00000383680:C27R	C	+	1	0	CCR5	46389532	0.000000	0.05858	0.008000	0.14137	0.264000	0.26372	-3.950000	0.00327	-1.481000	0.01863	-0.411000	0.06167	TGT		PASS	0.478	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		52	39	52	39	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868652	97868652	+	Silent	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:97868652C>T	ENST00000437310.1	+	1	483	c.423C>T	c.(421-423)tgC>tgT	p.C141C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C141C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGGACTGTGCATCCGGCTAT	0.388																																						uc003dsg.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(421-423)TGC>TGT		olfactory receptor, family 5, subfamily H,							115.0	119.0	118.0					3																	97868652		2202	4299	6501	SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868652C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.423C>T	3.37:g.97868652C>T							p.C141C	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	423	+			141			Cytoplasmic (Potential).		B9EH15	Silent	SNP	ENST00000437310.1	37	c.423C>T	CCDS33798.1																																																																																				PASS	0.388	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			47	152	47	152	---	---	---	---
DIRC2	84925	broad.mit.edu	37	3	122525799	122525799	+	Splice_Site	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:122525799T>C	ENST00000261038.5	+	2	835		c.e2+2			NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2						transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.?(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TAAAAGAAGGTAAATCCTGTA	0.328																																						uc003efw.3																			1	Unknown(1)		lung(1)		0						c.e2+2		disrupted in renal carcinoma 2							98.0	91.0	93.0					3																	122525799		2203	4299	6502	SO:0001630	splice_region_variant	84925				transport	integral to membrane		g.chr3:122525799T>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.437+2T>C	3.37:g.122525799T>C						DIRC2_uc010hrl.2_Splice_Site|DIRC2_uc010hrm.2_Intron	p.R146_splice	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	2	576	+								A8K561|Q8NBX9	Splice_Site	SNP	ENST00000261038.5	37	c.437_splice	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284088	0.59867	.	.	ENSG00000138463	ENST00000261038	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8221	0.46610	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIRC2	124008489	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	4.033000	0.57282	2.046000	0.60703	0.450000	0.29827	.		PASS	0.328	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839	Intron	25	24	25	24	---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134251738	134251738	+	Missense_Mutation	SNP	T	T	C	rs145156085	byFrequency	TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:134251738T>C	ENST00000337090.3	+	5	610	c.437T>C	c.(436-438)aTa>aCa	p.I146T	CEP63_ENST00000332047.5_Missense_Mutation_p.I146T|CEP63_ENST00000513612.2_Missense_Mutation_p.I146T|CEP63_ENST00000354446.3_Missense_Mutation_p.I146T|CEP63_ENST00000606977.1_Missense_Mutation_p.I146T|CEP63_ENST00000383229.3_Missense_Mutation_p.I146T			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	146					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.I146T(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGCAAAAATAGAGGTATGT	0.358																																						uc003eqo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)ATA>ACA		centrosomal protein 63 isoform a		T	THR/ILE,THR/ILE,THR/ILE,THR/ILE	1,4405	2.1+/-5.4	0,1,2202	105.0	115.0	111.0		437,437,437,437	5.8	1.0	3	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CEP63	NM_001042383.1,NM_001042384.1,NM_001042400.1,NM_025180.3	89,89,89,89	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	146/496,146/476,146/542,146/704	134251738	2,13004	2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134251738T>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.437T>C	3.37:g.134251738T>C	ENSP00000336524:p.Ile146Thr					CEP63_uc003eql.1_Missense_Mutation_p.I146T|CEP63_uc003eqm.2_Missense_Mutation_p.I146T|CEP63_uc003eqn.1_Missense_Mutation_p.I146T	p.I146T	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			6	886	+			146			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.437T>C	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.61|16.61	3.170957|3.170957	0.57584|0.57584	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000513612|ENST00000508778	T;T;T;T;T;T|.	0.22336|.	2.06;2.06;2.06;1.96;2.06;1.96|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.243896|.	0.37012|.	N|.	0.002288|.	T|.	0.71178|.	0.3309|.	M|M	0.64997|0.64997	1.995|1.995	0.41148|0.41148	D|D	0.986007|0.986007	P;P;P;P|.	0.47762|.	0.688;0.9;0.9;0.493|.	B;B;B;B|.	0.39840|.	0.165;0.311;0.299;0.178|.	T|.	0.70995|.	-0.4720|.	10|.	0.72032|.	D|.	0.01|.	-12.2788|-12.2788	14.7013|14.7013	0.69157|0.69157	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	146;146;146;146|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	T|Q	146|71	ENSP00000328382:I146T;ENSP00000346432:I146T;ENSP00000424626:I146T;ENSP00000336524:I146T;ENSP00000372716:I146T;ENSP00000426129:I146T|.	ENSP00000328382:I146T|.	I|X	+|+	2|1	0|0	CEP63|CEP63	135734428|135734428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.660000|5.660000	0.68018|0.68018	2.218000|2.218000	0.71995|0.71995	0.533000|0.533000	0.62120|0.62120	ATA|TAG		PASS	0.358	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		14	21	14	21	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165504057	165504057	+	Silent	SNP	G	G	A	rs533603961		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:165504057G>A	ENST00000264381.3	-	3	1726	c.1560C>T	c.(1558-1560)gtC>gtT	p.V520V	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	520					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.V520V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TGCTTTTGAAGACAGGCCAGC	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		16368	0.0		0.0	False		,,,				2504	0.001					uc003fem.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1558-1560)GTC>GTT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						142.0	129.0	134.0					3																	165504057		2203	4300	6503	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165504057G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1560C>T	3.37:g.165504057G>A						BCHE_uc003fen.3_RNA	p.V520V	NM_000055	NP_000046	P06276	CHLE_HUMAN			3	1720	-			520					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.1560C>T	CCDS3198.1																																																																																				PASS	0.318	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			14	58	14	58	---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172534584	172534584	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:172534584A>C	ENST00000392692.3	+	24	2788	c.2612A>C	c.(2611-2613)gAt>gCt	p.D871A	ECT2_ENST00000417960.1_Missense_Mutation_p.D839A|ECT2_ENST00000232458.5_Missense_Mutation_p.D840A|ECT2_ENST00000540509.1_Missense_Mutation_p.D871A|ECT2_ENST00000427830.1_Missense_Mutation_p.D840A|ECT2_ENST00000441497.2_Missense_Mutation_p.D840A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	871					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.D840A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCCAGCAATGATAAGCATGTA	0.388																																						uc003fii.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(2518-2520)GAT>GCT		epithelial cell transforming sequence 2 oncogene							131.0	128.0	129.0					3																	172534584		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172534584A>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2612A>C	3.37:g.172534584A>C	ENSP00000376457:p.Asp871Ala					ECT2_uc003fih.2_Missense_Mutation_p.D839A|ECT2_uc003fij.1_Missense_Mutation_p.D840A|ECT2_uc003fik.1_Missense_Mutation_p.D840A|ECT2_uc003fil.1_Missense_Mutation_p.D871A|ECT2_uc003fim.1_Missense_Mutation_p.D139A	p.D840A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		23	2657	+	Ovarian(172;0.00197)|Breast(254;0.158)		840					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.2519A>C	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.547|5.547	0.285830|0.285830	0.10513|0.10513	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.63255|.	-0.0;-0.01;-0.03;-0.0;-0.0;-0.01|.	5.58|5.58	4.43|4.43	0.53597|0.53597	.|.	0.617333|.	0.18585|.	N|.	0.136897|.	T|.	0.49236|.	0.1545|.	L|L	0.40543|0.40543	1.245|1.245	0.34467|0.34467	D|D	0.702439|0.702439	B;B;B;B;B|.	0.18968|.	0.004;0.0;0.032;0.032;0.014|.	B;B;B;B;B|.	0.22386|.	0.005;0.0;0.039;0.039;0.012|.	T|.	0.58002|.	-0.7713|.	10|.	0.23891|.	T|.	0.37|.	-2.7243|-2.7243	9.7876|9.7876	0.40686|0.40686	0.9165:0.0:0.0835:0.0|0.9165:0.0:0.0835:0.0	.|.	871;316;871;840;839|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	A|C	840;871;840;839;840;871|210	ENSP00000232458:D840A;ENSP00000376457:D871A;ENSP00000401910:D840A;ENSP00000415876:D839A;ENSP00000412259:D840A;ENSP00000443160:D871A|.	ENSP00000232458:D840A|.	D|X	+|+	2|3	0|0	ECT2|ECT2	174017278|174017278	0.999000|0.999000	0.42202|0.42202	0.485000|0.485000	0.27403|0.27403	0.064000|0.064000	0.16182|0.16182	4.288000|4.288000	0.59007|0.59007	0.971000|0.971000	0.38288|0.38288	0.459000|0.459000	0.35465|0.35465	GAT|TGA		PASS	0.388	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		33	113	33	113	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179754368	179754368	+	Splice_Site	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:179754368T>A	ENST00000467460.1	-	1	350	c.20A>T	c.(19-21)cAg>cTg	p.Q7L	PEX5L_ENST00000263962.8_Splice_Site_p.Q7L|PEX5L_ENST00000465751.1_Splice_Site_p.Q7L|PEX5L_ENST00000472994.1_Splice_Site_p.Q7L|PEX5L_ENST00000485199.1_Splice_Site_p.Q7L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	7					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.Q7L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATGTCTTACCTGCATGTGTCC	0.522																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(19-21)CAG>CTG		peroxisomal biogenesis factor 5-like							165.0	169.0	168.0					3																	179754368		2203	4300	6503	SO:0001630	splice_region_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179754368T>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.21+1A>T	3.37:g.179754368T>A						PEX5L_uc003fkj.1_Missense_Mutation_p.Q7L|PEX5L_uc010hxd.1_Missense_Mutation_p.Q7L|PEX5L_uc011bqg.1_Missense_Mutation_p.Q7L|PEX5L_uc011bqh.1_Missense_Mutation_p.Q7L	p.Q7L	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		1	150	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		7					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.20A>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071096	0.55646	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000472994;ENST00000465751	D;D;D;D;D	0.91686	-2.28;-2.3;-2.89;-2.45;-2.2	5.0	5.0	0.66597	.	0.745959	0.11494	N	0.558365	D	0.91102	0.7199	N	0.08118	0	0.80722	D	1	B;P;P;P;P	0.42039	0.058;0.659;0.597;0.769;0.659	B;P;B;P;P	0.61397	0.022;0.775;0.173;0.888;0.775	D	0.89619	0.3847	10	0.72032	D	0.01	-0.9514	12.4526	0.55684	0.0:0.0:0.0:1.0	.	7;7;7;7;7	E7EUZ0;E9PH97;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;PEX5R_HUMAN	L	7	ENSP00000419975:Q7L;ENSP00000263962:Q7L;ENSP00000418440:Q7L;ENSP00000418054:Q7L;ENSP00000419348:Q7L	ENSP00000263962:Q7L	Q	-	2	0	PEX5L	181237062	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.411000	0.59781	1.867000	0.54127	0.533000	0.62120	CAG		PASS	0.522	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	Missense_Mutation	38	173	38	173	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183975455	183975455	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr3:183975455G>T	ENST00000402825.3	+	2	391	c.391G>T	c.(391-393)Ggc>Tgc	p.G131C	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.G131C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	131	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.G131C(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCGAGAAGGGCACGCTGGA	0.617																																						uc003fni.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(391-393)GGC>TGC		endothelin converting enzyme 2 isoform A							60.0	58.0	59.0					3																	183975455		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183975455G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.391G>T	3.37:g.183975455G>T	ENSP00000384223:p.Gly131Cys					ECE2_uc003fnh.3_Missense_Mutation_p.G131C	p.G131C	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	429	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		131			Cytoplasmic (Potential).|Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.391G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010012	0.93346	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.67698	-0.28;-0.28	5.99	5.99	0.97316	Methyltransferase type 11 (1);	.	.	.	.	D	0.82309	0.5009	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82770	-0.0293	9	0.87932	D	0	-15.7634	19.4659	0.94939	0.0:0.0:1.0:0.0	.	131;131	O60344;O60344-4	ECE2_HUMAN;.	C	131	ENSP00000314295:G131C;ENSP00000384223:G131C	ENSP00000314295:G131C	G	+	1	0	ECE2	185458149	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.692000	0.91284	2.840000	0.97914	0.655000	0.94253	GGC		PASS	0.617	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		11	61	11	61	---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2306729	2306729	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:2306729C>A	ENST00000290974.2	-	8	1677	c.1338G>T	c.(1336-1338)ggG>ggT	p.G446G	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.G376G|ZFYVE28_ENST00000511071.1_Silent_p.G416G	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	446					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.G446G(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCAAGCTGATCCCCGCCGCTC	0.687																																						uc003gex.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1336-1338)GGG>GGT		zinc finger, FYVE domain containing 28							42.0	43.0	43.0					4																	2306729		2166	4239	6405	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306729C>A	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.1338G>T	4.37:g.2306729C>A						ZFYVE28_uc011bvk.1_Silent_p.G376G|ZFYVE28_uc011bvl.1_Silent_p.G416G|ZFYVE28_uc003gew.1_Silent_p.G332G	p.G446G	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1657	-			446					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1338G>T	CCDS33942.1																																																																																				PASS	0.687	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		14	28	14	28	---	---	---	---
HADH	3033	broad.mit.edu	37	4	108940716	108940716	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:108940716A>G	ENST00000309522.3	+	4	589	c.440A>G	c.(439-441)aAc>aGc	p.N147S	HADH_ENST00000454409.2_Missense_Mutation_p.N151S|HADH_ENST00000603302.1_Missense_Mutation_p.N147S|HADH_ENST00000403312.1_Missense_Mutation_p.N206S|HADH_ENST00000505878.1_Missense_Mutation_p.N151S	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	475					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.N147S(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		TTTGCCAGCAACACTTCCTCC	0.438																																						uc003hyq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(439-441)AAC>AGC		L-3-hydroxyacyl-Coenzyme A dehydrogenase	NADH(DB00157)						156.0	147.0	150.0					4																	108940716		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108940716A>G	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.440A>G	4.37:g.108940716A>G	ENSP00000312288:p.Asn147Ser					HADH_uc010ilx.2_Missense_Mutation_p.N147S|HADH_uc010ily.2_5'UTR|HADH_uc003hyr.2_Missense_Mutation_p.N151S	p.N147S	NM_005327	NP_005318	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	4	589	+		Hepatocellular(203;0.217)	147					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.440A>G	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675956	0.88445	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.78707	-1.2;-1.2;-1.2	5.37	5.37	0.77165	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.961	D	0.94934	0.8085	10	0.87932	D	0	-47.8154	15.3845	0.74687	1.0:0.0:0.0:0.0	.	206;151;147	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	S	147;147;151;151	ENSP00000312288:N147S;ENSP00000425952:N151S;ENSP00000395167:N151S	ENSP00000312288:N147S	N	+	2	0	HADH	109160165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.028000	0.59812	0.533000	0.62120	AAC		PASS	0.438	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		4	87	4	87	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073843	134073843	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:134073843C>T	ENST00000264360.5	+	1	3374	c.2548C>T	c.(2548-2550)Cac>Tac	p.H850Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	850					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H850Y(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)		GGACACTGAGCACAACCCCTG	0.557																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2548-2550)CAC>TAC		protocadherin 10 isoform 1 precursor							88.0	81.0	83.0					4																	134073843		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073843C>T	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.2548C>T	4.37:g.134073843C>T	ENSP00000264360:p.His850Tyr					PCDH10_uc003igz.2_Missense_Mutation_p.H850Y	p.H850Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3374	+			850			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2548C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282304	0.59867	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55760	0.5	5.13	5.13	0.70059	.	0.000000	0.47852	D	0.000211	T	0.54255	0.1847	L	0.46157	1.445	0.58432	D	0.999993	P;D	0.54047	0.627;0.964	B;P	0.46275	0.142;0.51	T	0.59563	-0.7431	10	0.59425	D	0.04	.	18.2039	0.89848	0.0:1.0:0.0:0.0	.	850;850	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Y	850	ENSP00000264360:H850Y	ENSP00000264360:H850Y	H	+	1	0	PCDH10	134293293	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.882000	0.48546	2.387000	0.81309	0.650000	0.86243	CAC		PASS	0.557	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	5	9	5	---	---	---	---
FGB	2244	broad.mit.edu	37	4	155487721	155487721	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:155487721G>C	ENST00000302068.4	+	3	450	c.387G>C	c.(385-387)gaG>gaC	p.E129D	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	129					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.E129D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGTTGATGAGTTAAATAACA	0.418																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(385-387)GAG>GAC		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						167.0	156.0	160.0					4																	155487721		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487721G>C		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.387G>C	4.37:g.155487721G>C	ENSP00000306099:p.Glu129Asp					FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.E126D|FGB_uc010ipv.2_Missense_Mutation_p.E67D|FGB_uc010ipw.2_Missense_Mutation_p.E126D|FGB_uc003ioc.3_Intron	p.E129D	NM_005141	NP_005132	P02675	FIBB_HUMAN			3	426	+	all_hematologic(180;0.215)	Renal(120;0.0458)	129					A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.387G>C	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	1.164	-0.642845	0.03531	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.81821	-1.54	5.27	0.149	0.14863	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.423027	0.29280	N	0.012618	T	0.59528	0.2200	N	0.21194	0.64	0.19575	N	0.999968	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34576	-0.9823	10	0.13470	T	0.59	.	4.8987	0.13764	0.1713:0.0:0.3027:0.526	.	112;129	B4E1D3;P02675	.;FIBB_HUMAN	D	129;112	ENSP00000306099:E129D	ENSP00000306099:E129D	E	+	3	2	FGB	155707171	0.099000	0.21834	0.141000	0.22245	0.039000	0.13416	-0.275000	0.08525	0.284000	0.22305	0.650000	0.86243	GAG		PASS	0.418	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		28	15	28	15	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393493	164393493	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:164393493G>C	ENST00000280605.3	-	1	1554	c.1394C>G	c.(1393-1395)gCc>gGc	p.A465G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	465						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A465D(1)|p.A465G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTATTGGCGGCTAGATAAAT	0.463																																						uc003iqp.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)	5						c.(1393-1395)GCC>GGC		transketolase-like 2							95.0	100.0	98.0					4																	164393493		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393493G>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1394C>G	4.37:g.164393493G>C	ENSP00000280605:p.Ala465Gly						p.A465G	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1555	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	465					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1394C>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663440	0.47572	.	.	ENSG00000151005	ENST00000280605	D	0.93659	-3.26	4.15	4.15	0.48705	Transketolase-like, pyrimidine-binding domain (2);	0.215998	0.36444	N	0.002592	D	0.95198	0.8443	M	0.93462	3.42	0.58432	D	0.999999	B	0.25609	0.13	B	0.33121	0.158	D	0.94871	0.8030	10	0.54805	T	0.06	-14.6776	14.7378	0.69430	0.0:0.0:1.0:0.0	.	465	Q9H0I9	TKTL2_HUMAN	G	465	ENSP00000280605:A465G	ENSP00000280605:A465G	A	-	2	0	TKTL2	164612943	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	9.202000	0.95026	2.611000	0.88343	0.650000	0.86243	GCC		PASS	0.463	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		21	21	21	21	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178274865	178274865	+	Missense_Mutation	SNP	C	C	G	rs375583905		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:178274865C>G	ENST00000264596.3	+	8	1561	c.1443C>G	c.(1441-1443)aaC>aaG	p.N481K	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	481					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.N481K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAAGCTGCAACCCTGGATATT	0.353								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1441-1443)AAC>AAG	BER_DNA_glycosylases	nei endonuclease VIII-like 3							65.0	64.0	64.0					4																	178274865		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178274865C>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1443C>G	4.37:g.178274865C>G	ENSP00000264596:p.Asn481Lys					NEIL3_uc010irs.2_3'UTR	p.N481K	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	8	1560	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	481					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1443C>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	0.791	-0.758717	0.03019	.	.	ENSG00000109674	ENST00000264596	T	0.03860	3.78	5.09	2.36	0.29203	.	1.073720	0.07027	N	0.827796	T	0.06781	0.0173	M	0.62723	1.935	0.22017	N	0.999412	B	0.02656	0.0	B	0.01281	0.0	T	0.42982	-0.9419	10	0.37606	T	0.19	-0.9797	4.0359	0.09729	0.1475:0.4275:0.3383:0.0868	.	481	Q8TAT5	NEIL3_HUMAN	K	481	ENSP00000264596:N481K	ENSP00000264596:N481K	N	+	3	2	NEIL3	178511859	0.001000	0.12720	0.159000	0.22649	0.637000	0.38172	0.140000	0.16056	0.291000	0.22468	0.557000	0.71058	AAC		PASS	0.353	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		8	17	8	17	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183714330	183714330	+	Missense_Mutation	SNP	C	C	T	rs267600105		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:183714330C>T	ENST00000511685.1	+	26	6628	c.6505C>T	c.(6505-6507)Cgt>Tgt	p.R2169C	TENM3_ENST00000406950.2_Missense_Mutation_p.R2169C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2169					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2169C(1)									TAACAGTGCGCGTCTGACACC	0.473																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(6505-6507)CGT>TGT		odz, odd Oz/ten-m homolog 3							124.0	121.0	122.0					4																	183714330		2015	4176	6191	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714330C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6505C>T	4.37:g.183714330C>T	ENSP00000424226:p.Arg2169Cys						p.R2169C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6542	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2169			Extracellular (Potential).|YD 19.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6505C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376389	0.24857	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87334	-2.24;-2.24	4.75	4.75	0.60458	.	.	.	.	.	D	0.93517	0.7931	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94242	0.7486	9	0.87932	D	0	.	12.9818	0.58568	0.1614:0.8386:0.0:0.0	.	2169	Q9P273	TEN3_HUMAN	C	2169	ENSP00000424226:R2169C;ENSP00000385276:R2169C	ENSP00000385276:R2169C	R	+	1	0	ODZ3	183951324	0.990000	0.36364	0.090000	0.20809	0.051000	0.14879	2.904000	0.48719	2.460000	0.83146	0.455000	0.32223	CGT		PASS	0.473	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			24	30	24	30	---	---	---	---
MTNR1A	4543	broad.mit.edu	37	4	187455106	187455106	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:187455106C>A	ENST00000307161.5	-	2	991	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	264					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)	p.D264Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTGGCGGGGTCAGAGGCCACG	0.512																																						uc003izd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(790-792)GAC>TAC		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						74.0	80.0	78.0					4																	187455106		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455106C>A		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.790G>T	4.37:g.187455106C>A	ENSP00000302811:p.Asp264Tyr						p.D264Y	NM_005958	NP_005949	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	808	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	264			Extracellular (Potential).		A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.790G>T	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	3.210	-0.161877	0.06502	.	.	ENSG00000168412	ENST00000307161	T	0.72282	-0.64	4.96	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.410373	0.28760	N	0.014232	T	0.62768	0.2455	L	0.49571	1.57	0.09310	N	1	B	0.18610	0.029	B	0.24848	0.056	T	0.56950	-0.7894	10	0.52906	T	0.07	-13.6781	9.1377	0.36883	0.0:0.6331:0.0:0.3668	.	264	P48039	MTR1A_HUMAN	Y	264	ENSP00000302811:D264Y	ENSP00000302811:D264Y	D	-	1	0	MTNR1A	187692100	0.433000	0.25562	0.219000	0.23793	0.020000	0.10135	0.651000	0.24873	0.505000	0.28104	0.655000	0.94253	GAC		PASS	0.512	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			22	35	22	35	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5146247	5146247	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:5146247T>C	ENST00000274181.7	+	3	318	c.180T>C	c.(178-180)taT>taC	p.Y60Y	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Silent_p.Y60Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	60					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y60Y(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						TTTCAGAATATGACCTGGTCT	0.473																																						uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(178-180)TAT>TAC		ADAM metallopeptidase with thrombospondin type 1							46.0	44.0	45.0					5																	5146247		1969	4144	6113	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146247T>C	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.180T>C	5.37:g.5146247T>C						ADAMTS16_uc003jdk.1_Silent_p.Y60Y|ADAMTS16_uc003jdj.1_Silent_p.Y60Y	p.Y60Y	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	318	+			60					C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.180T>C	CCDS43299.1																																																																																				PASS	0.473	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		16	38	16	38	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11346508	11346508	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:11346508A>G	ENST00000304623.8	-	9	1793	c.1604T>C	c.(1603-1605)aTt>aCt	p.I535T	CTNND2_ENST00000359640.2_Missense_Mutation_p.I535T|CTNND2_ENST00000503622.1_Missense_Mutation_p.I198T|CTNND2_ENST00000458100.2_Missense_Mutation_p.I102T|CTNND2_ENST00000511377.1_Missense_Mutation_p.I444T|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	535					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I535T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AATGCTATCAATGGACGGGGA	0.488																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1603-1605)ATT>ACT		catenin (cadherin-associated protein), delta 2							86.0	95.0	92.0					5																	11346508		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346508A>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1604T>C	5.37:g.11346508A>G	ENSP00000307134:p.Ile535Thr					CTNND2_uc010itt.2_Missense_Mutation_p.I444T|CTNND2_uc011cmy.1_Missense_Mutation_p.I198T|CTNND2_uc011cmz.1_Missense_Mutation_p.I102T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I102T	p.I535T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1749	-			535					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1604T>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550954	0.65311	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79352	-1.16;-1.26;-1.16;-1.24;-1.21	5.68	5.68	0.88126	.	0.233781	0.37261	N	0.002175	T	0.74168	0.3681	L	0.57536	1.79	0.41663	D	0.989195	B;B;P	0.38922	0.044;0.018;0.651	B;B;B	0.33521	0.024;0.016;0.165	T	0.78505	-0.2178	10	0.87932	D	0	-8.7693	15.9723	0.80031	1.0:0.0:0.0:0.0	.	198;102;535	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	T	535;535;444;102;198	ENSP00000307134:I535T;ENSP00000352661:I535T;ENSP00000426510:I444T;ENSP00000391155:I102T;ENSP00000426887:I198T	ENSP00000307134:I535T	I	-	2	0	CTNND2	11399508	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	8.923000	0.92808	2.175000	0.68902	0.477000	0.44152	ATT		PASS	0.488	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		22	64	22	64	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492942	24492942	+	Silent	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:24492942T>A	ENST00000264463.4	-	10	2115	c.1608A>T	c.(1606-1608)acA>acT	p.T536T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	536	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.T536T(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCCTGTACTGTGAAGTTTG	0.348										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1606-1608)ACA>ACT		cadherin 10, type 2 preproprotein							160.0	171.0	168.0					5																	24492942		2203	4298	6501	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492942T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1608A>T	5.37:g.24492942T>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.T536T	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	1940	-			536			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1608A>T	CCDS3892.1																																																																																				PASS	0.348	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		89	97	89	97	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852400	40852400	+	Silent	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:40852400A>T	ENST00000254691.5	+	3	1165	c.966A>T	c.(964-966)ccA>ccT	p.P322P	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	322					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.P322P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTGAGAGTCCAGGAGACTTAG	0.443																																						uc003jmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(964-966)CCA>CCT		caspase recruitment domain family, member 6							66.0	65.0	65.0					5																	40852400		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852400A>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.966A>T	5.37:g.40852400A>T							p.P322P	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1041	+			322					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.966A>T	CCDS3935.1																																																																																				PASS	0.443	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			25	30	25	30	---	---	---	---
GIN1	54826	broad.mit.edu	37	5	102433118	102433118	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:102433118T>C	ENST00000399004.2	-	6	1002	c.908A>G	c.(907-909)cAt>cGt	p.H303R	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	303					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.H303R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ATCCACTTCATGAAGACTATC	0.323																																						uc003koa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(907-909)CAT>CGT		zinc finger, H2C2 domain containing							115.0	113.0	114.0					5																	102433118		1817	4077	5894	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102433118T>C	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.908A>G	5.37:g.102433118T>C	ENSP00000381970:p.His303Arg					GIN1_uc003kob.1_Missense_Mutation_p.H156R|GIN1_uc003koc.1_Intron	p.H303R	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	6	990	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	303					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.908A>G	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	T	5.611	0.297557	0.10622	.	.	ENSG00000145723	ENST00000399004	T	0.17213	2.29	5.91	0.876	0.19138	.	1.244490	0.05615	N	0.578815	T	0.06188	0.0160	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	10	0.13108	T	0.6	-12.0706	1.4364	0.02345	0.1367:0.227:0.126:0.5103	.	303	Q9NXP7	GIN1_HUMAN	R	303	ENSP00000381970:H303R	ENSP00000381970:H303R	H	-	2	0	GIN1	102461017	0.001000	0.12720	0.018000	0.16275	0.925000	0.55904	0.125000	0.15749	0.133000	0.18654	0.528000	0.53228	CAT		PASS	0.323	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		48	33	48	33	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692755	135692755	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:135692755C>A	ENST00000513104.1	-	2	603	c.321G>T	c.(319-321)ggG>ggT	p.G107G	TRPC7_ENST00000355180.3_Silent_p.G107G|TRPC7_ENST00000426057.2_Silent_p.G107G	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	107					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G107G(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCGCGTCCCCCACCCGTG	0.662																																						uc003lbn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(316-318)GGG>GGT		transient receptor potential cation channel,							56.0	65.0	62.0					5																	135692755		2203	4300	6503	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692755C>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.321G>T	5.37:g.135692755C>A						TRPC7_uc010jef.1_Silent_p.G98G|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.G98G|TRPC7_uc010jei.1_Silent_p.G98G|TRPC7_uc010jej.1_5'UTR	p.G106G	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	321	-			107			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.318G>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	7.974	0.749771	0.15778	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.0	-4.51	0.03483	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.8248	2.6043	0.04874	0.0942:0.3462:0.215:0.3447	.	.	.	.	X	107	.	ENSP00000330322:G107X	G	-	1	0	TRPC7	135720654	0.001000	0.12720	0.962000	0.40283	0.968000	0.65278	-1.558000	0.02164	-0.653000	0.05401	-0.367000	0.07326	GGA		PASS	0.662	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		18	13	18	13	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557																																						uc003lhf.2																			4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(2)	8						c.(289-291)GGG>CGG		protocadherin alpha 3 isoform 1 precursor							129.0	144.0	139.0					5																	140181071		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181071G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.289G>C	5.37:g.140181071G>C	ENSP00000429808:p.Gly97Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R	p.G97R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+			97			Cadherin 1.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.289G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.668997	0.29604	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.30981	1.51;1.51	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.171277	0.26840	U	0.022223	T	0.46425	0.1392	M	0.71206	2.165	0.23249	N	0.998041	P;P	0.51057	0.941;0.686	P;P	0.54270	0.747;0.49	T	0.39143	-0.9628	10	0.52906	T	0.07	.	13.3391	0.60535	0.0:0.1587:0.8413:0.0	.	97;97	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	97	ENSP00000429808:G97R;ENSP00000434086:G97R	ENSP00000429808:G97R	G	+	1	0	PCDHA3	140161255	0.456000	0.25744	1.000000	0.80357	0.357000	0.29423	1.966000	0.40481	2.228000	0.72767	0.467000	0.42956	GGG		PASS	0.557	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	116	4	116	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140530850	140530850	+	Missense_Mutation	SNP	G	G	T	rs17844433		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:140530850G>T	ENST00000231136.1	+	1	1012	c.1012G>T	c.(1012-1014)Gtg>Ttg	p.V338L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V202L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V338L(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCTGGACGTGAATGACAA	0.463																																						uc003lir.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1012-1014)GTG>TTG		protocadherin beta 6 precursor							100.0	97.0	98.0					5																	140530850		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530850G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1012G>T	5.37:g.140530850G>T	ENSP00000231136:p.Val338Leu					PCDHB6_uc011dah.1_Missense_Mutation_p.V202L	p.V338L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1012	+			338			Cadherin 3.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1012G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266119	0.10294	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.45668	0.89;0.89	4.97	1.94	0.25998	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.35278	0.0926	L	0.45581	1.43	0.20764	N	0.99986	B	0.24533	0.105	B	0.29267	0.1	T	0.31752	-0.9932	9	0.45353	T	0.12	.	7.0058	0.24836	0.2137:0.0:0.6642:0.1221	.	338	Q9Y5E3	PCDB6_HUMAN	L	202;338;123	ENSP00000438466:V202L;ENSP00000231136:V338L	ENSP00000231136:V338L	V	+	1	0	PCDHB6	140511034	0.001000	0.12720	0.659000	0.29680	0.099000	0.18886	0.196000	0.17176	0.570000	0.29347	0.643000	0.83706	GTG		PASS	0.463	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		18	19	18	19	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149502632	149502632	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:149502632G>A	ENST00000261799.4	-	15	2625	c.2156C>T	c.(2155-2157)gCt>gTt	p.A719V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.A719V(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACGGGCAGAGCATTGCTGTA	0.632			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2155-2157)GCT>GTT		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						90.0	92.0	91.0					5																	149502632		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149502632G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2156C>T	5.37:g.149502632G>A	ENSP00000261799:p.Ala719Val					PDGFRB_uc010jhd.2_Missense_Mutation_p.A558V	p.A719V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2625	-		all_hematologic(541;0.224)	719			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2156C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517627	0.44763	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75589	-0.95	3.54	3.54	0.40534	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.280598	0.25405	N	0.030914	T	0.62097	0.2400	L	0.31476	0.935	0.36449	D	0.865989	B;P	0.38395	0.43;0.629	B;B	0.37731	0.257;0.257	T	0.64462	-0.6402	10	0.12430	T	0.62	.	16.3947	0.83586	0.0:0.0:1.0:0.0	.	719;719	A8KAM8;P09619	.;PGFRB_HUMAN	V	719;389	ENSP00000261799:A719V	ENSP00000261799:A719V	A	-	2	0	PDGFRB	149482825	0.980000	0.34600	0.585000	0.28666	0.089000	0.18198	3.288000	0.51739	2.275000	0.75901	0.561000	0.74099	GCT		PASS	0.632	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		31	26	31	26	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156533809	156533809	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:156533809C>A	ENST00000307851.4	-	2	953	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.V75L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	75	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V75L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATAATTCACATCCCTTTCA	0.532																																						uc003lwk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GTG>TTG		T cell immunoglobulin mucin 3 precursor							159.0	147.0	151.0					5																	156533809		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156533809C>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.223G>T	5.37:g.156533809C>A	ENSP00000312002:p.Val75Leu					HAVCR2_uc003lwl.2_Missense_Mutation_p.V75L	p.V75L	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	367	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	75			Ig-like V-type.|Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.223G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747998	0.30955	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.65364	-0.15;-0.15	5.48	-0.0984	0.13628	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.394203	0.21788	N	0.069117	T	0.46756	0.1409	L	0.41027	1.25	0.27955	N	0.936985	B;B	0.17268	0.021;0.001	B;B	0.12156	0.007;0.004	T	0.30851	-0.9964	10	0.34782	T	0.22	-6.8188	8.1125	0.30922	0.1405:0.6843:0.0968:0.0784	.	75;75	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	L	75	ENSP00000312002:V75L;ENSP00000430873:V75L	ENSP00000312002:V75L	V	-	1	0	HAVCR2	156466387	0.126000	0.22350	0.003000	0.11579	0.001000	0.01503	0.444000	0.21661	-0.253000	0.09514	-0.345000	0.07892	GTG		PASS	0.532	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			31	27	31	27	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178410074	178410074	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:178410074C>T	ENST00000517717.1	-	10	2311	c.2273G>A	c.(2272-2274)aGc>aAc	p.S758N	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.S758N			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	758					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.S758N(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GAGCAGGAGGCTGTAGCCCAG	0.612																																						uc003mjr.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(2272-2274)AGC>AAC		glutamate receptor, metabotropic 6 precursor							114.0	95.0	101.0					5																	178410074		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410074C>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.2273G>A	5.37:g.178410074C>T	ENSP00000430767:p.Ser758Asn					GRM6_uc003mjq.2_Missense_Mutation_p.S161N	p.S758N	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	2452	-	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)	758			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.2273G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693082	0.30052	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.87729	-2.29;-2.29	5.17	5.17	0.71159	GPCR, family 3, C-terminal (2);	.	.	.	.	T	0.75686	0.3883	N	0.10809	0.05	0.38320	D	0.943499	B;B	0.19200	0.034;0.034	B;B	0.25614	0.035;0.062	T	0.71702	-0.4513	9	0.24483	T	0.36	.	12.3015	0.54876	0.0:0.8292:0.1708:0.0	.	758;52	O15303;Q5HYM4	GRM6_HUMAN;.	N	758	ENSP00000231188:S758N;ENSP00000430767:S758N	ENSP00000231188:S758N	S	-	2	0	GRM6	178342680	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.865000	0.56033	2.587000	0.87381	0.305000	0.20034	AGC		PASS	0.612	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			7	25	7	25	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178410091	178410091	+	Silent	SNP	G	G	A	rs376987111		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr5:178410091G>A	ENST00000517717.1	-	10	2294	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.I752I			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>ATT		glutamate receptor, metabotropic 6 precursor		G		1,4405	2.1+/-5.4	0,1,2202	109.0	93.0	98.0		2256	-5.7	0.9	5		98	0,8600		0,0,4300	no	coding-synonymous	GRM6	NM_000843.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		752/878	178410091	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410091G>A	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>T	5.37:g.178410091G>A						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>T	CCDS4442.1																																																																																				PASS	0.632	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			15	21	15	21	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17764629	17764629	+	Silent	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:17764629G>A	ENST00000259711.6	-	39	5235	c.5130C>T	c.(5128-5130)agC>agT	p.S1710S	KIF13A_ENST00000378826.2_Silent_p.S1675S|KIF13A_ENST00000378816.5_Silent_p.S1675S|KIF13A_ENST00000378814.5_Silent_p.S1662S|KIF13A_ENST00000378843.2_Silent_p.S1662S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1710					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1710S(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCTGGCTGGCTAATTTTGC	0.517																																						uc003ncg.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(5128-5130)AGC>AGT		kinesin family member 13A isoform a							76.0	71.0	72.0					6																	17764629		1913	4132	6045	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764629G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5130C>T	6.37:g.17764629G>A						KIF13A_uc003ncf.2_Silent_p.S1662S|KIF13A_uc003nch.3_Silent_p.S1675S|KIF13A_uc003nci.3_Silent_p.S1662S|KIF13A_uc003nce.1_Silent_p.S261S	p.S1710S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		39	5235	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1710					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.5130C>T	CCDS47381.1																																																																																				PASS	0.517	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			18	28	18	28	---	---	---	---
