#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
RERE	473	broad.mit.edu	37	1	8416169	8416169	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:8416169G>T	ENST00000337907.3	-	22	5111	c.4477C>A	c.(4477-4479)Cca>Aca	p.P1493T	RERE_ENST00000476556.1_Missense_Mutation_p.P939T|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1493T|RERE_ENST00000377464.1_Missense_Mutation_p.P1225T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1493	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P1493T(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCGAAAACTGGGTGGCGAAGC	0.617																																						uc001ape.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4477-4479)CCA>ACA		atrophin-1 like protein isoform a							116.0	134.0	128.0					1																	8416169		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8416169G>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4477C>A	1.37:g.8416169G>T	ENSP00000338629:p.Pro1493Thr					RERE_uc001apf.2_Missense_Mutation_p.P1493T|RERE_uc001apd.2_Missense_Mutation_p.P939T	p.P1493T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	22	5287	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1493			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4477C>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728609	0.89390	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T	0.49720	0.77;0.78;0.77	6.08	6.08	0.98989	.	.	.	.	.	T	0.68760	0.3036	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.67795	-0.5578	9	0.62326	D	0.03	-11.7952	19.6516	0.95815	0.0:0.0:1.0:0.0	.	1493	Q9P2R6	RERE_HUMAN	T	1493;1225;939;1493;149	ENSP00000338629:P1493T;ENSP00000366684:P1225T;ENSP00000383700:P1493T	ENSP00000338629:P1493T	P	-	1	0	RERE	8338756	1.000000	0.71417	0.881000	0.34555	0.764000	0.43329	9.807000	0.99171	2.894000	0.99253	0.655000	0.94253	CCA		PASS	0.617	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			6	85	6	85	---	---	---	---
PRAMEF12	390999	broad.mit.edu	37	1	12835767	12835767	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:12835767C>A	ENST00000357726.4	+	2	396	c.369C>A	c.(367-369)tcC>tcA	p.S123S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	123					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.S123S(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACTCTCCCCAGAGGCCC	0.537																																						uc001aui.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(367-369)TCC>TCA		PRAME family member 12							121.0	137.0	132.0					1																	12835767		2152	4282	6434	SO:0001819	synonymous_variant	390999							g.chr1:12835767C>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.369C>A	1.37:g.12835767C>A							p.S123S	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	396	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	123						Silent	SNP	ENST00000357726.4	37	c.369C>A	CCDS41254.1																																																																																				PASS	0.537	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		6	109	6	109	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46511683	46511683	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:46511683C>A	ENST00000262741.5	-	9	1783	c.1094G>T	c.(1093-1095)cGa>cTa	p.R365L	PIK3R3_ENST00000340332.6_Missense_Mutation_p.R270L|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R365L|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R306L|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R306L|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R365L|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R411L|RP4-533D7.4_ENST00000450004.1_RNA	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	365	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.R365L(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGCTTGTACTCGATTGATATC	0.373																																						uc001cpb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)CGA>CTA		phosphoinositide-3-kinase, regulatory subunit 3							154.0	146.0	148.0					1																	46511683		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46511683C>A	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1094G>T	1.37:g.46511683C>A	ENSP00000262741:p.Arg365Leu					PIK3R3_uc009vyb.2_Missense_Mutation_p.R306L|PIK3R3_uc009vyc.2_Missense_Mutation_p.R382L|PIK3R3_uc001cpc.3_Missense_Mutation_p.R365L|PIK3R3_uc010olw.1_Missense_Mutation_p.R411L|PIK3R3_uc010olv.1_Missense_Mutation_p.R155L	p.R365L	NM_003629	NP_003620	Q92569	P55G_HUMAN			9	1850	-	Acute lymphoblastic leukemia(166;0.155)		365			SH2 2.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.1094G>T	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580078	0.96565	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	6.08	6.08	0.98989	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.972	D;D;D;P	0.87578	0.996;0.998;0.996;0.87	D	0.98283	1.0509	10	0.87932	D	0	-9.166	20.6634	0.99662	0.0:1.0:0.0:0.0	.	411;398;306;365	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	L	365;365;365;306;270;411;306	ENSP00000361075:R365L;ENSP00000262741:R365L;ENSP00000412546:R365L;ENSP00000346188:R306L;ENSP00000342484:R270L;ENSP00000439913:R411L;ENSP00000391431:R306L	ENSP00000262741:R365L	R	-	2	0	PIK3R3	46284270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CGA		PASS	0.373	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		4	81	4	81	---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48701497	48701497	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:48701497T>C	ENST00000438567.2	+	10	1290	c.1238T>C	c.(1237-1239)gTg>gCg	p.V413A	SLC5A9_ENST00000236495.5_Missense_Mutation_p.V438A|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V434A	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	413					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V431A(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ACCATTGATGTGTGGCAGCGC	0.617																																						uc001cro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1237-1239)GTG>GCG		solute carrier family 5 (sodium/glucose							120.0	93.0	102.0					1																	48701497		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48701497T>C	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1238T>C	1.37:g.48701497T>C	ENSP00000401730:p.Val413Ala					SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.V438A|SLC5A9_uc010omt.1_Missense_Mutation_p.V427A|SLC5A9_uc001crp.2_Missense_Mutation_p.V80A|SLC5A9_uc010omu.1_Missense_Mutation_p.V80A	p.V413A	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			10	1290	+			413			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1238T>C	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552064	0.65311	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.88975	-2.45;-2.45;-2.45	5.46	5.46	0.80206	.	0.393472	0.27725	N	0.018103	D	0.90424	0.7002	M	0.75085	2.285	0.80722	D	1	B;B;B	0.34255	0.44;0.445;0.445	B;B;B	0.40982	0.345;0.217;0.314	D	0.90963	0.4814	10	0.87932	D	0	.	14.7008	0.69154	0.0:0.0:0.0:1.0	.	434;413;438	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	A	434;413;438	ENSP00000431900:V434A;ENSP00000401730:V413A;ENSP00000236495:V438A	ENSP00000236495:V438A	V	+	2	0	SLC5A9	48474084	1.000000	0.71417	0.321000	0.25320	0.586000	0.36452	8.040000	0.89188	2.069000	0.61940	0.533000	0.62120	GTG		PASS	0.617	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		15	34	15	34	---	---	---	---
PRPF38A	84950	broad.mit.edu	37	1	52870481	52870481	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:52870481G>T	ENST00000257181.9	+	1	246	c.60G>T	c.(58-60)ctG>ctT	p.L20L	ORC1_ENST00000371566.1_5'Flank|ORC1_ENST00000371568.3_5'Flank|PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	20					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.L20L(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						CTCAATATCTGGTGGAGAAGA	0.483											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ctv.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CTG>CTT		PRP38 pre-mRNA processing factor 38 (yeast)							111.0	102.0	105.0					1																	52870481		2203	4300	6503	SO:0001819	synonymous_variant	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52870481G>T	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.60G>T	1.37:g.52870481G>T			OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	ORC1L_uc001ctt.2_5'Flank|ORC1L_uc010oni.1_5'Flank|ORC1L_uc001ctu.2_5'Flank|ORC1L_uc009vzd.2_5'Flank|PRPF38A_uc001ctw.3_5'UTR	p.L20L	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN			1	263	+			20					Q96JW1|Q9BVZ8	Silent	SNP	ENST00000257181.9	37	c.60G>T	CCDS567.1																																																																																				PASS	0.483	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		7	115	7	115	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55572963	55572963	+	Missense_Mutation	SNP	G	G	A	rs201975935		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:55572963G>A	ENST00000294383.6	-	40	4710	c.4711C>T	c.(4711-4713)Cgc>Tgc	p.R1571C	USP24_ENST00000407756.1_Missense_Mutation_p.R1411C	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1571					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R1571C(1)|p.R1488C(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTGATGAGGCGTAAGTGCCCT	0.453																																						uc001cyg.3																			2	Substitution - Missense(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(4231-4233)CGC>TGC		ubiquitin specific protease 24							134.0	134.0	134.0					1																	55572963		2010	4170	6180	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55572963G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4711C>T	1.37:g.55572963G>A	ENSP00000294383:p.Arg1571Cys						p.R1411C	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			37	4231	-			1571					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4231C>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682826	0.47991	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67523	-0.27;-0.27	5.92	2.71	0.32032	.	0.050944	0.85682	D	0.000000	T	0.72228	0.3434	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.68808	-0.5311	10	0.35671	T	0.21	.	10.5766	0.45231	0.0725:0.0:0.6032:0.3243	.	1411	B7WPF4	.	C	1571;1411	ENSP00000294383:R1571C;ENSP00000385700:R1411C	ENSP00000294383:R1571C	R	-	1	0	USP24	55345551	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.264000	0.51553	0.819000	0.34492	0.655000	0.94253	CGC		PASS	0.453	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			19	46	19	46	---	---	---	---
GBP2	2634	broad.mit.edu	37	1	89579960	89579960	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:89579960C>T	ENST00000370466.3	-	7	1156	c.888G>A	c.(886-888)ctG>ctA	p.L296L	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	296	GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L296L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGACGTAGGTCAGCACCAGGC	0.483																																						uc001dmz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(886-888)CTG>CTA		guanylate binding protein 2,							60.0	53.0	56.0					1																	89579960		2203	4300	6503	SO:0001819	synonymous_variant	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89579960C>T	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.888G>A	1.37:g.89579960C>T						GBP2_uc001dmy.1_RNA	p.L296L	NM_004120	NP_004111	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	7	1159	-		Lung NSC(277;0.0908)	296					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.888G>A	CCDS719.1																																																																																				PASS	0.483	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		8	48	8	48	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92733508	92733508	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:92733508G>T	ENST00000370360.3	-	11	1141	c.1060C>A	c.(1060-1062)Cag>Aag	p.Q354K	GLMN_ENST00000534881.1_Missense_Mutation_p.Q354K	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	354					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.Q354K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTAAGTACTGGTAAAGTAGA	0.313									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1060-1062)CAG>AAG		glomulin							70.0	82.0	78.0					1																	92733508		2197	4287	6484	SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92733508G>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1060C>A	1.37:g.92733508G>T	ENSP00000359385:p.Gln354Lys					GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.Q354K	p.Q354K	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	11	1175	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	354					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.1060C>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628025	0.46944	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.40476	1.03;1.04	5.5	5.5	0.81552	.	0.384147	0.31415	N	0.007688	T	0.23688	0.0573	L	0.44542	1.39	0.36679	D	0.878953	P;B	0.35527	0.507;0.27	B;B	0.33960	0.173;0.089	T	0.10474	-1.0628	10	0.45353	T	0.12	0.1263	14.3839	0.66929	0.0:0.1475:0.8525:0.0	.	354;354	B4DJ85;Q92990	.;GLMN_HUMAN	K	354	ENSP00000359385:Q354K;ENSP00000440156:Q354K	ENSP00000359385:Q354K	Q	-	1	0	GLMN	92506096	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.601000	0.61090	2.748000	0.94277	0.655000	0.94253	CAG		PASS	0.313	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		5	68	5	68	---	---	---	---
SORT1	6272	broad.mit.edu	37	1	109883449	109883449	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:109883449G>A	ENST00000256637.6	-	10	1219	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	SORT1_ENST00000538502.1_Silent_p.S250S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	387					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.S387S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CCAAAGACTTGGAATAGACAA	0.483																																						uc001dxm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1159-1161)TCC>TCT		sortilin 1 preproprotein							156.0	127.0	137.0					1																	109883449		2203	4300	6503	SO:0001819	synonymous_variant	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109883449G>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1161C>T	1.37:g.109883449G>A						SORT1_uc010ovi.1_Silent_p.S250S	p.S387S	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	10	1210	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	387			BNR 6.|Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	c.1161C>T	CCDS798.1																																																																																				PASS	0.483	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		8	42	8	42	---	---	---	---
ATXN7L2	127002	broad.mit.edu	37	1	110033990	110033990	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:110033990C>T	ENST00000369870.3	+	10	1820	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	CYB561D1_ENST00000528785.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000430195.2_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	602								p.S602L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGGGGCCTCTCGGCCAAAACT	0.587																																						uc001dxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1804-1806)TCG>TTG		ataxin 7-like 2							54.0	60.0	58.0					1																	110033990		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110033990C>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1805C>T	1.37:g.110033990C>T	ENSP00000358886:p.Ser602Leu					ATXN7L2_uc001dxs.2_Missense_Mutation_p.S229L|ATXN7L2_uc001dxt.2_Missense_Mutation_p.S105L|CYB561D1_uc010ovl.1_5'Flank|CYB561D1_uc010ovm.1_5'Flank|CYB561D1_uc001dxu.2_5'Flank|CYB561D1_uc001dxw.2_5'Flank|CYB561D1_uc010ovn.1_5'Flank|CYB561D1_uc010ovo.1_5'Flank|CYB561D1_uc009wfd.2_5'Flank|CYB561D1_uc010ovp.1_5'Flank	p.S602L	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1820	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	602						Missense_Mutation	SNP	ENST00000369870.3	37	c.1805C>T	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010054	0.35415	.	.	ENSG00000162650	ENST00000369870;ENST00000369869	T	0.37058	1.22	4.97	4.06	0.47325	.	0.704769	0.12358	N	0.475893	T	0.08626	0.0214	N	0.14661	0.345	0.26703	N	0.971137	P;B	0.35774	0.519;0.002	B;B	0.24974	0.057;0.001	T	0.12066	-1.0562	10	0.72032	D	0.01	-3.8689	10.6281	0.45519	0.0:0.9099:0.0:0.0901	.	229;602	Q5T6C4;Q5T6C5	.;AT7L2_HUMAN	L	602;229	ENSP00000358886:S602L	ENSP00000358885:S229L	S	+	2	0	ATXN7L2	109835513	0.994000	0.37717	0.810000	0.32431	0.869000	0.49853	4.379000	0.59575	1.315000	0.45114	0.462000	0.41574	TCG		PASS	0.587	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		10	45	10	45	---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111216270	111216270	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:111216270C>G	ENST00000369769.2	-	1	1385	c.1162G>C	c.(1162-1164)Ggg>Cgg	p.G388R		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	388					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.G388R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGCGTTTGCCCGAGGATCTGC	0.587																																						uc001dzv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1162-1164)GGG>CGG		potassium voltage-gated channel, shaker-related							86.0	86.0	86.0					1																	111216270		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216270C>G	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1162G>C	1.37:g.111216270C>G	ENSP00000358784:p.Gly388Arg						p.G388R	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1386	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	388					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1162G>C	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064986	0.76187	.	.	ENSG00000177272	ENST00000369769	D	0.98701	-5.08	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99290	0.9752	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99593	1.0976	10	0.87932	D	0	.	19.8489	0.96731	0.0:1.0:0.0:0.0	.	388	P22001	KCNA3_HUMAN	R	388	ENSP00000358784:G388R	ENSP00000358784:G388R	G	-	1	0	KCNA3	111017793	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.814000	0.86154	2.689000	0.91719	0.655000	0.94253	GGG		PASS	0.587	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		13	71	13	71	---	---	---	---
PIFO	128344	broad.mit.edu	37	1	111891246	111891246	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:111891246C>A	ENST00000369738.4	+	4	732	c.367C>A	c.(367-369)Cca>Aca	p.P123T	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.P90T	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	123					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)	p.P123T(1)									TAAGAACTACCCAAAGGACAC	0.403																																						uc001eaw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(367-369)CCA>ACA		hypothetical protein LOC128344							305.0	331.0	322.0					1																	111891246		2203	4300	6503	SO:0001583	missense	128344							g.chr1:111891246C>A	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.367C>A	1.37:g.111891246C>A	ENSP00000358753:p.Pro123Thr					C1orf88_uc001eax.2_Missense_Mutation_p.P90T|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.P36T	p.P123T	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	447	+		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	123					D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	c.367C>A	CCDS833.1	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881358	0.02530	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.27720	2.01;1.65	4.36	-1.75	0.08031	.	2.276300	0.01919	N	0.040366	T	0.02767	0.0083	N	0.03608	-0.345	0.09310	N	1	B;B	0.14012	0.0;0.009	B;B	0.13407	0.0;0.009	T	0.20306	-1.0279	10	0.12430	T	0.62	0.1279	0.4768	0.00541	0.1722:0.2178:0.1916:0.4184	.	90;123	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	T	123;90	ENSP00000358753:P123T;ENSP00000358752:P90T	ENSP00000358752:P90T	P	+	1	0	C1orf88	111692769	0.003000	0.15002	0.095000	0.20976	0.138000	0.21146	0.665000	0.25083	-0.010000	0.14271	-0.718000	0.03613	CCA		PASS	0.403	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		9	255	9	255	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562806	145562806	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:145562806C>A	ENST00000355594.4	+	10	2581	c.2494C>A	c.(2494-2496)Cta>Ata	p.L832I		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	832								p.L832I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCAGCCAGCCTACGGCAACA	0.602																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2494-2496)CTA>ATA		ankyrin repeat domain 35							14.0	18.0	17.0					1																	145562806		2200	4296	6496	SO:0001583	missense	148741							g.chr1:145562806C>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2494C>A	1.37:g.145562806C>A	ENSP00000347802:p.Leu832Ile					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.L675I	p.L832I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2602	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		832					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.2494C>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922542	0.52653	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.54279	0.58	5.5	0.35	0.16037	.	0.334872	0.21706	N	0.070358	T	0.31104	0.0786	M	0.72118	2.19	0.80722	D	1	P	0.41393	0.748	B	0.41236	0.351	T	0.12218	-1.0556	10	0.59425	D	0.04	-8.9581	3.5624	0.07887	0.2987:0.4584:0.0:0.2429	.	832	Q8N283	ANR35_HUMAN	I	741;832	ENSP00000347802:L832I	ENSP00000347802:L832I	L	+	1	2	ANKRD35	144274163	1.000000	0.71417	0.990000	0.47175	0.812000	0.45895	0.770000	0.26618	-0.073000	0.12842	-0.136000	0.14681	CTA		PASS	0.602	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		4	8	4	8	---	---	---	---
PLEKHO1	51177	broad.mit.edu	37	1	150131510	150131510	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:150131510G>C	ENST00000369124.4	+	6	1300	c.1022G>C	c.(1021-1023)cGg>cCg	p.R341P	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R307P|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R158P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	341	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R341P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCCCCTCGGTCTCCGCCG	0.602																																						uc001ett.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1021-1023)CGG>CCG		pleckstrin homology domain containing, family O							50.0	55.0	53.0					1																	150131510		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131510G>C	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1022G>C	1.37:g.150131510G>C	ENSP00000358120:p.Arg341Pro					PLEKHO1_uc001etr.2_Missense_Mutation_p.R169P|PLEKHO1_uc001ets.2_Missense_Mutation_p.R158P|PLEKHO1_uc001etu.2_Missense_Mutation_p.R169P	p.R341P	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1300	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		341			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.1022G>C	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345371	0.24426	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.44881	0.91;0.91	5.14	-0.16	0.13375	.	1.334780	0.04874	N	0.446350	T	0.08268	0.0206	N	0.14661	0.345	0.09310	N	1	B	0.22851	0.076	B	0.23150	0.044	T	0.22173	-1.0224	10	0.30854	T	0.27	-4.1754	2.8882	0.05668	0.2483:0.1221:0.5168:0.1128	.	341	Q53GL0	PKHO1_HUMAN	P	158;307;341;221	ENSP00000025469:R307P;ENSP00000358120:R341P	ENSP00000025469:R307P	R	+	2	0	PLEKHO1	148398134	0.113000	0.22115	0.237000	0.24090	0.711000	0.40976	-0.236000	0.09003	-0.176000	0.10707	-0.140000	0.14226	CGG		PASS	0.602	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		6	28	6	28	---	---	---	---
GOLPH3L	55204	broad.mit.edu	37	1	150634405	150634405	+	Splice_Site	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:150634405C>A	ENST00000271732.3	-	4	360		c.e4-1		GOLPH3L_ENST00000540514.1_Splice_Site	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like						Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)	p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|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;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTAGCAGTACCTTTGAGAAAA	0.368																																						uc001evj.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e4-1		Golgi phosphoprotein 3-like							124.0	119.0	121.0					1																	150634405		2203	4300	6503	SO:0001630	splice_region_variant	55204					Golgi cisterna membrane		g.chr1:150634405C>A	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.316-1G>T	1.37:g.150634405C>A						GOLPH3L_uc010pci.1_Splice_Site_p.V62_splice	p.V106_splice	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	533	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|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)							B1AN09|B7Z6N3|Q9NVK0	Splice_Site	SNP	ENST00000271732.3	37	c.316_splice	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671556	0.29693	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.4	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8255	0.57716	0.0:0.9217:0.0:0.0783	.	.	.	.	.	-1	.	.	.	-	.	.	GOLPH3L	148901029	1.000000	0.71417	0.996000	0.52242	0.024000	0.10985	7.083000	0.76859	1.531000	0.49152	0.650000	0.86243	.		PASS	0.368	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178	Intron	5	60	5	60	---	---	---	---
PSMB4	5692	broad.mit.edu	37	1	151372089	151372089	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:151372089C>T	ENST00000290541.6	+	1	80	c.26C>T	c.(25-27)tCc>tTc	p.S9F		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)	p.S9F(1)		endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTCGCGGTCCGGACTTTGG	0.552																																						uc001eyc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(25-27)TCC>TTC		proteasome beta 4 subunit							55.0	61.0	59.0					1																	151372089		2202	4300	6502	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372089C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.26C>T	1.37:g.151372089C>T	ENSP00000290541:p.Ser9Phe					PSMB4_uc010pda.1_Missense_Mutation_p.S9F|PSMB4_uc001eyb.1_Missense_Mutation_p.S9F	p.S9F	NM_002796	NP_002787	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		1	49	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		9					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.26C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690534	0.29962	.	.	ENSG00000159377	ENST00000290541	T	0.53206	0.63	5.83	-4.29	0.03721	.	1.230560	0.05173	N	0.499814	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.22746	0.074;0.01	B;B	0.19946	0.027;0.007	T	0.16012	-1.0417	10	0.09843	T	0.71	2.5014	9.2214	0.37379	0.0:0.2303:0.5545:0.2152	.	9;9	B4DFL3;P28070	.;PSB4_HUMAN	F	9	ENSP00000290541:S9F	ENSP00000290541:S9F	S	+	2	0	PSMB4	149638713	0.000000	0.05858	0.000000	0.03702	0.513000	0.34164	-0.602000	0.05680	-0.413000	0.07507	0.561000	0.74099	TCC		PASS	0.552	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		12	67	12	67	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276145	152276145	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:152276145G>A	ENST00000368799.1	-	3	11252	c.11217C>T	c.(11215-11217)caC>caT	p.H3739H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3739	Ser-rich.		H -> Y (in dbSNP:rs7512553).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H3739H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTCGTGGCGGGATC	0.602									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11215-11217)CAC>CAT		filaggrin							237.0	238.0	238.0					1																	152276145		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276145G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11217C>T	1.37:g.152276145G>A							p.H3739H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11253	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3739			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11217C>T	CCDS30860.1																																																																																				PASS	0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		87	127	87	127	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152326835	152326835	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:152326835G>C	ENST00000388718.5	-	3	3499	c.3427C>G	c.