ZNF311	282890	broad.mit.edu	37	6	28962782	28962782	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:28962782G>A	ENST00000377179.3	-	7	2509	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	666					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.A666V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTATACTCAGGCACTGGTCAA	0.413																																						uc003nlu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1996-1998)GCC>GTC		zinc finger protein 311							66.0	52.0	57.0					6																	28962782		1511	2709	4220	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28962782G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1997C>T	6.37:g.28962782G>A	ENSP00000366384:p.Ala666Val					ZNF311_uc011dlk.1_Missense_Mutation_p.A574V|ZNF311_uc003nlv.2_Missense_Mutation_p.A574V	p.A666V	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			7	2510	-			666					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1997C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475265	0.43942	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.05081	3.5	3.89	2.91	0.33838	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.23128	0.08	B	0.19946	0.027	T	0.48258	-0.9051	9	0.87932	D	0	.	8.6523	0.34042	0.0:0.2355:0.7645:0.0	.	666	Q5JNZ3	ZN311_HUMAN	V	666;574	ENSP00000366384:A666V	ENSP00000366384:A666V	A	-	2	0	ZNF311	29070761	0.000000	0.05858	0.009000	0.14445	0.267000	0.26476	0.349000	0.20055	2.099000	0.63709	0.591000	0.81541	GCC		PASS	0.413	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		7	30	7	30	---	---	---	---
ATF6B	1388	broad.mit.edu	37	6	32084310	32084310	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:32084310T>C	ENST00000375203.3	-	17	1861	c.1829A>G	c.(1828-1830)aAc>aGc	p.N610S	ATF6B_ENST00000375201.4_Missense_Mutation_p.N607S	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	610					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N610S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGAGGTCTTGTTGTGGCTGAT	0.607																																						uc003nzn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1828-1830)AAC>AGC		activating transcription factor 6 beta isoform							111.0	90.0	97.0					6																	32084310		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32084310T>C		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1829A>G	6.37:g.32084310T>C	ENSP00000364349:p.Asn610Ser					TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Missense_Mutation_p.N183S|ATF6B_uc003nzo.2_Missense_Mutation_p.N607S	p.N610S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			17	1862	-			610			Lumenal (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.1829A>G	CCDS4737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.533904|4.533904	0.85812|0.85812	.|.	.|.	ENSG00000213676|ENSG00000213676	ENST00000375203;ENST00000375201|ENST00000375192	T;T|.	0.67523|.	-0.27;0.49|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.067060|.	0.56097|.	U|.	0.000032|.	T|T	0.65657|0.65657	0.2712|0.2712	M|M	0.65677|0.65677	2.01|2.01	0.51482|0.51482	D|D	0.999925|0.999925	D;D;D|.	0.89917|.	0.998;1.0;0.997|.	D;D;D|.	0.80764|.	0.994;0.994;0.985|.	T|T	0.71490|0.71490	-0.4577|-0.4577	10|6	0.87932|0.87932	D|D	0|0	-14.086|-14.086	13.4714|13.4714	0.61283|0.61283	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	607;610;610|.	Q99941-2;Q99941;Q6AZW6|.	.;ATF6B_HUMAN;.|.	S|A	610;607|213	ENSP00000364349:N610S;ENSP00000364347:N607S|.	ENSP00000364347:N607S|ENSP00000364338:T213A	N|T	-|-	2|1	0|0	ATF6B|ATF6B	32192288|32192288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.356000|5.356000	0.66052|0.66052	2.081000|2.081000	0.62600|0.62600	0.383000|0.383000	0.25322|0.25322	AAC|ACA		PASS	0.607	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			11	12	11	12	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36922606	36922606	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:36922606C>A	ENST00000373674.3	+	1	398	c.70C>A	c.(70-72)Ccc>Acc	p.P24T		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	24					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.P24T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACCACAGGCCCCGTTGGAGC	0.612																																						uc003ona.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)CCC>ACC		protease inhibitor 16 precursor							53.0	53.0	53.0					6																	36922606		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36922606C>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.70C>A	6.37:g.36922606C>A	ENSP00000362778:p.Pro24Thr					PI16_uc003omz.1_Missense_Mutation_p.P24T|PI16_uc003onb.2_Missense_Mutation_p.P24T	p.P24T	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			1	398	+			24					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.70C>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998084	0.35226	.	.	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.08807	3.05	4.87	3.75	0.43078	CAP domain (2);	0.348217	0.26963	N	0.021602	T	0.02083	0.0065	L	0.32530	0.975	0.09310	N	1	P;P	0.41673	0.759;0.728	B;B	0.38156	0.19;0.266	T	0.42498	-0.9448	10	0.54805	T	0.06	.	2.4896	0.04607	0.2893:0.5096:0.0:0.2011	.	24;24	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	T	24	ENSP00000362778:P24T	ENSP00000362778:P24T	P	+	1	0	PI16	37030584	0.991000	0.36638	0.174000	0.22961	0.404000	0.30871	3.647000	0.54403	2.424000	0.82194	0.491000	0.48974	CCC		PASS	0.612	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		16	32	16	32	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38754673	38754673	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:38754673C>T	ENST00000359357.3	+	16	2131	c.1877C>T	c.(1876-1878)gCa>gTa	p.A626V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A626V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A843V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	626					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.A626V(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						CCAGAACAGGCAAAGAGATTG	0.328																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(1876-1878)GCA>GTA		dynein, axonemal, heavy polypeptide 8							87.0	89.0	88.0					6																	38754673		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38754673C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1877C>T	6.37:g.38754673C>T	ENSP00000352312:p.Ala626Val						p.A626V	NM_001371	NP_001362					16	2477	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1877C>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.255316	0.80135	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.58940	0.3;0.3;0.3	5.37	5.37	0.77165	Dynein heavy chain, domain-1 (1);	0.129405	0.50627	D	0.000102	T	0.54598	0.1868	M	0.64997	1.995	0.51767	D	0.999931	P	0.41848	0.763	P	0.45946	0.498	T	0.58918	-0.7551	10	0.51188	T	0.08	.	17.2812	0.87129	0.0:1.0:0.0:0.0	.	626	Q96JB1	DYH8_HUMAN	V	831;831;626;626	ENSP00000333363:A831V;ENSP00000352312:A626V;ENSP00000402294:A626V	ENSP00000333363:A831V	A	+	2	0	DNAH8	38862651	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.851000	0.69481	2.515000	0.84797	0.655000	0.94253	GCA		PASS	0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	39	10	39	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43230656	43230656	+	Silent	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:43230656G>A	ENST00000259750.4	+	13	1637	c.1554G>A	c.(1552-1554)gtG>gtA	p.V518V	TTBK1_ENST00000304139.5_Silent_p.V467V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	518					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V518V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CAGCCTCTGTGGAGCAGGAGG	0.647																																						uc003ouq.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1552-1554)GTG>GTA		tau tubulin kinase 1							72.0	57.0	62.0					6																	43230656		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43230656G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1554G>A	6.37:g.43230656G>A						TTBK1_uc011dvg.1_Silent_p.V41V	p.V518V	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		13	1833	+			518					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.1554G>A	CCDS34455.1																																																																																				PASS	0.647	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			7	12	7	12	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43304927	43304927	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:43304927T>C	ENST00000361428.2	-	10	6886	c.6809A>G	c.(6808-6810)cAg>cGg	p.Q2270R	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2270					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q2270R(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGTGTGGTCCTGGATGGCACC	0.458																																						uc003oux.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(6808-6810)CAG>CGG		zinc finger protein 318							112.0	104.0	107.0					6																	43304927		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43304927T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6809A>G	6.37:g.43304927T>C	ENSP00000354964:p.Gln2270Arg					ZNF318_uc003ouw.2_Intron	p.Q2270R	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6887	-			2270					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6809A>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	2.939	-0.219279	0.06061	.	.	ENSG00000171467	ENST00000361428	T	0.11821	2.74	5.93	0.672	0.17935	.	0.423177	0.20428	N	0.092537	T	0.01627	0.0052	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.46871	-0.9160	10	0.14252	T	0.57	0.3169	2.1152	0.03712	0.1253:0.1404:0.1387:0.5955	.	2270	Q5VUA4	ZN318_HUMAN	R	2270	ENSP00000354964:Q2270R	ENSP00000354964:Q2270R	Q	-	2	0	ZNF318	43412905	0.000000	0.05858	0.030000	0.17652	0.409000	0.31022	-0.487000	0.06505	-0.094000	0.12374	0.533000	0.62120	CAG		PASS	0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		13	37	13	37	---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49676880	49676880	+	Silent	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:49676880A>T	ENST00000339139.4	-	4	266	c.30T>A	c.(28-30)gtT>gtA	p.V10V		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	10					single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.V10V(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GCAGCACAGTAACCAGAAACA	0.393																																						uc003ozq.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(28-30)GTT>GTA		cysteine-rich secretory protein 2 precursor							100.0	96.0	97.0					6																	49676880		2203	4300	6503	SO:0001819	synonymous_variant	7180					extracellular space		g.chr6:49676880A>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.30T>A	6.37:g.49676880A>T						CRISP2_uc003ozl.2_Silent_p.V10V|CRISP2_uc003ozn.2_Silent_p.V10V|CRISP2_uc003ozr.2_Silent_p.V10V|CRISP2_uc003ozo.2_Silent_p.V10V|CRISP2_uc003ozm.2_Silent_p.V10V|CRISP2_uc003ozp.2_Silent_p.V10V	p.V10V	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		4	286	-	Lung NSC(77;0.0161)		10					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Silent	SNP	ENST00000339139.4	37	c.30T>A	CCDS4928.1																																																																																				PASS	0.393	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		13	41	13	41	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53519311	53519311	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:53519311G>T	ENST00000407079.1	-	1	759	c.760C>A	c.(760-762)Ctt>Att	p.L254I	KLHL31_ENST00000370905.3_Missense_Mutation_p.L254I			Q9H511	KLH31_HUMAN	kelch-like family member 31	254	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.L254I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCTCAAAAGATCTGCAGCG	0.388																																						uc003pcb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(760-762)CTT>ATT		kelch repeat and BTB (POZ) domain containing 1							134.0	129.0	131.0					6																	53519311		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519311G>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.760C>A	6.37:g.53519311G>T	ENSP00000384644:p.Leu254Ile						p.L254I	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			2	901	-	Lung NSC(77;0.0158)		254			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.760C>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342623	0.82022	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.72051	-0.62;-0.62	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	T	0.80259	-0.1457	10	0.72032	D	0.01	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	254	Q9H511	KLH31_HUMAN	I	254	ENSP00000359942:L254I;ENSP00000384644:L254I	ENSP00000359942:L254I	L	-	1	0	KLHL31	53627270	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.756000	0.94617	0.561000	0.74099	CTT		PASS	0.388	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		33	69	33	69	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62407151	62407151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:62407151C>A	ENST00000281156.4	-	8	1179	c.901G>T	c.(901-903)Gaa>Taa	p.E301*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.E301*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCATAGTATTCAGGCACACTG	0.393																																						uc003peg.2																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(901-903)GAA>TAA		KH domain-containing, RNA-binding, signal							130.0	106.0	114.0					6																	62407151		2203	4300	6503	SO:0001587	stop_gained	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62407151C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.901G>T	6.37:g.62407151C>A	ENSP00000281156:p.Glu301*						p.E301*	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	8	1148	-			301					A8K7M8|Q8N4I4|Q8TCZ4	Nonsense_Mutation	SNP	ENST00000281156.4	37	c.901G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	38	6.951098	0.97960	.	.	ENSG00000112232	ENST00000281156	.	.	.	5.37	5.37	0.77165	.	0.099373	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.3324	17.6414	0.88137	0.0:1.0:0.0:0.0	.	.	.	.	X	301	.	ENSP00000281156:E301X	E	-	1	0	KHDRBS2	62465110	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.269000	0.65542	2.675000	0.91044	0.650000	0.86243	GAA		PASS	0.393	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		8	18	8	18	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70064159	70064159	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:70064159G>T	ENST00000370598.1	+	27	4315	c.3494G>T	c.(3493-3495)tGt>tTt	p.C1165F	BAI3_ENST00000546190.1_Missense_Mutation_p.C129F|BAI3_ENST00000238918.8_Missense_Mutation_p.C371F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1165					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C1165F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGAGAAACTGTCAGGATCCC	0.398																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3493-3495)TGT>TTT		brain-specific angiogenesis inhibitor 3							178.0	163.0	168.0					6																	70064159		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70064159G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3494G>T	6.37:g.70064159G>T	ENSP00000359630:p.Cys1165Phe					BAI3_uc010kak.2_Missense_Mutation_p.C1165F|BAI3_uc011dxx.1_Missense_Mutation_p.C371F	p.C1165F	NM_001704	NP_001695	O60242	BAI3_HUMAN			27	3942	+		all_lung(197;0.212)	1165			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3494G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961566	0.53400	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.49432	1.15;1.15;0.78	5.08	5.08	0.68730	.	0.091759	0.85682	D	0.000000	T	0.34048	0.0884	L	0.55481	1.735	0.58432	D	0.999999	B;P	0.45902	0.244;0.868	B;B	0.37047	0.075;0.24	T	0.46442	-0.9191	10	0.72032	D	0.01	.	18.8309	0.92139	0.0:0.0:1.0:0.0	.	371;1165	B7Z356;O60242	.;BAI3_HUMAN	F	1165;371;129	ENSP00000359630:C1165F;ENSP00000238918:C371F;ENSP00000441821:C129F	ENSP00000238918:C371F	C	+	2	0	BAI3	70120880	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.399000	0.97285	2.536000	0.85505	0.591000	0.81541	TGT		PASS	0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			30	63	30	63	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89974321	89974321	+	Missense_Mutation	SNP	G	G	T	rs371695052		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:89974321G>T	ENST00000402938.3	-	8	1029	c.896C>A	c.(895-897)aCg>aAg	p.T299K	GABRR2_ENST00000602399.1_Missense_Mutation_p.T324K	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	299					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T299K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CAGCACCGTCGTGATACCTGC	0.537																																						uc003pnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)ACG>AAG		gamma-aminobutyric acid (GABA) receptor, rho 2							137.0	113.0	121.0					6																	89974321		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974321G>T		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.896C>A	6.37:g.89974321G>T	ENSP00000386029:p.Thr299Lys					GABRR2_uc011dzx.1_Missense_Mutation_p.T200K	p.T324K	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	979	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	324			Helical; (Potential).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.971C>A	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950938	0.73787	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.84	3.69	0.42338	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.192041	0.56097	D	0.000035	T	0.81235	0.4780	H	0.96633	3.855	0.53688	D	0.999974	P	0.49783	0.928	P	0.60682	0.878	D	0.84741	0.0751	8	.	.	.	.	10.6022	0.45373	0.1827:0.0:0.8173:0.0	.	324	P28476	GBRR2_HUMAN	K	324	.	.	T	-	2	0	GABRR2	90031040	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.858000	0.62947	0.567000	0.29293	-0.258000	0.10820	ACG		PASS	0.537	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			19	25	19	25	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90472061	90472061	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:90472061T>A	ENST00000369393.3	-	16	2448	c.2333A>T	c.(2332-2334)aAg>aTg	p.K778M	MDN1_ENST00000428876.1_Missense_Mutation_p.K778M			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	778					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.K778M(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTCCATCCTTGTTAACAGC	0.478																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(2332-2334)AAG>ATG		MDN1, midasin homolog							146.0	134.0	138.0					6																	90472061		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90472061T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2333A>T	6.37:g.90472061T>A	ENSP00000358400:p.Lys778Met					MDN1_uc003pno.1_Missense_Mutation_p.K196M	p.K778M	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	16	2449	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	778					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2333A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571109	0.65765	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.21543	3.66;3.66;2.0	5.98	5.98	0.97165	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	M	0.62209	1.925	0.58432	D	0.999994	D;P	0.89917	1.0;0.941	D;P	0.77557	0.99;0.898	T	0.11131	-1.0600	10	0.62326	D	0.03	.	15.0407	0.71788	0.0:0.0:0.0:1.0	.	705;778	Q5T795;Q9NU22	.;MDN1_HUMAN	M	778;778;705	ENSP00000358400:K778M;ENSP00000413970:K778M;ENSP00000409664:K705M	ENSP00000358400:K778M	K	-	2	0	MDN1	90528782	1.000000	0.71417	0.975000	0.42487	0.849000	0.48306	5.950000	0.70265	2.289000	0.77006	0.482000	0.46254	AAG		PASS	0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			41	51	41	51	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90660143	90660143	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:90660143T>C	ENST00000257749.4	-	7	2389	c.1682A>G	c.(1681-1683)cAt>cGt	p.H561R	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.H561R|BACH2_ENST00000343122.3_Missense_Mutation_p.H561R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	561						cytoplasm (GO:0005737)|nucleus (GO:0005634)	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.H561R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGTTCCTGATGTTCTGTGGC	0.572																																						uc011eab.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1681-1683)CAT>CGT		BTB and CNC homology 1, basic leucine zipper							97.0	88.0	91.0					6																	90660143		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660143T>C	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1682A>G	6.37:g.90660143T>C	ENSP00000257749:p.His561Arg					BACH2_uc003pnw.2_Missense_Mutation_p.H561R|BACH2_uc010kch.2_Missense_Mutation_p.H561R	p.H561R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2491	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	561					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1682A>G	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597504	0.28445	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38722	1.12;1.12;1.12	5.01	2.36	0.29203	.	0.115704	0.64402	D	0.000011	T	0.15132	0.0365	N	0.24115	0.695	0.39129	D	0.96181	P	0.49090	0.919	B	0.40165	0.321	T	0.03566	-1.1024	10	0.66056	D	0.02	-7.6132	11.3003	0.49302	0.0:0.0:0.2893:0.7107	.	561	Q9BYV9	BACH2_HUMAN	R	561	ENSP00000257749:H561R;ENSP00000437473:H561R;ENSP00000345642:H561R	ENSP00000257749:H561R	H	-	2	0	BACH2	90716864	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.840000	0.55843	0.727000	0.32360	0.254000	0.18369	CAT		PASS	0.572	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		33	31	33	31	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117240437	117240437	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:117240437C>A	ENST00000332958.2	+	11	1176	c.1160C>A	c.(1159-1161)aCa>aAa	p.T387K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	387					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.T387K(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAACGACAAACATCTTTCTTA	0.393																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1159-1161)ACA>AAA		regulatory factor X, 6							106.0	104.0	105.0					6																	117240437		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117240437C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1160C>A	6.37:g.117240437C>A	ENSP00000332208:p.Thr387Lys						p.T387K	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			11	1223	+			387					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1160C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184574	0.94885	.	.	ENSG00000185002	ENST00000332958	T	0.62941	-0.01	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.79172	-0.1913	10	0.87932	D	0	-19.7835	20.6721	0.99693	0.0:1.0:0.0:0.0	.	387	Q8HWS3	RFX6_HUMAN	K	387	ENSP00000332208:T387K	ENSP00000332208:T387K	T	+	2	0	RFX6	117347130	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.588000	0.67517	2.894000	0.99253	0.591000	0.81541	ACA		PASS	0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		20	35	20	35	---	---	---	---
IL20RA	53832	broad.mit.edu	37	6	137325764	137325764	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:137325764T>C	ENST00000316649.5	-	6	1093	c.858A>G	c.(856-858)gcA>gcG	p.A286A	IL20RA_ENST00000541547.1_Silent_p.A237A|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367748.1_Silent_p.A175A	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	286					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.A286A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TCACCAAATTTGCTGGGTGTT	0.423																																						uc003qhj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(856-858)GCA>GCG		interleukin 20 receptor, alpha precursor							140.0	151.0	147.0					6																	137325764		2203	4300	6503	SO:0001819	synonymous_variant	53832					integral to membrane	receptor activity	g.chr6:137325764T>C	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.858A>G	6.37:g.137325764T>C						IL20RA_uc011edl.1_Silent_p.A237A|IL20RA_uc003qhk.2_Silent_p.A175A|IL20RA_uc003qhi.2_Silent_p.A18A	p.A286A	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1291	-	Colorectal(23;0.24)		286			Cytoplasmic (Potential).		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	c.858A>G	CCDS5181.1																																																																																				PASS	0.423	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		45	95	45	95	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155451258	155451258	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:155451258G>C	ENST00000461783.3	+	6	2174	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.E301Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.E301Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.E301Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.E301Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	301					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E301Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTCCCTCCGGGAACTGTACAA	0.597																																						uc003qqb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(901-903)GAA>CAA		T-cell lymphoma invasion and metastasis 2							61.0	56.0	57.0					6																	155451258		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451258G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.901G>C	6.37:g.155451258G>C	ENSP00000437188:p.Glu301Gln					TIAM2_uc003qqe.2_Missense_Mutation_p.E301Q	p.E301Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2174	+		Ovarian(120;0.196)	301					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.901G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983939	0.53827	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06371	3.46;3.31;3.41;3.46;3.45;3.41	4.99	4.99	0.66335	.	0.552403	0.19980	N	0.101783	T	0.05868	0.0153	M	0.63428	1.95	0.80722	D	1	B	0.33583	0.418	B	0.34180	0.177	T	0.07751	-1.0756	10	0.66056	D	0.02	.	16.8516	0.85995	0.0:0.0:1.0:0.0	.	301	Q8IVF5	TIAM2_HUMAN	Q	301;547;301;301;301;301;301	ENSP00000437188:E301Q;ENSP00000434901:E301Q;ENSP00000407746:E301Q;ENSP00000327315:E301Q;ENSP00000353528:E301Q;ENSP00000433348:E301Q	ENSP00000327315:E301Q	E	+	1	0	TIAM2	155492950	1.000000	0.71417	0.901000	0.35422	0.317000	0.28152	8.615000	0.90920	2.489000	0.83994	0.655000	0.94253	GAA		PASS	0.597	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		15	19	15	19	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159677649	159677649	+	Silent	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:159677649A>G	ENST00000297267.9	+	18	5360	c.5160A>G	c.(5158-5160)ctA>ctG	p.L1720L	FNDC1_ENST00000340366.6_Silent_p.L1657L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1720	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L1720L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTGAGAACCTAAAGCCCAACA	0.428																																						uc010kjv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(5158-5160)CTA>CTG		fibronectin type III domain containing 1							211.0	191.0	197.0					6																	159677649		1940	4153	6093	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159677649A>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5160A>G	6.37:g.159677649A>G							p.L1720L	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	18	5360	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1720			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.5160A>G	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	A	8.548	0.874745	0.17395	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.59	3.68	0.42216	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52290	-0.8595	4	.	.	.	-18.6653	12.31	0.54924	0.0742:0.1301:0.7957:0.0	.	.	.	.	E	1616	.	.	K	+	1	0	FNDC1	159597639	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.824000	0.48088	1.330000	0.45394	-0.462000	0.05337	AAA		PASS	0.428	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		47	66	47	66	---	---	---	---
CCR6	1235	broad.mit.edu	37	6	167550795	167550795	+	Silent	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:167550795G>A	ENST00000341935.5	+	3	1629	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q	CCR6_ENST00000400926.2_Silent_p.Q359Q|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Silent_p.Q359Q	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	359					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.Q359Q(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TTTCTCGGCAGACCAGTGAGA	0.468																																						uc003qvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1075-1077)CAG>CAA		chemokine (C-C motif) receptor 6							65.0	62.0	63.0					6																	167550795		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550795G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.1077G>A	6.37:g.167550795G>A						CCR6_uc010kkm.2_Silent_p.Q359Q|CCR6_uc003qvn.3_Silent_p.Q359Q|CCR6_uc003qvm.3_Silent_p.Q359Q	p.Q359Q	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	13	3553	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	359			Cytoplasmic (Potential).		E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.1077G>A	CCDS5298.1																																																																																				PASS	0.468	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			16	38	16	38	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170626966	170626966	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr6:170626966T>A	ENST00000476287.1	+	2	596	c.488T>A	c.(487-489)gTa>gAa	p.V163E	FAM120B_ENST00000537664.1_Missense_Mutation_p.V186E|FAM120B_ENST00000540480.1_Missense_Mutation_p.V175E|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	163					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V163E(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GATTATGAGGTAGCTTCCTAT	0.458																																						uc003qxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)GTA>GAA		family with sequence similarity 120B							82.0	83.0	82.0					6																	170626966		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626966T>A	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.488T>A	6.37:g.170626966T>A	ENSP00000417970:p.Val163Glu					FAM120B_uc003qxo.1_Missense_Mutation_p.V163E|FAM120B_uc011ehd.1_Intron	p.V163E	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	596	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	163					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.488T>A	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894219	0.72639	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56941	0.43;0.43;0.43	6.07	6.07	0.98685	.	0.055575	0.64402	D	0.000001	T	0.64951	0.2645	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.68977	-0.5267	10	0.87932	D	0	-30.0132	16.6407	0.85098	0.0:0.0:0.0:1.0	.	163;163	Q96EK7;F2Z2E1	F120B_HUMAN;.	E	175;186;163	ENSP00000444125:V175E;ENSP00000440125:V186E;ENSP00000417970:V163E	ENSP00000436640:V163E	V	+	2	0	FAM120B	170468891	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	7.487000	0.81328	2.326000	0.78906	0.533000	0.62120	GTA		PASS	0.458	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		38	42	38	42	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11514078	11514078	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:11514078G>A	ENST00000423059.4	-	8	2386	c.2135C>T	c.(2134-2136)tCa>tTa	p.S712L	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	712	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S712L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGACGATACTGAGGTGTCCTC	0.517										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2134-2136)TCA>TTA		thrombospondin, type I, domain containing 7A							89.0	89.0	89.0					7																	11514078		2030	4195	6225	SO:0001583	missense	221981					integral to membrane		g.chr7:11514078G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2135C>T	7.37:g.11514078G>A	ENSP00000406482:p.Ser712Leu	HNSCC(18;0.044)					p.S712L	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2387	-			712			TSP type-1 7.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2135C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820771	0.71028	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58060	0.36	5.55	4.67	0.58626	.	0.054567	0.85682	D	0.000000	T	0.42131	0.1189	L	0.35288	1.05	0.58432	D	0.999992	B	0.13594	0.008	B	0.15484	0.013	T	0.21759	-1.0236	10	0.25751	T	0.34	.	14.558	0.68115	0.0703:0.0:0.9297:0.0	.	712	Q9UPZ6	THS7A_HUMAN	L	712	ENSP00000406482:S712L	ENSP00000262042:S712L	S	-	2	0	THSD7A	11480603	1.000000	0.71417	0.625000	0.29200	0.847000	0.48162	5.648000	0.67930	1.484000	0.48361	0.563000	0.77884	TCA		PASS	0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		14	34	14	34	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11632885	11632885	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:11632885C>T	ENST00000423059.4	-	3	1518	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	423	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A423T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTCACGTGGCACAGGGGACA	0.418										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1267-1269)GCC>ACC		thrombospondin, type I, domain containing 7A							81.0	76.0	78.0					7																	11632885		1901	4124	6025	SO:0001583	missense	221981					integral to membrane		g.chr7:11632885C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1267G>A	7.37:g.11632885C>T	ENSP00000406482:p.Ala423Thr	HNSCC(18;0.044)					p.A423T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	3	1519	-			423			Extracellular (Potential).|TSP type-1 4.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1267G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192498	0.38707	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60797	0.16	5.41	5.41	0.78517	.	0.216712	0.46758	D	0.000261	T	0.48768	0.1518	L	0.51422	1.61	0.26525	N	0.974357	B	0.21452	0.056	B	0.26614	0.071	T	0.37430	-0.9706	10	0.33141	T	0.24	.	7.0647	0.25145	0.0:0.7889:0.0:0.2111	.	423	Q9UPZ6	THS7A_HUMAN	T	423	ENSP00000406482:A423T	ENSP00000262042:A423T	A	-	1	0	THSD7A	11599410	0.916000	0.31088	1.000000	0.80357	0.471000	0.32888	0.542000	0.23222	2.541000	0.85698	0.561000	0.74099	GCC		PASS	0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		11	26	11	26	---	---	---	---
EEPD1	80820	broad.mit.edu	37	7	36194244	36194244	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:36194244G>T	ENST00000242108.4	+	2	1029	c.311G>T	c.(310-312)gGc>gTc	p.G104V	EEPD1_ENST00000534978.1_Missense_Mutation_p.G104V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	104					DNA repair (GO:0006281)		DNA binding (GO:0003677)	p.G104V(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGCAGCAAGGGCAGCTCAGCG	0.622																																						uc003tfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GGC>GTC		endonuclease/exonuclease/phosphatase family							67.0	62.0	64.0					7																	36194244		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194244G>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.311G>T	7.37:g.36194244G>T	ENSP00000242108:p.Gly104Val						p.G104V	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			2	951	+			104					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.311G>T	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091227	0.20471	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.22539	1.95;1.95	5.29	3.35	0.38373	.	0.280799	0.41194	N	0.000940	T	0.12220	0.0297	N	0.19112	0.55	0.58432	D	0.999999	B	0.24721	0.11	B	0.19148	0.024	T	0.11542	-1.0583	10	0.24483	T	0.36	-22.029	10.512	0.44868	0.0:0.1441:0.706:0.1498	.	104	Q7L9B9	EEPD1_HUMAN	V	104	ENSP00000242108:G104V;ENSP00000442692:G104V	ENSP00000242108:G104V	G	+	2	0	EEPD1	36160769	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	3.117000	0.50407	1.179000	0.42884	0.561000	0.74099	GGC		PASS	0.622	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		12	23	12	23	---	---	---	---