(3427-3429)Cag>Gag	p.Q1143E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1143	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q1143E(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACTCATGCTGTGCAAAGCCA	0.527																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3427-3429)CAG>GAG		filaggrin family member 2							202.0	188.0	193.0					1																	152326835		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326835G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3427C>G	1.37:g.152326835G>C	ENSP00000373370:p.Gln1143Glu					uc001ezv.2_Intron	p.Q1143E	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3500	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1143			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3427C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.515943	0.00975	.	.	ENSG00000143520	ENST00000388718	T	0.04917	3.53	2.86	1.91	0.25777	.	.	.	.	.	T	0.00906	0.0030	N	0.19112	0.55	0.09310	N	1	B	0.24618	0.107	B	0.19666	0.026	T	0.47129	-0.9141	9	0.02654	T	1	0.1735	7.6678	0.28441	0.0:0.2614:0.7386:0.0	.	1143	Q5D862	FILA2_HUMAN	E	1143	ENSP00000373370:Q1143E	ENSP00000373370:Q1143E	Q	-	1	0	FLG2	150593459	0.043000	0.20138	0.001000	0.08648	0.080000	0.17528	2.144000	0.42197	0.386000	0.24997	0.306000	0.20318	CAG		PASS	0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		23	147	23	147	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156503909	156503909	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:156503909C>T	ENST00000361170.2	-	30	3775	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1255					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.Q1255Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCTGGCACCTGGCAGGCTC	0.592																																						uc001fpf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(3763-3765)CAG>CAA		IQ motif containing GTPase activating protein 3							104.0	97.0	100.0					1																	156503909		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156503909C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3765G>A	1.37:g.156503909C>T							p.Q1255Q	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			30	3840	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1255					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.3765G>A	CCDS1144.1																																																																																				PASS	0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		7	52	7	52	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157771327	157771327	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:157771327G>T	ENST00000368176.3	-	6	994	c.927C>A	c.(925-927)gtC>gtA	p.V309V	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Silent_p.V309V|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V309V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCCCTCAATGACTCCTGAGG	0.507																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)	7						c.(925-927)GTC>GTA		Fc receptor-like 1 isoform 1 precursor							76.0	78.0	77.0					1																	157771327		2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771327G>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.927C>A	1.37:g.157771327G>T						FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.V309V|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA	p.V309V	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1040	-	all_hematologic(112;0.0378)		309			Helical; (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.927C>A	CCDS1170.1																																																																																				PASS	0.507	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		17	37	17	37	---	---	---	---
OR10J1	26476	broad.mit.edu	37	1	159409868	159409868	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:159409868G>T	ENST00000423932.3	+	1	357	c.320G>T	c.(319-321)gGg>gTg	p.G107V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	107					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G107E(1)|p.G107V(1)|p.G263E(1)|p.G263V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCATTGGCAGGGTGTGCCACA	0.493																																						uc010piv.1																			4	Substitution - Missense(4)		lung(2)|skin(2)	ovary(1)	1						c.(319-321)GGG>GTG		olfactory receptor, family 10, subfamily J,							101.0	83.0	89.0					1																	159409868		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409868G>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.320G>T	1.37:g.159409868G>T	ENSP00000399078:p.Gly107Val					uc001fts.3_Intron	p.G107V	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	320	+	all_hematologic(112;0.0429)		107			Extracellular (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.320G>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170261	0.38315	.	.	ENSG00000196184	ENST00000423932	T	0.09817	2.94	4.48	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.175611	0.27371	N	0.019677	T	0.14787	0.0357	M	0.85710	2.77	0.20074	N	0.999936	D	0.57571	0.98	P	0.58130	0.833	T	0.03374	-1.1043	10	0.87932	D	0	.	8.8142	0.34985	0.0:0.3064:0.5356:0.158	.	107	P30954	O10J1_HUMAN	V	107	ENSP00000399078:G107V	ENSP00000399078:G107V	G	+	2	0	OR10J1	157676492	0.015000	0.18098	0.005000	0.12908	0.730000	0.41778	0.223000	0.17719	0.174000	0.19809	0.655000	0.94253	GGG		PASS	0.493	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		5	34	5	34	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161518412	161518412	+	Nonsense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:161518412T>A	ENST00000436743.1	-	4	272	c.118A>T	c.(118-120)Aag>Tag	p.K40*	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Nonsense_Mutation_p.K76*|FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.K75*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.K40*	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	40	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K76*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACACTGTCCTTCTCGAGCACC	0.552																																						uc001gat.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(118-120)AAG>TAG		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						172.0	162.0	166.0					1																	161518412		2203	4300	6503	SO:0001587	stop_gained	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518412T>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.118A>T	1.37:g.161518412T>A	ENSP00000416607:p.Lys40*					FCGR3A_uc001gar.2_Nonsense_Mutation_p.K76*|FCGR3A_uc001gas.2_Nonsense_Mutation_p.K75*|FCGR3A_uc009wuh.2_Nonsense_Mutation_p.K39*|FCGR3A_uc009wui.2_Nonsense_Mutation_p.K40*	p.K40*	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	255	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		40			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Nonsense_Mutation	SNP	ENST00000436743.1	37	c.118A>T	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.53|10.53	1.375357|1.375357	0.24857|0.24857	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336|ENST00000426740	.|.	.|.	.|.	4.43|4.43	-8.84|-8.84	0.00803|0.00803	.|.	4.500810|.	0.00649|.	N|.	0.000545|.	.|T	.|0.05364	.|0.0142	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.20571	.|-1.0271	.|3	0.27082|.	T|.	0.32|.	.|.	4.1147|4.1147	0.10076|0.10076	0.1019:0.262:0.1013:0.5347|0.1019:0.262:0.1013:0.5347	.|.	.|.	.|.	.|.	X|S	76;75;40;40;40;39|56	.|.	ENSP00000356944:K40X|.	K|R	-|-	1|3	0|2	FCGR3A|FCGR3A	159785036|159785036	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-3.171000|-3.171000	0.00573|0.00573	-1.849000|-1.849000	0.01171|0.01171	-1.146000|-1.146000	0.01853|0.01853	AAG|AGA		PASS	0.552	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		17	66	17	66	---	---	---	---
BLZF1	8548	broad.mit.edu	37	1	169356240	169356240	+	Silent	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:169356240A>G	ENST00000367808.3	+	7	1446	c.1023A>G	c.(1021-1023)ctA>ctG	p.L341L	BLZF1_ENST00000329281.2_Silent_p.L341L			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	341					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.L341L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CTTAGGTTCTAAGAATTTTAG	0.328																																						uc001gfx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1021-1023)CTA>CTG		basic leucine zipper nuclear factor 1							66.0	69.0	68.0					1																	169356240		2201	4300	6501	SO:0001819	synonymous_variant	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169356240A>G	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.1023A>G	1.37:g.169356240A>G						BLZF1_uc001gfy.2_Silent_p.L341L|BLZF1_uc009wvp.1_Silent_p.*245*	p.L341L	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			7	1460	+	all_hematologic(923;0.208)		341					O15298|Q5T531|Q5T533|Q9GZX4	Silent	SNP	ENST00000367808.3	37	c.1023A>G	CCDS1278.1																																																																																				PASS	0.328	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		4	36	4	36	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179503957	179503957	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:179503957A>T	ENST00000367618.3	+	25	3278	c.2891A>T	c.(2890-2892)gAg>gTg	p.E964V		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	964	Glu-rich.							p.E964V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAAGATCTAGAGGAATTAGTC	0.343																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2890-2892)GAG>GTG		hypothetical protein LOC126859 isoform 1							60.0	63.0	62.0					1																	179503957		2201	4300	6501	SO:0001583	missense	126859							g.chr1:179503957A>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2891A>T	1.37:g.179503957A>T	ENSP00000356590:p.Glu964Val					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E890V|C1orf125_uc009wxh.2_RNA	p.E964V	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			25	3018	+			964			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2891A>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331982	0.60853	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.30182	1.78;1.54	4.61	4.61	0.57282	.	0.073111	0.51477	D	0.000098	T	0.38585	0.1046	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.07597	-1.0764	10	0.30078	T	0.28	-8.0475	11.7602	0.51898	1.0:0.0:0.0:0.0	.	848;964	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	V	964;848;824	ENSP00000356590:E964V;ENSP00000391716:E824V	ENSP00000353471:E848V	E	+	2	0	AXDND1	177770580	0.352000	0.24895	0.203000	0.23512	0.834000	0.47266	1.389000	0.34453	2.038000	0.60285	0.482000	0.46254	GAG		PASS	0.343	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		6	46	6	46	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179966093	179966093	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:179966093C>A	ENST00000367607.3	+	6	1219	c.801C>A	c.(799-801)tcC>tcA	p.S267S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	267					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S267S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTTCTAATTCCCAAAGATTAG	0.378																																						uc001gnt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(799-801)TCC>TCA		centrosome-associated protein 350							106.0	109.0	108.0					1																	179966093		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179966093C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.801C>A	1.37:g.179966093C>A						CEP350_uc001gnr.1_Silent_p.S241S|CEP350_uc009wxl.2_Silent_p.S266S|CEP350_uc001gnu.2_Silent_p.S101S	p.S267S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			6	1184	+			267					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.801C>A	CCDS1336.1																																																																																				PASS	0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		7	84	7	84	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276847	186276847	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:186276847C>A	ENST00000445192.2	+	7	2041	c.1996C>A	c.(1996-1998)Ccc>Acc	p.P666T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P623T|PRG4_ENST00000367485.4_Missense_Mutation_p.P573T|PRG4_ENST00000367483.4_Missense_Mutation_p.P625T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	666	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P666T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GGAGCCTGCTCCCACCACTCC	0.667																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1996-1998)CCC>ACC		proteoglycan 4 isoform A							42.0	51.0	48.0					1																	186276847		2202	4298	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276847C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1996C>A	1.37:g.186276847C>A	ENSP00000399679:p.Pro666Thr					PRG4_uc001grt.3_Missense_Mutation_p.P625T|PRG4_uc009wyl.2_Missense_Mutation_p.P573T|PRG4_uc009wym.2_Missense_Mutation_p.P532T|PRG4_uc010poo.1_Intron	p.P666T	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2047	+			666			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|38; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1996C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	3.034	-0.198997	0.06219	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.08546	3.09;3.23;3.08;3.19	1.93	-2.55	0.06288	.	.	.	.	.	T	0.06371	0.0164	L	0.49126	1.545	0.09310	N	0.999991	B;B;B;B	0.25312	0.123;0.123;0.075;0.123	B;B;B;B	0.16289	0.015;0.015;0.007;0.015	T	0.39333	-0.9619	8	.	.	.	.	3.7753	0.08657	0.2346:0.4951:0.0:0.2704	.	532;573;666;625	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	623;532;625;573;666	ENSP00000356456:P623T;ENSP00000356453:P625T;ENSP00000356455:P573T;ENSP00000399679:P666T	.	P	+	1	0	PRG4	184543470	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.929000	0.03976	-0.252000	0.09528	0.298000	0.19748	CCC		PASS	0.667	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	52	5	52	---	---	---	---
ATP6V1G3	127124	broad.mit.edu	37	1	198509707	198509707	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:198509707G>C	ENST00000367382.1	-	1	158	c.74C>G	c.(73-75)gCc>gGc	p.A25G	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.A25G|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.A25G|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.A25G|ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.A25G			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	25					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.A25G(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ACTCTTCTTGGCTTCCTCTAG	0.493																																						uc001gup.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(73-75)GCC>GGC		ATPase, H+ transporting, lysosomal, V1 subunit							226.0	194.0	205.0					1																	198509707		2203	4300	6503	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198509707G>C	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.74C>G	1.37:g.198509707G>C	ENSP00000356352:p.Ala25Gly					ATP6V1G3_uc009wzd.2_Missense_Mutation_p.A25G|ATP6V1G3_uc001guo.2_Missense_Mutation_p.A25G	p.A25G	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN			2	180	-			25			Potential.		Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.74C>G	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538622	0.85917	.	.	ENSG00000151418	ENST00000367382;ENST00000309309;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T;T	0.66280	-0.17;-0.2;-0.2;-0.17;-0.2	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.91768	3.24	0.58432	D	0.999995	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.85130	0.975;0.975;0.997	D	0.86640	0.1891	10	0.87932	D	0	-10.2215	18.0535	0.89357	0.0:0.0:1.0:0.0	.	25;25;25	Q96LB4-4;Q96LB4;Q96LB4-3	.;VATG3_HUMAN;.	G	25	ENSP00000356352:A25G;ENSP00000309574:A25G;ENSP00000356351:A25G;ENSP00000281087:A25G;ENSP00000417171:A25G	ENSP00000281087:A25G	A	-	2	0	ATP6V1G3	196776330	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.508000	0.73721	2.868000	0.98415	0.555000	0.69702	GCC		PASS	0.493	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		18	59	18	59	---	---	---	---
LAX1	54900	broad.mit.edu	37	1	203741202	203741202	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:203741202A>G	ENST00000442561.2	+	4	707	c.317A>G	c.(316-318)cAt>cGt	p.H106R	LAX1_ENST00000367217.5_Missense_Mutation_p.H90R|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	106					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.H106R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAGGGAGACATGAGTCGAGG	0.493																																						uc001haa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(316-318)CAT>CGT		lymphocyte transmembrane adaptor 1 isoform a							132.0	119.0	124.0					1																	203741202		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203741202A>G	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.317A>G	1.37:g.203741202A>G	ENSP00000406970:p.His106Arg					LAX1_uc010pql.1_Missense_Mutation_p.H90R|LAX1_uc001hab.2_Missense_Mutation_p.H30R	p.H106R	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	727	+	all_cancers(21;0.0915)		106			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.317A>G	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.315186	0.01331	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.16	-5.64	0.02466	.	1.109350	0.06765	N	0.782499	T	0.23451	0.0567	L	0.32530	0.975	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.20371	-1.0277	9	0.20046	T	0.44	0.5635	3.2706	0.06880	0.3316:0.12:0.4185:0.1299	.	90;106	B7Z744;Q8IWV1	.;LAX1_HUMAN	R	106;90	.	ENSP00000356186:H90R	H	+	2	0	LAX1	202007825	0.001000	0.12720	0.004000	0.12327	0.708000	0.40852	-0.692000	0.05127	-0.967000	0.03582	-0.438000	0.05819	CAT		PASS	0.493	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		23	41	23	41	---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220287687	220287687	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:220287687G>T	ENST00000302637.5	+	12	1615	c.1511G>T	c.(1510-1512)gGa>gTa	p.G504V	IARS2_ENST00000366922.1_Missense_Mutation_p.G432V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	504					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.G504V(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTTATTCCTGGATCAGCACTG	0.373																																						uc001hmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1510-1512)GGA>GTA		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						150.0	150.0	150.0					1																	220287687		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220287687G>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1511G>T	1.37:g.220287687G>T	ENSP00000303279:p.Gly504Val						p.G504V	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	12	1615	+			504					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1511G>T	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902530	0.33628	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.43294	0.95;0.95	5.12	3.1	0.35709	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.269182	0.41396	D	0.000896	T	0.45736	0.1357	M	0.74467	2.265	0.58432	D	0.999996	B	0.21381	0.055	B	0.23716	0.048	T	0.52540	-0.8562	10	0.49607	T	0.09	-0.5401	15.3989	0.74823	0.0:0.4487:0.5513:0.0	.	504	Q9NSE4	SYIM_HUMAN	V	432;504	ENSP00000355889:G432V;ENSP00000303279:G504V	ENSP00000303279:G504V	G	+	2	0	IARS2	218354310	0.969000	0.33509	0.996000	0.52242	0.815000	0.46073	2.053000	0.41326	1.275000	0.44379	-0.165000	0.13383	GGA		PASS	0.373	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		34	71	34	71	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222717191	222717191	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:222717191G>C	ENST00000343410.6	-	2	720	c.662C>G	c.(661-663)tCc>tGc	p.S221C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	221					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.S221C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATGGACCATGGAGACGGGGTT	0.637																																						uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)TCC>TGC		HHIP-like 2 precursor							63.0	58.0	59.0					1																	222717191		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717191G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.662C>G	1.37:g.222717191G>C	ENSP00000342118:p.Ser221Cys						p.S221C	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	720	-			221					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.662C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538011	0.45176	.	.	ENSG00000143512	ENST00000343410	T	0.12774	2.65	5.31	4.36	0.52297	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.667620	0.14848	N	0.294846	T	0.21962	0.0529	L	0.45352	1.415	0.09310	N	1	P	0.45531	0.86	P	0.59115	0.852	T	0.10382	-1.0632	10	0.42905	T	0.14	-15.4079	4.8703	0.13629	0.1938:0.1866:0.6196:0.0	.	221	Q6UWX4	HIPL2_HUMAN	C	221	ENSP00000342118:S221C	ENSP00000342118:S221C	S	-	2	0	HHIPL2	220783814	0.002000	0.14202	0.852000	0.33557	0.699000	0.40488	0.377000	0.20552	1.158000	0.42547	0.467000	0.42956	TCC		PASS	0.637	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		13	32	13	32	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233497839	233497839	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:233497839T>G	ENST00000366624.3	+	5	1613	c.1352T>G	c.(1351-1353)cTg>cGg	p.L451R	MLK4_ENST00000366623.3_Missense_Mutation_p.L451R	NM_032435.2	NP_115811.2												p.L451R(1)									CGGGCGGCTCTGCAGCAGAAG	0.582																																						uc001hvt.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(1351-1353)CTG>CGG		mixed lineage kinase 4							21.0	25.0	23.0					1																	233497839		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233497839T>G																												ENST00000366624.3:c.1352T>G	1.37:g.233497839T>G	ENSP00000355583:p.Leu451Arg					KIAA1804_uc001hvs.1_Missense_Mutation_p.L451R	p.L451R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			5	1613	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	451						Missense_Mutation	SNP	ENST00000366624.3	37	c.1352T>G	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788320	0.31593	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.76578	-0.9;-1.03	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000007	T	0.69682	0.3138	L	0.50333	1.59	0.80722	D	1	B;B	0.33826	0.427;0.01	B;B	0.33690	0.168;0.02	T	0.66221	-0.5978	10	0.08179	T	0.78	.	14.4474	0.67361	0.0:0.0:0.0:1.0	.	451;451	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	R	451	ENSP00000355582:L451R;ENSP00000355583:L451R	ENSP00000355582:L451R	L	+	2	0	RP5-862P8.2	231564462	1.000000	0.71417	0.878000	0.34440	0.857000	0.48899	7.853000	0.86934	1.995000	0.58328	0.533000	0.62120	CTG		PASS	0.582	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			4	8	4	8	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240966246	240966246	+	Silent	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:240966246T>A	ENST00000407727.1	-	15	1316	c.1317A>T	c.(1315-1317)atA>atT	p.I439I	RGS7_ENST00000446183.2_Silent_p.I355I|RGS7_ENST00000366565.1_Silent_p.I439I|RGS7_ENST00000331110.7_Silent_p.I413I|RGS7_ENST00000348120.2_Silent_p.I386I|RGS7_ENST00000366562.4_Silent_p.I439I|RGS7_ENST00000366564.1_Silent_p.I439I|RGS7_ENST00000401882.1_Silent_p.I386I|RGS7_ENST00000366563.1_Silent_p.I439I			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	439	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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.I439I(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)			CACTGGATCTTATAAAACGTG	0.348																																						uc001hyv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(1315-1317)ATA>ATT		regulator of G-protein signaling 7							143.0	152.0	149.0					1																	240966246		2203	4300	6503	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.chr1:240966246T>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1317A>T	1.37:g.240966246T>A						RGS7_uc010pyh.1_Silent_p.I413I|RGS7_uc010pyj.1_Silent_p.I355I|RGS7_uc001hyu.2_Silent_p.I439I|RGS7_uc009xgn.1_Silent_p.I386I|RGS7_uc001hyw.2_Silent_p.I439I|RGS7_uc001hyt.2_Silent_p.I271I	p.I439I	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1647	-		all_cancers(173;0.0131)	439			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.1317A>T																																																																																					PASS	0.348	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		36	59	36	59	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241033393	241033393	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:241033393G>T	ENST00000407727.1	-	6	411	c.412C>A	c.(412-414)Caa>Aaa	p.Q138K	RGS7_ENST00000446183.2_Missense_Mutation_p.Q54K|RGS7_ENST00000366565.1_Missense_Mutation_p.Q138K|RGS7_ENST00000331110.7_Missense_Mutation_p.Q112K|RGS7_ENST00000348120.2_Missense_Mutation_p.Q85K|RGS7_ENST00000366562.4_Missense_Mutation_p.Q138K|RGS7_ENST00000366564.1_Missense_Mutation_p.Q138K|RGS7_ENST00000401882.1_Missense_Mutation_p.Q85K|RGS7_ENST00000366563.1_Missense_Mutation_p.Q138K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	138					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.Q138K(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)			GCCTTGTTTTGCATTGTTCTC	0.428																																						uc001hyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(412-414)CAA>AAA		regulator of G-protein signaling 7							223.0	189.0	200.0					1																	241033393		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241033393G>T	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.412C>A	1.37:g.241033393G>T	ENSP00000384428:p.Gln138Lys					RGS7_uc010pyh.1_Missense_Mutation_p.Q112K|RGS7_uc010pyj.1_Missense_Mutation_p.Q54K|RGS7_uc001hyu.2_Missense_Mutation_p.Q138K|RGS7_uc009xgn.1_Missense_Mutation_p.Q85K|RGS7_uc001hyw.2_Missense_Mutation_p.Q138K|RGS7_uc001hyt.2_5'Flank	p.Q138K	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		7	742	-		all_cancers(173;0.0131)	138					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.412C>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.534516	0.85812	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.31769	1.5;1.5;1.5;1.49;1.48;1.51;1.5;1.49;1.48	5.85	5.85	0.93711	.	0.054724	0.85682	D	0.000000	T	0.41442	0.1159	L	0.39020	1.185	0.80722	D	1	P;P;D;P;P;P	0.54772	0.956;0.895;0.968;0.883;0.925;0.532	P;B;P;P;P;B	0.56612	0.802;0.387;0.792;0.734;0.661;0.155	T	0.02138	-1.1207	10	0.25751	T	0.34	-16.2896	19.1541	0.93503	0.0:0.0:1.0:0.0	.	54;112;85;138;138;138	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	K	112;138;138;138;85;54;138;138;85	ENSP00000331485:Q112K;ENSP00000355523:Q138K;ENSP00000355522:Q138K;ENSP00000355521:Q138K;ENSP00000341242:Q85K;ENSP00000390138:Q54K;ENSP00000355520:Q138K;ENSP00000384428:Q138K;ENSP00000385508:Q85K	ENSP00000331485:Q112K	Q	-	1	0	RGS7	239100016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.724000	0.98775	2.762000	0.94881	0.585000	0.79938	CAA		PASS	0.428	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		32	60	32	60	---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246078937	246078937	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:246078937G>T	ENST00000388985.4	-	8	707	c.708C>A	c.(706-708)acC>acA	p.T236T	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Silent_p.T177T|SMYD3_ENST00000490107.1_Silent_p.T177T			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	236	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.T177T(1)|p.T236T(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGTAGCAGATGGTGAGCTGTG	0.473																																						uc001ibl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(706-708)ACC>ACA		SET and MYND domain containing 3							83.0	68.0	73.0					1																	246078937		2203	4300	6503	SO:0001819	synonymous_variant	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246078937G>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.708C>A	1.37:g.246078937G>T						SMYD3_uc001ibk.2_Silent_p.T177T|SMYD3_uc001ibi.2_Silent_p.T47T|SMYD3_uc001ibj.2_Silent_p.T47T	p.T236T	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	8	803	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	236			SET.		