CCL26	10344	broad.mit.edu	37	7	75401237	75401237	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:75401237G>C	ENST00000394905.2	-	3	415	c.158C>G	c.(157-159)aCc>aGc	p.T53S	CCL26_ENST00000005180.4_Missense_Mutation_p.T53S	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	53					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T53S(1)		lung(3)	3						GCTGTTACTGGTGAATTCATA	0.547																																						uc003udt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)ACC>AGC		chemokine (C-C motif) ligand 26 precursor							105.0	101.0	102.0					7																	75401237		2203	4300	6503	SO:0001583	missense	10344				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75401237G>C	AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"""Chemokine ligands"", ""Endogenous ligands"""	10625	protein-coding gene	gene with protein product	"""macrophage inflammatory protein 4-alpha"", ""small inducible cytokine A26"", ""CC chemokine IMAC"", ""chemokine N1"", ""thymic stroma chemokine-1"", ""eotaxin-3"""	604697	"""small inducible cytokine subfamily A (Cys-Cys), member 26"""	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.158C>G	7.37:g.75401237G>C	ENSP00000378365:p.Thr53Ser						p.T53S	NM_006072	NP_006063	Q9Y258	CCL26_HUMAN			3	266	-			53					A0N0Q5|Q52LV8	Missense_Mutation	SNP	ENST00000394905.2	37	c.158C>G	CCDS5578.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149224	0.37923	.	.	ENSG00000006606	ENST00000005180;ENST00000394905	T;T	0.04862	3.54;3.54	3.61	2.7	0.31948	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.117725	0.38058	N	0.001834	T	0.17323	0.0416	.	.	.	0.09310	N	1	P	0.51351	0.944	D	0.66716	0.946	T	0.01245	-1.1407	9	0.54805	T	0.06	.	8.328	0.32169	0.0:0.0:0.7641:0.2359	.	53	Q9Y258	CCL26_HUMAN	S	53	ENSP00000005180:T53S;ENSP00000378365:T53S	ENSP00000005180:T53S	T	-	2	0	CCL26	75239173	0.043000	0.20138	0.010000	0.14722	0.010000	0.07245	1.192000	0.32150	0.860000	0.35481	-0.750000	0.03501	ACC		PASS	0.547	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344900.1	NM_006072		17	39	17	39	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87564408	87564408	+	Silent	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:87564408G>T	ENST00000265727.7	+	2	232	c.153G>T	c.(151-153)gtG>gtT	p.V51V	ADAM22_ENST00000398201.4_Silent_p.V51V|ADAM22_ENST00000315984.7_Silent_p.V51V|ADAM22_ENST00000398204.4_Silent_p.V51V|ADAM22_ENST00000398209.3_Silent_p.V51V|ADAM22_ENST00000439864.1_Silent_p.V51V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	51					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V51V(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGCATCGTGCCACTGCGCC	0.652																																						uc003ujn.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(151-153)GTG>GTT		ADAM metallopeptidase domain 22 isoform 1							47.0	52.0	50.0					7																	87564408		1989	4164	6153	SO:0001819	synonymous_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87564408G>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.153G>T	7.37:g.87564408G>T						ADAM22_uc003uji.1_Silent_p.V50V|ADAM22_uc003ujj.1_Silent_p.V51V|ADAM22_uc003ujk.1_Silent_p.V51V|ADAM22_uc003ujl.1_Silent_p.V51V|ADAM22_uc003ujm.2_Silent_p.V51V|ADAM22_uc003ujo.2_Silent_p.V51V|ADAM22_uc003ujp.1_Silent_p.V103V	p.V51V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	232	+	Esophageal squamous(14;0.00202)		51					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	c.153G>T	CCDS47637.1																																																																																				PASS	0.652	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		12	20	12	20	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847538	88847538	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:88847538T>G	ENST00000333190.4	+	2	787	c.178T>G	c.(178-180)Tgt>Ggt	p.C60G		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	60							metal ion binding (GO:0046872)	p.C60G(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGTGAATTATGTGACAAGCA	0.363										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(178-180)TGT>GGT		zinc finger protein 804B							99.0	96.0	97.0					7																	88847538		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88847538T>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.178T>G	7.37:g.88847538T>G	ENSP00000329638:p.Cys60Gly	HNSCC(36;0.09)					p.C60G	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	716	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		60			C2H2-type.		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.178T>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357811	0.82243	.	.	ENSG00000182348	ENST00000333190	T	0.68903	-0.36	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	D	0.83372	0.5240	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86368	0.1721	10	0.87932	D	0	-7.7965	15.4283	0.75072	0.0:0.0:0.0:1.0	.	60	A4D1E1	Z804B_HUMAN	G	60	ENSP00000329638:C60G	ENSP00000329638:C60G	C	+	1	0	ZNF804B	88685474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.238000	0.73509	0.397000	0.26171	TGT		PASS	0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		15	47	15	47	---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112424133	112424133	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:112424133C>T	ENST00000312814.6	-	2	1308	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	TMEM168_ENST00000454074.1_Missense_Mutation_p.E250K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	250						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.E250K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TTCCATCTTTCAGTTACTGAA	0.353																																						uc003vgn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(748-750)GAA>AAA		transmembrane protein 168							108.0	120.0	116.0					7																	112424133		2203	4298	6501	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424133C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.748G>A	7.37:g.112424133C>T	ENSP00000323068:p.Glu250Lys					TMEM168_uc010lju.2_Missense_Mutation_p.E250K|TMEM168_uc011kmr.1_Intron	p.E250K	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			2	1140	-			250					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.748G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.041176	0.93685	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78851	-0.2041	9	0.87932	D	0	-16.1055	20.6397	0.99537	0.0:1.0:0.0:0.0	.	250	Q9H0V1	TM168_HUMAN	K	250	.	ENSP00000323068:E250K	E	-	1	0	TMEM168	112211369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.353	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		46	108	46	108	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173740	126173740	+	Missense_Mutation	SNP	G	G	T	rs537993632		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:126173740G>T	ENST00000339582.2	-	9	2504	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R566S|GRM8_ENST00000444921.2_Missense_Mutation_p.R566S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	566					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R566S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAGCCTGTGCGGTTCATGTTG	0.532										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1696-1698)CGC>AGC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						143.0	127.0	132.0					7																	126173740		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173740G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1696C>A	7.37:g.126173740G>T	ENSP00000344173:p.Arg566Ser	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R566S|GRM8_uc010lkz.1_RNA	p.R566S	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2007	-		Prostate(267;0.186)	566			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1696C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592822	0.66219	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89746	-2.48;-2.48;-2.56	5.8	5.8	0.92144	.	0.048215	0.85682	D	0.000000	D	0.95239	0.8456	M	0.87682	2.9	0.80722	D	1	D;P	0.71674	0.998;0.611	D;B	0.80764	0.994;0.241	D	0.94467	0.7681	10	0.44086	T	0.13	.	19.0428	0.93008	0.0:0.0:1.0:0.0	.	566;566	O00222-2;O00222	.;GRM8_HUMAN	S	566	ENSP00000344173:R566S;ENSP00000409790:R566S;ENSP00000351142:R566S	ENSP00000344173:R566S	R	-	1	0	GRM8	125960976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.589000	0.67523	2.758000	0.94735	0.643000	0.83706	CGC		PASS	0.532	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			17	38	17	38	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700521	136700521	+	Silent	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr7:136700521G>A	ENST00000445907.2	+	3	1437	c.909G>A	c.(907-909)caG>caA	p.Q303Q	CHRM2_ENST00000402486.3_Silent_p.Q303Q|CHRM2_ENST00000397608.3_Silent_p.Q303Q|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Silent_p.Q303Q|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Silent_p.Q303Q|CHRM2_ENST00000320658.5_Silent_p.Q303Q|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	303					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.Q303Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAATAACCCAGGATGAAAACA	0.453																																						uc003vtf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(907-909)CAG>CAA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						81.0	84.0	83.0					7																	136700521		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700521G>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.909G>A	7.37:g.136700521G>A						CHRM2_uc003vtg.1_Silent_p.Q303Q|CHRM2_uc003vtj.1_Silent_p.Q303Q|CHRM2_uc003vtk.1_Silent_p.Q303Q|CHRM2_uc003vtl.1_Silent_p.Q303Q|CHRM2_uc003vtm.1_Silent_p.Q303Q|CHRM2_uc003vti.1_Silent_p.Q303Q|CHRM2_uc003vto.1_Silent_p.Q303Q|CHRM2_uc003vtn.1_Silent_p.Q303Q|uc003vtp.1_Intron	p.Q303Q	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1532	+			303			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.909G>A	CCDS5843.1																																																																																				PASS	0.453	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			21	37	21	37	---	---	---	---
SLC25A37	51312	broad.mit.edu	37	8	23423622	23423622	+	Splice_Site	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr8:23423622C>T	ENST00000519973.1	+	2	410	c.212C>T	c.(211-213)aCa>aTa	p.T71I	AC051642.1_ENST00000595539.1_5'Flank|SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	71					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)	p.T71I(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CGCTCCCAGACACGAATGCAG	0.458																																						uc003xdo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)ACA>ATA		solute carrier family 25, member 37							37.0	34.0	35.0					8																	23423622		1872	4097	5969	SO:0001630	splice_region_variant	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23423622C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.211-1C>T	8.37:g.23423622C>T						SLC25A37_uc003xdn.1_Missense_Mutation_p.T71I|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank	p.T71I	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	2	365	+		Prostate(55;0.114)	71			Solcar 1.		A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.212C>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549618	0.86127	.	.	ENSG00000147454	ENST00000519973;ENST00000523930	D;D	0.82433	-1.61;-1.61	5.63	5.63	0.86233	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92469	0.7609	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93330	0.6700	10	0.87932	D	0	-2.548	18.2734	0.90076	0.0:1.0:0.0:0.0	.	71;71	Q9NYZ2;Q9NYZ2-2	MFRN1_HUMAN;.	I	71;52	ENSP00000429200:T71I;ENSP00000428066:T52I	ENSP00000290075:T71I	T	+	2	0	SLC25A37	23479567	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.466000	0.80914	2.652000	0.90054	0.655000	0.94253	ACA		PASS	0.458	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612	Missense_Mutation	8	7	8	7	---	---	---	---
FAM110B	90362	broad.mit.edu	37	8	59058840	59058840	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr8:59058840C>A	ENST00000361488.3	+	5	931	c.51C>A	c.(49-51)ccC>ccA	p.P17P	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	17						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P17P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGGTCAGCCCCGCGGGCACCT	0.667																																						uc003xtj.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(49-51)CCC>CCA		hypothetical protein LOC90362							32.0	32.0	32.0					8																	59058840		2203	4300	6503	SO:0001819	synonymous_variant	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058840C>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.51C>A	8.37:g.59058840C>A							p.P17P	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	931	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	17					Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	c.51C>A	CCDS6170.1																																																																																				PASS	0.667	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		12	16	12	16	---	---	---	---
REXO1L1P	254958	broad.mit.edu	37	8	86573759	86573759	+	Silent	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr8:86573759C>T	ENST00000379010.2	-	1	1967	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_172239.4	NP_758439.4												p.Q656Q(2)		endometrium(1)|lung(4)	5						TCTGGGCGCGCTGTCGGACCT	0.667																																						uc011lfw.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1462-1464)CAG>CAA		exonuclease GOR							4.0	3.0	3.0					8																	86573759		1552	3225	4777	SO:0001819	synonymous_variant	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573759C>T																												ENST00000379010.2:c.1968G>A	8.37:g.86573759C>T							p.Q488Q	NM_172239	NP_758439	Q8IX06	GOR_HUMAN			1	1510	-			656						Silent	SNP	ENST00000379010.2	37	c.1464G>A																																																																																					PASS	0.667	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			5	45	5	45	---	---	---	---
FAM83H	286077	broad.mit.edu	37	8	144808385	144808385	+	Silent	SNP	T	T	C	rs531814884	byFrequency	TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr8:144808385T>C	ENST00000388913.3	-	5	3371	c.3246A>G	c.(3244-3246)ccA>ccG	p.P1082P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1082					biomineral tissue development (GO:0031214)			p.P1082P(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGACATATCTGGGGCCAGGA	0.711													t|||	2	0.000399361	0.0	0.0	5008	,	,		13545	0.0		0.0	False		,,,				2504	0.002					uc003yzk.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(3244-3246)CCA>CCG		FAM83H							13.0	16.0	15.0					8																	144808385		1965	4134	6099	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808385T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3246A>G	8.37:g.144808385T>C						FAM83H_uc010mfk.1_RNA	p.P1082P	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3315	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1082					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.3246A>G	CCDS6410.2																																																																																				PASS	0.711	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		15	11	15	11	---	---	---	---
CDK20	23552	broad.mit.edu	37	9	90584108	90584108	+	Splice_Site	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr9:90584108C>A	ENST00000325303.8	-	7	1149		c.e7+1		CDK20_ENST00000375871.4_Splice_Site|CDK20_ENST00000605159.1_Splice_Site|CDK20_ENST00000336654.5_Splice_Site|CDK20_ENST00000375883.3_Splice_Site	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20						cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.?(2)		skin(1)	1						TCTCCCCCTACCTTGGAAGCT	0.597																																						uc004apr.2																			2	Unknown(2)		lung(2)	skin(1)	1						c.e7+1		cell cycle related kinase isoform 3							140.0	125.0	130.0					9																	90584108		2203	4300	6503	SO:0001630	splice_region_variant	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90584108C>A	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.843+1G>T	9.37:g.90584108C>A						CDK20_uc004aps.2_Splice_Site_p.K260_splice|CDK20_uc004apt.2_Splice_Site_p.K273_splice|CDK20_uc004apu.2_Splice_Site_p.R219_splice	p.K281_splice	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN			7	1149	-								A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Splice_Site	SNP	ENST00000325303.8	37	c.843_splice	CCDS35060.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424962	0.25639	.	.	ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000375871;ENST00000325303;ENST00000286878	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.869	0.57955	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK20	89773928	1.000000	0.71417	0.998000	0.56505	0.051000	0.14879	5.152000	0.64882	2.178000	0.69098	0.655000	0.94253	.		PASS	0.597	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119	Intron	47	23	47	23	---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112199224	112199224	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr9:112199224G>T	ENST00000374541.2	-	9	718	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	PTPN3_ENST00000262539.3_Missense_Mutation_p.S96Y|PTPN3_ENST00000412145.1_Missense_Mutation_p.S74Y|PTPN3_ENST00000446349.1_Missense_Mutation_p.S74Y	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	205	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.S205Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATATAGCAGGATTCTGCTTC	0.393																																						uc004bed.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(613-615)TCC>TAC		protein tyrosine phosphatase, non-receptor type							117.0	107.0	110.0					9																	112199224		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112199224G>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.614C>A	9.37:g.112199224G>T	ENSP00000363667:p.Ser205Tyr					PTPN3_uc004beb.2_Missense_Mutation_p.S74Y|PTPN3_uc004bec.2_Missense_Mutation_p.S74Y|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.S205Y|PTPN3_uc011lwh.1_Missense_Mutation_p.S96Y	p.S205Y	NM_002829	NP_002820	P26045	PTN3_HUMAN			9	726	-			205			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.614C>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116487	0.37339	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.82	5.82	0.92795	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.065931	0.64402	D	0.000004	T	0.77322	0.4113	N	0.12182	0.205	0.80722	D	1	D;B;B	0.89917	1.0;0.392;0.213	D;B;B	0.76071	0.987;0.115;0.262	T	0.71613	-0.4540	10	0.10111	T	0.7	.	18.8705	0.92311	0.0:0.0:1.0:0.0	.	96;205;205	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	Y	205;74;74;205;96	ENSP00000416654:S74Y;ENSP00000395384:S74Y;ENSP00000363667:S205Y;ENSP00000262539:S96Y	ENSP00000262539:S96Y	S	-	2	0	PTPN3	111239045	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	5.906000	0.69900	2.752000	0.94435	0.655000	0.94253	TCC		PASS	0.393	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			34	14	34	14	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139410454	139410454	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr9:139410454A>T	ENST00000277541.6	-	10	1723	c.1648T>A	c.(1648-1650)Tac>Aac	p.Y550N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	550	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y550N(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)		ACACAGGTGTAAGTGTTGGGT	0.637			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(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.(1648-1650)TAC>AAC		notch1 preproprotein							43.0	49.0	47.0					9																	139410454		2043	4192	6235	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.chr9:139410454A>T	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.1648T>A	9.37:g.139410454A>T	ENSP00000277541:p.Tyr550Asn	HNSCC(8;0.001)				NOTCH1_uc004cia.1_5'Flank	p.Y550N	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	10	1648	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	550			Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1648T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569189	0.86439	.	.	ENSG00000148400	ENST00000277541	D	0.94723	-3.5	4.88	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.98482	0.9494	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99177	1.0866	10	0.72032	D	0.01	.	13.6569	0.62344	1.0:0.0:0.0:0.0	.	550	P46531	NOTC1_HUMAN	N	550	ENSP00000277541:Y550N	ENSP00000277541:Y550N	Y	-	1	0	NOTCH1	138530275	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.693000	0.91288	1.805000	0.52779	0.460000	0.39030	TAC		PASS	0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		16	7	16	7	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13736020	13736020	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:13736020C>T	ENST00000357447.2	-	15	1363	c.995G>A	c.(994-996)cGc>cAc	p.R332H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.R317H|FRMD4A_ENST00000342409.2_Missense_Mutation_p.R348H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.R332H|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	332					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.R332H(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACTCAGGCTGCGTGCTGCATG	0.587																																						uc001ims.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|pancreas(1)	3						c.(994-996)CGC>CAC		FERM domain containing 4A							161.0	122.0	135.0					10																	13736020		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13736020C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.995G>A	10.37:g.13736020C>T	ENSP00000350032:p.Arg332His					FRMD4A_uc009xjf.1_Missense_Mutation_p.R332H|FRMD4A_uc001imt.1_Missense_Mutation_p.R365H|FRMD4A_uc001imu.1_Missense_Mutation_p.R348H	p.R332H	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			15	1347	-			332					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.995G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953863	0.92660	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.95;0.985;0.985	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.9669	0.92700	0.0:1.0:0.0:0.0	.	348;365;332	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	H	317;332;332;365;348	ENSP00000351438:R317H;ENSP00000350032:R332H;ENSP00000367764:R332H;ENSP00000264546:R365H;ENSP00000344237:R348H	ENSP00000264546:R365H	R	-	2	0	FRMD4A	13776026	1.000000	0.71417	0.333000	0.25482	0.716000	0.41182	7.814000	0.86154	2.478000	0.83669	0.561000	0.74099	CGC		PASS	0.587	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		3	50	3	50	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	32856664	32856664	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:32856664G>A	ENST00000362006.5	+	16	1807	c.1264G>A	c.(1264-1266)Ggg>Agg	p.G422R	C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G422R|C10orf68_ENST00000375030.2_5'Flank|C10orf68_ENST00000375028.3_5'Flank	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	422								p.G422R(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TAAAAGTGAGGGGAAAACTGA	0.308																																						uc001iwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1264-1266)GGG>AGG		coiled-coil domain containing 7							74.0	72.0	72.0					10																	32856664		2203	4300	6503	SO:0001583	missense	221016							g.chr10:32856664G>A	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1264G>A	10.37:g.32856664G>A	ENSP00000355078:p.Gly422Arg					CCDC7_uc001iwk.2_Missense_Mutation_p.G422R|CCDC7_uc009xlv.2_RNA|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.3_5'UTR	p.G422R	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN			16	1834	+		Breast(68;0.000207)|Prostate(175;0.0107)	422					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.1264G>A	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036868	0.54896	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.65549	0.54;0.54;-0.16	5.11	4.21	0.49690	.	.	.	.	.	T	0.48978	0.1530	L	0.27053	0.805	0.22240	N	0.99926	B	0.19583	0.037	B	0.23852	0.049	T	0.40289	-0.9571	9	0.39692	T	0.17	.	9.7612	0.40532	0.096:0.0:0.904:0.0	.	422	Q96M83	CCDC7_HUMAN	R	422;422;91	ENSP00000277657:G422R;ENSP00000355078:G422R;ENSP00000401923:G91R	ENSP00000277657:G422R	G	+	1	0	CCDC7	32896670	0.002000	0.14202	0.004000	0.12327	0.038000	0.13279	0.592000	0.23984	1.274000	0.44362	0.650000	0.86243	GGG		PASS	0.308	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		13	19	13	19	---	---	---	---
ZNF25	219749	broad.mit.edu	37	10	38241972	38241972	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:38241972C>A	ENST00000302609.7	-	6	666	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	152					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.G152W(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AAAGATTTCCCACATTTATCA	0.363																																						uc001ize.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(454-456)GGG>TGG		zinc finger protein 25							147.0	152.0	150.0					10																	38241972		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241972C>A	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.454G>T	10.37:g.38241972C>A	ENSP00000302222:p.Gly152Trp					ZNF25_uc001izf.1_Missense_Mutation_p.G116W	p.G152W	NM_145011	NP_659448	P17030	ZNF25_HUMAN			6	559	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	152			C2H2-type 2.		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.454G>T	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640254	0.47153	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.60040	0.22	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.314809	0.23191	N	0.050912	T	0.78553	0.4301	M	0.90759	3.145	0.36958	D	0.893205	D	0.89917	1.0	D	0.78314	0.991	D	0.84511	0.0622	10	0.87932	D	0	-9.9239	11.5564	0.50750	0.0:0.8195:0.1804:0.0	.	152	P17030	ZNF25_HUMAN	W	152;116	ENSP00000302222:G152W	ENSP00000302222:G152W	G	-	1	0	ZNF25	38281978	0.272000	0.24172	0.137000	0.22149	0.732000	0.41865	1.020000	0.30027	2.690000	0.91761	0.644000	0.83932	GGG		PASS	0.363	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		41	98	41	98	---	---	---	---
PGBD3	267004	broad.mit.edu	37	10	50724411	50724411	+	Silent	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:50724411T>A	ENST00000374127.3	-	2	951	c.750A>T	c.(748-750)atA>atT	p.I250I	PGBD3_ENST00000508005.2_Silent_p.I250I|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Silent_p.I718I|ERCC6-PGBD3_ENST00000447839.2_Silent_p.I718I|PGBD3_ENST00000603152.1_Silent_p.I718I	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	250								p.I250I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TAAGTTTGCTTATGAGAGGTC	0.368																																						uc001jht.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(748-750)ATA>ATT		hypothetical protein LOC267004							34.0	34.0	34.0					10																	50724411		2203	4299	6502	SO:0001819	synonymous_variant	267004							g.chr10:50724411T>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.750A>T	10.37:g.50724411T>A						ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.I718I|PGBD3_uc001jhu.2_Silent_p.I718I	p.I250I	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	1005	-			250					B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	c.750A>T	CCDS7230.1																																																																																				PASS	0.368	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			17	33	17	33	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61836114	61836114	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:61836114C>A	ENST00000280772.2	-	37	4716	c.4525G>T	c.(4525-4527)Gct>Tct	p.A1509S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1509					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1509S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAATCGGAGCTGTTGTCCAG	0.468																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4525-4527)GCT>TCT		ankyrin 3 isoform 1							90.0	87.0	88.0					10																	61836114		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61836114C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4525G>T	10.37:g.61836114C>A	ENSP00000280772:p.Ala1509Ser					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	p.A1509S	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	4717	-			1509					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4525G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636525	0.47049	.	.	ENSG00000151150	ENST00000280772	T	0.66815	-0.23	5.87	4.01	0.46588	.	0.173783	0.27406	N	0.019503	T	0.55673	0.1935	L	0.40543	1.245	0.80722	D	1	B	0.17465	0.022	B	0.10450	0.005	T	0.46789	-0.9166	10	0.21014	T	0.42	.	13.0091	0.58722	0.0:0.8708:0.0:0.1292	.	1509	Q12955	ANK3_HUMAN	S	1509	ENSP00000280772:A1509S	ENSP00000280772:A1509S	A	-	1	0	ANK3	61506120	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.810000	0.55613	0.814000	0.34374	0.585000	0.79938	GCT		PASS	0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		8	31	8	31	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67680245	67680245	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:67680245G>T	ENST00000433211.2	-	18	2705	c.2531C>A	c.(2530-2532)cCa>cAa	p.P844Q	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P844Q|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.P844Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCACAACTGGGTGCCGGGG	0.473																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2530-2532)CCA>CAA		catenin, alpha 3							87.0	90.0	89.0					10																	67680245		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680245G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2531C>A	10.37:g.67680245G>T	ENSP00000389714:p.Pro844Gln					CTNNA3_uc001jmw.2_Missense_Mutation_p.P844Q	p.P844Q	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			18	2654	-			844						Missense_Mutation	SNP	ENST00000433211.2	37	c.2531C>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917409	0.92249	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.37411	1.2;1.2;1.2	5.92	5.92	0.95590	.	0.000000	0.56097	D	0.000024	T	0.65719	0.2718	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66618	-0.5878	10	0.48119	T	0.1	-15.9245	17.8145	0.88627	0.0:0.0:1.0:0.0	.	844	Q9UI47	CTNA3_HUMAN	Q	844;844;183	ENSP00000389714:P844Q;ENSP00000362849:P844Q;ENSP00000362840:P183Q	ENSP00000362840:P183Q	P	-	2	0	CTNNA3	67350251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.809000	0.96659	0.655000	0.94253	CCA		PASS	0.473	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		33	51	33	51	---	---	---	---
PPA1	5464	broad.mit.edu	37	10	71974268	71974268	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:71974268T>C	ENST00000373232.3	-	5	471	c.372A>G	c.(370-372)gaA>gaG	p.E124E	PPA1_ENST00000608321.1_Silent_p.E124E	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	124					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)	p.E124E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						TGCTTCCAATTTCACACACAT	0.318																																						uc001jqv.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(370-372)GAA>GAG		pyrophosphatase 1							112.0	105.0	107.0					10																	71974268		2203	4300	6503	SO:0001819	synonymous_variant	5464				diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding	g.chr10:71974268T>C	AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.372A>G	10.37:g.71974268T>C							p.E124E	NM_021129	NP_066952	Q15181	IPYR_HUMAN			5	479	-			124					Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Silent	SNP	ENST00000373232.3	37	c.372A>G	CCDS7299.1																																																																																				PASS	0.318	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		13	29	13	29	---	---	---	---
SFTPA2	729238	broad.mit.edu	37	10	81319118	81319118	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:81319118A>T	ENST00000372325.2	-	3	206	c.122T>A	c.(121-123)cTg>cAg	p.L41Q	SFTPA2_ENST00000372327.5_Missense_Mutation_p.L41Q	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	41	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.L41Q(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCTGCCTGGCAGGCCGTGGGA	0.617									Pulmonary Fibrosis, Idiopathic																													uc001kal.3																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)CTG>CAG		RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;							119.0	113.0	115.0					10																	81319118		2203	4295	6498	SO:0001583	missense	729238	Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81319118A>T		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.122T>A	10.37:g.81319118A>T	ENSP00000361400:p.Leu41Gln					SFTPA2_uc001kan.3_Missense_Mutation_p.L41Q|SFTPA2_uc001kam.2_RNA	p.L41Q	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	219	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		41			Collagen-like.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.122T>A	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	11.56	1.676175	0.29783	.	.	ENSG00000185303	ENST00000372325;ENST00000372327;ENST00000417041	D;D;D	0.93426	-3.22;-3.22;-3.22	2.91	1.56	0.23342	.	0.168470	0.27956	N	0.017169	D	0.87018	0.6073	L	0.35414	1.06	0.24684	N	0.993347	P	0.36162	0.54	B	0.37346	0.247	T	0.80178	-0.1490	10	0.56958	D	0.05	-4.5768	6.0679	0.19873	0.7712:0.0:0.0:0.2288	.	41	E3VLC8	.	Q	41	ENSP00000361400:L41Q;ENSP00000361402:L41Q;ENSP00000397375:L41Q	ENSP00000361400:L41Q	L	-	2	0	SFTPA2	80989124	0.059000	0.20769	0.964000	0.40570	0.637000	0.38172	1.129000	0.31381	1.095000	0.41419	0.352000	0.21897	CTG		PASS	0.617	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		17	19	17	19	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87362103	87362103	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:87362103G>T	ENST00000327946.7	-	16	3042	c.2957C>A	c.(2956-2958)cCc>cAc	p.P986H	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.P557H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	986					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.P986H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GAAGGACATGGGGATGGGGGT	0.682										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2956-2958)CCC>CAC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						38.0	41.0	40.0					10																	87362103		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362103G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2957C>A	10.37:g.87362103G>T	ENSP00000330148:p.Pro986His	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P557H|uc001kdk.1_Intron	p.P986H	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			16	3058	-			986			Cytoplasmic (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2957C>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529602	0.85706	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.15718	2.65;2.4	5.83	5.83	0.93111	.	0.046733	0.85682	D	0.000000	T	0.35068	0.0919	L	0.53249	1.67	0.80722	D	1	D	0.67145	0.996	P	0.57371	0.819	T	0.01532	-1.1331	10	0.87932	D	0	.	19.1034	0.93283	0.0:0.0:1.0:0.0	.	986	Q9ULK0	GRID1_HUMAN	H	986;557	ENSP00000330148:P986H;ENSP00000444455:P557H	ENSP00000330148:P986H	P	-	2	0	GRID1	87352083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	CCC		PASS	0.682	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		13	12	13	12	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919769	103919769	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:103919769A>T	ENST00000605788.1	+	8	1211	c.976A>T	c.(976-978)Agt>Tgt	p.S326C	NOLC1_ENST00000603742.1_Missense_Mutation_p.S45C|NOLC1_ENST00000405356.1_Missense_Mutation_p.S336C|NOLC1_ENST00000488254.2_Missense_Mutation_p.S327C	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	326	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.S326C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TGAAGACAGCAGTGATGAGTC	0.592																																						uc001kuo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(976-978)AGT>TGT		nucleolar and coiled-body phosphoprotein 1							46.0	47.0	47.0					10																	103919769		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919769A>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.976A>T	10.37:g.103919769A>T	ENSP00000474710:p.Ser326Cys					NOLC1_uc001kup.2_Missense_Mutation_p.S336C|NOLC1_uc001kuq.2_Missense_Mutation_p.S327C|NOLC1_uc009xxb.1_Missense_Mutation_p.S45C|NOLC1_uc001kur.2_Missense_Mutation_p.S45C	p.S326C	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	8	1211	+		Colorectal(252;0.122)	326			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.|Acidic serine cluster 6.		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.976A>T	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541394	0.65085	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.48201	0.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	M	0.86028	2.79	0.58432	D	0.999999	D;D;D	0.56521	0.976;0.976;0.959	P;P;P	0.53006	0.715;0.715;0.523	T	0.72121	-0.4386	10	0.72032	D	0.01	-10.1343	15.6572	0.77150	1.0:0.0:0.0:0.0	.	327;336;326	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	C	336;326	ENSP00000385410:S336C	ENSP00000359024:S326C	S	+	1	0	NOLC1	103909759	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.521000	0.53472	2.371000	0.80710	0.533000	0.62120	AGT		PASS	0.592	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		5	0	5	0	---	---	---	---
ACTR1A	10121	broad.mit.edu	37	10	104242820	104242820	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr10:104242820G>T	ENST00000369905.4	-	7	761	c.698C>A	c.(697-699)aCg>aAg	p.T233K	ACTR1A_ENST00000545684.1_Missense_Mutation_p.T159K|ACTR1A_ENST00000446605.2_Missense_Mutation_p.T186K|ACTR1A_ENST00000487599.1_Missense_Mutation_p.T233K|ACTR1A_ENST00000470322.1_5'UTR|RP11-18I14.11_ENST00000608017.1_RNA	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	233					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)	p.T233K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGTCTCTAGCGTCTCATCCTT	0.517																																						uc001kvv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(697-699)ACG>AAG		ARP1 actin-related protein 1 homolog A,							256.0	223.0	234.0					10																	104242820		2203	4300	6503	SO:0001583	missense	10121				G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	g.chr10:104242820G>T	X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.698C>A	10.37:g.104242820G>T	ENSP00000358921:p.Thr233Lys					ACTR1A_uc010qqn.1_Missense_Mutation_p.T159K|ACTR1A_uc010qqo.1_Missense_Mutation_p.T186K	p.T233K	NM_005736	NP_005727	P61163	ACTZ_HUMAN		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)	7	806	-		Colorectal(252;0.122)	233					B2R6B0|P42024	Missense_Mutation	SNP	ENST00000369905.4	37	c.698C>A	CCDS7536.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030532	0.35797	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.94092	-3.35;-3.35;-3.35	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	D	0.87107	0.6095	N	0.02111	-0.68	0.80722	D	1	B	0.18166	0.026	B	0.33750	0.169	T	0.82853	-0.0252	10	0.87932	D	0	.	20.1775	0.98187	0.0:0.0:1.0:0.0	.	233	P61163	ACTZ_HUMAN	K	233;159;186	ENSP00000358921:T233K;ENSP00000438890:T159K;ENSP00000406028:T186K	ENSP00000358921:T233K	T	-	2	0	ACTR1A	104232810	1.000000	0.71417	0.981000	0.43875	0.969000	0.65631	9.441000	0.97557	2.771000	0.95319	0.561000	0.74099	ACG		PASS	0.517	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			37	46	37	46	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1254275	1254275	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:1254275C>G	ENST00000529681.1	+	18	2156	c.2098C>G	c.(2098-2100)Cgc>Ggc	p.R700G	MUC5B_ENST00000447027.1_Missense_Mutation_p.R703G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	700	TIL 2.			R -> P (in Ref. 3; CAA06167). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R703G(1)|p.R700G(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAAGTCCCAGCGCTACGCCTA	0.667																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(4075-4077)CGC>GGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							19.0	24.0	22.0					11																	1254275		2151	4243	6394	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1254275C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2098C>G	11.37:g.1254275C>G	ENSP00000436812:p.Arg700Gly					MUC5B_uc009yct.1_Missense_Mutation_p.R700G|MUC5B_uc001ltb.2_Missense_Mutation_p.R703G|MUC5B_uc001lta.2_Missense_Mutation_p.R368G	p.R1359G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	34	4201	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	700	R -> P (in Ref. 3; CAA06167).		TIL 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4075C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	3.465	-0.109086	0.06924	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.90788	-2.73;-2.73	4.86	-2.11	0.07187	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.82421	0.5033	L	0.31065	0.9	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.68326	-0.5438	9	0.87932	D	0	.	6.9512	0.24546	0.489:0.3652:0.1458:0.0	.	700;1359;703	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	700;703;701;736	ENSP00000436812:R700G;ENSP00000415793:R703G	ENSP00000343037:R701G	R	+	1	0	MUC5B	1210851	0.000000	0.05858	0.001000	0.08648	0.083000	0.17756	-0.192000	0.09587	-0.717000	0.04955	-0.656000	0.03901	CGC		PASS	0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	7	5	7	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023346	6023346	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:6023346T>C	ENST00000330728.4	-	1	1078	c.1033A>G	c.(1033-1035)Att>Gtt	p.I345V		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I345V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATAAACAATGGGGTTCAGA	0.473																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1033-1035)ATT>GTT		olfactory receptor, family 56, subfamily A,							70.0	72.0	71.0					11																	6023346		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023346T>C	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.1033A>G	11.37:g.6023346T>C	ENSP00000328215:p.Ile345Val						p.I345V	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1033	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	293			Helical; Name=7; (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.1033A>G	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	T	9.826	1.187071	0.21870	.	.	ENSG00000183389	ENST00000330728	T	0.40756	1.02	3.87	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.209891	0.22782	N	0.055720	T	0.34890	0.0913	L	0.60957	1.885	0.24229	N	0.995405	B	0.15141	0.012	B	0.17979	0.02	T	0.23084	-1.0198	10	0.20519	T	0.43	.	8.4994	0.33148	0.0:0.0969:0.0:0.9031	.	293	Q8NGH8	O56A4_HUMAN	V	345	ENSP00000328215:I345V	ENSP00000328215:I345V	I	-	1	0	OR56A4	5979922	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.175000	0.09825	0.632000	0.30432	0.533000	0.62120	ATT		PASS	0.473	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		13	37	13	37	---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6281297	6281297	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:6281297G>T	ENST00000334619.2	+	1	332	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S	CCKBR_ENST00000532715.1_Missense_Mutation_p.A47S|CCKBR_ENST00000525014.1_Missense_Mutation_p.A47S|CCKBR_ENST00000525462.1_Missense_Mutation_p.A47S|CCKBR_ENST00000531712.1_Missense_Mutation_p.A47S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	47					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.A47S(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CATTCGCGGAGCCGGGACACG	0.672																																						uc001mcp.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(139-141)GCC>TCC		cholecystokinin B receptor	Pentagastrin(DB00183)						16.0	21.0	19.0					11																	6281297		2186	4283	6469	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6281297G>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.139G>T	11.37:g.6281297G>T	ENSP00000335544:p.Ala47Ser					CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.A47S|CCKBR_uc001mcs.2_Missense_Mutation_p.A47S	p.A47S	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	1	332	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	47			Extracellular (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.139G>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	g	2.272	-0.366809	0.05069	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525014;ENST00000525462;ENST00000531712	T;T;T;T;T	0.76060	1.24;-0.99;1.24;1.24;0.7	2.77	0.133	0.14766	.	0.696895	0.11763	U	0.531881	T	0.50854	0.1640	N	0.19112	0.55	0.19775	N	0.999952	B;B	0.14805	0.009;0.011	B;B	0.12156	0.007;0.005	T	0.30090	-0.9990	10	0.09338	T	0.73	.	4.7194	0.12912	0.4492:0.0:0.5508:0.0	.	47;47	P32239-2;P32239	.;GASR_HUMAN	S	47	ENSP00000335544:A47S;ENSP00000432079:A47S;ENSP00000437001:A47S;ENSP00000435534:A47S;ENSP00000435675:A47S	ENSP00000335544:A47S	A	+	1	0	CCKBR	6237873	0.999000	0.42202	0.999000	0.59377	0.714000	0.41099	0.300000	0.19156	0.041000	0.15688	-0.359000	0.07587	GCC		PASS	0.672	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		4	15	4	15	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661831	6661831	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:6661831C>A	ENST00000299441.3	-	2	1425	c.1014G>T	c.(1012-1014)ggG>ggT	p.G338G		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G338G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGTGAGCCCCACCATCTC	0.587																																						uc001mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1012-1014)GGG>GGT		dachsous 1 precursor							110.0	106.0	107.0					11																	6661831		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661831C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1014G>T	11.37:g.6661831C>A							p.G338G	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1424	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	338			Extracellular (Potential).|Cadherin 3.		O15098	Silent	SNP	ENST00000299441.3	37	c.1014G>T	CCDS7771.1																																																																																				PASS	0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		16	56	16	56	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14889073	14889073	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:14889073G>A	ENST00000282096.4	+	15	3261	c.2908G>A	c.(2908-2910)Ggt>Agt	p.G970S	PDE3B_ENST00000455098.2_Missense_Mutation_p.G919S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	970	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.G970S(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AGCAAATCTTGGTCTGCCCAT	0.393																																						uc001mln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2908-2910)GGT>AGT		phosphodiesterase 3B							89.0	81.0	84.0					11																	14889073		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14889073G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2908G>A	11.37:g.14889073G>A	ENSP00000282096:p.Gly970Ser					PDE3B_uc010rcr.1_Missense_Mutation_p.G919S	p.G970S	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			15	3261	+			970			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.2908G>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359432	0.95854	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.82167	-1.58;-1.58	5.64	5.64	0.86602	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93353	0.6720	10	0.87932	D	0	.	19.7025	0.96060	0.0:0.0:1.0:0.0	.	919;970	B7ZM37;Q13370	.;PDE3B_HUMAN	S	970;919	ENSP00000282096:G970S;ENSP00000388644:G919S	ENSP00000282096:G970S	G	+	1	0	PDE3B	14845649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.664000	0.90586	0.561000	0.74099	GGT		PASS	0.393	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		23	36	23	36	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18313248	18313248	+	Silent	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:18313248G>A	ENST00000349215.3	-	16	2458	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	HPS5_ENST00000396253.3_Silent_p.C613C|HPS5_ENST00000438420.2_Silent_p.C613C|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	727					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.C727C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGCAATGGCGCATGGAGAAC	0.408									Hermansky-Pudlak syndrome																													uc001mod.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2179-2181)TGC>TGT		Hermansky-Pudlak syndrome 5 isoform a							170.0	159.0	163.0					11																	18313248		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313248G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2181C>T	11.37:g.18313248G>A						HPS5_uc001moe.1_Silent_p.C613C|HPS5_uc001mof.1_Silent_p.C613C	p.C727C	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			16	2459	-			727					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.2181C>T	CCDS7836.1																																																																																				PASS	0.408	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		4	91	4	91	---	---	---	---