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	ENST00000388985.4	37	c.708C>A	CCDS53486.1																																																																																				PASS	0.473	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		6	53	6	53	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588746	247588746	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:247588746C>A	ENST00000336119.3	+	3	2747	c.2001C>A	c.(1999-2001)tcC>tcA	p.S667S	NLRP3_ENST00000366496.2_Silent_p.S667S|NLRP3_ENST00000366497.2_Silent_p.S667S|NLRP3_ENST00000391827.2_Silent_p.S667S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.S667S|NLRP3_ENST00000391828.3_Silent_p.S667S	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	667					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.S667S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGTTTCTTCCTTTTGCATTG	0.512																																						uc001icr.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1999-2001)TCC>TCA		NLR family, pyrin domain containing 3 isoform a							98.0	83.0	88.0					1																	247588746		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588746C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2001C>A	1.37:g.247588746C>A						NLRP3_uc001ics.2_Silent_p.S667S|NLRP3_uc001icu.2_Silent_p.S667S|NLRP3_uc001icw.2_Silent_p.S667S|NLRP3_uc001icv.2_Silent_p.S667S|NLRP3_uc010pyw.1_Silent_p.S665S|NLRP3_uc001ict.1_Silent_p.S665S	p.S667S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2139	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	667					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2001C>A	CCDS1632.1																																																																																				PASS	0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		5	36	5	36	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978831	247978831	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:247978831C>A	ENST00000357627.1	-	1	200	c.201G>T	c.(199-201)ttG>ttT	p.L67F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L67F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGCAGAGATCCAAGAAAGATA	0.433																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)TTG>TTT		olfactory receptor, family 14, subfamily A,							74.0	76.0	75.0					1																	247978831		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978831C>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.201G>T	1.37:g.247978831C>A	ENSP00000350248:p.Leu67Phe						p.L67F	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	201	-			67			Helical; Name=2; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.201G>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	9.377	1.071926	0.20147	.	.	ENSG00000196772	ENST00000357627	T	0.14391	2.51	3.32	-3.41	0.04839	GPCR, rhodopsin-like superfamily (1);	2.080570	0.02996	N	0.147493	T	0.24122	0.0584	M	0.91406	3.205	0.09310	N	0.999997	B	0.28258	0.205	B	0.34301	0.179	T	0.45731	-0.9241	10	0.87932	D	0	.	1.2142	0.01910	0.3724:0.1488:0.3028:0.1759	.	67	Q8NHC5	O14AG_HUMAN	F	67	ENSP00000350248:L67F	ENSP00000350248:L67F	L	-	3	2	OR14A16	246045454	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-3.185000	0.00567	-0.488000	0.06726	-0.264000	0.10439	TTG		PASS	0.433	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		5	76	5	76	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263099	248263099	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:248263099T>A	ENST00000358120.2	+	2	567	c.422T>A	c.(421-423)gTg>gAg	p.V141E	OR2L13_ENST00000366478.2_Missense_Mutation_p.V141E			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V141E(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			ATGATGTGTGTGAAGATGATT	0.488																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(421-423)GTG>GAG		olfactory receptor, family 2, subfamily L,							247.0	222.0	230.0					1																	248263099		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263099T>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.422T>A	1.37:g.248263099T>A	ENSP00000350836:p.Val141Glu						p.V141E	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	759	+	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)		141			Helical; Name=4; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.422T>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	9.738	1.164035	0.21538	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.39406	1.08;1.08	4.31	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.724956	0.11841	N	0.524277	T	0.52597	0.1744	M	0.90542	3.125	0.09310	N	1	B	0.28470	0.213	B	0.35114	0.196	T	0.53315	-0.8456	10	0.59425	D	0.04	.	8.4778	0.33023	0.0:0.2425:0.0:0.7575	.	141	Q8N349	OR2LD_HUMAN	E	141	ENSP00000355434:V141E;ENSP00000350836:V141E	ENSP00000350836:V141E	V	+	2	0	OR2L13	246329722	0.000000	0.05858	0.593000	0.28771	0.024000	0.10985	-0.123000	0.10611	0.672000	0.31204	-0.280000	0.10049	GTG		PASS	0.488	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		41	132	41	132	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248367107	248367107	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:248367107G>T	ENST00000456743.1	+	1	776	c.738G>T	c.(736-738)ttG>ttT	p.L246F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L246F(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			CTCACCTCTTGGTGGTGGGAA	0.483																																						uc010pzg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(736-738)TTG>TTT		olfactory receptor, family 2, subfamily M,							234.0	216.0	222.0					1																	248367107		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367107G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.738G>T	1.37:g.248367107G>T	ENSP00000389625:p.Leu246Phe						p.L246F	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	738	+	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)		246			Helical; Name=6; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.738G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	6.379	0.438046	0.12104	.	.	ENSG00000228198	ENST00000456743	T	0.39229	1.09	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	1.312740	0.05617	U	0.579148	T	0.26085	0.0636	N	0.26042	0.785	0.09310	N	1	B	0.18166	0.026	B	0.28784	0.094	T	0.26018	-1.0115	10	0.87932	D	0	.	0.269	0.00229	0.3343:0.2107:0.1371:0.318	.	246	Q8NG83	OR2M3_HUMAN	F	246	ENSP00000389625:L246F	ENSP00000389625:L246F	L	+	3	2	OR2M3	246433730	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-5.811000	0.00097	-2.276000	0.00678	-1.156000	0.01807	TTG		PASS	0.483	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		18	128	18	128	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570351	248570351	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:248570351G>T	ENST00000366474.1	+	1	1056	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	352						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K352N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGCTCTGAAGAGGGCCTTGG	0.517																																						uc010pzm.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1054-1056)AAG>AAT		olfactory receptor, family 2, subfamily T,							144.0	155.0	151.0					1																	248570351		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570351G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.1056G>T	1.37:g.248570351G>T	ENSP00000355430:p.Lys352Asn						p.K352N	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1056	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		352			Cytoplasmic (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.1056G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	11.84	1.759767	0.31137	.	.	ENSG00000175143	ENST00000366474	T	0.42900	0.96	5.19	1.24	0.21308	.	0.416543	0.17358	U	0.177131	T	0.33381	0.0861	L	0.45470	1.425	0.09310	N	1	B	0.18310	0.027	B	0.18561	0.022	T	0.29610	-1.0006	10	0.62326	D	0.03	.	8.1793	0.31300	0.3428:0.0:0.6572:0.0	.	352	O43869	OR2T1_HUMAN	N	352	ENSP00000355430:K352N	ENSP00000355430:K352N	K	+	3	2	OR2T1	246636974	.	.	0.000000	0.03702	0.185000	0.23345	.	.	0.213000	0.20722	-0.140000	0.14226	AAG		PASS	0.517	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			7	132	7	132	---	---	---	---
OR2T27	403239	broad.mit.edu	37	1	248814146	248814146	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr1:248814146G>A	ENST00000344889.3	-	1	39	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14F(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAACCCAGAAGGATAAAGTCG	0.448																																						uc010pzo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(40-42)CTT>TTT		olfactory receptor, family 2, subfamily T,							71.0	65.0	67.0					1																	248814146		2202	4295	6497	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814146G>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.40C>T	1.37:g.248814146G>A	ENSP00000342008:p.Leu14Phe						p.L14F	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	40	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	14			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.40C>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	1.906	-0.451935	0.04572	.	.	ENSG00000187701	ENST00000344889	T	0.00949	5.51	3.3	3.3	0.37823	.	0.000000	0.35772	N	0.002999	T	0.01421	0.0046	L	0.48986	1.54	0.09310	N	1	B	0.24132	0.098	B	0.32342	0.144	T	0.38457	-0.9660	10	0.52906	T	0.07	.	8.6318	0.33924	0.1179:0.0:0.8821:0.0	.	14	Q8NH04	O2T27_HUMAN	F	14	ENSP00000342008:L14F	ENSP00000342008:L14F	L	-	1	0	OR2T27	246880769	0.998000	0.40836	0.071000	0.20095	0.031000	0.12232	4.323000	0.59221	1.854000	0.53819	0.194000	0.17425	CTT		PASS	0.448	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		8	41	8	41	---	---	---	---
TSSC1	7260	broad.mit.edu	37	2	3197910	3197910	+	Missense_Mutation	SNP	G	G	T	rs148611386		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:3197910G>T	ENST00000382125.4	-	7	873	c.681C>A	c.(679-681)caC>caA	p.H227Q	TSSC1_ENST00000398659.4_Missense_Mutation_p.H254Q|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	227								p.H227Q(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CCAGCTGTCCGTGGGCATTCT	0.507																																					Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)CAC>CAA		tumor suppressing subtransferable candidate 1							86.0	91.0	90.0					2																	3197910		2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3197910G>T	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.681C>A	2.37:g.3197910G>T	ENSP00000371559:p.His227Gln					TSSC1_uc002qxi.2_RNA	p.H227Q	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	7	874	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	227			WD 3.		D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.681C>A	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268999	0.59540	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	T;T;T	0.81415	-1.49;-1.49;-1.49	5.29	-1.47	0.08772	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144842	0.64402	D	0.000009	D	0.87822	0.6274	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.87380	0.2356	10	0.87932	D	0	-12.1083	12.4425	0.55634	0.4983:0.0:0.5017:0.0	.	227	Q53HC9	TSSC1_HUMAN	Q	227;254;76	ENSP00000371559:H227Q;ENSP00000381652:H254Q;ENSP00000393350:H76Q	ENSP00000371559:H227Q	H	-	3	2	TSSC1	3176917	0.011000	0.17503	0.989000	0.46669	0.836000	0.47400	-0.714000	0.05002	-0.195000	0.10382	-0.140000	0.14226	CAC		PASS	0.507	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		4	87	4	87	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15770902	15770902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:15770902G>T	ENST00000381341.2	+	27	2484	c.2095G>T	c.(2095-2097)Gga>Tga	p.G699*	DDX1_ENST00000233084.3_Nonsense_Mutation_p.G699*			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	699	Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.G699*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGATGCAGGTGGAAGCTATAA	0.403																																						uc002rce.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2095-2097)GGA>TGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							206.0	197.0	200.0					2																	15770902		2203	4300	6503	SO:0001587	stop_gained	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770902G>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2095G>T	2.37:g.15770902G>T	ENSP00000370745:p.Gly699*						p.G699*	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	26	2383	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	699			Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Nonsense_Mutation	SNP	ENST00000381341.2	37	c.2095G>T	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	42	9.352605	0.99145	.	.	ENSG00000079785	ENST00000381341;ENST00000233084	.	.	.	6.17	6.17	0.99709	.	0.047994	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-25.1288	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	699	.	ENSP00000233084:G699X	G	+	1	0	DDX1	15688353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.706000	0.68362	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.403	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		7	175	7	175	---	---	---	---