ARL14EP	120534	broad.mit.edu	37	11	30358242	30358242	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:30358242C>A	ENST00000282032.3	+	4	898	c.683C>A	c.(682-684)tCt>tAt	p.S228Y		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	228	Cys-rich.					cytoplasm (GO:0005737)		p.S228Y(1)									GCCTGTGGTTCTACCAAGTGT	0.448																																						uc001mso.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)TCT>TAT		hypothetical protein LOC120534							221.0	184.0	197.0					11																	30358242		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30358242C>A	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.683C>A	11.37:g.30358242C>A	ENSP00000282032:p.Ser228Tyr					C11orf46_uc001msp.2_5'Flank	p.S228Y	NM_152316	NP_689529	Q8N8R7	CK046_HUMAN			4	847	+			228			Cys-rich.		Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.683C>A	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150699	0.94645	.	.	ENSG00000152219	ENST00000282032	T	0.78126	-1.15	5.65	5.65	0.86999	.	0.106859	0.64402	D	0.000003	D	0.89227	0.6655	M	0.81112	2.525	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.89669	0.3882	10	0.87932	D	0	-39.1373	20.0965	0.97849	0.0:1.0:0.0:0.0	.	228	Q8N8R7	CK046_HUMAN	Y	228	ENSP00000282032:S228Y	ENSP00000282032:S228Y	S	+	2	0	C11orf46	30314818	1.000000	0.71417	0.869000	0.34112	0.991000	0.79684	7.770000	0.85390	2.824000	0.97209	0.655000	0.94253	TCT		PASS	0.448	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		45	103	45	103	---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36440842	36440842	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:36440842G>A	ENST00000378867.3	+	5	638	c.283G>A	c.(283-285)Gac>Aac	p.D95N	PRR5L_ENST00000527487.1_Missense_Mutation_p.D95N|PRR5L_ENST00000530639.1_Missense_Mutation_p.D95N|PRR5L_ENST00000311599.5_Missense_Mutation_p.D69N|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	95					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.D95N(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						ATTCATTACAGACTATTTTCA	0.483																																						uc001mwo.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GAC>AAC		protor-2 isoform a							200.0	175.0	183.0					11																	36440842		2202	4298	6500	SO:0001583	missense	79899							g.chr11:36440842G>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.283G>A	11.37:g.36440842G>A	ENSP00000368144:p.Asp95Asn					PRR5L_uc001mwp.2_Missense_Mutation_p.D95N|PRR5L_uc009ykk.2_Missense_Mutation_p.D14N|PRR5L_uc010rfc.1_Missense_Mutation_p.D95N	p.D95N	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN			4	672	+			95					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.283G>A	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776049	0.90195	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867;ENST00000527487	T;T;T;T	0.77358	1.61;1.62;1.61;-1.09	4.34	4.34	0.51931	.	0.054029	0.64402	D	0.000001	D	0.85039	0.5606	M	0.61703	1.905	0.46478	D	0.999069	D;D;D	0.89917	0.999;0.969;1.0	D;P;D	0.75484	0.976;0.776;0.986	D	0.86313	0.1687	10	0.87932	D	0	3.9295	12.5755	0.56362	0.0:0.0:1.0:0.0	.	95;14;95	E9PKY1;Q6MZQ0-3;Q6MZQ0	.;.;PRR5L_HUMAN	N	95;69;95;95	ENSP00000435050:D95N;ENSP00000310103:D69N;ENSP00000368144:D95N;ENSP00000435241:D95N	ENSP00000310103:D69N	D	+	1	0	PRR5L	36397418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.912000	0.63335	2.414000	0.81942	0.555000	0.69702	GAC		PASS	0.483	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		31	46	31	46	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56019884	56019884	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:56019884T>A	ENST00000303059.3	+	1	209	c.209T>A	c.(208-210)aTa>aAa	p.I70K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I70K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTACCTTGATAGGCAATTTA	0.373																																						uc010rjd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)ATA>AAA		olfactory receptor, family 5, subfamily T,							100.0	100.0	100.0					11																	56019884		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019884T>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.209T>A	11.37:g.56019884T>A	ENSP00000305403:p.Ile70Lys						p.I70K	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	209	+	Esophageal squamous(21;0.00448)		70			Helical; Name=1; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.209T>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	T	7.925	0.739480	0.15642	.	.	ENSG00000172489	ENST00000303059	T	0.04275	3.66	3.99	2.84	0.33178	.	1.059440	0.07483	U	0.904242	T	0.10294	0.0252	M	0.75884	2.315	0.09310	N	1	B	0.32893	0.389	B	0.40038	0.317	T	0.39187	-0.9626	10	0.87932	D	0	.	3.7942	0.08733	0.1643:0.1659:0.0:0.6698	.	70	Q8NGG3	OR5T3_HUMAN	K	70	ENSP00000305403:I70K	ENSP00000305403:I70K	I	+	2	0	OR5T3	55776460	0.001000	0.12720	0.068000	0.19968	0.024000	0.10985	1.073000	0.30691	0.853000	0.35312	0.523000	0.50628	ATA		PASS	0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		21	51	21	51	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020603	56020603	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:56020603A>G	ENST00000303059.3	+	1	928	c.928A>G	c.(928-930)Att>Gtt	p.I310V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I310V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATTTTACACAATTGTGATTCC	0.343																																						uc010rjd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)ATT>GTT		olfactory receptor, family 5, subfamily T,							94.0	87.0	89.0					11																	56020603		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020603A>G	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.928A>G	11.37:g.56020603A>G	ENSP00000305403:p.Ile310Val						p.I310V	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	928	+	Esophageal squamous(21;0.00448)		310			Helical; Name=7; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.928A>G	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	A	1.724	-0.495768	0.04291	.	.	ENSG00000172489	ENST00000303059	T	0.00014	9.22	4.32	0.264	0.15607	GPCR, rhodopsin-like superfamily (1);	0.291340	0.24403	N	0.038832	T	0.00039	0.0001	N	0.00778	-1.195	0.21897	N	0.99949	B	0.21905	0.062	B	0.33960	0.173	T	0.41197	-0.9522	10	0.02654	T	1	.	5.1856	0.15182	0.5059:0.2656:0.2284:0.0	.	310	Q8NGG3	OR5T3_HUMAN	V	310	ENSP00000305403:I310V	ENSP00000305403:I310V	I	+	1	0	OR5T3	55777179	0.000000	0.05858	0.985000	0.45067	0.923000	0.55619	-2.639000	0.00865	0.266000	0.21894	0.523000	0.50628	ATT		PASS	0.343	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		21	55	21	55	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56954920	56954920	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:56954920G>T	ENST00000497933.1	+	2	1139	c.992G>T	c.(991-993)cGc>cTc	p.R331L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	301					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R331H(1)|p.R331L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCTGCCACCGCTGGAGCAAG	0.587																																						uc001njl.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(991-993)CGC>CTC		leucine rich repeat containing 55							97.0	75.0	82.0					11																	56954920		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56954920G>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.992G>T	11.37:g.56954920G>T	ENSP00000419542:p.Arg331Leu					LRRC55_uc001njm.1_5'Flank	p.R331L	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			2	1139	+			301					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.992G>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269422	0.95429	.	.	ENSG00000183908	ENST00000497933	T	0.26067	1.76	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000009	T	0.40862	0.1134	L	0.36672	1.1	0.53688	D	0.99997	D	0.57571	0.98	P	0.62813	0.907	T	0.10636	-1.0621	10	0.72032	D	0.01	.	17.0602	0.86546	0.0:0.0:1.0:0.0	.	301	Q6ZSA7	LRC55_HUMAN	L	331	ENSP00000419542:R331L	ENSP00000419542:R331L	R	+	2	0	LRRC55	56711496	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.456000	0.90359	2.769000	0.95229	0.563000	0.77884	CGC		PASS	0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		6	15	6	15	---	---	---	---
GAL3ST3	89792	broad.mit.edu	37	11	65810520	65810520	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:65810520G>A	ENST00000312006.4	-	3	1035	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R252W	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	252					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.R252W(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGTAGGCGCCGCAGCAGCACT	0.706																																						uc001ogv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(754-756)CGG>TGG		galactose-3-O-sulfotransferase 3							24.0	25.0	25.0					11																	65810520		2201	4296	6497	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810520G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.754C>T	11.37:g.65810520G>A	ENSP00000308591:p.Arg252Trp					GAL3ST3_uc001ogw.2_Missense_Mutation_p.R252W	p.R252W	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN			2	914	-			252			Lumenal (Potential).		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.754C>T	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	g	18.80	3.701225	0.68501	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.19250	2.16;2.16	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000001	T	0.47173	0.1431	M	0.86178	2.8	0.37914	D	0.931467	D	0.89917	1.0	D	0.74674	0.984	T	0.58008	-0.7712	10	0.87932	D	0	-27.6544	10.1728	0.42920	0.0:0.0:0.8009:0.1991	.	252	Q96A11	G3ST3_HUMAN	W	252	ENSP00000308591:R252W;ENSP00000434829:R252W	ENSP00000308591:R252W	R	-	1	2	GAL3ST3	65567096	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	2.046000	0.41260	2.153000	0.67306	0.556000	0.70494	CGG		PASS	0.706	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		17	16	17	16	---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65820501	65820501	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:65820501G>T	ENST00000322535.6	+	3	233	c.184G>T	c.(184-186)Ggc>Tgc	p.G62C	snoU13_ENST00000459530.1_RNA|SF3B2_ENST00000528302.1_Missense_Mutation_p.G62C	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	62					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.G62C(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						TTTGCAGACTGGCATCGTGCT	0.498																																						uc001ogy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(184-186)GGC>TGC		splicing factor 3B subunit 2							197.0	198.0	197.0					11																	65820501		2201	4296	6497	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65820501G>T	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.184G>T	11.37:g.65820501G>T	ENSP00000318861:p.Gly62Cys					SF3B2_uc001ogx.1_Missense_Mutation_p.G62C	p.G62C	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			3	224	+			62					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.184G>T	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649979	0.87958	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000355456;ENST00000530322	.	.	.	5.27	5.27	0.74061	.	0.253395	0.39274	N	0.001411	T	0.62804	0.2458	N	0.19112	0.55	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66842	-0.5821	9	0.87932	D	0	-15.3663	14.261	0.66085	0.0:0.0:1.0:0.0	.	62;62	Q13435;E9PJ04	SF3B2_HUMAN;.	C	62;62;62;62;64;57	.	ENSP00000318861:G62C	G	+	1	0	SF3B2	65577077	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.466000	0.66731	2.722000	0.93159	0.655000	0.94253	GGC		PASS	0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			36	97	36	97	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76893183	76893183	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:76893183G>A	ENST00000409709.3	+	24	3363	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MYO7A_ENST00000409893.1_Missense_Mutation_p.D1031N|MYO7A_ENST00000409619.2_Missense_Mutation_p.D1020N|MYO7A_ENST00000458637.2_Missense_Mutation_p.D1031N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1031	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.D1031N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTACCATGACGACGAGGGTGA	0.607																																						uc001oyb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(3091-3093)GAC>AAC		myosin VIIA isoform 1							46.0	53.0	50.0					11																	76893183		2102	4207	6309	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76893183G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3091G>A	11.37:g.76893183G>A	ENSP00000386331:p.Asp1031Asn					MYO7A_uc010rsl.1_Missense_Mutation_p.D1031N|MYO7A_uc010rsm.1_Missense_Mutation_p.D1020N|MYO7A_uc001oyc.2_Missense_Mutation_p.D1031N|MYO7A_uc001oyd.2_Missense_Mutation_p.D371N|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.D242N	p.D1031N	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			24	3363	+			1031			MyTH4 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.3091G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.113901	0.56398	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.88046	-2.27;-2.33;-2.28;-2.3;-2.12	5.3	5.3	0.74995	MyTH4 domain (2);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	N	0.20845	0.615	0.80722	D	1	B;B;B;B	0.10296	0.001;0.0;0.003;0.001	B;B;B;B	0.12156	0.002;0.001;0.007;0.002	T	0.73357	-0.4008	10	0.19147	T	0.46	.	18.9577	0.92665	0.0:0.0:1.0:0.0	.	1031;1020;1031;1031	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	N	1031;1031;1031;1020;242;1030;1030;907;1030;212	ENSP00000386331:D1031N;ENSP00000386689:D1031N;ENSP00000392185:D1031N;ENSP00000386635:D1020N;ENSP00000417017:D212N	ENSP00000345075:D907N	D	+	1	0	MYO7A	76570831	1.000000	0.71417	0.091000	0.20842	0.866000	0.49608	9.476000	0.97823	2.477000	0.83638	0.549000	0.68633	GAC		PASS	0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		11	16	11	16	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106681023	106681023	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:106681023T>A	ENST00000526355.2	-	5	1856	c.1388A>T	c.(1387-1389)gAt>gTt	p.D463V	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.D484V|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.D463V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	463					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.D463V(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CTTCAACCCATCTTGGGCCTT	0.453																																						uc001pjg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1387-1389)GAT>GTT		guanylate cyclase 1, soluble, alpha 2							108.0	111.0	110.0					11																	106681023		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106681023T>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1388A>T	11.37:g.106681023T>A	ENSP00000431245:p.Asp463Val					GUCY1A2_uc010rvo.1_Missense_Mutation_p.D484V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.D463V	p.D463V	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1778	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	463					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1388A>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096741	0.76870	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87887	-2.31;-2.31;-2.31	5.47	5.47	0.80525	Haem NO binding associated (1);	0.000000	0.46442	U	0.000291	D	0.91033	0.7179	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.99;0.999;0.99	D	0.88453	0.3050	10	0.16420	T	0.52	.	14.7305	0.69377	0.0:0.0:0.0:1.0	.	484;463;463	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	V	463;463;484	ENSP00000431245:D463V;ENSP00000282249:D463V;ENSP00000344874:D484V	ENSP00000282249:D463V	D	-	2	0	GUCY1A2	106186233	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	2.071000	0.62044	0.528000	0.53228	GAT		PASS	0.453	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			24	46	24	46	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117301686	117301686	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:117301686C>A	ENST00000321322.6	-	32	5619	c.5618G>T	c.(5617-5619)cGg>cTg	p.R1873L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1603L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1813					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R1873L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTCATAGGCCCGGGCCAGCTC	0.567																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5617-5619)CGG>CTG		Down syndrome cell adhesion molecule like 1							153.0	141.0	145.0					11																	117301686		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301686C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5618G>T	11.37:g.117301686C>A	ENSP00000315465:p.Arg1873Leu						p.R1873L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5620	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1813			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5618G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001165	0.93227	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.71579	-0.52;-0.58	5.04	5.04	0.67666	.	.	.	.	.	T	0.77212	0.4097	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80317	-0.1433	9	0.87932	D	0	.	18.5658	0.91116	0.0:1.0:0.0:0.0	.	1813	Q8TD84	DSCL1_HUMAN	L	1603;1873;1580	ENSP00000434335:R1603L;ENSP00000315465:R1873L	ENSP00000315465:R1873L	R	-	2	0	DSCAML1	116806896	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.651000	0.83577	2.628000	0.89032	0.591000	0.81541	CGG		PASS	0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		41	60	41	60	---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120317760	120317760	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:120317760G>A	ENST00000397843.2	+	18	1721	c.1555G>A	c.(1555-1557)Gca>Aca	p.A519T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.A416T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A500T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	519	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A519T(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCGGACATGTGCAGAACAGAT	0.438			T	MLL	AML																																	uc001pxl.1				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(1555-1557)GCA>ACA		Rho guanine nucleotide exchange factor (GEF) 12							145.0	137.0	140.0					11																	120317760		1964	4165	6129	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120317760G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1555G>A	11.37:g.120317760G>A	ENSP00000380942:p.Ala519Thr					ARHGEF12_uc009zat.2_Missense_Mutation_p.A500T|ARHGEF12_uc010rzn.1_Missense_Mutation_p.A416T|ARHGEF12_uc009zau.1_Missense_Mutation_p.A416T	p.A519T	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	18	1562	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	519			RGSL.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.1555G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750711	0.96890	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.85861	-2.04;-2.04;-2.04	5.33	5.33	0.75918	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.46145	D	0.000317	D	0.93145	0.7817	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.93524	0.6864	10	0.66056	D	0.02	-16.578	19.3777	0.94518	0.0:0.0:1.0:0.0	.	416;500;519	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	T	519;500;416	ENSP00000380942:A519T;ENSP00000349056:A500T;ENSP00000432984:A416T	ENSP00000349056:A500T	A	+	1	0	ARHGEF12	119822970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.314000	0.96306	2.655000	0.90218	0.650000	0.86243	GCA		PASS	0.438	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		19	55	19	55	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121485765	121485765	+	Splice_Site	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:121485765G>T	ENST00000260197.7	+	41	5733		c.e41+1		SORL1_ENST00000534286.1_Splice_Site|SORL1_ENST00000527934.1_Splice_Site|SORL1_ENST00000532694.1_Splice_Site|SORL1_ENST00000525532.1_Splice_Site	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCGGAATGTGGTGAGTCAGCC	0.542																																						uc001pxx.2																			1	Unknown(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.e41+1		sortilin-related receptor containing LDLR class							69.0	59.0	62.0					11																	121485765		2202	4299	6501	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121485765G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5604+1G>T	11.37:g.121485765G>T						SORL1_uc010rzp.1_Splice_Site_p.V714_splice|SORL1_uc010rzq.1_Splice_Site_p.V483_splice	p.V1868_splice	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	41	5684	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)						B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	c.5604_splice	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594292	0.66219	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9003	0.96983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORL1	120990975	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	7.631000	0.83237	2.808000	0.96608	0.655000	0.94253	.		PASS	0.542	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Intron	3	23	3	23	---	---	---	---
CLMP	79827	broad.mit.edu	37	11	122945410	122945410	+	Splice_Site	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:122945410C>T	ENST00000448775.2	-	6	1161	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	274					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R274Q(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GGAGGTTTACCGAATTTCATT	0.448																																						uc001pyt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)CGA>CAA		adipocyte-specific adhesion molecule precursor							244.0	231.0	235.0					11																	122945410		2202	4299	6501	SO:0001630	splice_region_variant	79827					integral to membrane|tight junction		g.chr11:122945410C>T	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.821+1G>A	11.37:g.122945410C>T							p.R274Q	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	6	1180	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	274			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000448775.2	37	c.821G>A	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350241	0.95830	.	.	ENSG00000166250	ENST00000448775	T	0.76578	-1.03	5.63	5.63	0.86233	.	0.049247	0.85682	D	0.000000	D	0.87807	0.6270	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86597	0.1864	9	.	.	.	.	19.6937	0.96012	0.0:1.0:0.0:0.0	.	274	Q9H6B4	CLMP_HUMAN	Q	274	ENSP00000405577:R274Q	.	R	-	2	0	CLMP	122450620	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.367000	0.73099	2.665000	0.90641	0.655000	0.94253	CGA		PASS	0.448	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769	Missense_Mutation	59	163	59	163	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123901029	123901029	+	Missense_Mutation	SNP	C	C	A	rs374210623		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr11:123901029C>A	ENST00000431524.1	+	1	733	c.700C>A	c.(700-702)Cac>Aac	p.H234N		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H234N(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGAGGGGAAGCACAGAGCCTT	0.547																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(700-702)CAC>AAC		olfactory receptor, family 10, subfamily G,							178.0	150.0	159.0					11																	123901029		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901029C>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.700C>A	11.37:g.123901029C>A	ENSP00000389072:p.His234Asn						p.H234N	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	700	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	234			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.700C>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	0.573	-0.840517	0.02692	.	.	ENSG00000234560	ENST00000431524	T	0.00207	8.55	2.91	0.935	0.19483	GPCR, rhodopsin-like superfamily (1);	2.157860	0.01938	N	0.041731	T	0.00300	0.0009	L	0.52364	1.645	0.09310	N	1	B	0.26602	0.154	B	0.35182	0.197	T	0.51180	-0.8738	10	0.72032	D	0.01	.	10.8782	0.46923	0.0:0.8109:0.0:0.1891	.	234	Q8NGN5	O10G8_HUMAN	N	234	ENSP00000389072:H234N	ENSP00000389072:H234N	H	+	1	0	OR10G8	123406239	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.807000	0.00757	-0.168000	0.10853	-1.151000	0.01829	CAC		PASS	0.547	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		18	53	18	53	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2927299	2927299	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:2927299G>T	ENST00000228799.2	+	4	401	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C	ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_Intron	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	88					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.G88C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAGTGCTGAAGGCTGGTTTCA	0.507																																						uc001qlb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)GGC>TGC		integrin alpha FG-GAP repeat containing 2							151.0	147.0	148.0					12																	2927299		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2927299G>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.262G>T	12.37:g.2927299G>T	ENSP00000228799:p.Gly88Cys					ITFG2_uc001qla.1_Missense_Mutation_p.G88C|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA	p.G88C	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		4	326	+			88					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.262G>T	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681221	0.88542	.	.	ENSG00000111203	ENST00000228799	T	0.79940	-1.32	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.90212	0.6940	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.95	D	0.91799	0.5450	10	0.87932	D	0	-1.9979	16.7762	0.85551	0.0:0.0:1.0:0.0	.	88;88	Q969R8;Q6PKU5	ITFG2_HUMAN;.	C	88	ENSP00000228799:G88C	ENSP00000228799:G88C	G	+	1	0	ITFG2	2797560	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.611000	0.98342	2.430000	0.82344	0.655000	0.94253	GGC		PASS	0.507	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		29	49	29	49	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295832	7295832	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:7295832A>G	ENST00000266546.6	+	12	2222	c.1772A>G	c.(1771-1773)cAg>cGg	p.Q591R	CLSTN3_ENST00000537408.1_Missense_Mutation_p.Q603R	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	591					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Q591R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CATGCCCTGCAGCATGTGGCT	0.617																																						uc001qsr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1771-1773)CAG>CGG		calsyntenin 3 precursor							133.0	121.0	125.0					12																	7295832		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7295832A>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1772A>G	12.37:g.7295832A>G	ENSP00000266546:p.Gln591Arg					CLSTN3_uc001qss.2_Missense_Mutation_p.Q603R	p.Q591R	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			12	2050	+			591			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1772A>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627925	0.46944	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.34859	1.34;1.34	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	L	0.37697	1.125	0.80722	D	1	D;B	0.54601	0.967;0.089	D;B	0.65140	0.932;0.062	T	0.22417	-1.0217	10	0.15066	T	0.55	-27.3179	15.0982	0.72253	1.0:0.0:0.0:0.0	.	603;591	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	R	591;603	ENSP00000266546:Q591R;ENSP00000440679:Q603R	ENSP00000266546:Q591R	Q	+	2	0	CLSTN3	7187099	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.710000	0.91388	1.964000	0.57103	0.379000	0.24179	CAG		PASS	0.617	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		39	72	39	72	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22065959	22065959	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:22065959C>A	ENST00000261201.4	-	6	857	c.858G>T	c.(856-858)tgG>tgT	p.W286C	ABCC9_ENST00000261200.4_Missense_Mutation_p.W286C|ABCC9_ENST00000345162.2_Missense_Mutation_p.W286C	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	286					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.W286C(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACATTGCAAGCCATATAGATG	0.373																																						uc001rfi.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(856-858)TGG>TGT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						89.0	94.0	92.0					12																	22065959		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22065959C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.858G>T	12.37:g.22065959C>A	ENSP00000261201:p.Trp286Cys					ABCC9_uc001rfh.2_Missense_Mutation_p.W286C|ABCC9_uc001rfj.1_Missense_Mutation_p.W286C	p.W286C	NM_005691	NP_005682	O60706	ABCC9_HUMAN			6	878	-			286			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.858G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159222	0.78226	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.94376	-3.41;-3.41;-3.41	4.9	4.9	0.64082	ABC transporter, transmembrane domain, type 1 (1);	0.057110	0.85682	D	0.000000	D	0.96738	0.8935	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.69479	0.927;0.964	D	0.97226	0.9881	10	0.72032	D	0.01	-8.2323	18.2694	0.90063	0.0:1.0:0.0:0.0	.	286;286	O60706;O60706-2	ABCC9_HUMAN;.	C	286	ENSP00000261200:W286C;ENSP00000261201:W286C;ENSP00000261202:W286C	ENSP00000261200:W286C	W	-	3	0	ABCC9	21957226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.513000	0.81739	2.545000	0.85829	0.585000	0.79938	TGG		PASS	0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		17	40	17	40	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62954653	62954653	+	Silent	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:62954653A>T	ENST00000393632.2	+	26	4183	c.3792A>T	c.(3790-3792)ctA>ctT	p.L1264L	MON2_ENST00000393630.3_Silent_p.L1265L|MON2_ENST00000393629.2_Silent_p.L1264L|MON2_ENST00000552738.1_Silent_p.L1241L|MON2_ENST00000546600.1_Silent_p.L1264L|MON2_ENST00000280379.6_Silent_p.L1265L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1264					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L1264L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGATAAACTAACTTTTATTC	0.368																																						uc001sre.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(3790-3792)CTA>CTT		MON2 homolog							109.0	107.0	108.0					12																	62954653		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62954653A>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3792A>T	12.37:g.62954653A>T						MON2_uc009zqj.2_Silent_p.L1264L|MON2_uc010ssl.1_Silent_p.L1192L|MON2_uc010ssm.1_Silent_p.L1241L|MON2_uc010ssn.1_Silent_p.L1264L|MON2_uc001srf.2_Silent_p.L1027L|MON2_uc001srg.2_Silent_p.L139L	p.L1264L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	26	4183	+			1265					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.3792A>T	CCDS31849.1																																																																																				PASS	0.368	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		31	46	31	46	---	---	---	---
TSPAN8	7103	broad.mit.edu	37	12	71519129	71519129	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:71519129C>A	ENST00000393330.2	-	12	1251	c.699G>T	c.(697-699)caG>caT	p.Q233H	TSPAN8_ENST00000247829.3_Missense_Mutation_p.Q233H|TSPAN8_ENST00000546561.1_Missense_Mutation_p.Q233H|TSPAN8_ENST00000552128.1_Missense_Mutation_p.Q150H			P19075	TSN8_HUMAN	tetraspanin 8	233					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q233H(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGTTCCCGATCTGGCAATACA	0.353																																						uc009zrt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(697-699)CAG>CAT		transmembrane 4 superfamily member 3							128.0	119.0	122.0					12																	71519129		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71519129C>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.699G>T	12.37:g.71519129C>A	ENSP00000377003:p.Gln233His					TSPAN8_uc001swk.1_Missense_Mutation_p.Q233H|TSPAN8_uc001swj.1_Missense_Mutation_p.Q233H	p.Q233H	NM_004616	NP_004607	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		8	861	-			233			Cytoplasmic (Potential).		B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.699G>T	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495352	0.64186	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	6.16	1.01	0.19927	.	0.000000	0.37857	U	0.001917	T	0.78502	0.4293	L	0.52126	1.63	0.41829	D	0.990064	D	0.89917	1.0	D	0.91635	0.999	T	0.72547	-0.4260	10	0.28530	T	0.3	.	2.4256	0.04459	0.131:0.5239:0.127:0.2182	.	233	P19075	TSN8_HUMAN	H	233;233;233;150	ENSP00000377003:Q233H;ENSP00000247829:Q233H;ENSP00000447160:Q233H;ENSP00000449820:Q150H	ENSP00000247829:Q233H	Q	-	3	2	TSPAN8	69805396	1.000000	0.71417	0.958000	0.39756	0.889000	0.51656	0.841000	0.27613	0.160000	0.19432	0.650000	0.86243	CAG		PASS	0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		24	36	24	36	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400211	78400211	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:78400211G>T	ENST00000397909.2	+	8	1066	c.893G>T	c.(892-894)gGa>gTa	p.G298V	NAV3_ENST00000228327.6_Missense_Mutation_p.G298V|NAV3_ENST00000536525.2_Missense_Mutation_p.G298V|NAV3_ENST00000266692.7_Missense_Mutation_p.G298V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	298						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G298V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCTCCAAAGGACCTCAATCG	0.438										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(892-894)GGA>GTA		neuron navigator 3							50.0	52.0	52.0					12																	78400211		1949	4137	6086	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400211G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.893G>T	12.37:g.78400211G>T	ENSP00000381007:p.Gly298Val	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G298V	p.G298V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1066	+			298					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.893G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.925186|2.925186	0.52759|0.52759	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97|.	5.82|5.82	3.97|3.97	0.46021|0.46021	.|.	0.189840|.	0.24796|.	U|.	0.035532|.	T|T	0.56630|0.56630	0.1998|0.1998	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;B|.	0.46706|.	0.883;0.026|.	P;B|.	0.45971|.	0.499;0.017|.	T|T	0.50608|0.50608	-0.8808|-0.8808	10|5	0.46703|.	T|.	0.11|.	-8.92|-8.92	13.1352|13.1352	0.59405|0.59405	0.0:0.1231:0.7485:0.1284|0.0:0.1231:0.7485:0.1284	.|.	298;298|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	V|S	298|121	ENSP00000446628:G298V;ENSP00000446132:G298V;ENSP00000381007:G298V;ENSP00000228327:G298V;ENSP00000266692:G298V|.	ENSP00000228327:G298V|.	G|R	+|+	2|3	0|2	NAV3|NAV3	76924342|76924342	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.867000|0.867000	0.49689|0.49689	5.512000|5.512000	0.67030|0.67030	0.782000|0.782000	0.33613|0.33613	-0.304000|-0.304000	0.09214|0.09214	GGA|AGG		PASS	0.438	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	33	14	33	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81110943	81110943	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:81110943C>A	ENST00000228644.3	+	1	253	c.101C>A	c.(100-102)cCg>cAg	p.P34Q		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	34					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.P34Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAGTTTGTGCCGCGAGTGGCT	0.617																																						uc001szg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(100-102)CCG>CAG		myogenic factor 5							43.0	40.0	41.0					12																	81110943		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110943C>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.101C>A	12.37:g.81110943C>A	ENSP00000228644:p.Pro34Gln						p.P34Q	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	236	+			34					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.101C>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876237	0.51801	.	.	ENSG00000111049	ENST00000228644	T	0.78595	-1.19	6.17	6.17	0.99709	Myogenic basic muscle-specific protein (2);	0.176052	0.49305	D	0.000143	T	0.80732	0.4679	M	0.79258	2.445	0.37512	D	0.917173	P	0.43542	0.81	B	0.43575	0.424	D	0.84601	0.0672	10	0.59425	D	0.04	-13.7448	14.6754	0.68975	0.1449:0.8551:0.0:0.0	.	34	P13349	MYF5_HUMAN	Q	34	ENSP00000228644:P34Q	ENSP00000228644:P34Q	P	+	2	0	MYF5	79635074	0.133000	0.22466	0.934000	0.37439	0.786000	0.44442	0.546000	0.23284	2.941000	0.99782	0.655000	0.94253	CCG		PASS	0.617	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		12	15	12	15	---	---	---	---
PARPBP	55010	broad.mit.edu	37	12	102569288	102569288	+	Silent	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr12:102569288G>T	ENST00000358383.5	+	7	894	c.849G>T	c.(847-849)gtG>gtT	p.V283V	PARPBP_ENST00000541394.1_Silent_p.V360V|PARPBP_ENST00000392911.2_Silent_p.V202V|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000327680.2_Silent_p.V202V			Q9NWS1	PARI_HUMAN	PARP1 binding protein	283					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V202V(1)|p.V283V(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TACTGTCAGTGATAAAGATGC	0.333																																						uc001tjf.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(847-849)GTG>GTT		hypothetical protein LOC55010							95.0	97.0	97.0					12																	102569288		2203	4300	6503	SO:0001819	synonymous_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102569288G>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.849G>T	12.37:g.102569288G>T						C12orf48_uc001tjg.2_Silent_p.V202V|C12orf48_uc010swa.1_Silent_p.V360V|C12orf48_uc001tjh.2_Silent_p.V202V|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	p.V283V	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			7	961	+			283					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	ENST00000358383.5	37	c.849G>T	CCDS9090.2																																																																																				PASS	0.333	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		27	41	27	41	---	---	---	---
SKA3	221150	broad.mit.edu	37	13	21742230	21742230	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr13:21742230C>T	ENST00000314759.5	-	4	764	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SKA3_ENST00000400018.3_Missense_Mutation_p.E214K	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	214					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.E214K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTTACACACTCAAAATCATCC	0.328																																						uc001unt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(640-642)GAG>AAG		SKA3							164.0	177.0	173.0					13																	21742230		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21742230C>T	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.640G>A	13.37:g.21742230C>T	ENSP00000319417:p.Glu214Lys					SKA3_uc001unv.2_Missense_Mutation_p.E132K|SKA3_uc001unu.2_Missense_Mutation_p.E214K	p.E214K	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN			4	734	-			214					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.640G>A	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697175	0.88830	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.32753	1.44;1.44	5.76	5.76	0.90799	.	0.167589	0.52532	D	0.000077	T	0.51669	0.1688	M	0.62723	1.935	0.38415	D	0.946034	D;D	0.76494	0.999;0.999	D;P	0.65443	0.935;0.892	T	0.48958	-0.8988	10	0.40728	T	0.16	-12.752	16.6794	0.85288	0.0:1.0:0.0:0.0	.	214;214	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	K	214	ENSP00000319417:E214K;ENSP00000382896:E214K	ENSP00000319417:E214K	E	-	1	0	SKA3	20640230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.480000	0.60243	2.720000	0.93068	0.655000	0.94253	GAG		PASS	0.328	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		43	41	43	41	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33233343	33233343	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr13:33233343A>G	ENST00000315596.10	+	6	736	c.550A>G	c.(550-552)Att>Gtt	p.I184V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	184					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.I184V(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TATGAGCTCTATTATTTGTGA	0.378																																						uc010abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(550-552)ATT>GTT		PDS5, regulator of cohesion maintenance, homolog							218.0	193.0	201.0					13																	33233343		1868	4107	5975	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33233343A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.550A>G	13.37:g.33233343A>G	ENSP00000313851:p.Ile184Val					PDS5B_uc001uuo.2_Missense_Mutation_p.I184V|PDS5B_uc010abg.2_RNA	p.I184V	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	6	708	+		Lung SC(185;0.0367)	184					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.550A>G	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	32	5.121843	0.94429	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.69561	-0.41	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	L	0.52364	1.645	0.80722	D	1	P;P	0.48834	0.916;0.849	P;P	0.55087	0.768;0.455	T	0.66408	-0.5931	10	0.15952	T	0.53	-20.7424	16.3948	0.83586	1.0:0.0:0.0:0.0	.	184;184	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	V	184	ENSP00000313851:I184V	ENSP00000313851:I184V	I	+	1	0	PDS5B	32131343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.165000	0.94761	2.326000	0.78906	0.533000	0.62120	ATT		PASS	0.378	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		40	36	40	36	---	---	---	---
MAB21L1	4081	broad.mit.edu	37	13	36049443	36049443	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr13:36049443A>G	ENST00000379919.4	-	1	1389	c.833T>C	c.(832-834)gTt>gCt	p.V278A	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	278					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.V278A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCGTAGGAAACCAGAGTCTT	0.527																																						uc001uvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(832-834)GTT>GCT		mab-21-like protein 1							87.0	80.0	82.0					13																	36049443		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049443A>G	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.833T>C	13.37:g.36049443A>G	ENSP00000369251:p.Val278Ala					NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.V278A	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1390	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	278					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.833T>C	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952887	0.53293	.	.	ENSG00000180660	ENST00000379919	T	0.09255	3.0	5.76	5.76	0.90799	.	0.057291	0.64402	D	0.000002	T	0.19208	0.0461	L	0.59436	1.845	0.58432	D	0.999999	B	0.20459	0.045	B	0.35413	0.202	T	0.02126	-1.1209	10	0.66056	D	0.02	-54.6209	16.0659	0.80870	1.0:0.0:0.0:0.0	.	278	Q13394	MB211_HUMAN	A	278	ENSP00000369251:V278A	ENSP00000369251:V278A	V	-	2	0	MAB21L1	34947443	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.339000	0.96797	2.209000	0.71365	0.533000	0.62120	GTT		PASS	0.527	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		22	17	22	17	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23862179	23862179	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:23862179G>C	ENST00000356287.3	-	23	3222	c.3193C>G	c.(3193-3195)Cag>Gag	p.Q1065E	MYH6_ENST00000405093.3_Missense_Mutation_p.Q1065E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1065			Q -> H (in CMH14). {ECO:0000269|PubMed:15998695}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.Q1065E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATGCTCTCCTGGGTCAGCTTC	0.542																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(3193-3195)CAG>GAG		myosin heavy chain 6							130.0	114.0	120.0					14																	23862179		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862179G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3193C>G	14.37:g.23862179G>C	ENSP00000348634:p.Gln1065Glu						p.Q1065E	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	24	3260	-	all_cancers(95;2.54e-05)		1065		Q -> H (in CMH14).	Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3193C>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.175865	0.78564	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.94046	-3.34;-3.34	4.82	4.82	0.62117	.	.	.	.	.	D	0.97939	0.9322	H	0.96777	3.88	0.49130	D	0.999751	D	0.61080	0.989	D	0.74348	0.983	D	0.99406	1.0929	9	0.72032	D	0.01	.	18.2902	0.90127	0.0:0.0:1.0:0.0	.	1065	P13533	MYH6_HUMAN	E	1065	ENSP00000386041:Q1065E;ENSP00000348634:Q1065E	ENSP00000348634:Q1065E	Q	-	1	0	MYH6	22932019	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.472000	0.80996	2.391000	0.81399	0.557000	0.71058	CAG		PASS	0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			17	60	17	60	---	---	---	---
CBLN3	643866	broad.mit.edu	37	14	24897140	24897140	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:24897140G>C	ENST00000267406.6	-	3	943	c.473C>G	c.(472-474)cCt>cGt	p.P158R	KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000553935.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank|CBLN3_ENST00000555436.1_Missense_Mutation_p.P107R	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	158	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.P158R(1)		central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GGTCACGTCAGGATCATTGGC	0.632																																						uc001wpg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(472-474)CCT>CGT		cerebellin 3 precursor							75.0	72.0	73.0					14																	24897140		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897140G>C	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.473C>G	14.37:g.24897140G>C	ENSP00000267406:p.Pro158Arg					KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	p.P158R	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	3	944	-			158			Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.			Missense_Mutation	SNP	ENST00000267406.6	37	c.473C>G	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682024	0.29872	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.74632	-0.86;-0.86	5.73	4.83	0.62350	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.51477	D	0.000086	T	0.63248	0.2495	N	0.12961	0.28	0.41978	D	0.99078	P	0.39311	0.667	P	0.45232	0.474	T	0.62530	-0.6835	10	0.30078	T	0.28	-10.1125	11.7012	0.51571	0.0:0.0:0.6783:0.3217	.	158	Q6UW01	CBLN3_HUMAN	R	158;107	ENSP00000267406:P158R;ENSP00000450935:P107R	ENSP00000267406:P158R	P	-	2	0	CBLN3	23966980	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	5.509000	0.67012	1.403000	0.46800	0.561000	0.74099	CCT		PASS	0.632	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		15	21	15	21	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33015113	33015113	+	Missense_Mutation	SNP	G	G	T	rs368322682		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:33015113G>T	ENST00000280979.4	+	4	1424	c.1254G>T	c.(1252-1254)aaG>aaT	p.K418N	AKAP6_ENST00000557354.1_Missense_Mutation_p.K418N|AKAP6_ENST00000557272.1_Missense_Mutation_p.K418N	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	418					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.K418N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTGATCTAAAGCCTGAGATGA	0.453																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(1252-1254)AAG>AAT		A-kinase anchor protein 6							148.0	157.0	154.0					14																	33015113		2200	4300	6500	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015113G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1254G>T	14.37:g.33015113G>T	ENSP00000280979:p.Lys418Asn					AKAP6_uc010aml.2_Missense_Mutation_p.K415N	p.K418N	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1424	+	Breast(36;0.0388)|Prostate(35;0.15)		418					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.1254G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845101	0.32606	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.6	2.77	0.32553	.	0.000000	0.64402	D	0.000002	T	0.31670	0.0804	M	0.62723	1.935	0.39241	D	0.963865	B;P	0.42692	0.012;0.787	B;B	0.36134	0.009;0.218	T	0.27606	-1.0069	10	0.62326	D	0.03	-18.042	9.825	0.40905	0.2798:0.0:0.7202:0.0	.	418;418	A7E242;Q13023	.;AKAP6_HUMAN	N	418;418;418;176	ENSP00000280979:K418N;ENSP00000450531:K418N;ENSP00000451247:K418N;ENSP00000451239:K176N	ENSP00000280979:K418N	K	+	3	2	AKAP6	32084864	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.155000	0.31700	0.728000	0.32382	-0.136000	0.14681	AAG		PASS	0.453	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		64	103	64	103	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42357212	42357212	+	Splice_Site	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:42357212A>G	ENST00000298119.4	+	3	2573	c.1384A>G	c.(1384-1386)Aga>Gga	p.R462G	LRFN5_ENST00000554171.1_Splice_Site_p.R462G|LRFN5_ENST00000554120.1_Splice_Site_p.R462G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	462	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.R462G(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)		CCTTGTTTACAGGTAAGAAAA	0.318										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1384-1386)AGA>GGA		leucine rich repeat and fibronectin type III							25.0	26.0	26.0					14																	42357212		2197	4294	6491	SO:0001630	splice_region_variant	145581					integral to membrane		g.chr14:42357212A>G	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.1385+1A>G	14.37:g.42357212A>G		HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.R462G	p.R462G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2582	+			462			Extracellular (Potential).|Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1384A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156284	0.57259	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69040	-0.37;0.09;0.23	5.27	5.27	0.74061	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.81088	0.4750	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.971	D	0.83386	0.0015	10	0.66056	D	0.02	.	13.4248	0.61020	1.0:0.0:0.0:0.0	.	462;462	G3V364;Q96NI6	.;LRFN5_HUMAN	G	462	ENSP00000298119:R462G;ENSP00000451897:R462G;ENSP00000451067:R462G	ENSP00000298119:R462G	R	+	1	2	LRFN5	41426962	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.287000	0.95975	2.110000	0.64415	0.379000	0.24179	AGA		PASS	0.318	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	Missense_Mutation	6	25	6	25	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975317	44975317	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:44975317G>T	ENST00000340446.4	-	1	1165	c.874C>A	c.(874-876)Caa>Aaa	p.Q292K	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	292						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.Q292K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGCTGTACTTGGACATGGGTC	0.517																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(874-876)CAA>AAA		fibrous sheath CABYR binding protein							54.0	54.0	54.0					14																	44975317		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975317G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.874C>A	14.37:g.44975317G>T	ENSP00000344579:p.Gln292Lys						p.Q292K	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1183	-			292					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.874C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	6.546	0.469052	0.12461	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.23552	1.9	3.58	-0.627	0.11541	.	.	.	.	.	T	0.15825	0.0381	L	0.38175	1.15	0.09310	N	1	B	0.28713	0.22	B	0.23574	0.047	T	0.22906	-1.0203	9	0.49607	T	0.09	.	3.5025	0.07679	0.114:0.3399:0.4173:0.1289	.	292	Q5H9T9	FSCB_HUMAN	K	292	ENSP00000344579:Q292K	ENSP00000344579:Q292K	Q	-	1	0	FSCB	44045067	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.034000	0.03567	-0.015000	0.14150	-0.156000	0.13503	CAA		PASS	0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		19	46	19	46	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52493960	52493960	+	Missense_Mutation	SNP	G	G	T	rs147631741		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:52493960G>T	ENST00000216286.5	-	12	2632	c.2633C>A	c.(2632-2634)gCc>gAc	p.A878D	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	878	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.A878D(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGCAGGCAGGCACAGCTGAA	0.597																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(2632-2634)GCC>GAC		nidogen 2 precursor							40.0	36.0	37.0					14																	52493960		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52493960G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2633C>A	14.37:g.52493960G>T	ENSP00000216286:p.Ala878Asp					NID2_uc010tqs.1_Intron|NID2_uc010tqt.1_Missense_Mutation_p.A878D|NID2_uc001wzp.2_Missense_Mutation_p.A878D	p.A878D	NM_007361	NP_031387	Q14112	NID2_HUMAN			12	2867	-	Breast(41;0.0639)|all_epithelial(31;0.123)		878			EGF-like 4.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2633C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044087	0.55110	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000395707	D	0.94931	-3.56	5.98	2.83	0.33086	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	1.115860	0.06492	N	0.734704	D	0.91310	0.7260	M	0.62209	1.925	0.26081	N	0.981097	B;P;B	0.36086	0.157;0.536;0.107	B;B;B	0.35971	0.065;0.215;0.065	T	0.81876	-0.0731	10	0.20519	T	0.43	.	3.166	0.06536	0.2302:0.0:0.4307:0.3391	.	472;880;878	E7EPP3;Q5CZI2;Q14112	.;.;NID2_HUMAN	D	878;472;880	ENSP00000216286:A878D	ENSP00000216286:A878D	A	-	2	0	NID2	51563710	0.595000	0.26857	0.899000	0.35326	0.615000	0.37417	0.793000	0.26944	1.538000	0.49270	0.563000	0.77884	GCC		PASS	0.597	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			5	14	5	14	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52534714	52534714	+	Silent	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:52534714C>T	ENST00000216286.5	-	2	395	c.396G>A	c.(394-396)gtG>gtA	p.V132V	NID2_ENST00000541773.1_Silent_p.V79V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	132	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.V132V(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCAGGCCCAGCACTGCGGGGG	0.697																																						uc001wzo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(394-396)GTG>GTA		nidogen 2 precursor							29.0	34.0	32.0					14																	52534714		2202	4300	6502	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52534714C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.396G>A	14.37:g.52534714C>T						NID2_uc010tqs.1_Silent_p.V132V|NID2_uc010tqt.1_Silent_p.V132V|NID2_uc001wzp.2_Silent_p.V132V	p.V132V	NM_007361	NP_031387	Q14112	NID2_HUMAN			2	630	-	Breast(41;0.0639)|all_epithelial(31;0.123)		132			NIDO.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.396G>A	CCDS9706.1																																																																																				PASS	0.697	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			24	34	24	34	---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67588971	67588971	+	Splice_Site	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:67588971A>G	ENST00000315266.5	+	16	2648		c.e16-1		GPHN_ENST00000544752.2_Splice_Site|GPHN_ENST00000543237.1_Splice_Site|GPHN_ENST00000305960.9_Splice_Site|GPHN_ENST00000478722.1_Splice_Site	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin						establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.?(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTGGCTTTGTAGCTGCTAAAT	0.373			T	MLL	AL																																	uc001xiy.2				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		1	Unknown(1)		lung(1)	ovary(2)	2						c.e16-2		gephyrin isoform 2							105.0	97.0	100.0					14																	67588971		2203	4300	6503	SO:0001630	splice_region_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67588971A>G	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1528-1A>G	14.37:g.67588971A>G						GPHN_uc001xix.2_Splice_Site_p.L543_splice|GPHN_uc010tss.1_Splice_Site_p.L556_splice|GPHN_uc010tst.1_Splice_Site_p.L479_splice|GPHN_uc010tsu.1_Splice_Site_p.L433_splice	p.L510_splice	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	16	2649	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)						Q9H4E9|Q9P2G2	Splice_Site	SNP	ENST00000315266.5	37	c.1528_splice	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736150	0.89482	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPHN	66658724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	.		PASS	0.373	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	Intron	3	55	3	55	---	---	---	---
IFT43	112752	broad.mit.edu	37	14	76549569	76549569	+	Splice_Site	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:76549569G>A	ENST00000314067.6	+	8	478		c.e8-1		IFT43_ENST00000238628.6_Splice_Site	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						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.?(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCATTCACAGGATGGGGAGA	0.532																																						uc010asm.1																			2	Unknown(2)		lung(2)		0						c.e8-1		hypothetical protein LOC112752 isoform 2							82.0	85.0	84.0					14																	76549569		2203	4300	6503	SO:0001630	splice_region_variant	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76549569G>A	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.445-1G>A	14.37:g.76549569G>A						C14orf179_uc001xsg.2_Splice_Site_p.D154_splice|C14orf179_uc010tve.1_Splice_Site	p.D149_splice	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	8	479	+								B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Splice_Site	SNP	ENST00000314067.6	37	c.445_splice	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403697	0.83230	.	.	ENSG00000119650	ENST00000314067;ENST00000238628	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4094	0.94662	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT43	75619322	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.031000	0.93731	2.583000	0.87209	0.561000	0.74099	.		PASS	0.532	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873	Intron	11	16	11	16	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92471524	92471524	+	Silent	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:92471524A>T	ENST00000267622.4	-	11	3169	c.2796T>A	c.(2794-2796)tcT>tcA	p.S932S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	932					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.S932S(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTCTTGTAAAGACTGAAGTA	0.373			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2794-2796)TCT>TCA		thyroid hormone receptor interactor 11							212.0	197.0	202.0					14																	92471524		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471524A>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2796T>A	14.37:g.92471524A>T						TRIP11_uc010auf.1_Silent_p.S668S	p.S932S	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3584	-			932			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.2796T>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	A	1.379	-0.583859	0.03827	.	.	ENSG00000100815	ENST00000554357	.	.	.	6.08	2.44	0.29823	.	.	.	.	.	T	0.51805	0.1696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	4	.	.	.	.	4.6255	0.12476	0.6103:0.0:0.2559:0.1338	.	.	.	.	I	648	.	.	F	-	1	0	TRIP11	91541277	0.984000	0.35163	0.961000	0.40146	0.440000	0.31957	0.956000	0.29202	0.182000	0.20032	-0.256000	0.11100	TTT		PASS	0.373	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			40	81	40	81	---	---	---	---
IGHV4-59	28392	broad.mit.edu	37	14	107083459	107083459	+	RNA	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr14:107083459T>A	ENST00000455737.1	-	0	184									immunoglobulin heavy variable 4-59																		TAGTAACTACTGATGGAGCCA	0.597																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							80.0	81.0	81.0					14																	107083459		1864	4097	5961			8755							g.chr14:107083459T>A	L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083459T>A														113		-									RNA	SNP	ENST00000455737.1	37	c.5334A>T																																																																																					PASS	0.597	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019		17	29	17	29	---	---	---	---
OTUD7A	161725	broad.mit.edu	37	15	31776570	31776570	+	Missense_Mutation	SNP	C	C	A	rs542041260		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr15:31776570C>A	ENST00000307050.4	-	11	1800	c.1708G>T	c.(1708-1710)Ggc>Tgc	p.G570C	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G577C	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	570					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G570C(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCTTGCTGCCCTTGCGCGAC	0.692																																						uc001zfq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1708-1710)GGC>TGC		OTU domain containing 7A							37.0	41.0	40.0					15																	31776570		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776570C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1708G>T	15.37:g.31776570C>A	ENSP00000305926:p.Gly570Cys					OTUD7A_uc001zfr.2_Missense_Mutation_p.G577C	p.G570C	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1801	-		all_lung(180;1.6e-09)	570					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1708G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304667	0.81136	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.58506	0.34;0.33	4.74	4.74	0.60224	.	0.101745	0.64402	D	0.000002	T	0.71247	0.3317	L	0.46157	1.445	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75127	-0.3427	10	0.87932	D	0	-32.641	17.7475	0.88425	0.0:1.0:0.0:0.0	.	577;570	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	C	570;577	ENSP00000305926:G570C;ENSP00000372358:G577C	ENSP00000305926:G570C	G	-	1	0	OTUD7A	29563862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.023000	0.76437	2.148000	0.66965	0.650000	0.86243	GGC		PASS	0.692	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		6	18	6	18	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33941357	33941357	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr15:33941357T>A	ENST00000389232.4	+	31	4133	c.4063T>A	c.(4063-4065)Tac>Aac	p.Y1355N	RYR3_ENST00000415757.3_Missense_Mutation_p.Y1355N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1355	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.Y1355N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTATCACTTGTACAGTGAAAA	0.532																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4063-4065)TAC>AAC		ryanodine receptor 3							132.0	133.0	133.0					15																	33941357		1959	4146	6105	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33941357T>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4063T>A	15.37:g.33941357T>A	ENSP00000373884:p.Tyr1355Asn					RYR3_uc010bar.2_Missense_Mutation_p.Y1355N	p.Y1355N	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	31	4133	+		all_lung(180;7.18e-09)	1355			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4063T>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934584	0.73442	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96651	-4.08;-4.08	5.18	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.072486	0.64402	D	0.000020	D	0.97052	0.9037	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.74348	0.934;0.983	D	0.96020	0.9008	10	0.42905	T	0.14	.	11.0301	0.47767	0.0:0.0728:0.0:0.9272	.	1355;1355	Q15413-2;Q15413	.;RYR3_HUMAN	N	1355	ENSP00000373884:Y1355N;ENSP00000399610:Y1355N	ENSP00000354735:Y1355N	Y	+	1	0	RYR3	31728649	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.747000	0.47475	0.994000	0.38892	0.528000	0.53228	TAC		PASS	0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			27	49	27	49	---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49425958	49425958	+	Silent	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr15:49425958T>A	ENST00000388901.5	-	9	1018	c.945A>T	c.(943-945)gtA>gtT	p.V315V	COPS2_ENST00000299259.6_Silent_p.V322V|COPS2_ENST00000542928.1_Silent_p.V251V	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	315	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.V315V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AATCTTACCTTACTAAATTCG	0.279																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(943-945)GTA>GTT		COP9 constitutive photomorphogenic homolog							44.0	46.0	46.0					15																	49425958		2196	4290	6486	SO:0001819	synonymous_variant	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49425958T>A	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.945A>T	15.37:g.49425958T>A						COPS2_uc001zxh.2_Silent_p.V322V|COPS2_uc010ufa.1_Silent_p.V251V	p.V315V	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	9	1024	-		all_lung(180;0.0428)	315			PCI.		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Silent	SNP	ENST00000388901.5	37	c.945A>T	CCDS32235.1																																																																																				PASS	0.279	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		8	17	8	17	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54586235	54586235	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr15:54586235G>T	ENST00000260323.11	+	10	3961	c.3961G>T	c.(3961-3963)Gga>Tga	p.G1321*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.G1319*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.G1321*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					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.G1321*(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)		GACCTTGAGTGGAGAAATGGA	0.353																																						uc002ack.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(3961-3963)GGA>TGA		unc-13 homolog C							230.0	233.0	232.0					15																	54586235		1873	4103	5976	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586235G>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.3961G>T	15.37:g.54586235G>T	ENSP00000260323:p.Gly1321*					UNC13C_uc002acl.2_Nonsense_Mutation_p.G151*	p.G1321*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	9	3961	+			1321					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.3961G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	45	11.430519	0.99560	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	.	.	.	X	1321;1321;1319	.	ENSP00000260323:G1321X	G	+	1	0	UNC13C	52373527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA		PASS	0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		31	60	31	60	---	---	---	---
CCNB2	9133	broad.mit.edu	37	15	59408904	59408904	+	Missense_Mutation	SNP	C	C	T	rs369137460		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr15:59408904C>T	ENST00000288207.2	+	6	804	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CCNB2_ENST00000559622.1_Missense_Mutation_p.R124W	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	205					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.R205W(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						GCCAGTTTCCCGGAAGAAGCT	0.408																																						uc002afz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)CGG>TGG		cyclin B2		C	TRP/ARG	0,4382		0,0,2191	89.0	87.0	88.0		613	5.3	0.9	15		88	1,8581	1.2+/-3.3	0,1,4290	no	missense	CCNB2	NM_004701.3	101	0,1,6481	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	205/399	59408904	1,12963	2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59408904C>T	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.613C>T	15.37:g.59408904C>T	ENSP00000288207:p.Arg205Trp					CCNB2_uc010bge.2_Missense_Mutation_p.R124W	p.R205W	NM_004701	NP_004692	O95067	CCNB2_HUMAN			6	761	+			205					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.613C>T	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717330	0.68844	0.0	1.17E-4	ENSG00000157456	ENST00000288207	T	0.13901	2.55	5.28	5.28	0.74379	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71045	-0.4706	10	0.87932	D	0	.	18.272	0.90071	0.0:1.0:0.0:0.0	.	205;205	Q53HG9;O95067	.;CCNB2_HUMAN	W	205	ENSP00000288207:R205W	ENSP00000288207:R205W	R	+	1	2	CCNB2	57196196	0.993000	0.37304	0.925000	0.36789	0.622000	0.37654	2.782000	0.47758	2.629000	0.89072	0.650000	0.86243	CGG		PASS	0.408	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		9	59	9	59	---	---	---	---
MVP	9961	broad.mit.edu	37	16	29845346	29845346	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:29845346G>A	ENST00000357402.5	+	5	674	c.536G>A	c.(535-537)cGc>cAc	p.R179H	MVP_ENST00000395353.1_Missense_Mutation_p.R179H|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	179					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.R179H(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTCAGGGCCCGCAAGGAGTGC	0.662																																						uc002dui.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(535-537)CGC>CAC		major vault protein							52.0	45.0	47.0					16																	29845346		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29845346G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.536G>A	16.37:g.29845346G>A	ENSP00000349977:p.Arg179His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R179H|MVP_uc010vea.1_5'UTR	p.R179H	NM_005115	NP_005106	Q14764	MVP_HUMAN			5	620	+			179			MVP 4.		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.536G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812814	0.90707	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.33438	1.41;1.41	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69580	-0.5107	10	0.59425	D	0.04	-6.0454	17.8657	0.88794	0.0:0.0:1.0:0.0	.	179	Q14764	MVP_HUMAN	H	179	ENSP00000349977:R179H;ENSP00000378760:R179H	ENSP00000349977:R179H	R	+	2	0	MVP	29752847	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.926000	0.87569	2.826000	0.97356	0.491000	0.48974	CGC		PASS	0.662	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		12	13	12	13	---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409275	30409275	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:30409275G>A	ENST00000320159.2	+	2	1080	c.704G>A	c.(703-705)cGc>cAc	p.R235H	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	235					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.R235H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTTCCGCCCGCATCAAGCAC	0.657																																						uc002dya.1																			2	Substitution - Missense(2)		lung(2)		0						c.(703-705)CGC>CAC		zinc finger protein 48							41.0	48.0	46.0					16																	30409275		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409275G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.704G>A	16.37:g.30409275G>A	ENSP00000324056:p.Arg235His					ZNF48_uc002dxz.1_Missense_Mutation_p.R112H	p.R235H	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	763	+			235			C2H2-type 4.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.704G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213056	0.58452	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.28454	1.61	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36703	N	0.002456	T	0.49795	0.1578	L	0.52905	1.665	0.31463	N	0.669362	D	0.67145	0.996	D	0.70935	0.971	T	0.56426	-0.7981	10	0.87932	D	0	-5.6823	15.2709	0.73699	0.0:0.0:1.0:0.0	.	235	Q96MX3	ZNF48_HUMAN	H	360;235	ENSP00000324056:R235H	ENSP00000324056:R235H	R	+	2	0	ZNF48	30316776	0.995000	0.38212	0.998000	0.56505	0.711000	0.40976	4.221000	0.58574	2.536000	0.85505	0.563000	0.77884	CGC		PASS	0.657	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		3	26	3	26	---	---	---	---
FBXL19	54620	broad.mit.edu	37	16	30939884	30939884	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:30939884A>T	ENST00000380310.2	+	6	942	c.784A>T	c.(784-786)Agg>Tgg	p.R262W	FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000338343.4_Missense_Mutation_p.R242W|FBXL19_ENST00000471231.2_De_novo_Start_OutOfFrame|FBXL19_ENST00000562319.1_Missense_Mutation_p.R242W	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	262	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R262W(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCTGCCCCCCAGGGTTCTGAA	0.677																																						uc002eab.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(784-786)AGG>TGG		F-box and leucine-rich repeat protein 19							19.0	22.0	21.0					16																	30939884		1874	4102	5976	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30939884A>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.784A>T	16.37:g.30939884A>T	ENSP00000369666:p.Arg262Trp					FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Intron	p.R262W	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			6	942	+			262			Pro-rich.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.784A>T	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	a	14.06	2.423774	0.43020	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.23147	1.92;2.23	5.03	3.94	0.45596	.	1.868240	0.02554	N	0.095983	T	0.16128	0.0388	N	0.08118	0	0.28304	N	0.923004	P	0.37985	0.613	B	0.36186	0.219	T	0.14062	-1.0486	10	0.52906	T	0.07	-18.6143	6.6854	0.23142	0.8954:0.0:0.1046:0.0	.	262	Q6PCT2	FXL19_HUMAN	W	242;262	ENSP00000339712:R242W;ENSP00000369666:R262W	ENSP00000339712:R242W	R	+	1	2	FBXL19	30847385	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.239000	0.51360	1.900000	0.55004	0.392000	0.25879	AGG		PASS	0.677	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		4	8	4	8	---	---	---	---
PYDC1	260434	broad.mit.edu	37	16	31228292	31228292	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:31228292G>A	ENST00000302964.3	-	1	388	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	20	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)		p.L20F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AACTTCTTGAGCTCCTCCGGT	0.652																																						uc002ebo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)CTC>TTC		pyrin domain containing 1							67.0	60.0	62.0					16																	31228292		2197	4300	6497	SO:0001583	missense	260434				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding	g.chr16:31228292G>A		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.58C>T	16.37:g.31228292G>A	ENSP00000304336:p.Leu20Phe					TRIM72_uc002ebn.1_Intron	p.L20F	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN			1	107	-			20			DAPIN.		B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.58C>T	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	2.921	-0.223202	0.06061	.	.	ENSG00000169900	ENST00000302964	T	0.54675	0.56	3.96	0.673	0.17941	Pyrin (2);DEATH-like (2);	0.205331	0.23598	U	0.046464	T	0.21227	0.0511	.	.	.	0.09310	N	1	B	0.18610	0.029	B	0.21708	0.036	T	0.28522	-1.0041	9	0.02654	T	1	.	5.1123	0.14815	0.4175:0.0:0.5825:0.0	.	20	Q8WXC3	PYDC1_HUMAN	F	20	ENSP00000304336:L20F	ENSP00000304336:L20F	L	-	1	0	PYDC1	31135793	0.039000	0.19947	0.068000	0.19968	0.266000	0.26442	0.599000	0.24089	0.350000	0.24002	0.561000	0.74099	CTC		PASS	0.652	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		14	19	14	19	---	---	---	---
FTO	79068	broad.mit.edu	37	16	53907755	53907755	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:53907755G>T	ENST00000471389.1	+	5	1175	c.953G>T	c.(952-954)aGt>aTt	p.S318I	FTO_ENST00000394647.3_Missense_Mutation_p.S22I	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	318	Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.S318I(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCTCGGTTTAGTTCCACCCAC	0.403																																						uc002ehr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(952-954)AGT>ATT		fat mass and obesity associated							112.0	105.0	107.0					16																	53907755		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53907755G>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.953G>T	16.37:g.53907755G>T	ENSP00000418823:p.Ser318Ile					FTO_uc010vha.1_Missense_Mutation_p.S22I	p.S318I	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			5	1175	+			318			Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.953G>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248985	0.80024	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	D;D	0.84730	-1.89;-1.89	5.24	5.24	0.73138	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.094958	0.85682	D	0.000000	D	0.91016	0.7174	M	0.72118	2.19	0.54753	D	0.999983	D	0.64830	0.994	D	0.63488	0.915	D	0.91723	0.5390	10	0.87932	D	0	-16.4509	16.3754	0.83383	0.0:0.0:1.0:0.0	.	318	Q9C0B1	FTO_HUMAN	I	318;22	ENSP00000418823:S318I;ENSP00000378142:S22I	ENSP00000378142:S22I	S	+	2	0	FTO	52465256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.384000	0.73177	2.729000	0.93468	0.563000	0.77884	AGT		PASS	0.403	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		17	46	17	46	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57713122	57713122	+	Missense_Mutation	SNP	G	G	T	rs376154437		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:57713122G>T	ENST00000333493.4	+	5	687	c.526G>T	c.(526-528)Gtg>Ttg	p.V176L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.V56L|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	176					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V176M(1)|p.V176L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCAGCGGCGTGTTGAACAA	0.642																																						uc002emh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(526-528)GTG>TTG		G protein-coupled receptor 97 precursor							110.0	102.0	104.0					16																	57713122		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57713122G>T	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.526G>T	16.37:g.57713122G>T	ENSP00000332900:p.Val176Leu					GPR97_uc010vhv.1_Missense_Mutation_p.V56L|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	p.V176L	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			5	629	+			176			Extracellular (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.526G>T	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810783	0.50421	.	.	ENSG00000182885	ENST00000333493;ENST00000450388	T;T	0.33654	1.4;1.51	4.99	4.99	0.66335	.	0.000000	0.49305	D	0.000147	T	0.60843	0.2300	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.64685	-0.6349	10	0.56958	D	0.05	.	14.9828	0.71324	0.0:0.0:1.0:0.0	.	176	Q86Y34	GPR97_HUMAN	L	176;56	ENSP00000332900:V176L;ENSP00000404803:V56L	ENSP00000332900:V176L	V	+	1	0	GPR97	56270623	0.989000	0.36119	0.873000	0.34254	0.068000	0.16541	1.625000	0.37029	2.296000	0.77279	0.491000	0.48974	GTG		PASS	0.642	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		27	60	27	60	---	---	---	---