APOB	338	broad.mit.edu	37	2	21255260	21255260	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:21255260C>A	ENST00000233242.1	-	10	1445	c.1318G>T	c.(1318-1320)Gcc>Tcc	p.A440S	APOB_ENST00000399256.4_Missense_Mutation_p.A440S	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	440	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A440S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAAGGTGGCTCGGCTGCGC	0.562																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1318-1320)GCC>TCC		apolipoprotein B precursor	Atorvastatin(DB01076)						83.0	80.0	81.0					2																	21255260		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21255260C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1318G>T	2.37:g.21255260C>A	ENSP00000233242:p.Ala440Ser						p.A440S	NM_000384	NP_000375	P04114	APOB_HUMAN			10	1446	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		440			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1318G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147753	0.78001	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.38722	1.12;1.12	5.26	2.41	0.29592	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.098533	0.44285	D	0.000467	T	0.48114	0.1482	M	0.74881	2.28	0.28996	N	0.887766	P	0.43578	0.811	P	0.48270	0.572	T	0.44221	-0.9342	10	0.36615	T	0.2	.	9.5588	0.39355	0.0:0.7437:0.1194:0.1369	.	440	P04114	APOB_HUMAN	S	440	ENSP00000233242:A440S;ENSP00000382200:A440S	ENSP00000233242:A440S	A	-	1	0	APOB	21108765	0.999000	0.42202	0.957000	0.39632	0.873000	0.50193	2.287000	0.43505	0.705000	0.31890	0.650000	0.86243	GCC		PASS	0.562	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			31	48	31	48	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29296003	29296003	+	Silent	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:29296003T>C	ENST00000331664.5	-	1	1124	c.1125A>G	c.(1123-1125)ccA>ccG	p.P375P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	375					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.P375P(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTTCGGGCTCTGGTGCAAGGT	0.577																																						uc002rmt.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1123-1125)CCA>CCG		hypothetical protein LOC388939							59.0	60.0	60.0					2																	29296003		2099	4241	6340	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296003T>C		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1125A>G	2.37:g.29296003T>C							p.P375P	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	1125	-			375						Silent	SNP	ENST00000331664.5	37	c.1125A>G	CCDS42669.1																																																																																				PASS	0.577	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		12	39	12	39	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32449823	32449823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:32449823C>A	ENST00000404025.2	-	10	3282	c.2794G>T	c.(2794-2796)Gga>Tga	p.G932*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.G932*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.G267*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.G932*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	932					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.G932*(1)|p.G932R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGGTTCTTTCCAAAAAATGCA	0.328																																						uc002roi.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|skin(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(2794-2796)GGA>TGA		caspase recruitment domain protein 12							41.0	43.0	42.0					2																	32449823		2203	4299	6502	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32449823C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2794G>T	2.37:g.32449823C>A	ENSP00000385090:p.Gly932*					NLRC4_uc002roj.1_Nonsense_Mutation_p.G932*|NLRC4_uc010ezt.1_Nonsense_Mutation_p.G267*	p.G932*	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			9	3040	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		932			LRR 11.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.2794G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955514	0.92726	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.48	2.69	0.31865	.	0.511959	0.14428	N	0.320188	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.1377	8.2673	0.31821	0.0:0.8105:0.0:0.1895	.	.	.	.	X	932;932;267;932	.	ENSP00000339666:G267X	G	-	1	0	NLRC4	32303327	0.019000	0.18553	0.031000	0.17742	0.047000	0.14425	0.356000	0.20181	0.538000	0.28769	-0.137000	0.14449	GGA		PASS	0.328	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		5	55	5	55	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33246006	33246006	+	Missense_Mutation	SNP	G	G	T	rs148571124		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:33246006G>T	ENST00000404816.2	+	3	949	c.596G>T	c.(595-597)gGg>gTg	p.G199V	LTBP1_ENST00000354476.3_Missense_Mutation_p.G199V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	199	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G199V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGAATGGAGGGATGTGTCTC	0.488																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(595-597)GGG>GTG		latent transforming growth factor beta binding							195.0	201.0	199.0					2																	33246006		2203	4298	6501	SO:0001583	missense	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.chr2:33246006G>T		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.596G>T	2.37:g.33246006G>T	ENSP00000386043:p.Gly199Val						p.G199V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			3	596	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	199			EGF-like 1.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.596G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520897	0.64747	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	D;D	0.96967	-4.19;-4.19	4.8	4.8	0.61643	.	.	.	.	.	D	0.98576	0.9524	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99793	1.1032	9	0.87932	D	0	.	18.2483	0.89995	0.0:0.0:1.0:0.0	.	199	Q14766-4	.	V	199	ENSP00000386043:G199V;ENSP00000346467:G199V	ENSP00000346467:G199V	G	+	2	0	LTBP1	33099510	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.628000	0.90979	2.359000	0.80004	0.637000	0.83480	GGG		PASS	0.488	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		9	259	9	259	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37283723	37283723	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:37283723C>A	ENST00000233099.5	-	16	2354	c.2259G>T	c.(2257-2259)ctG>ctT	p.L753L	HEATR5B_ENST00000354531.2_Silent_p.L753L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	753						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L753L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATCATGCTCCAGAGCCCCAC	0.448																																						uc002rpp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(2257-2259)CTG>CTT		HEAT repeat containing 5B							79.0	85.0	83.0					2																	37283723		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37283723C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2259G>T	2.37:g.37283723C>A							p.L753L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			16	2355	-		all_hematologic(82;0.21)	753					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2259G>T	CCDS33181.1																																																																																				PASS	0.448	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		6	139	6	139	---	---	---	---
GALM	130589	broad.mit.edu	37	2	38956735	38956735	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:38956735G>T	ENST00000272252.5	+	5	924	c.672G>T	c.(670-672)ctG>ctT	p.L224L	GALM_ENST00000410063.1_Silent_p.L76L	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	224					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)	p.L224L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CATTCGACCTGAGAAAGCCAG	0.443																																						uc002rqy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(670-672)CTG>CTT		galactose mutarotase							108.0	113.0	111.0					2																	38956735		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38956735G>T		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.672G>T	2.37:g.38956735G>T							p.L224L	NM_138801	NP_620156	Q96C23	GALM_HUMAN			5	924	+		all_hematologic(82;0.248)	224					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.672G>T	CCDS1797.1																																																																																				PASS	0.443	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		6	110	6	110	---	---	---	---
C2orf61	285051	broad.mit.edu	37	2	47357337	47357337	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:47357337G>T	ENST00000445927.2	-	4	588	c.462C>A	c.(460-462)tcC>tcA	p.S154S	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000294947.2_Silent_p.S154S	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	154								p.S154S(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ATAATTACCTGGAAGCATATT	0.403																																						uc002rvs.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(460-462)TCC>TCA		hypothetical protein LOC285051 isoform 2							77.0	81.0	80.0					2																	47357337		2203	4300	6503	SO:0001819	synonymous_variant	285051							g.chr2:47357337G>T	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.462C>A	2.37:g.47357337G>T						C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Silent_p.S154S	p.S154S	NM_173649	NP_775920	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		4	589	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	154					H7C2Z2	Silent	SNP	ENST00000445927.2	37	c.462C>A	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211051	0.39102	.	.	ENSG00000239605	ENST00000449846	.	.	.	5.72	4.84	0.62591	.	.	.	.	.	T	0.60573	0.2279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57254	-0.7843	4	.	.	.	-15.7117	9.6558	0.39925	0.0923:0.0:0.9077:0.0	.	.	.	.	Q	34	.	.	P	-	2	0	C2orf61	47210841	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	2.184000	0.42575	2.704000	0.92352	0.650000	0.86243	CCA		PASS	0.403	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		6	60	6	60	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50318467	50318467	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:50318467G>T	ENST00000406316.2	-	19	5188	c.3712C>A	c.(3712-3714)Cct>Act	p.P1238T	NRXN1_ENST00000402717.3_Missense_Mutation_p.P1230T|NRXN1_ENST00000405472.3_Missense_Mutation_p.P1230T|NRXN1_ENST00000342183.5_Missense_Mutation_p.P203T|NRXN1_ENST00000404971.1_Missense_Mutation_p.P1278T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P1238T|NRXN1_ENST00000401710.1_Missense_Mutation_p.P256T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P1238T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1238	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.P1279T(1)|p.P1238T(1)|p.P1278T(1)|p.P203T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTACCTGCAGGGTAGCGCTCG	0.448																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(607-609)CCT>ACT		neurexin 1 isoform beta precursor							201.0	189.0	193.0					2																	50318467		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50318467G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3712C>A	2.37:g.50318467G>T	ENSP00000384311:p.Pro1238Thr					NRXN1_uc002rxb.3_Missense_Mutation_p.P910T|NRXN1_uc010fbq.2_Missense_Mutation_p.P1278T|NRXN1_uc002rxe.3_Missense_Mutation_p.P1238T	p.P203T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		3	1414	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	203			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.607C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475117	0.84640	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.1;-1.11;-1.1;-1.11;-1.11;-1.11;-1.1	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.53938	U	0.000050	D	0.91050	0.7184	M	0.91196	3.185	0.58432	D	0.999999	D;D;D;D	0.89917	0.984;1.0;1.0;1.0	D;D;D;D	0.97110	0.918;0.995;0.999;1.0	D	0.92597	0.6088	10	0.87932	D	0	.	19.4609	0.94916	0.0:0.0:1.0:0.0	.	1278;203;1238;1230	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	T	203;157;256;1278;1238;1230;1238;1279;1230;1238	ENSP00000341184:P203T;ENSP00000385580:P256T;ENSP00000385142:P1278T;ENSP00000384311:P1238T;ENSP00000434015:P1230T;ENSP00000385017:P1238T;ENSP00000385434:P1230T;ENSP00000385681:P1238T	ENSP00000341184:P203T	P	-	1	0	NRXN1	50171971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.600000	0.87896	0.563000	0.77884	CCT		PASS	0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			9	176	9	176	---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54036405	54036405	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:54036405C>A	ENST00000185150.4	+	10	1227	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	ERLEC1_ENST00000378239.5_Missense_Mutation_p.H312N|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.H366N	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	366	PRKCSH 2.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.H366N(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACATCAATACCATGAGGTATA	0.318																																						uc002rxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1096-1098)CAT>AAT		erlectin isoform 1							94.0	97.0	96.0					2																	54036405		2203	4296	6499	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54036405C>A	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1096C>A	2.37:g.54036405C>A	ENSP00000185150:p.His366Asn					ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.H366N|ERLEC1_uc002rxn.2_Missense_Mutation_p.H312N	p.H366N	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			10	1376	+			366			PRKCSH 2.		B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.1096C>A	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054716	0.93793	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T;T	0.03801	3.8;3.8;3.8	5.75	5.75	0.90469	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	.	.	.	0.45035	D	0.998057	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00169	-1.1962	9	0.87932	D	0	-17.3057	19.9522	0.97203	0.0:1.0:0.0:0.0	.	312;366;366	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	N	366;366;312	ENSP00000385629:H366N;ENSP00000185150:H366N;ENSP00000367485:H312N	ENSP00000185150:H366N	H	+	1	0	ERLEC1	53889909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.716000	0.84723	2.725000	0.93324	0.655000	0.94253	CAT		PASS	0.318	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		5	78	5	78	---	---	---	---