CCDC113	29070	broad.mit.edu	37	16	58287931	58287931	+	Silent	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:58287931G>T	ENST00000219299.4	+	3	337	c.258G>T	c.(256-258)cgG>cgT	p.R86R	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R86R(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CCAAATCCCGGACAGGTATGG	0.502																																						uc002ene.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)CGG>CGT		coiled-coil domain containing 113 isoform 1							119.0	100.0	106.0					16																	58287931		2198	4300	6498	SO:0001819	synonymous_variant	29070					protein complex		g.chr16:58287931G>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.258G>T	16.37:g.58287931G>T						CCDC113_uc010vid.1_Intron	p.R86R	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			3	337	+			86					B2RAQ7|B4DR20|Q9NZX2	Silent	SNP	ENST00000219299.4	37	c.258G>T	CCDS10795.1																																																																																				PASS	0.502	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		14	43	14	43	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81214831	81214831	+	RNA	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr16:81214831C>A	ENST00000527937.1	-	0	101				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.L681L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGACCCTGAGCAGAATGTCTT	0.537																																						uc002fgh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2041-2043)CTG>CTT		polycystin 1-like 2 isoform a							137.0	131.0	133.0					16																	81214831		2054	4211	6265			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81214831C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81214831C>A						PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_5'UTR|PKD1L2_uc002fgj.2_Silent_p.L681L|PKD1L2_uc002fgl.1_5'UTR	p.L681L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			12	2043	-			681			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37	c.2043G>T		.	.	.	.	.	.	.	.	.	.	C	8.651	0.898357	0.17686	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.9	1.77	0.24775	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	0.3699	2.1353	0.03760	0.1612:0.5101:0.1561:0.1725	.	.	.	.	S	209	.	.	A	-	1	0	PKD1L2	79772332	0.146000	0.22672	0.400000	0.26346	0.876000	0.50452	0.149000	0.16243	0.191000	0.20236	0.563000	0.77884	GCT		PASS	0.537	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			13	40	13	40	---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4575276	4575276	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:4575276C>A	ENST00000574876.1	-	16	3027	c.3010G>T	c.(3010-3012)Ggg>Tgg	p.G1004W	PELP1_ENST00000301396.4_Missense_Mutation_p.G1148W|PELP1_ENST00000269230.7_Missense_Mutation_p.G914W|PELP1_ENST00000572293.1_Missense_Mutation_p.G1054W|PELP1_ENST00000436683.2_Intron			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1004	Glu-rich.|Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.G1054W(1)|p.G1148W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AAAAGCAGCCCGGGTTCAGGT	0.662																																						uc002fyi.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(3010-3012)GGG>TGG		proline, glutamic acid and leucine rich protein							18.0	18.0	18.0					17																	4575276		1885	4095	5980	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4575276C>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.3010G>T	17.37:g.4575276C>A	ENSP00000461625:p.Gly1004Trp					PELP1_uc010vsf.1_Intron	p.G1004W	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			16	3236	-			1004			Glu-rich.|Pro-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.3010G>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	0.802	-0.755091	0.03019	.	.	ENSG00000141456	ENST00000301396;ENST00000269230	T;T	0.56941	0.44;0.43	4.98	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.58101	1.795	0.80722	D	1	D	0.59767	0.986	P	0.61070	0.883	T	0.66578	-0.5888	10	0.72032	D	0.01	-16.6869	11.6368	0.51209	0.0:0.9119:0.0:0.0881	.	1004	Q8IZL8	PELP1_HUMAN	W	1148;914	ENSP00000301396:G1148W;ENSP00000269230:G914W	ENSP00000269230:G914W	G	-	1	0	AC091153.1	4522025	0.975000	0.34042	0.299000	0.25016	0.117000	0.20001	1.698000	0.37794	1.225000	0.43566	0.655000	0.94253	GGG		PASS	0.662	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		7	2	7	2	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10415213	10415213	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:10415213C>A	ENST00000226207.5	-	14	1453	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	453	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K453N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTGGGCTGCTTGGTGTCCA	0.478																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1357-1359)AAG>AAT		myosin, heavy chain 1, skeletal muscle, adult							224.0	210.0	215.0					17																	10415213		2203	4297	6500	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415213C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1359G>T	17.37:g.10415213C>A	ENSP00000226207:p.Lys453Asn					uc002gml.1_Intron	p.K453N	NM_005963	NP_005954	P12882	MYH1_HUMAN			14	1453	-			453			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1359G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.740976	0.69304	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.71934	-0.61	5.73	4.76	0.60689	Myosin head, motor domain (2);	0.000000	0.45126	U	0.000393	T	0.77032	0.4071	M	0.76574	2.34	0.50813	D	0.999893	P	0.39940	0.696	P	0.46659	0.523	T	0.80500	-0.1355	10	0.87932	D	0	.	14.7926	0.69854	0.0:0.9309:0.0:0.0691	.	453	P12882	MYH1_HUMAN	N	453	ENSP00000226207:K453N	ENSP00000226207:K453N	K	-	3	2	MYH1	10355938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.389000	0.34453	1.551000	0.49450	0.655000	0.94253	AAG		PASS	0.478	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		131	44	131	44	---	---	---	---
FLCN	201163	broad.mit.edu	37	17	17131272	17131272	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:17131272C>A	ENST00000285071.4	-	4	634	c.180G>T	c.(178-180)gcG>gcT	p.A60A	FLCN_ENST00000389169.5_Silent_p.A60A|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	60					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)	p.A60A(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGGGGCTGTGCGCACGCATCC	0.607									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3																			2	Substitution - coding silent(2)		lung(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(178-180)GCG>GCT		folliculin isoform 1							99.0	82.0	88.0					17																	17131272		2203	4300	6503	SO:0001819	synonymous_variant	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17131272C>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.180G>T	17.37:g.17131272C>A						PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.A60A|FLCN_uc002grc.2_Silent_p.A60A	p.A60A	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			4	684	-			60					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.180G>T	CCDS32579.1																																																																																				PASS	0.607	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		27	14	27	14	---	---	---	---
COPS3	8533	broad.mit.edu	37	17	17179477	17179477	+	Splice_Site	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:17179477C>T	ENST00000268717.5	-	2	163	c.57G>A	c.(55-57)ggG>ggA	p.G19G	COPS3_ENST00000539941.2_5'UTR|COPS3_ENST00000439936.2_5'UTR	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	19					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.G19G(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GTGTCATTTGCCCTGGAAAAC	0.463																																						uc002grd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(55-57)GGG>GGA		COP9 constitutive photomorphogenic homolog							131.0	98.0	109.0					17																	17179477		2203	4300	6503	SO:0001630	splice_region_variant	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17179477C>T	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.56-1G>A	17.37:g.17179477C>T						COPS3_uc010vwv.1_5'UTR|COPS3_uc010vww.1_5'UTR	p.G19G	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN			2	148	-			19					B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000268717.5	37	c.57G>A	CCDS11183.1																																																																																				PASS	0.463	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		Silent	3	62	3	62	---	---	---	---
PRR11	55771	broad.mit.edu	37	17	57272786	57272786	+	Missense_Mutation	SNP	G	G	T	rs563868	byFrequency	TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:57272786G>T	ENST00000262293.4	+	7	1151	c.839G>T	c.(838-840)cGa>cTa	p.R280L	CTD-2510F5.6_ENST00000577660.1_5'Flank	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	280						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R280L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTATCGACTCGAGTTACAAAC	0.388																																						uc002ixf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(838-840)CGA>CTA		proline rich 11							135.0	107.0	117.0					17																	57272786		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57272786G>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.839G>T	17.37:g.57272786G>T	ENSP00000262293:p.Arg280Leu					PRR11_uc002ixg.1_RNA	p.R280L	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN			7	918	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		280					Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.839G>T	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762882	0.69763	.	.	ENSG00000068489	ENST00000262293	.	.	.	4.82	2.41	0.29592	.	0.308438	0.24072	N	0.041807	T	0.41465	0.1160	L	0.47716	1.5	0.41435	D	0.987882	P	0.42620	0.785	B	0.40982	0.345	T	0.37776	-0.9691	9	0.62326	D	0.03	-0.2686	4.8144	0.13360	0.3495:0.0:0.6505:0.0	.	280	Q96HE9	PRR11_HUMAN	L	280	.	ENSP00000262293:R280L	R	+	2	0	PRR11	54627568	0.717000	0.27966	1.000000	0.80357	0.992000	0.81027	0.521000	0.22893	1.154000	0.42482	0.655000	0.94253	CGA		PASS	0.388	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		32	19	32	19	---	---	---	---
HEATR6	63897	broad.mit.edu	37	17	58126990	58126990	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:58126990G>T	ENST00000184956.6	-	16	2514	c.2498C>A	c.(2497-2499)gCa>gAa	p.A833E	HEATR6_ENST00000585976.1_Missense_Mutation_p.A721E	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	833							poly(A) RNA binding (GO:0044822)	p.A833E(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCGTGAAGTTGCAGCTTTCAC	0.498																																						uc002iyk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2497-2499)GCA>GAA		HEAT repeat containing 6							91.0	82.0	85.0					17																	58126990		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58126990G>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2498C>A	17.37:g.58126990G>T	ENSP00000184956:p.Ala833Glu					HEATR6_uc010ddk.1_Missense_Mutation_p.A372E|HEATR6_uc010wos.1_Missense_Mutation_p.A553E	p.A833E	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		16	2515	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		833					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.2498C>A	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508181	0.85282	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67345	-0.26	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.050787	0.85682	D	0.000000	D	0.83344	0.5234	M	0.82517	2.595	0.44395	D	0.997301	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.98	D	0.84763	0.0763	10	0.54805	T	0.06	-8.2889	18.3023	0.90168	0.0:0.0:1.0:0.0	.	568;833	E7ESB9;Q6AI08	.;HEAT6_HUMAN	E	833;568	ENSP00000184956:A833E	ENSP00000184956:A833E	A	-	2	0	HEATR6	55481772	1.000000	0.71417	0.816000	0.32577	0.557000	0.35523	9.266000	0.95659	2.610000	0.88304	0.650000	0.86243	GCA		PASS	0.498	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		3	47	3	47	---	---	---	---
APOH	350	broad.mit.edu	37	17	64210612	64210612	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:64210612T>A	ENST00000205948.6	-	7	978	c.941A>T	c.(940-942)cAg>cTg	p.Q314L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	314	Sushi-like.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.Q314L(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ATCTATACACTGAGCATCCTC	0.398																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)CAG>CTG		apolipoprotein H precursor							194.0	159.0	171.0					17																	64210612		2203	4300	6503	SO:0001583	missense	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64210612T>A		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.941A>T	17.37:g.64210612T>A	ENSP00000205948:p.Gln314Leu						p.Q314L	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		7	1000	-			314			Sushi-like.		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	c.941A>T	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	t	11.41	1.630251	0.28978	.	.	ENSG00000091583	ENST00000205948	D	0.83163	-1.69	5.5	3.2	0.36748	Complement control module (2);Beta-2-glycoprotein-1 fifth domain (2);	0.777423	0.12667	N	0.449088	T	0.76630	0.4014	M	0.66939	2.045	0.32556	N	0.531734	P	0.36125	0.538	B	0.30316	0.114	T	0.73658	-0.3913	10	0.37606	T	0.19	.	5.7963	0.18389	0.1471:0.0868:0.0:0.766	.	314	P02749	APOH_HUMAN	L	314	ENSP00000205948:Q314L	ENSP00000205948:Q314L	Q	-	2	0	APOH	61641074	0.607000	0.26958	0.718000	0.30602	0.324000	0.28378	1.080000	0.30779	0.363000	0.24346	0.529000	0.55759	CAG		PASS	0.398	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		54	24	54	24	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	335123	335123	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr18:335123C>T	ENST00000400256.3	-	6	1642	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	479	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.G479S(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCCGCAGGGCCAGGTGGTCCA	0.667																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1435-1437)GGC>AGC		collectin sub-family member 12							32.0	34.0	34.0					18																	335123		2196	4289	6485	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335123C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1435G>A	18.37:g.335123C>T	ENSP00000383115:p.Gly479Ser						p.G479S	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1650	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	479			Collagen-like 2.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1435G>A	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160572	0.57368	.	.	ENSG00000158270	ENST00000400256	D	0.99607	-6.27	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96837	0.9615	10	0.87932	D	0	-19.2798	19.7698	0.96359	0.0:1.0:0.0:0.0	.	479	Q5KU26	COL12_HUMAN	S	479	ENSP00000383115:G479S	ENSP00000383115:G479S	G	-	1	0	COLEC12	325123	1.000000	0.71417	0.960000	0.40013	0.036000	0.12997	7.764000	0.85297	2.659000	0.90383	0.655000	0.94253	GGC		PASS	0.667	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			33	45	33	45	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7049209	7049209	+	Silent	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr18:7049209T>A	ENST00000389658.3	-	5	729	c.636A>T	c.(634-636)tcA>tcT	p.S212S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	212	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S212S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACAACTTGGGTGAAAGATCGT	0.413																																						uc002knm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(634-636)TCA>TCT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						131.0	109.0	117.0					18																	7049209		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7049209T>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.636A>T	18.37:g.7049209T>A						LAMA1_uc010wzj.1_5'UTR	p.S212S	NM_005559	NP_005550	P25391	LAMA1_HUMAN			5	730	-		Colorectal(10;0.172)	212			Laminin N-terminal.			Silent	SNP	ENST00000389658.3	37	c.636A>T	CCDS32787.1																																																																																				PASS	0.413	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		23	45	23	45	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9570624	9570624	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr18:9570624T>C	ENST00000400556.3	-	11	1177	c.1104A>G	c.(1102-1104)tcA>tcG	p.S368S	PPP4R1_ENST00000400555.3_Silent_p.S351S	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	368					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.S368S(1)		large_intestine(1)|skin(2)	3						CACTGAGATCTGAAGGAGTAT	0.438																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1102-1104)TCA>TCG		protein phosphatase 4, regulatory subunit 1							88.0	85.0	86.0					18																	9570624		1896	4108	6004	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570624T>C	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1104A>G	18.37:g.9570624T>C						PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.S214S|PPP4R1_uc002kod.1_Silent_p.S351S|PPP4R1_uc010wzp.1_RNA	p.S368S	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			11	1222	-			368					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.1104A>G	CCDS42412.1																																																																																				PASS	0.438	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		36	45	36	45	---	---	---	---
CABYR	26256	broad.mit.edu	37	18	21736470	21736470	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr18:21736470A>T	ENST00000399481.2	+	2	863	c.711A>T	c.(709-711)gaA>gaT	p.E237D	CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	335					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)	p.E335D(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AGTCAAAAGAAAATGAGCAGT	0.388																																						uc002kux.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GAA>GAT		calcium-binding tyrosine							58.0	59.0	59.0					18																	21736470		2203	4300	6503	SO:0001583	missense	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21736470A>T	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.711A>T	18.37:g.21736470A>T	ENSP00000382404:p.Glu237Asp					CABYR_uc010xbb.1_Missense_Mutation_p.E237D|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.E317D|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	p.E335D	NM_012189	NP_036321	O75952	CABYR_HUMAN			4	1157	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		335					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000399481.2	37	c.1005A>T		.	.	.	.	.	.	.	.	.	.	A	12.95	2.090792	0.36855	.	.	ENSG00000154040	ENST00000399481	T	0.23950	1.88	5.31	0.144	0.14824	.	0.326514	0.26258	N	0.025413	T	0.09555	0.0235	N	0.08118	0	0.09310	N	0.999997	B;B	0.19073	0.033;0.02	B;B	0.22601	0.04;0.018	T	0.27020	-1.0086	9	.	.	.	-2.0488	4.2852	0.10851	0.4745:0.344:0.1815:0.0	.	317;335	O75952-2;O75952	.;CABYR_HUMAN	D	237	ENSP00000382404:E237D	.	E	+	3	2	CABYR	19990468	0.000000	0.05858	0.931000	0.37212	0.981000	0.71138	0.534000	0.23098	0.457000	0.26962	0.533000	0.62120	GAA		PASS	0.388	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		21	42	21	42	---	---	---	---
ATP8B3	148229	broad.mit.edu	37	19	1800301	1800301	+	Missense_Mutation	SNP	G	G	C	rs574629653	byFrequency	TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:1800301G>C	ENST00000310127.6	-	13	1538	c.1300C>G	c.(1300-1302)Ctc>Gtc	p.L434V	ATP8B3_ENST00000539485.1_Missense_Mutation_p.L434V|ATP8B3_ENST00000526092.2_Missense_Mutation_p.L381V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.L387V	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	434					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L434V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGATGAGGAAGCTCCAG	0.592																																						uc002ltw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1300-1302)CTC>GTC		ATPase, class I, type 8B, member 3							55.0	61.0	59.0					19																	1800301		2196	4294	6490	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1800301G>C	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1300C>G	19.37:g.1800301G>C	ENSP00000311336:p.Leu434Val					ATP8B3_uc002ltv.2_Missense_Mutation_p.L387V|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.L182V|ATP8B3_uc002ltz.1_Missense_Mutation_p.L381V	p.L434V	NM_138813	NP_620168	O60423	AT8B3_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)	13	1534	-		Hepatocellular(1079;0.137)	434			Helical; (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1300C>G	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	10.23	1.291771	0.23564	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	3.46	-1.96	0.07525	ATPase, P-type, ATPase-associated domain (1);	0.428540	0.25296	N	0.031683	T	0.78227	0.4250	L	0.27944	0.81	0.26541	N	0.974082	B;B;B	0.29552	0.241;0.248;0.164	B;B;B	0.26969	0.075;0.064;0.038	T	0.65841	-0.6070	10	0.28530	T	0.3	.	4.9336	0.13930	0.0:0.3113:0.3344:0.3543	.	381;434;387	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	V	434;434;387;381;381	ENSP00000311336:L434V;ENSP00000443574:L434V;ENSP00000437115:L387V;ENSP00000445204:L381V	ENSP00000311336:L434V	L	-	1	0	ATP8B3	1751301	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	2.867000	0.48428	0.071000	0.16664	0.549000	0.68633	CTC		PASS	0.592	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		9	32	9	32	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7810680	7810680	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:7810680C>G	ENST00000315599.7	-	4	494	c.472G>C	c.(472-474)Ggt>Cgt	p.G158R	CD209_ENST00000602261.1_Splice_Site_p.E158Q|CD209_ENST00000593660.1_Missense_Mutation_p.G134R|CD209_ENST00000593821.1_Splice_Site_p.E114Q|CD209_ENST00000315591.8_Missense_Mutation_p.G134R|CD209_ENST00000601951.1_Missense_Mutation_p.G134R|CD209_ENST00000354397.6_Missense_Mutation_p.G158R|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.G134R|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.G114R|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	158	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.G158R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGAAGCTCACCCACTGCAGCC	0.557																																						uc002mht.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(472-474)GGT>CGT		CD209 molecule isoform 1							118.0	115.0	116.0					19																	7810680		2200	4297	6497	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810680C>G	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.472G>C	19.37:g.7810680C>G	ENSP00000315477:p.Gly158Arg					CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.G134R|CD209_uc002mhr.2_Missense_Mutation_p.G134R|CD209_uc002mhs.2_Missense_Mutation_p.G134R|CD209_uc002mhu.2_Missense_Mutation_p.E158Q|CD209_uc010dvq.2_Missense_Mutation_p.G158R|CD209_uc002mhq.2_Missense_Mutation_p.G158R|CD209_uc002mhv.2_Missense_Mutation_p.G134R|CD209_uc002mhx.2_Missense_Mutation_p.G114R|CD209_uc002mhw.2_Missense_Mutation_p.E114Q|CD209_uc010dvr.2_Intron	p.G158R	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	539	-			158			Extracellular (Probable).|7 X approximate tandem repeats.|3.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.472G>C	CCDS12186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.22|10.22	1.290897|1.290897	0.23564|0.23564	.|.	.|.	ENSG00000090659|ENSG00000090659	ENST00000394173|ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	.|T;T;T;T	.|0.21191	.|2.02;2.02;2.02;2.02	1.11|1.11	-1.34|-1.34	0.09143|0.09143	.|.	.|.	.|.	.|.	.|.	T|T	0.34629|0.34629	0.0904|0.0904	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	B;B|P;D;D;P;D;D;D;P	0.31625|0.76494	0.332;0.007|0.946;0.983;0.999;0.734;0.975;0.987;0.998;0.946	B;B|P;P;D;P;P;P;D;P	0.25140|0.83275	0.058;0.012|0.675;0.905;0.996;0.549;0.779;0.812;0.948;0.754	T|T	0.15752|0.15752	-1.0426|-1.0426	8|9	0.39692|0.46703	T|T	0.17|0.11	.|.	3.9998|3.9998	0.09574|0.09574	0.0:0.5213:0.0:0.4787|0.0:0.5213:0.0:0.4787	.|.	114;158|158;134;114;134;158;134;134;158	Q9NNX6-8;G5E9C4|Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.|.;.;.;.;CD209_HUMAN;.;.;.	Q|R	158|158;158;134;114;142	.|ENSP00000315477:G158R;ENSP00000346373:G158R;ENSP00000315407:G134R;ENSP00000204801:G114R	ENSP00000377728:E158Q|ENSP00000204801:G114R	E|G	-|-	1|1	0|0	CD209|CD209	7716680|7716680	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.040000|0.040000	0.13550|0.13550	-0.202000|-0.202000	0.09451|0.09451	-0.342000|-0.342000	0.08363|0.08363	-0.397000|-0.397000	0.06425|0.06425	GAA|GGT		PASS	0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		101	116	101	116	---	---	---	---
CERS4	79603	broad.mit.edu	37	19	8319436	8319436	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:8319436G>T	ENST00000251363.5	+	4	527	c.227G>T	c.(226-228)aGg>aTg	p.R76M	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.R76M|CERS4_ENST00000559336.1_Missense_Mutation_p.R76M|CERS4_ENST00000558331.1_Missense_Mutation_p.R25M	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	76					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.R76M(1)									CAGACCAGGAGGCAAGTGAAG	0.622																																						uc002mjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)AGG>ATG		LAG1 homolog, ceramide synthase 4							99.0	67.0	78.0					19																	8319436		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8319436G>T		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.227G>T	19.37:g.8319436G>T	ENSP00000251363:p.Arg76Met					LASS4_uc002mjh.2_Missense_Mutation_p.R25M|LASS4_uc002mji.2_Translation_Start_Site|LASS4_uc010dvz.2_Missense_Mutation_p.R76M	p.R76M	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			4	547	+			76			Homeobox.		D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.227G>T	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	G	7.233	0.599713	0.13939	.	.	ENSG00000090661	ENST00000251363	T	0.21031	2.03	4.33	-3.31	0.04988	Homeobox (1);Homeodomain-like (1);	0.766749	0.12400	N	0.472174	T	0.16342	0.0393	L	0.49126	1.545	0.09310	N	1	B;B	0.26672	0.156;0.129	B;B	0.33960	0.173;0.113	T	0.34329	-0.9833	10	0.33940	T	0.23	-13.8234	4.0027	0.09587	0.4706:0.0:0.3531:0.1762	.	76;76	Q53HF9;Q9HA82	.;CERS4_HUMAN	M	76	ENSP00000251363:R76M	ENSP00000251363:R76M	R	+	2	0	CERS4	8225436	0.000000	0.05858	0.326000	0.25389	0.265000	0.26407	-0.752000	0.04797	-0.258000	0.09446	0.561000	0.74099	AGG		PASS	0.622	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		9	20	9	20	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578620	9578620	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:9578620G>A	ENST00000301480.4	-	10	1216	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	335					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.H335Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTACAGCATGGCTTGTGGAG	0.378																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1003-1005)CAT>TAT		zinc finger protein 560							182.0	157.0	165.0					19																	9578620		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578620G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1003C>T	19.37:g.9578620G>A	ENSP00000301480:p.His335Tyr					ZNF560_uc010dwr.1_Missense_Mutation_p.H229Y	p.H335Y	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1213	-			335					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1003C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190906	0.21954	.	.	ENSG00000198028	ENST00000301480	T	0.07444	3.19	1.87	-0.568	0.11760	.	.	.	.	.	T	0.04998	0.0134	N	0.12422	0.21	0.09310	N	1	B	0.31752	0.338	B	0.36030	0.216	T	0.41197	-0.9522	9	0.87932	D	0	.	4.4759	0.11739	0.1582:0.2325:0.6093:0.0	.	335	Q96MR9	ZN560_HUMAN	Y	335	ENSP00000301480:H335Y	ENSP00000301480:H335Y	H	-	1	0	ZNF560	9439620	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.068000	0.14531	-0.064000	0.13043	-0.339000	0.08088	CAT		PASS	0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		66	23	66	23	---	---	---	---
MED26	9441	broad.mit.edu	37	19	16687644	16687644	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:16687644G>A	ENST00000263390.3	-	3	1259	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.P341S|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	333					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.P333S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TCCGCACTGGGCAGCAGCTCG	0.721																																						uc002nen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(997-999)CCC>TCC		mediator complex subunit 26							8.0	10.0	9.0					19																	16687644		2120	4138	6258	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687644G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.997C>T	19.37:g.16687644G>A	ENSP00000263390:p.Pro333Ser					MED26_uc002nee.2_RNA	p.P333S	NM_004831	NP_004822	O95402	MED26_HUMAN			3	1258	-			333					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.997C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	0.935	-0.711472	0.03230	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.71	2.58	0.30949	.	0.699661	0.13573	N	0.377893	T	0.26085	0.0636	L	0.31294	0.92	0.19945	N	0.999949	B	0.11235	0.004	B	0.09377	0.004	T	0.26087	-1.0113	9	0.06099	T	0.92	-8.4773	9.9663	0.41727	0.1657:0.0:0.8343:0.0	.	333	O95402	MED26_HUMAN	S	333	.	ENSP00000263390:P333S	P	-	1	0	MED26	16548644	0.007000	0.16637	0.720000	0.30636	0.056000	0.15407	0.274000	0.18680	0.432000	0.26286	-0.455000	0.05494	CCC		PASS	0.721	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		15	1	15	1	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19335983	19335983	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:19335983G>T	ENST00000252575.6	+	6	1075	c.976G>T	c.(976-978)Ggg>Tgg	p.G326W	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	326	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G340W(1)|p.G326W(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	ccggcgctgcgggggcccagc	0.746																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(976-978)GGG>TGG		chondroitin sulfate proteoglycan 3 precursor							3.0	4.0	4.0					19																	19335983		1891	3838	5729	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19335983G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.976G>T	19.37:g.19335983G>T	ENSP00000252575:p.Gly326Trp					NCAN_uc010ecc.1_5'Flank	p.G326W	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		6	1075	+			326			Link 2.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.976G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513351	0.96402	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.13307	2.6	5.17	5.17	0.71159	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.34507	N	0.003902	T	0.49012	0.1532	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63005	-0.6733	10	0.87932	D	0	-26.8589	16.1477	0.81583	0.0:0.0:1.0:0.0	.	326	O14594	NCAN_HUMAN	W	340;326	ENSP00000252575:G326W	ENSP00000252575:G326W	G	+	1	0	NCAN	19196983	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.568000	0.98166	2.412000	0.81896	0.491000	0.48974	GGG		PASS	0.746	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		3	2	3	2	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363549	22363549	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:22363549G>A	ENST00000397121.2	-	3	1287	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	324					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.L324F(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTCAGTAAGGCTTGAGGAC	0.418																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)CTT>TTT		zinc finger protein 676							61.0	64.0	63.0					19																	22363549		2122	4250	6372	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363549G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.970C>T	19.37:g.22363549G>A	ENSP00000380310:p.Leu324Phe						p.L324F	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1288	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	324			C2H2-type 6.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.970C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	9.125	1.009864	0.19277	.	.	ENSG00000196109	ENST00000397121	T	0.52057	0.68	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60051	0.2239	L	0.58810	1.83	0.23563	N	0.997406	D	0.76494	0.999	D	0.81914	0.995	T	0.48198	-0.9056	9	0.62326	D	0.03	.	8.4137	0.32659	0.0:0.0:1.0:0.0	.	324	Q8N7Q3	ZN676_HUMAN	F	324	ENSP00000380310:L324F	ENSP00000380310:L324F	L	-	1	0	ZNF676	22155389	0.044000	0.20184	0.062000	0.19696	0.062000	0.15995	0.377000	0.20552	0.192000	0.20272	0.195000	0.17529	CTT		PASS	0.418	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		11	75	11	75	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23542727	23542727	+	Silent	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:23542727T>C	ENST00000300619.7	-	4	3259	c.3054A>G	c.(3052-3054)ggA>ggG	p.G1018G	ZNF91_ENST00000397082.2_Silent_p.G986G|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1018					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G1018G(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ATGGTTTCTCTCCAGTGTGCA	0.383																																						uc002nre.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3052-3054)GGA>GGG		zinc finger protein 91							92.0	94.0	93.0					19																	23542727		2192	4295	6487	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542727T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3054A>G	19.37:g.23542727T>C						ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.G986G	p.G1018G	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	3167	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1018					A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.3054A>G	CCDS42541.1																																																																																				PASS	0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		29	21	29	21	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34699941	34699941	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:34699941A>G	ENST00000433627.5	+	4	598	c.523A>G	c.(523-525)Aca>Gca	p.T175A	LSM14A_ENST00000540746.2_Intron|LSM14A_ENST00000544216.3_Missense_Mutation_p.T175A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	175					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.T175A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ATCTCTAAAAACACAGTTATC	0.373																																						uc002nvb.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)ACA>GCA		LSM14 homolog A isoform a							93.0	84.0	87.0					19																	34699941		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34699941A>G	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.523A>G	19.37:g.34699941A>G	ENSP00000413964:p.Thr175Ala					LSM14A_uc002nva.3_Missense_Mutation_p.T175A|LSM14A_uc010xru.1_Intron|LSM14A_uc002nvc.3_5'UTR	p.T175A	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			4	719	+	Esophageal squamous(110;0.162)		175					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.523A>G	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	A	3.982	-0.006191	0.07773	.	.	ENSG00000257103	ENST00000544216;ENST00000433627	T;T	0.30448	1.54;1.53	5.3	1.79	0.24919	.	0.483705	0.23973	N	0.042752	T	0.19366	0.0465	L	0.50919	1.6	0.39427	D	0.967017	B;B	0.32918	0.39;0.038	B;B	0.27380	0.079;0.022	T	0.12630	-1.0540	10	0.07325	T	0.83	-5.0639	7.2025	0.25889	0.6164:0.1367:0.0:0.247	.	175;175	Q8ND56;Q8ND56-2	LS14A_HUMAN;.	A	175	ENSP00000446271:T175A;ENSP00000413964:T175A	ENSP00000314768:T175A	T	+	1	0	LSM14A	39391781	1.000000	0.71417	0.996000	0.52242	0.373000	0.29922	0.951000	0.29135	0.028000	0.15324	0.455000	0.32223	ACA		PASS	0.373	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		18	68	18	68	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36259086	36259086	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:36259086C>T	ENST00000544099.1	+	10	1313	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	C19orf55_ENST00000396908.4_Missense_Mutation_p.P416S|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		0								p.P416S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGACGATCCCGTGCTGCA	0.632																																						uc002obq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1249-1251)TCC>TTC		hypothetical protein LOC148137							32.0	38.0	36.0					19																	36259086		1969	4167	6136	SO:0001583	missense	148137							g.chr19:36259086C>T																												ENST00000544099.1:c.1250C>T	19.37:g.36259086C>T	ENSP00000467267:p.Ser417Phe						p.S417F	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1323	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		Error:Variant_position_missing_in_Q2NL68_after_alignment					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.1250C>T		.	.	.	.	.	.	.	.	.	.	C	17.73	3.460370	0.63401	.	.	ENSG00000167595	ENST00000396908	T	0.39997	1.05	5.03	1.41	0.22369	.	.	.	.	.	T	0.22898	0.0553	N	0.08118	0	0.22866	N	0.99863	.	.	.	.	.	.	T	0.20840	-1.0263	7	0.87932	D	0	-10.0754	4.8454	0.13510	0.0:0.6297:0.1763:0.194	.	.	.	.	S	416	ENSP00000380116:P416S	ENSP00000380116:P416S	P	+	1	0	C19orf55	40950926	0.738000	0.28186	0.973000	0.42090	0.672000	0.39443	0.899000	0.28417	0.765000	0.33221	0.563000	0.77884	CCC		PASS	0.632	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			4	23	4	23	---	---	---	---
ZNF382	84911	broad.mit.edu	37	19	37117851	37117851	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:37117851C>A	ENST00000292928.2	+	5	1165	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	ZNF382_ENST00000423582.1_Missense_Mutation_p.P302H|ZNF382_ENST00000435416.1_Missense_Mutation_p.P350H|ZNF382_ENST00000439428.1_Missense_Mutation_p.P350H|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	351	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P351H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGGGGAAACCCTTTATTTGT	0.468																																						uc002oek.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)CCC>CAC		zinc finger protein 382							71.0	73.0	72.0					19																	37117851		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117851C>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1052C>A	19.37:g.37117851C>A	ENSP00000292928:p.Pro351His					ZNF382_uc010efa.2_Missense_Mutation_p.P302H|ZNF382_uc010efb.2_Missense_Mutation_p.P350H|ZNF382_uc002oel.2_Missense_Mutation_p.P350H	p.P351H	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1165	+	Esophageal squamous(110;0.198)		351			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1052C>A	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961270	0.74016	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000825	T	0.58090	0.2098	M	0.90145	3.09	0.49798	D	0.999828	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	T	0.67875	-0.5557	10	0.87932	D	0	.	14.9894	0.71374	0.0:1.0:0.0:0.0	.	350;350;351	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	H	302;351;350;350	ENSP00000389722:P302H;ENSP00000292928:P351H;ENSP00000407593:P350H;ENSP00000410113:P350H	ENSP00000292928:P351H	P	+	2	0	ZNF382	41809691	0.996000	0.38824	0.999000	0.59377	0.993000	0.82548	3.690000	0.54713	2.481000	0.83766	0.591000	0.81541	CCC		PASS	0.468	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		19	97	19	97	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38959614	38959614	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:38959614C>A	ENST00000359596.3	+	26	3390	c.3390C>A	c.(3388-3390)cgC>cgA	p.R1130R	RYR1_ENST00000360985.3_Silent_p.R1130R|RYR1_ENST00000355481.4_Silent_p.R1130R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1130	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1130R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGGCCAGCGCTGGCACTTGG	0.552																																						uc002oit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(3388-3390)CGC>CGA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						50.0	49.0	49.0					19																	38959614		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959614C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3390C>A	19.37:g.38959614C>A						RYR1_uc002oiu.2_Silent_p.R1130R	p.R1130R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3520	+	all_cancers(60;7.91e-06)		1130			6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3390C>A	CCDS33011.1																																																																																				PASS	0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			37	23	37	23	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39207810	39207810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:39207810G>T	ENST00000252699.2	+	10	1073	c.997G>T	c.(997-999)Gag>Tag	p.E333*	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Nonsense_Mutation_p.E114*	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	333					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E333*(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAGAAGCTGGAGGACTTCCG	0.617																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(997-999)GAG>TAG		actinin, alpha 4							98.0	76.0	83.0					19																	39207810		2203	4300	6503	SO:0001587	stop_gained	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39207810G>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.997G>T	19.37:g.39207810G>T	ENSP00000252699:p.Glu333*					ACTN4_uc010egc.1_Nonsense_Mutation_p.E333*	p.E333*	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		10	1056	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		333			Spectrin 1.		A4K467|D6PXK4|O76048	Nonsense_Mutation	SNP	ENST00000252699.2	37	c.997G>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	36	5.736665	0.96865	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	.	.	.	4.43	4.43	0.53597	.	0.070055	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.3273	0.82990	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;114	.	ENSP00000252699:E333X	E	+	1	0	ACTN4	43899650	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.601000	0.98297	2.456000	0.83038	0.561000	0.74099	GAG		PASS	0.617	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			11	15	11	15	---	---	---	---