PUS10	150962	broad.mit.edu	37	2	61194650	61194650	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:61194650G>T	ENST00000316752.6	-	6	863	c.602C>A	c.(601-603)cCc>cAc	p.P201H	PUS10_ENST00000407787.1_Missense_Mutation_p.P201H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	201					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.P201H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCCATCAATGGGAACACCCAG	0.383																																						uc010fci.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|kidney(1)	4						c.(601-603)CCC>CAC		pseudouridylate synthase 10							154.0	157.0	156.0					2																	61194650		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61194650G>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.602C>A	2.37:g.61194650G>T	ENSP00000326003:p.Pro201His					PUS10_uc002sao.2_Missense_Mutation_p.P201H|PUS10_uc010ypk.1_5'UTR	p.P201H	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		6	662	-			201					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.602C>A	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349548	0.41599	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.87	5.87	0.94306	.	0.113936	0.64402	D	0.000008	T	0.56366	0.1980	L	0.43152	1.355	0.80722	D	1	B	0.18610	0.029	B	0.17433	0.018	T	0.51076	-0.8751	9	0.49607	T	0.09	-22.8742	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	201	Q3MIT2	PUS10_HUMAN	H	201	.	ENSP00000326003:P201H	P	-	2	0	PUS10	61048154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.811000	0.69187	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.383	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		7	153	7	153	---	---	---	---
PUS10	150962	broad.mit.edu	37	2	61194689	61194689	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:61194689C>A	ENST00000316752.6	-	6	824	c.563G>T	c.(562-564)tGg>tTg	p.W188L	PUS10_ENST00000407787.1_Missense_Mutation_p.W188L	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	188					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.W188L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GTGAGTTATCCATTTGTAGGC	0.363																																						uc010fci.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|kidney(1)	4						c.(562-564)TGG>TTG		pseudouridylate synthase 10							177.0	184.0	182.0					2																	61194689		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61194689C>A	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.563G>T	2.37:g.61194689C>A	ENSP00000326003:p.Trp188Leu					PUS10_uc002sao.2_Missense_Mutation_p.W188L|PUS10_uc010ypk.1_5'UTR	p.W188L	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		6	623	-			188					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.563G>T	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644721	0.87859	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	L	0.41492	1.28	0.80722	D	1	P	0.51537	0.946	P	0.46253	0.509	T	0.57791	-0.7750	9	0.46703	T	0.11	-27.4831	20.1225	0.97967	0.0:1.0:0.0:0.0	.	188	Q3MIT2	PUS10_HUMAN	L	188	.	ENSP00000326003:W188L	W	-	2	0	PUS10	61048193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.123000	0.71614	2.831000	0.97527	0.650000	0.86243	TGG		PASS	0.363	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		8	208	8	208	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73678881	73678881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:73678881C>T	ENST00000264448.6	+	8	5335	c.5224C>T	c.(5224-5226)Caa>Taa	p.Q1742*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q1742*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q1700*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1742	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.Q1742*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCTGTTCCTCAACCAGCTGA	0.428																																						uc002sje.1																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5230-5232)CAA>TAA		Alstrom syndrome 1							91.0	90.0	91.0					2																	73678881		1855	4101	5956	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678881C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5224C>T	2.37:g.73678881C>T	ENSP00000264448:p.Gln1742*					ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1700*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.Q1130*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q1130*	p.Q1744*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5341	+			1742			34 X 47 AA approximate tandem repeat.|26.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.5230C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	43	10.328698	0.99384	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	4.45	1.67	0.24075	.	1.136450	0.06956	N	0.815422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.782	0.13206	0.1994:0.1881:0.6125:0.0	.	.	.	.	X	1700;1742;1742	.	ENSP00000264448:Q1742X	Q	+	1	0	ALMS1	73532389	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.050000	0.11904	0.384000	0.24942	-0.311000	0.09066	CAA		PASS	0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		12	133	12	133	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717021	73717021	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:73717021C>A	ENST00000264448.6	+	10	8043	c.7932C>A	c.(7930-7932)tcC>tcA	p.S2644S	ALMS1_ENST00000409009.1_Silent_p.S2602S|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2644					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S2644S(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTGGAATTCCTTGCAGTTAA	0.423																																						uc002sje.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7936-7938)TCC>TCA		Alstrom syndrome 1							87.0	84.0	85.0					2																	73717021		1878	4107	5985	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717021C>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7932C>A	2.37:g.73717021C>A						ALMS1_uc002sjf.1_Silent_p.S2602S|ALMS1_uc002sjg.2_Silent_p.S2032S|ALMS1_uc002sjh.1_Silent_p.S2032S	p.S2646S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8049	+			2644					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.7938C>A	CCDS42697.1																																																																																				PASS	0.423	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	79	6	79	---	---	---	---
DNAH6	1768	broad.mit.edu	37	2	84775477	84775477	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:84775477G>T	ENST00000237449.6	+	7	1260	c.1252G>T	c.(1252-1254)Gac>Tac	p.D418Y	DNAH6_ENST00000398278.2_Missense_Mutation_p.D418Y|DNAH6_ENST00000389394.3_Missense_Mutation_p.D418Y			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	418	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D418Y(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CACTTATGGAGACTCTGAGAA	0.368																																						uc010fgb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1252-1254)GAC>TAC		dynein, axonemal, heavy polypeptide 6							120.0	118.0	118.0					2																	84775477		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84775477G>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1252G>T	2.37:g.84775477G>T	ENSP00000237449:p.Asp418Tyr					DNAH6_uc002soo.2_5'UTR|DNAH6_uc002sop.2_5'UTR	p.D418Y	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			8	1389	+			418			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1252G>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.976132	0.34848	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26957	1.7;1.83;1.7	5.44	2.52	0.30459	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21314	-1.0249	9	0.52906	T	0.07	.	5.9322	0.19144	0.1734:0.1584:0.6681:0.0	.	418	Q9C0G6	DYH6_HUMAN	Y	418	ENSP00000374045:D418Y;ENSP00000381326:D418Y;ENSP00000237449:D418Y	ENSP00000237449:D418Y	D	+	1	0	DNAH6	84628988	0.996000	0.38824	0.104000	0.21259	0.372000	0.29890	1.814000	0.38972	0.669000	0.31146	0.591000	0.81541	GAC		PASS	0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		24	51	24	51	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85850862	85850862	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:85850862C>A	ENST00000323701.6	+	4	537	c.527C>A	c.(526-528)cCa>cAa	p.P176Q	USP39_ENST00000409025.1_Missense_Mutation_p.P176Q|USP39_ENST00000409470.1_Missense_Mutation_p.P176Q|USP39_ENST00000450066.2_Missense_Mutation_p.P73Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Missense_Mutation_p.P176Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	176					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)	p.P176Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TACTGCCTTCCAGACAACTAT	0.493																																						uc002sqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(526-528)CCA>CAA		ubiquitin specific protease 39							274.0	238.0	250.0					2																	85850862		2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85850862C>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.527C>A	2.37:g.85850862C>A	ENSP00000312981:p.Pro176Gln					USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Missense_Mutation_p.P98Q|USP39_uc010ysv.1_Missense_Mutation_p.P73Q|USP39_uc010fgn.1_Missense_Mutation_p.P176Q|USP39_uc002sqf.2_Missense_Mutation_p.P176Q|USP39_uc002sqg.2_Missense_Mutation_p.P176Q|USP39_uc010fgo.2_Missense_Mutation_p.P176Q	p.P176Q	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN			4	563	+			176			UBP-type.		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.527C>A	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069397	0.93950	.	.	ENSG00000168883	ENST00000448971;ENST00000442708;ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.54;1.01;1.01;1.01;1.01	5.54	5.54	0.83059	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	H	0.94620	3.56	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.999;0.999;1.0	T	0.81660	-0.0832	10	0.72032	D	0.01	-11.1616	17.326	0.87248	0.0:1.0:0.0:0.0	.	73;98;176;176;176;176	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	Q	98;73;73;176;176;176;176;176	ENSP00000396854:P98Q;ENSP00000392911:P73Q;ENSP00000396133:P73Q;ENSP00000386572:P176Q;ENSP00000386864:P176Q;ENSP00000312981:P176Q;ENSP00000386803:P176Q	ENSP00000312981:P176Q	P	+	2	0	USP39	85704373	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.314000	0.78988	2.767000	0.95098	0.591000	0.81541	CCA		PASS	0.493	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		8	151	8	151	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88885387	88885387	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:88885387C>T	ENST00000303236.3	-	9	1923	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.R390H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	541					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.R541H(2)		ovary(3)	3						GAAAAGCCTGCGCACAATAAA	0.418																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)	3						c.(1621-1623)CGC>CAC		eukaryotic translation initiation factor 2-alpha							152.0	136.0	142.0					2																	88885387		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88885387C>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1622G>A	2.37:g.88885387C>T	ENSP00000307235:p.Arg541His						p.R541H	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			9	1824	-			541			Cytoplasmic (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1622G>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213259	0.95069	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.51817	0.69;0.69;0.69	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.51663	-0.8677	10	0.25751	T	0.34	-15.9553	19.9326	0.97124	0.0:1.0:0.0:0.0	.	541	Q9NZJ5	E2AK3_HUMAN	H	390;541;390;420	ENSP00000408325:R390H;ENSP00000307235:R541H;ENSP00000412076:R420H	ENSP00000307235:R541H	R	-	2	0	EIF2AK3	88666502	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.001000	0.63946	2.720000	0.93068	0.650000	0.86243	CGC		PASS	0.418	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		16	41	16	41	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98412760	98412760	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:98412760A>C	ENST00000186436.5	-	28	3349	c.3121T>G	c.(3121-3123)Tgt>Ggt	p.C1041G		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1041						integral component of membrane (GO:0016021)		p.C928G(1)|p.C1041G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATCCTTCACATGAGTATCCA	0.303																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3121-3123)TGT>GGT		RW1 protein							94.0	85.0	88.0					2																	98412760		1830	4080	5910	SO:0001583	missense	23505					integral to membrane		g.chr2:98412760A>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3121T>G	2.37:g.98412760A>C	ENSP00000186436:p.Cys1041Gly						p.C1041G	NM_015348	NP_056163	Q92545	TM131_HUMAN			28	3350	-			1041						Missense_Mutation	SNP	ENST00000186436.5	37	c.3121T>G	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299921	0.81136	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	D	0.89123	-2.47	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95748	0.8789	10	0.87932	D	0	-12.6556	16.3943	0.83563	1.0:0.0:0.0:0.0	.	1041	Q92545	TM131_HUMAN	G	1041;20	ENSP00000186436:C1041G	ENSP00000186436:C1041G	C	-	1	0	TMEM131	97779192	1.000000	0.71417	0.917000	0.36280	0.943000	0.58893	8.962000	0.93254	2.281000	0.76405	0.533000	0.62120	TGT		PASS	0.303	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		4	7	4	7	---	---	---	---