ARHGEF1	9138	broad.mit.edu	37	19	42399546	42399546	+	Silent	SNP	A	A	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:42399546A>T	ENST00000354532.3	+	12	1150	c.1002A>T	c.(1000-1002)ccA>ccT	p.P334P	ARHGEF1_ENST00000337665.4_Silent_p.P349P|ARHGEF1_ENST00000347545.4_Silent_p.P301P|ARHGEF1_ENST00000378152.4_Silent_p.P316P|ARHGEF1_ENST00000599846.1_Silent_p.P334P	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	334					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P349P(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGACAGCCCAGACCGGGAAC	0.677																																						uc002orx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1000-1002)CCA>CCT		Rho guanine nucleotide exchange factor 1 isoform							49.0	55.0	53.0					19																	42399546		2203	4300	6503	SO:0001819	synonymous_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42399546A>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1002A>T	19.37:g.42399546A>T						ARHGEF1_uc002orw.1_Silent_p.P334P|ARHGEF1_uc002ory.2_Silent_p.P301P|ARHGEF1_uc002orz.2_Silent_p.P172P|ARHGEF1_uc002osa.2_Silent_p.P349P|ARHGEF1_uc002osb.2_Silent_p.P316P|ARHGEF1_uc002osc.2_Silent_p.P28P|ARHGEF1_uc002osd.2_5'Flank	p.P334P	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	12	1111	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	334					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.1002A>T	CCDS12591.1																																																																																				PASS	0.677	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		18	81	18	81	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45322052	45322052	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:45322052G>T	ENST00000270233.6	+	10	1271	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	BCAM_ENST00000589651.1_Missense_Mutation_p.D417Y	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	417	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.D417Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TATCACCTTCGATTCCAATGG	0.632																																						uc002ozu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1249-1251)GAT>TAT		basal cell adhesion molecule isoform 1							129.0	112.0	118.0					19																	45322052		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322052G>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1249G>T	19.37:g.45322052G>T	ENSP00000270233:p.Asp417Tyr					BCAM_uc002ozt.1_Missense_Mutation_p.D417Y	p.D417Y	NM_005581	NP_005572	P50895	BCAM_HUMAN			10	1293	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	417			Extracellular (Potential).|Ig-like C2-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1249G>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.282410	0.59867	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.11385	2.78;2.78	4.6	3.54	0.40534	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29093	0.0723	M	0.70787	2.145	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02352	-1.1172	9	0.72032	D	0.01	-13.4455	9.2411	0.37498	0.1084:0.0:0.8916:0.0	.	417	P50895	BCAM_HUMAN	Y	417	ENSP00000270233:D417Y;ENSP00000375817:D417Y	ENSP00000270233:D417Y	D	+	1	0	BCAM	50013892	0.360000	0.24964	0.144000	0.22314	0.241000	0.25554	2.038000	0.41184	2.288000	0.76882	0.491000	0.48974	GAT		PASS	0.632	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		10	123	10	123	---	---	---	---
C5AR2	27202	broad.mit.edu	37	19	47844851	47844851	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:47844851C>A	ENST00000595464.1	+	2	1013	c.795C>A	c.(793-795)ctC>ctA	p.L265L	C5AR2_ENST00000600626.1_Silent_p.L265L|C5AR2_ENST00000257267.2_Silent_p.L265L	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	265					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.L265L(1)									ACTCCGCACTCCTGGCCAGGG	0.647																																						uc010ela.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(793-795)CTC>CTA		G protein-coupled receptor 77							38.0	42.0	41.0					19																	47844851		2203	4297	6500	SO:0001819	synonymous_variant	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844851C>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.795C>A	19.37:g.47844851C>A						GPR77_uc002pgk.1_Silent_p.L265L	p.L265L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	1013	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	265			Extracellular (Potential).		B2RA09	Silent	SNP	ENST00000595464.1	37	c.795C>A	CCDS12699.1																																																																																				PASS	0.647	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		23	108	23	108	---	---	---	---
CD37	951	broad.mit.edu	37	19	49840422	49840422	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:49840422C>T	ENST00000323906.4	+	4	427	c.286C>T	c.(286-288)Ctc>Ttc	p.L96F	CD37_ENST00000426897.2_Missense_Mutation_p.L28F|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000598095.1_Missense_Mutation_p.L28F|CD37_ENST00000535669.2_Missense_Mutation_p.L96F	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	96					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L96F(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GATGCTGCTGCTCCTGTTTGC	0.612																																						uc002pnd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(286-288)CTC>TTC		CD37 antigen isoform A							99.0	94.0	96.0					19																	49840422		2203	4300	6503	SO:0001583	missense	951					integral to membrane		g.chr19:49840422C>T		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.286C>T	19.37:g.49840422C>T	ENSP00000325708:p.Leu96Phe					uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.L96F|CD37_uc010yan.1_Missense_Mutation_p.L28F|CD37_uc002pnf.3_Missense_Mutation_p.L68F|CD37_uc002pne.2_Missense_Mutation_p.L28F	p.L96F	NM_001774	NP_001765	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	4	407	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	96			Helical; (Potential).		B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.286C>T	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127462	0.77549	.	.	ENSG00000104894	ENST00000391859;ENST00000323906;ENST00000426897;ENST00000535669	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.35	4.35	0.52113	.	0.000000	0.46442	D	0.000285	D	0.88672	0.6500	M	0.77406	2.37	0.53688	D	0.999978	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	D;D;D;D	0.91635	0.927;0.999;0.999;0.999	D	0.89842	0.4003	10	0.72032	D	0.01	.	12.742	0.57257	0.0:1.0:0.0:0.0	.	28;96;96;96	B4DVC1;B7ZAN3;B4DW15;P11049	.;.;.;CD37_HUMAN	F	96;96;28;96	ENSP00000375732:L96F;ENSP00000325708:L96F;ENSP00000413151:L28F;ENSP00000441037:L96F	ENSP00000325708:L96F	L	+	1	0	CD37	54532234	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.114000	0.50383	2.162000	0.67917	0.467000	0.42956	CTC		PASS	0.612	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			60	42	60	42	---	---	---	---
ZNF610	162963	broad.mit.edu	37	19	52857617	52857617	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:52857617A>G	ENST00000403906.3	+	5	760	c.304A>G	c.(304-306)Aga>Gga	p.R102G	ZNF610_ENST00000327920.8_Missense_Mutation_p.R102G|ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000321287.8_Missense_Mutation_p.R102G	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	102					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.R102G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGAATGTGTCAGAAGCGTGAA	0.413																																						uc002pyx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(304-306)AGA>GGA		zinc finger protein 610 isoform a							75.0	78.0	77.0					19																	52857617		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52857617A>G	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.304A>G	19.37:g.52857617A>G	ENSP00000383922:p.Arg102Gly					ZNF610_uc002pyy.3_Missense_Mutation_p.R102G|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Missense_Mutation_p.R102G	p.R102G	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	710	+			102					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.304A>G	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	A	5.236	0.229034	0.09916	.	.	ENSG00000167554	ENST00000403906;ENST00000327920	T;T	0.05319	3.46;3.46	1.21	0.138	0.14793	.	.	.	.	.	T	0.04861	0.0131	L	0.43152	1.355	0.09310	N	1	B	0.31931	0.347	B	0.23150	0.044	T	0.36841	-0.9731	9	0.66056	D	0.02	.	3.1507	0.06486	0.7307:0.0:0.2693:0.0	.	102	Q8N9Z0	ZN610_HUMAN	G	102	ENSP00000383922:R102G;ENSP00000327597:R102G	ENSP00000327597:R102G	R	+	1	2	ZNF610	57549429	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.658000	0.05329	-0.023000	0.13963	0.421000	0.28195	AGA		PASS	0.413	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		20	57	20	57	---	---	---	---
C20orf141	128653	broad.mit.edu	37	20	2796209	2796209	+	Missense_Mutation	SNP	C	C	A	rs201845024		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:2796209C>A	ENST00000380589.4	+	2	460	c.286C>A	c.(286-288)Cgc>Agc	p.R96S	C20orf141_ENST00000603872.1_Missense_Mutation_p.R96S|TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000554164.1_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	96	Leu-rich.					integral component of membrane (GO:0016021)		p.R96S(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						TCTGCCACAGCGCAAACTTCT	0.617																																						uc010gat.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CGC>AGC		hypothetical protein LOC128653							36.0	34.0	35.0					20																	2796209		2203	4300	6503	SO:0001583	missense	128653					integral to membrane		g.chr20:2796209C>A		CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.286C>A	20.37:g.2796209C>A	ENSP00000369963:p.Arg96Ser					C20orf141_uc002wgv.1_Intron|C20orf141_uc002wgw.2_Missense_Mutation_p.R96S|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	p.R96S	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN			3	369	+			96			Leu-rich.			Missense_Mutation	SNP	ENST00000380589.4	37	c.286C>A	CCDS13034.1	.	.	.	.	.	.	.	.	.	.	C	7.648	0.682328	0.14907	.	.	ENSG00000258713	ENST00000380589	.	.	.	4.43	3.4	0.38934	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.05599	-1.0875	8	0.56958	D	0.05	-2.1389	6.5094	0.22214	0.0:0.8639:0.0:0.1361	.	96	Q9NUB4	CT141_HUMAN	S	96	.	ENSP00000369963:R96S	R	+	1	0	AL035460.3	2744209	0.007000	0.16637	0.044000	0.18714	0.067000	0.16453	1.872000	0.39549	2.311000	0.77944	0.655000	0.94253	CGC		PASS	0.617	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		16	35	16	35	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2819336	2819336	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:2819336C>T	ENST00000360652.2	-	5	1002	c.500G>A	c.(499-501)cGc>cAc	p.R167H	VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R116H|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	167								p.R167H(1)									TTGGTCCATGCGCACAAACAC	0.577																																						uc002wgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(499-501)CGC>CAC		hypothetical protein LOC64773							185.0	160.0	169.0					20																	2819336		2203	4300	6503	SO:0001583	missense	64773						hydrolase activity|protein binding	g.chr20:2819336C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.500G>A	20.37:g.2819336C>T	ENSP00000353868:p.Arg167His					FAM113A_uc002whb.1_Missense_Mutation_p.A19T|FAM113A_uc002wha.1_Missense_Mutation_p.A19T|FAM113A_uc010zqa.1_Missense_Mutation_p.R14H|FAM113A_uc002whc.1_Missense_Mutation_p.R116H|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	p.R167H	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			5	997	-			167					Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.500G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.364870	0.41902	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	3.89	3.89	0.44902	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.195954	0.37393	N	0.002118	T	0.15478	0.0373	L	0.52126	1.63	0.44155	D	0.99695	B;B	0.33755	0.082;0.424	B;B	0.29176	0.021;0.099	T	0.04242	-1.0966	10	0.48119	T	0.1	-15.6657	11.5468	0.50698	0.0:1.0:0.0:0.0	.	116;167	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	H	116;167;116;167	ENSP00000349334:R116H;ENSP00000353868:R167H;ENSP00000388935:R116H;ENSP00000401711:R167H	ENSP00000349334:R116H	R	-	2	0	FAM113A	2767336	0.986000	0.35501	1.000000	0.80357	0.966000	0.64601	3.246000	0.51414	2.205000	0.71048	0.462000	0.41574	CGC		PASS	0.577	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		4	156	4	156	---	---	---	---
BFSP1	631	broad.mit.edu	37	20	17489538	17489538	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:17489538G>T	ENST00000377873.3	-	5	770	c.731C>A	c.(730-732)gCa>gAa	p.A244E	BFSP1_ENST00000544874.1_Missense_Mutation_p.A105E|BFSP1_ENST00000536626.1_Missense_Mutation_p.A105E|BFSP1_ENST00000377868.2_Missense_Mutation_p.A119E	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	244	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.A244E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCGTACCTGTGCCTGCAGCTC	0.652																																						uc002wpo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(730-732)GCA>GAA		filensin isoform 1							27.0	23.0	24.0					20																	17489538		2201	4299	6500	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17489538G>T	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.731C>A	20.37:g.17489538G>T	ENSP00000367104:p.Ala244Glu					BFSP1_uc002wpp.2_Missense_Mutation_p.A119E|BFSP1_uc010zrn.1_Missense_Mutation_p.A105E|BFSP1_uc010zro.1_Missense_Mutation_p.A105E	p.A244E	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			5	770	-			244			Rod.|Coil 2.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.731C>A	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270293	0.80469	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.87029	-2.2;1.51;1.51;1.51	5.08	5.08	0.68730	.	0.338684	0.32459	N	0.006066	D	0.92136	0.7507	M	0.65975	2.015	0.32499	N	0.539124	D;P	0.76494	0.999;0.938	D;P	0.69479	0.964;0.495	D	0.92550	0.6049	10	0.38643	T	0.18	-17.4147	17.4314	0.87540	0.0:0.0:1.0:0.0	.	119;244	Q12934-2;Q12934	.;BFSP1_HUMAN	E	244;119;105;105	ENSP00000367104:A244E;ENSP00000367099:A119E;ENSP00000442522:A105E;ENSP00000439870:A105E	ENSP00000367099:A119E	A	-	2	0	BFSP1	17437538	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.598000	0.54038	2.525000	0.85131	0.555000	0.69702	GCA		PASS	0.652	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		3	4	3	4	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45865220	45865220	+	Silent	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:45865220G>T	ENST00000311275.7	-	16	2899	c.2646C>A	c.(2644-2646)tcC>tcA	p.S882S	ZMYND8_ENST00000468376.2_5'Flank|ZMYND8_ENST00000355972.4_Silent_p.S882S|ZMYND8_ENST00000446994.2_Silent_p.S773S|ZMYND8_ENST00000471951.2_Silent_p.S902S|ZMYND8_ENST00000372023.3_Silent_p.S831S|ZMYND8_ENST00000540497.1_Silent_p.S830S|ZMYND8_ENST00000360911.3_Silent_p.S831S|ZMYND8_ENST00000536340.1_Silent_p.S909S|ZMYND8_ENST00000262975.4_Silent_p.S836S|ZMYND8_ENST00000461685.1_Silent_p.S856S|ZMYND8_ENST00000352431.2_Silent_p.S856S|ZMYND8_ENST00000396281.4_Silent_p.S882S|ZMYND8_ENST00000458360.2_Silent_p.S750S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	882					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.S856S(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGTGATGGTGGACGTGGATG	0.592																																						uc002xta.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(2644-2646)TCC>TCA		zinc finger, MYND-type containing 8 isoform b							191.0	127.0	149.0					20																	45865220		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45865220G>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2646C>A	20.37:g.45865220G>T						ZMYND8_uc010ghq.1_Silent_p.S513S|ZMYND8_uc010ghr.1_Silent_p.S811S|ZMYND8_uc002xst.1_Silent_p.S764S|ZMYND8_uc002xsu.1_Silent_p.S755S|ZMYND8_uc002xsv.1_Silent_p.S810S|ZMYND8_uc002xsw.1_Silent_p.S588S|ZMYND8_uc002xsx.1_Silent_p.S588S|ZMYND8_uc002xsy.1_Silent_p.S811S|ZMYND8_uc002xsz.1_Silent_p.S773S|ZMYND8_uc010zxy.1_Silent_p.S909S|ZMYND8_uc002xtb.1_Silent_p.S856S|ZMYND8_uc002xss.2_Silent_p.S882S|ZMYND8_uc010zxz.1_Silent_p.S750S|ZMYND8_uc002xtc.1_Silent_p.S856S|ZMYND8_uc002xtd.1_Silent_p.S831S|ZMYND8_uc002xte.1_Silent_p.S836S|ZMYND8_uc010zya.1_Silent_p.S882S|ZMYND8_uc002xtf.1_Silent_p.S902S|ZMYND8_uc002xsr.1_5'UTR	p.S882S	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		16	2900	-			882					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.2646C>A		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236307	0.22626	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.74	1.16	0.20824	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29671	-1.0004	4	.	.	.	-16.7441	1.9321	0.03329	0.1985:0.1148:0.4517:0.235	.	.	.	.	N	764	.	.	H	-	1	0	ZMYND8	45298627	0.910000	0.30920	1.000000	0.80357	0.988000	0.76386	-0.057000	0.11768	0.722000	0.32252	0.655000	0.94253	CAC		PASS	0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		20	43	20	43	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45905064	45905064	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:45905064T>C	ENST00000311275.7	-	11	1667	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S472G|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S409G|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S492G|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S467G|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S467G|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S467G|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S499G|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S472G|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S492G|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S492G|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S472G|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S467G	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	472					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.S492G(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGACCTGTGCTCTTATCCAGG	0.627																																						uc002xta.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1414-1416)AGC>GGC		zinc finger, MYND-type containing 8 isoform b							40.0	33.0	36.0					20																	45905064		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905064T>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1414A>G	20.37:g.45905064T>C	ENSP00000312237:p.Ser472Gly					ZMYND8_uc010ghq.1_Missense_Mutation_p.S149G|ZMYND8_uc010ghr.1_Missense_Mutation_p.S447G|ZMYND8_uc002xst.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsu.1_Missense_Mutation_p.S472G|ZMYND8_uc002xsv.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsw.1_Missense_Mutation_p.S224G|ZMYND8_uc002xsx.1_Missense_Mutation_p.S224G|ZMYND8_uc002xsy.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsz.1_Missense_Mutation_p.S409G|ZMYND8_uc010zxy.1_Missense_Mutation_p.S499G|ZMYND8_uc002xtb.1_Missense_Mutation_p.S492G|ZMYND8_uc002xss.2_Missense_Mutation_p.S472G|ZMYND8_uc010zxz.1_Missense_Mutation_p.S467G|ZMYND8_uc002xtc.1_Missense_Mutation_p.S492G|ZMYND8_uc002xtd.1_Missense_Mutation_p.S467G|ZMYND8_uc002xte.1_Missense_Mutation_p.S472G|ZMYND8_uc010zya.1_Missense_Mutation_p.S472G|ZMYND8_uc002xtf.1_Missense_Mutation_p.S492G|ZMYND8_uc002xtg.2_Missense_Mutation_p.S466G|ZMYND8_uc010ghs.1_Missense_Mutation_p.S466G	p.S472G	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1668	-			472					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1414A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.46|15.46	2.839130|2.839130	0.51057|0.51057	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89875	.|-1.72;-1.61;-1.73;-1.62;-1.61;-1.61;-1.73;-1.62;-1.61;-2.58;-1.62;-1.72;-1.66	5.51|5.51	4.42|4.42	0.53409|0.53409	.|.	.|0.276491	.|0.38663	.|N	.|0.001620	D|D	0.84397|0.84397	0.5463|0.5463	L|L	0.34521|0.34521	1.04|1.04	0.28843|0.28843	N|N	0.896488|0.896488	.|P;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B	.|0.49961	.|0.93;0.202;0.146;0.367;0.238;0.416;0.202;0.202;0.499;0.12;0.202;0.146;0.24;0.24;0.412;0.0;0.357;0.146	.|P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.45167	.|0.472;0.281;0.257;0.338;0.186;0.314;0.209;0.209;0.167;0.149;0.149;0.314;0.309;0.314;0.257;0.001;0.257;0.314	T|T	0.79557|0.79557	-0.1754|-0.1754	5|10	.|0.54805	.|T	.|0.06	-13.3397|-13.3397	11.1048|11.1048	0.48197|0.48197	0.0:0.0718:0.0:0.9282|0.0:0.0718:0.0:0.9282	.|.	.|467;499;467;467;447;466;492;472;467;492;492;472;409;467;467;492;467;472	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	G|G	398|467;472;467;472;492;492;472;499;472;409;492;467;467	.|ENSP00000354166:S467G;ENSP00000312237:S472G;ENSP00000392964:S467G;ENSP00000262975:S472G;ENSP00000420095:S492G;ENSP00000335537:S492G;ENSP00000379577:S472G;ENSP00000439800:S499G;ENSP00000348246:S472G;ENSP00000396725:S409G;ENSP00000418210:S492G;ENSP00000361093:S467G;ENSP00000443086:S467G	.|ENSP00000262975:S472G	E|S	-|-	2|1	0|0	ZMYND8|ZMYND8	45338471|45338471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.851000|2.851000	0.48302|0.48302	0.942000|0.942000	0.37525|0.37525	0.533000|0.533000	0.62120|0.62120	GAG|AGC		PASS	0.627	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		18	12	18	12	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50049292	50049292	+	Splice_Site	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:50049292G>A	ENST00000396009.3	-	9	2253	c.2034C>T	c.(2032-2034)gtC>gtT	p.V678V	NFATC2_ENST00000371564.3_Splice_Site_p.V678V|NFATC2_ENST00000609507.1_Splice_Site_p.V459V|NFATC2_ENST00000414705.1_Splice_Site_p.V658V|NFATC2_ENST00000609943.1_Splice_Site_p.V658V|NFATC2_ENST00000610033.1_Splice_Site_p.V459V	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	678					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V678V(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGATGGCTGGGACTGGGAGGA	0.607																																						uc002xwd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2032-2034)GTC>GTT		nuclear factor of activated T-cells,							23.0	24.0	23.0					20																	50049292		2058	4095	6153	SO:0001630	splice_region_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50049292G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2033-1C>T	20.37:g.50049292G>A						NFATC2_uc002xwc.2_Silent_p.V678V|NFATC2_uc010zyv.1_Silent_p.V459V|NFATC2_uc010zyw.1_Silent_p.V459V|NFATC2_uc010zyx.1_Silent_p.V658V|NFATC2_uc010zyy.1_Silent_p.V459V|NFATC2_uc010zyz.1_Silent_p.V459V|NFATC2_uc002xwe.2_Silent_p.V658V	p.V678V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2254	-	Hepatocellular(150;0.248)		678					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.2034C>T	CCDS13437.1																																																																																				PASS	0.607	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	Silent	8	41	8	41	---	---	---	---
SLCO4A1	28231	broad.mit.edu	37	20	61288044	61288044	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:61288044G>A	ENST00000370507.1	+	1	334	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.A80T			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	80					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A80T(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTACGTCTCGGCCGGGCAGAG	0.706																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)GCC>ACC		solute carrier organic anion transporter family							18.0	16.0	17.0					20																	61288044		2188	4290	6478	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288044G>A	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.238G>A	20.37:g.61288044G>A	ENSP00000359538:p.Ala80Thr					SLCO4A1_uc002ydc.1_RNA	p.A80T	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	443	+	Breast(26;3.65e-08)		80			Cytoplasmic (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.238G>A	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279879	0.40294	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.41065	1.01;1.01	4.05	0.271	0.15640	.	1.760340	0.02988	N	0.146484	T	0.36880	0.0983	L	0.59436	1.845	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.07770	-1.0755	10	0.14656	T	0.56	.	4.7566	0.13086	0.184:0.0:0.3172:0.4988	.	80	Q96BD0	SO4A1_HUMAN	T	80	ENSP00000217159:A80T;ENSP00000359538:A80T	ENSP00000217159:A80T	A	+	1	0	SLCO4A1	60758489	0.000000	0.05858	0.002000	0.10522	0.424000	0.31475	-0.308000	0.08156	-0.113000	0.11958	0.462000	0.41574	GCC		PASS	0.706	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		5	7	5	7	---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G	rs200931909		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:62120282T>G	ENST00000298049.7	-	6	1323	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.Y418S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667																																						uc002yfd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1252-1254)TAC>TCC		eukaryotic translation elongation factor 1 alpha							28.0	29.0	29.0					20																	62120282		2189	4283	6472	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120282T>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1253A>C	20.37:g.62120282T>G	ENSP00000298049:p.Tyr418Ser					EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron	p.Y418S	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1354	-	all_cancers(38;9.45e-12)		418					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1253A>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511359	0.64522	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.44881	0.91;0.91	3.12	3.12	0.35913	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.170048	0.39759	N	0.001263	T	0.74405	0.3712	H	0.96142	3.775	0.80722	D	1	P	0.39696	0.683	D	0.68039	0.955	T	0.79629	-0.1724	10	0.87932	D	0	-10.4709	11.6664	0.51376	0.0:0.0:0.0:1.0	.	418	Q05639	EF1A2_HUMAN	S	418	ENSP00000298049:Y418S;ENSP00000217182:Y418S	ENSP00000217182:Y418S	Y	-	2	0	EEF1A2	61590726	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	5.966000	0.70395	1.187000	0.43000	0.392000	0.25879	TAC		PASS	0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		5	18	5	18	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62200693	62200693	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr20:62200693C>A	ENST00000467148.1	-	4	965	c.896G>T	c.(895-897)cGc>cTc	p.R299L	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	299					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R299L(1)									CACCACGTGGCGGTTGCCAGT	0.701																																						uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(895-897)CGC>CTC		PPAR-alpha interacting complex protein 285							18.0	20.0	20.0					20																	62200693		2185	4294	6479	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62200693C>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.896G>T	20.37:g.62200693C>A	ENSP00000417401:p.Arg299Leu					PRIC285_uc002yfl.1_5'Flank	p.R299L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		5	1788	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		299					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.896G>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122658	0.56613	.	.	ENSG00000130589	ENST00000467148	T	0.22743	1.94	4.5	4.5	0.54988	.	0.133670	0.50627	D	0.000109	T	0.43478	0.1249	M	0.73598	2.24	0.35935	D	0.832811	D	0.89917	1.0	D	0.72625	0.978	T	0.56353	-0.7993	10	0.59425	D	0.04	-12.3308	10.8284	0.46647	0.0:0.9119:0.0:0.0881	.	299	Q9BYK8	PR285_HUMAN	L	299	ENSP00000417401:R299L	ENSP00000417401:R299L	R	-	2	0	RP4-697K14.7	61671137	0.993000	0.37304	0.923000	0.36655	0.117000	0.20001	3.116000	0.50399	2.068000	0.61886	0.563000	0.77884	CGC		PASS	0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	12	7	12	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32496948	32496948	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr21:32496948T>C	ENST00000286827.3	-	28	4669	c.4198A>G	c.(4198-4200)Aga>Gga	p.R1400G	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1340G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1400					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1400G(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGAGCTGTCTTCTGTGCTTA	0.498																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(4198-4200)AGA>GGA		T-cell lymphoma invasion and metastasis 1							101.0	84.0	89.0					21																	32496948		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32496948T>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4198A>G	21.37:g.32496948T>C	ENSP00000286827:p.Arg1400Gly					TIAM1_uc011adk.1_Missense_Mutation_p.R1400G|TIAM1_uc011adl.1_Missense_Mutation_p.R1340G	p.R1400G	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			28	4670	-			1400					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4198A>G	CCDS13609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.82|19.82	3.899033|3.899033	0.72754|0.72754	.|.	.|.	ENSG00000156299|ENSG00000156299	ENST00000461148|ENST00000286827;ENST00000541036	.|T;T	.|0.56611	.|0.45;0.51	4.91|4.91	-0.797|-0.797	0.10909|0.10909	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65080|0.65080	0.2657|0.2657	M|M	0.74258|0.74258	2.255|2.255	0.49483|0.49483	D|D	0.99979|0.99979	.|D;D;D	.|0.67145	.|0.996;0.992;0.992	.|D;P;P	.|0.64595	.|0.927;0.847;0.847	T|T	0.66901|0.66901	-0.5806|-0.5806	5|10	.|0.66056	.|D	.|0.02	.|.	10.8092|10.8092	0.46535|0.46535	0.0:0.0691:0.5768:0.354|0.0:0.0691:0.5768:0.354	.|.	.|1340;1340;1400	.|F5GZ53;B7ZLR6;Q13009	.|.;.;TIAM1_HUMAN	R|G	14|1400;1340	.|ENSP00000286827:R1400G;ENSP00000441570:R1340G	.|ENSP00000286827:R1400G	K|R	-|-	2|1	0|2	TIAM1|TIAM1	31418819|31418819	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.993000|0.993000	0.82548|0.82548	0.441000|0.441000	0.21611|0.21611	0.028000|0.028000	0.15324|0.15324	0.460000|0.460000	0.39030|0.39030	AAG|AGA		PASS	0.498	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		10	32	10	32	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24837043	24837043	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr22:24837043C>A	ENST00000337539.7	+	3	1284	c.825C>A	c.(823-825)gtC>gtA	p.V275V	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA	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	275					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.V275V(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)	TGGCCATCGTCCTCTCCCACA	0.577																																						uc002zzx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)GTC>GTA		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						105.0	96.0	99.0					22																	24837043		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:24837043C>A	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.825C>A	22.37:g.24837043C>A						ADORA2A_uc002zzy.3_Silent_p.V275V|ADORA2A_uc011ajs.1_Silent_p.V136V|ADORA2A_uc010gup.2_Silent_p.V275V|ADORA2A_uc010guq.2_Silent_p.V275V|ADORA2A_uc003aab.2_Silent_p.V275V|ADORA2A_uc003aac.2_Silent_p.V136V|C22orf45_uc003aad.1_Intron	p.V275V	NM_000675	NP_000666	P29274	AA2AR_HUMAN			5	1588	+	Colorectal(2;0.196)		275			Helical; Name=7.		B2R7E0	Silent	SNP	ENST00000337539.7	37	c.825C>A	CCDS13826.1																																																																																				PASS	0.577	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		18	39	18	39	---	---	---	---
CDC42EP1	11135	broad.mit.edu	37	22	37964498	37964498	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr22:37964498C>A	ENST00000249014.4	+	3	1267	c.847C>A	c.(847-849)Cat>Aat	p.H283N		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	283					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.H283N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CTCCACACCCCATGGACACTG	0.677																																						uc003asz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)CAT>AAT		CDC42 effector protein 1							17.0	15.0	16.0					22																	37964498		2201	4294	6495	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37964498C>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.847C>A	22.37:g.37964498C>A	ENSP00000249014:p.His283Asn						p.H283N	NM_152243	NP_689449	Q00587	BORG5_HUMAN			3	1250	+	Melanoma(58;0.0574)		283					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.847C>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775194	0.31411	.	.	ENSG00000128283	ENST00000249014	T	0.28666	1.6	4.9	1.61	0.23674	.	2.574380	0.01209	N	0.007787	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.16722	0.016	T	0.18524	-1.0334	10	0.18276	T	0.48	0.3699	6.8615	0.24069	0.141:0.7039:0.0:0.1551	.	283	Q00587	BORG5_HUMAN	N	283	ENSP00000249014:H283N	ENSP00000249014:H283N	H	+	1	0	CDC42EP1	36294444	.	.	0.007000	0.13788	0.039000	0.13416	.	.	0.205000	0.20568	-0.258000	0.10820	CAT		PASS	0.677	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		3	4	3	4	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43926757	43926757	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr22:43926757G>T	ENST00000262726.7	-	31	4574	c.4321C>A	c.(4321-4323)Cgc>Agc	p.R1441S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1289S|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.3_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1441	EF-hand 16. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R1441S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGAACGTGCGCCGCATTGGC	0.567																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(4321-4323)CGC>AGC		CAP-binding protein complex interacting protein							81.0	73.0	76.0					22																	43926757		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43926757G>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4321C>A	22.37:g.43926757G>T	ENSP00000262726:p.Arg1441Ser					EFCAB6_uc003bdz.1_Missense_Mutation_p.R1289S|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1289S	p.R1441S	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			31	4536	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1441			Interaction with AR.|EF-hand 16.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.4321C>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772982	0.69992	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.72835	-0.69;-0.69	4.56	3.48	0.39840	EF-hand-like domain (1);	0.068442	0.53938	D	0.000043	T	0.81380	0.4810	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78959	-0.1998	10	0.26408	T	0.33	-19.7291	12.0578	0.53546	0.0:0.0:0.8287:0.1712	.	1441	Q5THR3	EFCB6_HUMAN	S	1289;1441	ENSP00000379533:R1289S;ENSP00000262726:R1441S	ENSP00000262726:R1441S	R	-	1	0	EFCAB6	42258090	0.562000	0.26586	0.849000	0.33467	0.755000	0.42902	1.492000	0.35594	2.352000	0.79861	0.655000	0.94253	CGC		PASS	0.567	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		20	31	20	31	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46932037	46932037	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr22:46932037T>G	ENST00000262738.3	-	1	1030	c.1031A>C	c.(1030-1032)aAa>aCa	p.K344T	CELSR1_ENST00000395964.1_Missense_Mutation_p.K344T|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	344	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.K344T(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTTGGTGTCTTTGACCAAGAC	0.647																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(1030-1032)AAA>ACA		cadherin EGF LAG seven-pass G-type receptor 1							97.0	80.0	86.0					22																	46932037		2201	4300	6501	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46932037T>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1031A>C	22.37:g.46932037T>G	ENSP00000262738:p.Lys344Thr						p.K344T	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1031	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	344			Extracellular (Potential).|Cadherin 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1031A>C	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	2.755	-0.259206	0.05791	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.01172	5.23;5.23	4.33	3.31	0.37934	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.129022	0.49305	U	0.000147	T	0.00496	0.0016	N	0.00788	-1.185	0.27861	N	0.940403	B	0.11235	0.004	B	0.17098	0.017	T	0.43130	-0.9410	10	0.08381	T	0.77	.	11.0246	0.47739	0.0:0.9041:0.0:0.0959	.	344	Q9NYQ6	CELR1_HUMAN	T	344	ENSP00000262738:K344T;ENSP00000379293:K344T	ENSP00000262738:K344T	K	-	2	0	CELSR1	45310701	0.993000	0.37304	0.991000	0.47740	0.316000	0.28119	3.013000	0.49582	0.795000	0.33922	-0.464000	0.05259	AAA		PASS	0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		11	37	11	37	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811526	5811526	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:5811526G>A	ENST00000381095.3	-	6	2410	c.1783C>T	c.(1783-1785)Cct>Tct	p.P595S	NLGN4X_ENST00000538097.1_Missense_Mutation_p.P595S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P615S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P595S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P595S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	595					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.P595S(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGCAAATGAGGAACGAGTTCC	0.468																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1783-1785)CCT>TCT		X-linked neuroligin 4 precursor							173.0	161.0	165.0					X																	5811526		2170	4258	6428	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811526G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1783C>T	X.37:g.5811526G>A	ENSP00000370485:p.Pro595Ser					NLGN4X_uc004crp.2_Missense_Mutation_p.P615S|NLGN4X_uc004crq.2_Missense_Mutation_p.P595S|NLGN4X_uc010ndi.2_Missense_Mutation_p.P632S|NLGN4X_uc004crr.2_Missense_Mutation_p.P595S|NLGN4X_uc010ndj.2_Missense_Mutation_p.P595S	p.P595S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2284	-			595			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1783C>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579896	0.65992	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	4.1	4.1	0.47936	.	0.000000	0.36628	N	0.002493	T	0.73218	0.3559	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.78314	0.991;0.887;0.981	T	0.77547	-0.2547	10	0.87932	D	0	.	14.7802	0.69760	0.0:0.0:1.0:0.0	.	652;595;615	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	S	595;615;595;595;595	ENSP00000370485:P595S;ENSP00000370483:P615S;ENSP00000275857:P595S;ENSP00000370482:P595S;ENSP00000439203:P595S	ENSP00000275857:P595S	P	-	1	0	NLGN4X	5821526	1.000000	0.71417	0.011000	0.14972	0.724000	0.41520	8.442000	0.90317	1.654000	0.50703	0.513000	0.50165	CCT		PASS	0.468	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		44	72	44	72	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17750482	17750482	+	Silent	SNP	C	C	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:17750482C>G	ENST00000380060.3	+	8	5129	c.4791C>G	c.(4789-4791)cgC>cgG	p.R1597R	NHS_ENST00000398097.3_Silent_p.R1441R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1618					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.R1597R(1)|p.R1441R(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)					ACAGTGTCCGCTGCCGGCTGT	0.587																																						uc004cxx.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4789-4791)CGC>CGG		Nance-Horan syndrome protein isoform 1							52.0	53.0	53.0					X																	17750482		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17750482C>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4791C>G	X.37:g.17750482C>G						NHS_uc011mix.1_Silent_p.R1618R|NHS_uc004cxy.2_Silent_p.R1441R|NHS_uc004cxz.2_Silent_p.R1420R|NHS_uc004cya.2_Silent_p.R1320R	p.R1597R	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			8	5129	+	Hepatocellular(33;0.183)		1597					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.4791C>G	CCDS14181.1																																																																																				PASS	0.587	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		29	54	29	54	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37961665	37961665	+	Missense_Mutation	SNP	G	G	A	rs148783666		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:37961665G>A	ENST00000357972.5	+	10	1679	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.R378H|SYTL5_ENST00000297875.2_Missense_Mutation_p.R378H			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	378					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R378H(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AACACTCACCGTCTGGCAAGT	0.413													G|||	1	0.000264901	0.0008	0.0	3775	,	,		13259	0.0		0.0	False		,,,				2504	0.0					uc004ddu.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(1132-1134)CGT>CAT		synaptotagmin-like 5 isoform 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,3832		0,1,1630,571	123.0	101.0	108.0		1133,1133,1133	5.0	1.0	X	dbSNP_134	108	0,6728		0,0,2428,1872	yes	missense,missense,missense	SYTL5	NM_001163334.1,NM_001163335.1,NM_138780.2	29,29,29	0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign	378/753,378/731,378/731	37961665	1,10560	2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37961665G>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1133G>A	X.37:g.37961665G>A	ENSP00000350657:p.Arg378His					SYTL5_uc004ddv.2_Missense_Mutation_p.R378H|SYTL5_uc004ddx.2_Missense_Mutation_p.R378H	p.R378H	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			11	1667	+			378					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1133G>A	CCDS14244.1	2	0.0012055455093429777	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	10.58	1.390703	0.25118	2.61E-4	0.0	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.21361	2.01;2.01;2.27	5.0	5.0	0.66597	.	0.432082	0.27393	N	0.019567	T	0.11495	0.0280	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.11891	-1.0569	10	0.42905	T	0.14	-13.9204	6.8046	0.23770	0.1783:0.0:0.8217:0.0	.	378;378	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	H	378	ENSP00000297875:R378H;ENSP00000350657:R378H;ENSP00000395220:R378H	ENSP00000297875:R378H	R	+	2	0	SYTL5	37846609	0.979000	0.34478	0.998000	0.56505	0.266000	0.26442	2.526000	0.45607	2.059000	0.61396	0.594000	0.82650	CGT		PASS	0.413	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		24	47	24	47	---	---	---	---
OTC	5009	broad.mit.edu	37	X	38226644	38226644	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:38226644T>A	ENST00000039007.4	+	2	330	c.178T>A	c.(178-180)Tca>Aca	p.S60T	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	60			S -> L (in OTCD).		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.S60T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GCTATGGCTATCAGCAGATCT	0.378																																						uc004def.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(178-180)TCA>ACA		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						60.0	61.0	60.0					X																	38226644		2202	4299	6501	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38226644T>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.178T>A	X.37:g.38226644T>A	ENSP00000039007:p.Ser60Thr						p.S60T	NM_000531	NP_000522	P00480	OTC_HUMAN			2	392	+			60		S -> L (in OTCD).			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.178T>A	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857131	0.51376	.	.	ENSG00000036473	ENST00000039007	D	0.99070	-5.39	5.39	5.39	0.77823	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.122888	0.56097	D	0.000025	D	0.97892	0.9307	L	0.56124	1.755	0.35245	D	0.778151	B	0.32717	0.381	B	0.41271	0.352	D	0.99970	1.1977	10	0.56958	D	0.05	-8.0146	9.2853	0.37753	0.0:0.0:0.3135:0.6865	.	60	P00480	OTC_HUMAN	T	60	ENSP00000039007:S60T	ENSP00000039007:S60T	S	+	1	0	OTC	38111588	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.485000	0.53208	1.801000	0.52704	0.345000	0.21793	TCA		PASS	0.378	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			33	66	33	66	---	---	---	---
OTC	5009	broad.mit.edu	37	X	38268031	38268031	+	Missense_Mutation	SNP	G	G	A	rs72558430		TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:38268031G>A	ENST00000039007.4	+	7	852	c.700G>A	c.(700-702)Gag>Aag	p.E234K	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	234					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.E234K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CAAGTTGGCAGAGCAGTATGC	0.333																																						uc004def.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2	GRCh37	CM062948	OTC	M	rs72558430	c.(700-702)GAG>AAG		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						146.0	109.0	122.0					X																	38268031		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38268031G>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.700G>A	X.37:g.38268031G>A	ENSP00000039007:p.Glu234Lys						p.E234K	NM_000531	NP_000522	P00480	OTC_HUMAN			7	914	+			234					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.700G>A	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	4.723	0.134490	0.09032	.	.	ENSG00000036473	ENST00000039007	D	0.98968	-5.28	5.88	3.16	0.36331	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.190900	0.56097	N	0.000033	D	0.93887	0.8044	N	0.13168	0.305	0.51233	D	0.999912	B	0.11235	0.004	B	0.10450	0.005	D	0.88220	0.2896	10	0.05620	T	0.96	-27.2058	10.9616	0.47389	0.2109:0.0:0.7891:0.0	.	234	P00480	OTC_HUMAN	K	234	ENSP00000039007:E234K	ENSP00000039007:E234K	E	+	1	0	OTC	38152975	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	1.760000	0.38430	0.632000	0.30432	-0.192000	0.12808	GAG		PASS	0.333	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			17	33	17	33	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47104082	47104082	+	Splice_Site	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:47104082A>G	ENST00000218348.3	+	15	1974	c.1974A>G	c.(1972-1974)gaA>gaG	p.E658E	USP11_ENST00000377107.2_Splice_Site_p.E615E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	658	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.E658E(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						CTGTCCTAGAAGATGACGAGG	0.587																																						uc004dhp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1972-1974)GAA>GAG		ubiquitin specific peptidase 11							25.0	19.0	21.0					X																	47104082		2202	4300	6502	SO:0001630	splice_region_variant	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:47104082A>G	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.1973-1A>G	X.37:g.47104082A>G						USP11_uc004dhq.2_Splice_Site_p.D385_splice	p.E658E	NM_004651	NP_004642	P51784	UBP11_HUMAN			15	1974	+			658					B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.1974A>G	CCDS14277.1																																																																																				PASS	0.587	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Silent	6	11	6	11	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53228048	53228048	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:53228048G>T	ENST00000375401.3	-	16	2798	c.2266C>A	c.(2266-2268)Ctt>Att	p.L756I	KDM5C_ENST00000375379.3_Missense_Mutation_p.L756I|KDM5C_ENST00000375383.3_Missense_Mutation_p.L715I|KDM5C_ENST00000452825.3_Missense_Mutation_p.L689I|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000404049.3_Missense_Mutation_p.L755I	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	756					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.L756I(3)|p.L689I(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGGCAGGAAGCTCATCCAAG	0.587			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2				Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		5	Substitution - Missense(5)		endometrium(3)|lung(2)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(2266-2268)CTT>ATT		jumonji, AT rich interactive domain 1C isoform							97.0	69.0	79.0					X																	53228048		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53228048G>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2266C>A	X.37:g.53228048G>T	ENSP00000364550:p.Leu756Ile					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.L689I|KDM5C_uc004dsa.2_Missense_Mutation_p.L755I	p.L756I	NM_004187	NP_004178	P41229	KDM5C_HUMAN			16	2799	-			756					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.2266C>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104153	0.56291	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	4.45	3.35	0.38373	Zinc finger, C5HC2-type (1);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.85630	2.765	0.42061	D	0.991165	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.72338	0.971;0.977;0.977	D	0.96707	0.9522	10	0.87932	D	0	-15.0051	9.7376	0.40397	0.1315:0.0:0.8685:0.0	.	689;755;756	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	I	689;756;755;756;715	ENSP00000445176:L689I;ENSP00000364550:L756I;ENSP00000385394:L755I;ENSP00000364528:L756I;ENSP00000364532:L715I	ENSP00000364528:L756I	L	-	1	0	KDM5C	53244773	0.999000	0.42202	1.000000	0.80357	0.782000	0.44232	2.583000	0.46094	1.814000	0.52955	0.284000	0.19432	CTT		PASS	0.587	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		6	52	6	52	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54952922	54952922	+	Splice_Site	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:54952922G>C	ENST00000173898.7	+	8	1769	c.1657G>C	c.(1657-1659)Gct>Cct	p.A553P	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Splice_Site_p.A553P|TRO_ENST00000375041.2_Splice_Site_p.A156P|TRO_ENST00000399736.1_Splice_Site_p.A156P|TRO_ENST00000420798.2_Splice_Site_p.A84P|TRO_ENST00000375022.4_Splice_Site_p.A553P	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	553	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A553P(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGCCAGTGAGGGTGAGTGGCT	0.522																																						uc004dtq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1657-1659)GCT>CCT		trophinin isoform 5							108.0	110.0	109.0					X																	54952922		2203	4300	6503	SO:0001630	splice_region_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54952922G>C	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1657+1G>C	X.37:g.54952922G>C						TRO_uc004dts.2_Missense_Mutation_p.A553P|TRO_uc004dtr.2_Missense_Mutation_p.A553P|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.A156P|TRO_uc011mok.1_Missense_Mutation_p.A84P|TRO_uc004dtw.2_Missense_Mutation_p.A156P|TRO_uc004dtx.2_5'UTR	p.A553P	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			8	1764	+			553			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1657G>C	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423927	0.43020	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51;3.51	3.08	2.19	0.27852	.	.	.	.	.	T	0.20780	0.0500	M	0.78801	2.425	0.37899	D	0.930982	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.979;0.968;0.999;0.979	T	0.02115	-1.1211	9	0.87932	D	0	.	7.0846	0.25249	0.0:0.0:0.5113:0.4887	.	156;156;553;553	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	P	553;553;553;156;156;84;156	ENSP00000173898:A553P;ENSP00000318278:A553P;ENSP00000364162:A553P;ENSP00000382641:A156P;ENSP00000405126:A84P;ENSP00000364181:A156P	ENSP00000173898:A553P	A	+	1	0	TRO	54969647	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.342000	0.33919	0.661000	0.30985	0.513000	0.50165	GCT		PASS	0.522	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	Missense_Mutation	20	38	20	38	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64749617	64749617	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:64749617A>C	ENST00000374811.3	-	5	696	c.656T>G	c.(655-657)gTt>gGt	p.V219G	LAS1L_ENST00000374807.5_Missense_Mutation_p.V219G|LAS1L_ENST00000374804.5_Missense_Mutation_p.V177G|LAS1L_ENST00000312391.8_Missense_Mutation_p.V219G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	219					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.V219G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GATGTCATCAACAACAATGTT	0.502																																						uc004dwa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(655-657)GTT>GGT		LAS1-like							255.0	212.0	227.0					X																	64749617		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64749617A>C	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.656T>G	X.37:g.64749617A>C	ENSP00000363944:p.Val219Gly					LAS1L_uc004dwc.1_Missense_Mutation_p.V219G|LAS1L_uc004dwd.1_Missense_Mutation_p.V177G	p.V219G	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			5	728	-			219					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.656T>G	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	A	9.486	1.099473	0.20552	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.47	-0.798	0.10905	.	0.447105	0.18983	N	0.125828	T	0.29256	0.0728	L	0.51422	1.61	0.09310	N	0.999996	B;B;B	0.32829	0.386;0.045;0.267	B;B;B	0.34242	0.178;0.023;0.039	T	0.11690	-1.0577	9	0.33940	T	0.23	.	3.2437	0.06789	0.4661:0.0:0.3115:0.2225	.	177;219;219	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	G	219;219;177;219	.	ENSP00000308649:V219G	V	-	2	0	LAS1L	64666342	0.002000	0.14202	0.057000	0.19452	0.012000	0.07955	-0.107000	0.10873	-0.003000	0.14444	0.486000	0.48141	GTT		PASS	0.502	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		48	129	48	129	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70347886	70347886	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:70347886G>T	ENST00000374080.3	+	22	3157	c.3125G>T	c.(3124-3126)aGt>aTt	p.S1042I	MED12_ENST00000374102.1_Missense_Mutation_p.S1042I|MED12_ENST00000333646.6_Missense_Mutation_p.S1042I			Q93074	MED12_HUMAN	mediator complex subunit 12	1042					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S1042I(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTAGGCAAGAGTCTTAGTGAG	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3124-3126)AGT>ATT		mediator complex subunit 12							86.0	79.0	81.0					X																	70347886		2010	4177	6187	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70347886G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3125G>T	X.37:g.70347886G>T	ENSP00000363193:p.Ser1042Ile					MED12_uc011mpq.1_Missense_Mutation_p.S1042I|MED12_uc004dyz.2_Missense_Mutation_p.S1042I|MED12_uc004dza.2_Missense_Mutation_p.S889I|MED12_uc010nla.2_5'Flank	p.S1042I	NM_005120	NP_005111	Q93074	MED12_HUMAN			22	3324	+	Renal(35;0.156)		1042					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3125G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.060861	0.36373	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.85	4.85	0.62838	.	0.048305	0.85682	D	0.000000	T	0.49729	0.1574	N	0.00926	-1.1	0.41585	D	0.98876	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.001	T	0.51631	-0.8681	10	0.33141	T	0.24	-10.0549	12.5362	0.56142	0.0:0.0:0.8338:0.1662	.	1042;889;1042;1042	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	1042;1042;1042;1042;1010	ENSP00000333125:S1042I;ENSP00000363215:S1042I;ENSP00000363193:S1042I;ENSP00000414203:S1010I	ENSP00000333125:S1042I	S	+	2	0	MED12	70264611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.621000	0.54210	2.388000	0.81334	0.597000	0.82753	AGT		PASS	0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		15	39	15	39	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128311	83128311	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:83128311G>C	ENST00000329312.4	+	4	632	c.595G>C	c.(595-597)Gat>Cat	p.D199H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D199H(1)|p.D198H(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCACAAAAAGATAAGAAAGA	0.313																																						uc004eei.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(595-597)GAT>CAT		cylicin, basic protein of sperm head							25.0	24.0	25.0					X																	83128311		2176	4263	6439	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128311G>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.595G>C	X.37:g.83128311G>C	ENSP00000331556:p.Asp199His					CYLC1_uc004eeh.1_Missense_Mutation_p.D198H	p.D199H	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	616	+			199					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.595G>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	8.645	0.896784	0.17686	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.51574	0.7	4.47	-6.19	0.02078	.	.	.	.	.	T	0.29914	0.0748	L	0.42245	1.32	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.30966	-0.9960	9	0.62326	D	0.03	0.5973	0.8719	0.01216	0.386:0.1143:0.1506:0.3491	.	199;199	P35663;F5H4V5	CYLC1_HUMAN;.	H	199	ENSP00000331556:D199H	ENSP00000331556:D199H	D	+	1	0	CYLC1	83014967	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.773000	0.04689	-1.584000	0.01636	-1.252000	0.01501	GAT		PASS	0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		17	21	17	21	---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	96203955	96203955	+	Silent	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:96203955C>A	ENST00000324765.8	+	15	1878	c.1531C>A	c.(1531-1533)Cga>Aga	p.R511R	DIAPH2_ENST00000373061.3_Silent_p.R511R|DIAPH2_ENST00000373054.4_Silent_p.R507R|DIAPH2_ENST00000355827.4_Silent_p.R511R|DIAPH2_ENST00000373049.4_Silent_p.R511R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	511					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R511R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATTCACAGCTCGACAGGAAGC	0.348																																						uc004efu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(1531-1533)CGA>AGA		diaphanous 2 isoform 156							56.0	52.0	53.0					X																	96203955		2203	4300	6503	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96203955C>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1531C>A	X.37:g.96203955C>A						DIAPH2_uc004eft.3_Silent_p.R511R	p.R511R	NM_006729	NP_006720	O60879	DIAP2_HUMAN			15	1927	+			511			Potential.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.1531C>A	CCDS14467.1																																																																																				PASS	0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		7	25	7	25	---	---	---	---
TNMD	64102	broad.mit.edu	37	X	99854654	99854654	+	Silent	SNP	C	C	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:99854654C>G	ENST00000373031.4	+	7	1111	c.894C>G	c.(892-894)gtC>gtG	p.V298V		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	298					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V298V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAGGACGAGTCATCTGTCGTG	0.517																																						uc004efy.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(892-894)GTC>GTG		tenomodulin							102.0	62.0	75.0					X																	99854654		2203	4300	6503	SO:0001819	synonymous_variant	64102					integral to membrane		g.chrX:99854654C>G	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.894C>G	X.37:g.99854654C>G						TNMD_uc004efz.2_3'UTR	p.V298V	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN			7	1120	+			298			Extracellular (Potential).		Q9HBX0|Q9UJG0	Silent	SNP	ENST00000373031.4	37	c.894C>G	CCDS14469.1																																																																																				PASS	0.517	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		14	17	14	17	---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105865895	105865895	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:105865895T>A	ENST00000372548.4	+	2	767	c.658T>A	c.(658-660)Tcc>Acc	p.S220T	CXorf57_ENST00000372544.2_Missense_Mutation_p.S220T	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	220							poly(A) RNA binding (GO:0044822)	p.S220T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CAAAATAATTTCCCTTTCTCA	0.308																																						uc004emi.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(658-660)TCC>ACC		hypothetical protein LOC55086							68.0	62.0	64.0					X																	105865895		2201	4298	6499	SO:0001583	missense	55086							g.chrX:105865895T>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.658T>A	X.37:g.105865895T>A	ENSP00000361628:p.Ser220Thr					CXorf57_uc004emj.3_Missense_Mutation_p.S220T|CXorf57_uc004emh.2_Missense_Mutation_p.S220T	p.S220T	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			2	809	+			220					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.658T>A	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717483	0.48622	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.49432	0.79;0.78;0.81	4.46	1.86	0.25419	Nucleic acid-binding, OB-fold-like (1);	0.260506	0.38111	N	0.001816	T	0.54208	0.1844	L	0.56769	1.78	0.29226	N	0.87359	B;B;D	0.64830	0.192;0.192;0.994	B;B;P	0.61397	0.077;0.077;0.888	T	0.49862	-0.8894	10	0.41790	T	0.15	-4.4564	6.3792	0.21525	0.1582:0.0:0.1615:0.6803	.	220;220;220	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	T	220;220;28	ENSP00000361623:S220T;ENSP00000361628:S220T;ENSP00000405866:S28T	ENSP00000361623:S220T	S	+	1	0	CXorf57	105752551	0.970000	0.33590	0.998000	0.56505	0.954000	0.61252	0.953000	0.29162	0.135000	0.18707	-0.387000	0.06579	TCC		PASS	0.308	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		13	31	13	31	---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106205335	106205335	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:106205335G>T	ENST00000355610.4	-	10	1437	c.1163C>A	c.(1162-1164)aCa>aAa	p.T388K	MORC4_ENST00000255495.7_Missense_Mutation_p.T388K|MORC4_ENST00000535534.1_Missense_Mutation_p.T136K	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	388						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T211K(1)|p.T388K(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGCATTTATTGTTAGCCTGAA	0.373																																						uc004emu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1162-1164)ACA>AAA		zinc finger, CW type with coiled-coil domain 2							164.0	146.0	152.0					X																	106205335		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106205335G>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1163C>A	X.37:g.106205335G>T	ENSP00000347821:p.Thr388Lys					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.T388K|MORC4_uc004emw.3_Missense_Mutation_p.T136K	p.T388K	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			10	1406	-			388					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.1163C>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	g	19.90	3.913240	0.72983	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.33654	2.65;1.4;2.64	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.68593	2.085	0.38121	D	0.937858	P;D;D	0.59357	0.89;0.981;0.985	B;P;P	0.55303	0.419;0.69;0.773	T	0.58070	-0.7701	10	0.56958	D	0.05	-8.9907	13.1735	0.59613	0.0:0.0:1.0:0.0	.	136;388;388	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	K	388;136;388	ENSP00000347821:T388K;ENSP00000440359:T136K;ENSP00000255495:T388K	ENSP00000255495:T388K	T	-	2	0	MORC4	106091991	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.812000	0.47994	2.260000	0.74910	0.597000	0.82753	ACA		PASS	0.373	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		49	109	49	109	---	---	---	---
TMEM164	84187	broad.mit.edu	37	X	109414655	109414655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:109414655C>A	ENST00000372073.1	+	6	930	c.594C>A	c.(592-594)taC>taA	p.Y198*	TMEM164_ENST00000372072.3_Nonsense_Mutation_p.Y49*|TMEM164_ENST00000372068.2_Nonsense_Mutation_p.Y198*|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Nonsense_Mutation_p.Y159*			Q5U3C3	TM164_HUMAN	transmembrane protein 164	198						integral component of membrane (GO:0016021)		p.Y198*(1)|p.Y159*(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CAGGTGCTTACACTCCAGAGC	0.537																																						uc004eom.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|lung(1)|skin(1)	3						c.(592-594)TAC>TAA		transmembrane protein 164 isoform b							385.0	331.0	350.0					X																	109414655		2203	4300	6503	SO:0001587	stop_gained	84187					integral to membrane		g.chrX:109414655C>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.594C>A	X.37:g.109414655C>A	ENSP00000361143:p.Tyr198*					TMEM164_uc004eol.2_Nonsense_Mutation_p.Y49*|TMEM164_uc010npq.2_Nonsense_Mutation_p.Y159*	p.Y198*	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN			6	913	+			198					B3KSQ8|F5H2P2	Nonsense_Mutation	SNP	ENST00000372073.1	37	c.594C>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367024	0.82463	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	.	.	.	5.5	-1.09	0.09904	.	0.114957	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1374	10.5288	0.44965	0.0:0.5742:0.0:0.4258	.	.	.	.	X	49;198;198;159;159	.	ENSP00000288381:Y159X	Y	+	3	2	TMEM164	109301311	0.987000	0.35691	0.965000	0.40720	0.981000	0.71138	0.278000	0.18753	-0.782000	0.04541	-0.407000	0.06327	TAC		PASS	0.537	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		97	260	97	260	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109696915	109696915	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:109696915T>A	ENST00000465301.2	+	3	3316	c.3070T>A	c.(3070-3072)Tct>Act	p.S1024T	RGAG1_ENST00000540313.1_Missense_Mutation_p.S1024T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1024								p.S1024T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGCCTCTGCTTCTGGAGCAAG	0.498																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3070-3072)TCT>ACT		retrotransposon gag domain containing 1							171.0	150.0	157.0					X																	109696915		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109696915T>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3070T>A	X.37:g.109696915T>A	ENSP00000419786:p.Ser1024Thr					RGAG1_uc011msr.1_Missense_Mutation_p.S1024T	p.S1024T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	3316	+			1024					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.3070T>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524295	0.27299	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.56941	0.43;0.43	3.44	3.44	0.39384	.	0.251340	0.21157	N	0.079234	T	0.65523	0.2699	M	0.64404	1.975	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.53830	-0.8383	9	.	.	.	-8.2034	9.4364	0.38641	0.0:0.0:0.0:1.0	.	1024	Q8NET4	RGAG1_HUMAN	T	1024;1024;585	ENSP00000419786:S1024T;ENSP00000441452:S1024T	.	S	+	1	0	RGAG1	109583571	0.059000	0.20769	0.033000	0.17914	0.060000	0.15804	1.039000	0.30266	1.582000	0.49881	0.486000	0.48141	TCT		PASS	0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		68	131	68	131	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122759797	122759797	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:122759797G>A	ENST00000245838.8	-	25	3054	c.3023C>T	c.(3022-3024)aCt>aTt	p.T1008I	THOC2_ENST00000355725.4_Missense_Mutation_p.T1008I|THOC2_ENST00000491737.1_Missense_Mutation_p.T893I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1008					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.T1008I(1)|p.T929I(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAATTTGGAGTTTTCTGTTG	0.313																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3022-3024)ACT>ATT		THO complex 2							106.0	92.0	96.0					X																	122759797		1819	4070	5889	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122759797G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3023C>T	X.37:g.122759797G>A	ENSP00000245838:p.Thr1008Ile					THOC2_uc004etw.1_5'Flank	p.T1008I	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			25	3055	-			1008					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3023C>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429177	0.83776	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	.	.	.	5.82	5.82	0.92795	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.85270	0.5658	M	0.89715	3.055	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.87578	0.2482	9	0.62326	D	0.03	-12.974	19.0811	0.93182	0.0:0.0:1.0:0.0	.	1008	Q8NI27	THOC2_HUMAN	I	1008;1008;893	.	ENSP00000245838:T1008I	T	-	2	0	THOC2	122587478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.810000	0.99221	2.455000	0.83008	0.594000	0.82650	ACT		PASS	0.313	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			27	39	27	39	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130218915	130218915	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:130218915G>T	ENST00000276211.5	+	7	1177	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D266Y|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D142Y	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	278	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D278Y(1)|p.D278N(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCAAGGTCTGGATGTAGTGCT	0.488																																						uc004evz.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)	3						c.(832-834)GAT>TAT		hypothetical protein LOC158763 precursor							192.0	158.0	169.0					X																	130218915		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218915G>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.832G>T	X.37:g.130218915G>T	ENSP00000276211:p.Asp278Tyr					ARHGAP36_uc004ewa.2_Missense_Mutation_p.D266Y|ARHGAP36_uc004ewb.2_Missense_Mutation_p.D247Y|ARHGAP36_uc004ewc.2_Missense_Mutation_p.D142Y	p.D278Y	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			7	1177	+			278			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.832G>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270000	0.80469	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.16	5.16	0.70880	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.52532	D	0.000066	T	0.46678	0.1405	M	0.79011	2.435	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.46830	-0.9163	10	0.62326	D	0.03	.	12.6768	0.56899	0.0:0.0:1.0:0.0	.	247;266;278	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Y	278;266;247;142	ENSP00000276211:D278Y;ENSP00000359960:D266Y;ENSP00000408515:D247Y;ENSP00000359959:D142Y	ENSP00000276211:D278Y	D	+	1	0	ARHGAP36	130046596	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.397000	0.90193	2.388000	0.81334	0.436000	0.28706	GAT		PASS	0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		37	76	37	76	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135309466	135309466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:135309466C>A	ENST00000316077.9	-	12	2231	c.2011G>T	c.(2011-2013)Gaa>Taa	p.E671*	MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.E653*|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.E636*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	671					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.E968*(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)					TCCTGGTCTTCCTGATCCAGC	0.453																																						uc004ezt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2011-2013)GAA>TAA		MAP7 domain containing 3							205.0	185.0	191.0					X																	135309466		1965	4125	6090	SO:0001587	stop_gained	79649					cytoplasm|spindle		g.chrX:135309466C>A	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.2011G>T	X.37:g.135309466C>A	ENSP00000318086:p.Glu671*					MAP7D3_uc004ezs.2_Nonsense_Mutation_p.E635*|MAP7D3_uc011mwc.1_Nonsense_Mutation_p.E653*|MAP7D3_uc010nsa.1_Nonsense_Mutation_p.E629*	p.E671*	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			12	2102	-	Acute lymphoblastic leukemia(192;0.000127)		671					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Nonsense_Mutation	SNP	ENST00000316077.9	37	c.2011G>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	38	7.073517	0.98044	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	4.82	-0.411	0.12370	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.3692	4.929	0.13907	0.0:0.4492:0.2766:0.2742	.	.	.	.	X	636;671;653;630	.	ENSP00000318086:E671X	E	-	1	0	MAP7D3	135137132	0.001000	0.12720	0.000000	0.03702	0.275000	0.26752	0.106000	0.15354	-0.359000	0.08150	0.600000	0.82982	GAA		PASS	0.453	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			28	58	28	58	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135958790	135958790	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:135958790A>G	ENST00000320676.7	-	5	567	c.413T>C	c.(412-414)tTt>tCt	p.F138S	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000570135.1_Missense_Mutation_p.F3S|RBMX_ENST00000562646.1_Missense_Mutation_p.F138S|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_Missense_Mutation_p.F10S	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	138					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F138S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACTCATGTTAAAATTCATGGA	0.378																																						uc004fae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)TTT>TCT		RNA binding motif protein, X-linked isoform 1							85.0	86.0	86.0					X																	135958790		2202	4300	6502	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135958790A>G		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.413T>C	X.37:g.135958790A>G	ENSP00000359645:p.Phe138Ser					RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.F138S|RBMX_uc011mwg.1_Missense_Mutation_p.F99S|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Missense_Mutation_p.F99S|RBMX_uc004fag.1_Missense_Mutation_p.F10S	p.F138S	NM_002139	NP_002130	P38159	HNRPG_HUMAN			5	623	-	Acute lymphoblastic leukemia(192;0.000127)		138					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.413T>C	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	16.77	3.215027	0.58452	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.76186	-1.0	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	T	0.66386	0.2784	L	0.58669	1.825	0.38107	D	0.937449	P;B	0.41748	0.761;0.001	B;B	0.40534	0.332;0.001	T	0.72427	-0.4297	10	0.62326	D	0.03	.	2.1065	0.03692	0.5891:0.1632:0.0881:0.1597	.	138;125	P38159;Q8N8Y7	HNRPG_HUMAN;.	S	138;125	ENSP00000359645:F138S	ENSP00000359645:F138S	F	-	2	0	RBMX	135786456	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.618000	0.74214	1.814000	0.52955	0.410000	0.27636	TTT		PASS	0.378	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		36	74	36	74	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153137710	153137710	+	Silent	SNP	G	G	T			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chrX:153137710G>T	ENST00000370060.1	-	5	486	c.297C>A	c.(295-297)ggC>ggA	p.G99G	L1CAM_ENST00000370055.1_Silent_p.G94G|L1CAM_ENST00000370057.3_Silent_p.G99G|L1CAM_ENST00000361981.3_Silent_p.G94G|L1CAM_ENST00000543994.1_Silent_p.G101G|L1CAM_ENST00000361699.4_Silent_p.G99G|L1CAM_ENST00000538883.1_Silent_p.G101G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	99	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.G99G(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTTGTTGCCCGTGATGG	0.592																																						uc004fjb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(295-297)GGC>GGA		L1 cell adhesion molecule isoform 1 precursor							129.0	100.0	110.0					X																	153137710		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137710G>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.297C>A	X.37:g.153137710G>T						L1CAM_uc004fjc.2_Silent_p.G99G|L1CAM_uc010nuo.2_Silent_p.G94G|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.G94G	p.G99G	NM_000425	NP_000416	P32004	L1CAM_HUMAN			4	405	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		99			Extracellular (Potential).|Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.297C>A	CCDS14733.1																																																																																				PASS	0.592	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		25	36	25	36	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33590512	33590512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr2:33590512delC	ENST00000404816.2	+	31	5006	c.4653delC	c.(4651-4653)tgcfs	p.C1552fs	LTBP1_ENST00000390003.4_Frame_Shift_Del_p.C1227fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.C1184fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.C1553fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.C1173fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.C1171fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.C1226fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.C450fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1552	TB 4.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGAGTGCTGCTGTCTGTATG	0.537																																						uc002ros.2																			0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4654-4656)TGCfs		latent transforming growth factor beta binding							124.0	116.0	119.0					2																	33590512		2203	4300	6503	SO:0001589	frameshift_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33590512delC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4653delC	2.37:g.33590512delC	ENSP00000386043:p.Cys1552fs					LTBP1_uc002rot.2_Frame_Shift_Del_p.C1226fs|LTBP1_uc002rou.2_Frame_Shift_Del_p.C1225fs|LTBP1_uc002rov.2_Frame_Shift_Del_p.C1172fs|LTBP1_uc010ymz.1_Frame_Shift_Del_p.C1183fs|LTBP1_uc010yna.1_Frame_Shift_Del_p.C1130fs|LTBP1_uc010ynb.1_Frame_Shift_Del_p.C449fs	p.C1552fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			31	4656	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1551			TB 4.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Frame_Shift_Del	DEL	ENST00000404816.2	37	c.4656delC	CCDS33177.2																																																																																					0.537	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		53	30	53	30	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181591	57181591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr4:57181591delC	ENST00000504228.1	+	6	2028	c.1923delC	c.(1921-1923)ggcfs	p.G641fs	KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.G634fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.G641fs			Q6ZU35	K1211_HUMAN	KIAA1211	641										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCCCGAGGCCCCGGCGACG	0.672																																						uc003hbk.2																			0				ovary(1)|skin(1)	2						c.(1921-1923)GGCfs		hypothetical protein LOC57482							12.0	16.0	15.0					4																	57181591		1854	4041	5895	SO:0001589	frameshift_variant	57482							g.chr4:57181591delC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1923delC	4.37:g.57181591delC	ENSP00000423366:p.Gly641fs					KIAA1211_uc010iha.2_Frame_Shift_Del_p.G634fs|KIAA1211_uc011bzz.1_Frame_Shift_Del_p.G551fs|KIAA1211_uc003hbm.1_Frame_Shift_Del_p.G527fs	p.G641fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2314	+	Glioma(25;0.08)|all_neural(26;0.101)		641					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	ENST00000504228.1	37	c.1923delC	CCDS43230.1																																																																																					0.672	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		10	17	10	17	---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72957311	72957313	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr15:72957311_72957313delGAG	ENST00000421285.3	+	14	1528_1530	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	513						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGGACAGTGAGGAGGAGGAGG	0.635																																						uc010uks.1																			0					0						c.(1528-1530)GAGdel		golgi autoantigen, golgin subfamily a, 6B				15,2317		3,9,1154						-0.8	0.0			8	86,2952		19,48,1452	no	coding	GOLGA6B	NM_018652.4		22,57,2606	A1A1,A1R,RR		2.8308,0.6432,1.8808				101,5269				SO:0001651	inframe_deletion	55889							g.chr15:72957311_72957313delGAG		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1528_1530delGAG	15.37:g.72957320_72957322delGAG	ENSP00000408132:p.Glu513del					uc002aux.1_5'Flank|uc002auy.1_5'Flank	p.E513del	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			14	1569_1571	+			513			Potential.		A8MYY7	In_Frame_Del	DEL	ENST00000421285.3	37	c.1528_1530delGAG	CCDS10245.2																																																																																					0.635	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		4	2	4	2	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578443	7578444	+	In_Frame_Ins	INS	-	-	GAT			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr17:7578443_7578444insGAT	ENST00000269305.4	-	5	675_676	c.486_487insATC	c.(484-489)atctac>atcATCtac	p.162_163insI	TP53_ENST00000420246.2_In_Frame_Ins_p.162_163insI|TP53_ENST00000359597.4_In_Frame_Ins_p.162_163insI|TP53_ENST00000455263.2_In_Frame_Ins_p.162_163insI|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_In_Frame_Ins_p.162_163insI|TP53_ENST00000413465.2_In_Frame_Ins_p.162_163insI	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	162	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 -> M (in sporadic cancers; somatic mutation).|I -> N (in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.V157_I162delVRAMAI(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATGG	0.624		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		81	Substitution - Missense(49)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)	p.Y163N(17)|p.Y163H(17)|p.I162F(8)|p.0?(7)|p.I162V(5)|p.I162I(4)|p.I162S(4)|p.I162N(3)|p.I162M(3)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.Y163D(2)|p.I162fs*19(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I162_Y163delIY(1)|p.I162fs*8(1)|p.A161fs*7(1)|p.V157_I162delVRAMAI(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)	breast(16)|lung(12)|liver(8)|haematopoietic_and_lymphoid_tissue(7)|skin(6)|large_intestine(5)|ovary(5)|stomach(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(484-489)insATC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001652	inframe_insertion	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.chr17:7578443_7578444insGAT	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.484_486dupATC	17.37:g.7578444_7578446dupGAT	ENSP00000269305:p.Ile162_Ile162dup	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_In_Frame_Ins_p.162_163insI|TP53_uc002gih.2_In_Frame_Ins_p.162_163insI|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Ins_p.30_31insI|TP53_uc010cng.1_In_Frame_Ins_p.30_31insI|TP53_uc002gii.1_In_Frame_Ins_p.30_31insI|TP53_uc010cnh.1_In_Frame_Ins_p.162_163insI|TP53_uc010cni.1_In_Frame_Ins_p.162_163insI|TP53_uc002gij.2_In_Frame_Ins_p.162_163insI|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Ins_p.69_70insI|TP53_uc002gio.2_In_Frame_Ins_p.30_31insI|TP53_uc010vug.1_In_Frame_Ins_p.123_124insI	p.162_163insI	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	680_681	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	162_163		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	ENST00000269305.4	37	c.486_487insATC	CCDS11118.1																																																																																					0.624	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	29	26	29	---	---	---	---
OR7A10	390892	broad.mit.edu	37	19	14951778	14951778	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-5485-01A-01D-1632-08	TCGA-22-5485-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	448af8b4-e071-48b0-a65b-b4ad17afdc0c	95779034-450c-4511-91a7-40bacf8e2f78	g.chr19:14951778delG	ENST00000248058.1	-	1	911	c.912delC	c.(910-912)ttcfs	p.F305fs		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TTCCTCTGAAGAATGTTTTCA	0.443																																						uc002mzx.1																			0					0						c.(910-912)TTCfs		olfactory receptor, family 7, subfamily A,							78.0	77.0	77.0					19																	14951778		2203	4300	6503	SO:0001589	frameshift_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14951778delG		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.912delC	19.37:g.14951778delG	ENSP00000248058:p.Phe305fs						p.F304fs	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	912	-	Ovarian(108;0.203)		304			Cytoplasmic (Potential).		Q6IFP0|Q96R97	Frame_Shift_Del	DEL	ENST00000248058.1	37	c.912delC	CCDS32936.1																																																																																					0.443	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		18	34	18	34	---	---	---	---