IMP4	92856	broad.mit.edu	37	2	131103469	131103470	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:131103469_131103470TC>CT	ENST00000259239.3	+	6	1265_1266	c.557_558TC>CT	c.(556-558)cTC>cCT	p.L186P	IMP4_ENST00000409935.1_Missense_Mutation_p.L186P	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	186	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.L186P(2)|p.L186L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AAGCCCCACCTCATCACACACG	0.639																																						uc002tra.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(2)	2						c.(556-558)CTC>CCC|c.(556-558)CTC>CTT		IMP4, U3 small nucleolar ribonucleoprotein,																																				SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103469T>C|g.chr2:131103470C>T	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	Exception_encountered	2.37:g.131103469_131103470delinsCT	ENSP00000259239:p.Leu186Pro						p.L186P|p.L186L	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			6	574|575	+	Colorectal(110;0.1)		186			Brix.		Q3ZTT3	Missense_Mutation|Silent	SNP	ENST00000259239.3	37	c.557T>C|c.558C>T	CCDS2160.1																																																																																				PASS	0.639	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		5	25|26	5	25	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141081591	141081591	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:141081591A>T	ENST00000389484.3	-	81	13356	c.12385T>A	c.(12385-12387)Tat>Aat	p.Y4129N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4129					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.Y4129N(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)		CCTGCTCCATATATATAATCT	0.294										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12385-12387)TAT>AAT		low density lipoprotein-related protein 1B							56.0	63.0	60.0					2																	141081591		2203	4286	6489	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081591A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12385T>A	2.37:g.141081591A>T	ENSP00000374135:p.Tyr4129Asn	TSP Lung(27;0.18)					p.Y4129N	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)	81	13357	-		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)	4129			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12385T>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.600553|4.600553	0.87055|0.87055	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.93763|.	-3.28|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.173558|0.173558	0.39274|0.39274	N|N	0.001409|0.001409	D|.	0.85566|.	0.5726|.	M|M	0.92738|0.92738	3.34|3.34	0.51012|0.51012	D|D	0.999907|0.999907	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	D|.	0.89146|.	0.3520|.	10|.	0.87932|.	D|.	0|.	.|.	16.1875|16.1875	0.81962|0.81962	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4129|.	Q9NZR2|.	LRP1B_HUMAN|.	N|X	4129;4067|360	ENSP00000374135:Y4129N|.	ENSP00000374135:Y4129N|.	Y|Y	-|-	1|3	0|2	LRP1B|LRP1B	140798061|140798061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	8.938000|8.938000	0.92943|0.92943	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	TAT|TAT		PASS	0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	36	34	36	---	---	---	---
TANK	10010	broad.mit.edu	37	2	162087607	162087607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:162087607G>T	ENST00000392749.2	+	7	885	c.646G>T	c.(646-648)Gga>Tga	p.G216*	TANK_ENST00000406287.1_Intron|TANK_ENST00000405852.1_Nonsense_Mutation_p.G216*|TANK_ENST00000259075.2_Nonsense_Mutation_p.G216*|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	216					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.G216*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CACACCAAGAGGACTGTGCAG	0.403																																						uc002ubr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(646-648)GGA>TGA		TRAF interacting protein TANK isoform a							117.0	110.0	112.0					2																	162087607		2203	4300	6503	SO:0001587	stop_gained	10010					cytosol	metal ion binding|protein binding	g.chr2:162087607G>T	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.646G>T	2.37:g.162087607G>T	ENSP00000376505:p.Gly216*					TANK_uc002ubs.2_Nonsense_Mutation_p.G216*	p.G216*	NM_004180	NP_004171	Q92844	TANK_HUMAN			7	804	+			216					D3DPB5|Q7Z4J6|Q92885	Nonsense_Mutation	SNP	ENST00000392749.2	37	c.646G>T	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111088	0.77210	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623	.	.	.	5.78	5.78	0.91487	.	0.054502	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2046	20.3754	0.98918	0.0:0.0:1.0:0.0	.	.	.	.	X	216;216;216;107	.	ENSP00000259075:G216X	G	+	1	0	TANK	161795853	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.770000	0.85390	2.894000	0.99253	0.591000	0.81541	GGA		PASS	0.403	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		6	91	6	91	---	---	---	---
GORASP2	26003	broad.mit.edu	37	2	171822450	171822450	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:171822450C>G	ENST00000234160.4	+	10	1984	c.1169C>G	c.(1168-1170)aCc>aGc	p.T390S	GORASP2_ENST00000452526.2_Missense_Mutation_p.T402S	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	390					mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T390S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CTCCCGCCCACCAGCAACGCA	0.637																																						uc002ugk.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1168-1170)ACC>AGC		golgi reassembly stacking protein 2							100.0	82.0	88.0					2																	171822450		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171822450C>G		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.1169C>G	2.37:g.171822450C>G	ENSP00000234160:p.Thr390Ser					GORASP2_uc002ugj.2_Missense_Mutation_p.T322S|GORASP2_uc010zdl.1_Missense_Mutation_p.T402S|GORASP2_uc010zdm.1_Missense_Mutation_p.T346S|GORASP2_uc002ugl.2_Missense_Mutation_p.T322S|GORASP2_uc002ugm.2_Missense_Mutation_p.T172S	p.T390S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN			10	1309	+			390					B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.1169C>G	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	C	0.912	-0.718742	0.03182	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.42513	0.99;0.97	5.58	3.53	0.40419	.	1.117410	0.06412	N	0.720772	T	0.27313	0.0670	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20887	0.02;0.049;0.02	B;B;B	0.19666	0.016;0.026;0.016	T	0.23868	-1.0176	10	0.07325	T	0.83	2.5397	7.7271	0.28765	0.0:0.7151:0.0:0.2849	.	346;402;390	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	S	390;402	ENSP00000234160:T390S;ENSP00000410208:T402S	ENSP00000234160:T390S	T	+	2	0	GORASP2	171530696	0.000000	0.05858	0.002000	0.10522	0.480000	0.33159	0.761000	0.26489	1.333000	0.45449	0.655000	0.94253	ACC		PASS	0.637	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			8	38	8	38	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174777852	174777852	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:174777852C>A	ENST00000310015.6	-	6	2505	c.1975G>T	c.(1975-1977)Ggt>Tgt	p.G659C	SP3_ENST00000455789.2_Missense_Mutation_p.G606C|SP3_ENST00000418194.2_Missense_Mutation_p.G591C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	659					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.G659C(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AATCTTTTACCACAGTACATC	0.398																																						uc002uig.2																		EWSR1/SP3(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1975-1977)GGT>TGT		Sp3 transcription factor isoform 1							107.0	98.0	101.0					2																	174777852		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777852C>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1975G>T	2.37:g.174777852C>A	ENSP00000310301:p.Gly659Cys					SP3_uc002uie.2_Missense_Mutation_p.G591C|SP3_uc002uif.2_Missense_Mutation_p.G606C|SP3_uc010zel.1_Missense_Mutation_p.G656C	p.G659C	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2139	-			659			C2H2-type 2.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1975G>T	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470164	0.84533	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.73897	-0.79;-0.79;-0.79	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.999	D	0.90884	0.4756	10	0.87932	D	0	.	19.8493	0.96733	0.0:1.0:0.0:0.0	.	656;659;606	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	C	659;606;591	ENSP00000310301:G659C;ENSP00000388903:G606C;ENSP00000406140:G591C	ENSP00000310301:G659C	G	-	1	0	SP3	174486098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.701000	0.92244	0.563000	0.77884	GGT		PASS	0.398	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		5	67	5	67	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098957	178098957	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:178098957G>A	ENST00000397062.3	-	2	642	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30F(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTACTCCAAGATCTATATCT	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		5	Substitution - Missense(5)		lung(3)|oesophagus(1)|skin(1)	central_nervous_system(1)	1						c.(88-90)CTT>TTT		nuclear factor erythroid 2-like 2 isoform 1							68.0	61.0	63.0					2																	178098957		1842	4101	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098957G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.88C>T	2.37:g.178098957G>A	ENSP00000380252:p.Leu30Phe	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.L14F|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14F|NFE2L2_uc002uli.3_Missense_Mutation_p.L14F|NFE2L2_uc010fra.2_Missense_Mutation_p.L14F|NFE2L2_uc010frb.2_Missense_Mutation_p.L14F	p.L30F	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	643	-			30					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.88C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298628	0.81025	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.997	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:0.0:1.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	F	14;30;14;14;14;14;14	ENSP00000380253:L14F;ENSP00000380252:L30F;ENSP00000411575:L14F;ENSP00000391590:L14F;ENSP00000400073:L14F;ENSP00000412191:L14F;ENSP00000410015:L14F	ENSP00000380252:L30F	L	-	1	0	NFE2L2	177807203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.737000	0.93849	0.563000	0.77884	CTT		PASS	0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		11	102	11	102	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179407938	179407938	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:179407938G>T	ENST00000591111.1	-	297	92063	c.91839C>A	c.(91837-91839)acC>acA	p.T30613T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T23381T|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Silent_p.T29686T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T23314T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T23189T|TTN_ENST00000589042.1_Silent_p.T32254T			Q8WZ42	TITIN_HUMAN	titin	30613	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T23314T(1)|p.T29686T(1)|p.T23381T(1)|p.T29684T(1)|p.T23189T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTTTTAAGGTGACAACCT	0.448																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(89056-89058)ACC>ACA		titin isoform N2-A							223.0	213.0	217.0					2																	179407938		1950	4146	6096	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407938G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91839C>A	2.37:g.179407938G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T23381T|TTN_uc010zfi.1_Silent_p.T23314T|TTN_uc010zfj.1_Silent_p.T23189T	p.T29686T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		296	89282	-			30613					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.89058C>A																																																																																					PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	504	14	504	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179416982	179416982	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:179416982G>T	ENST00000591111.1	-	285	85946	c.85722C>A	c.(85720-85722)gtC>gtA	p.V28574V	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.V21342V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.V27647V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.V21275V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.V21150V|TTN_ENST00000589042.1_Silent_p.V30215V			Q8WZ42	TITIN_HUMAN	titin	28574	Ig-like 132.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V27647V(1)|p.V21150V(1)|p.V21342V(1)|p.V21275V(1)|p.V27645V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTAATGGGGACTGCAATTC	0.408																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(82939-82941)GTC>GTA		titin isoform N2-A							118.0	115.0	116.0					2																	179416982		1966	4151	6117	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179416982G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85722C>A	2.37:g.179416982G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V21342V|TTN_uc010zfi.1_Silent_p.V21275V|TTN_uc010zfj.1_Silent_p.V21150V	p.V27647V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	83165	-			28574					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.82941C>A																																																																																					PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	233	22	233	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179438954	179438954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:179438954C>A	ENST00000591111.1	-	276	67206	c.66982G>T	c.(66982-66984)Gga>Tga	p.G22328*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G15096*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G21401*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.G15029*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G14904*|TTN_ENST00000589042.1_Nonsense_Mutation_p.G23969*			Q8WZ42	TITIN_HUMAN	titin	22328	Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G15029*(1)|p.G21399*(1)|p.G21401*(1)|p.G14904*(1)|p.G15096*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCACCGTCCATTAGGAAGG	0.413																																						uc010zfg.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(64201-64203)GGA>TGA		titin isoform N2-A							64.0	61.0	62.0					2																	179438954		1887	4111	5998	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438954C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66982G>T	2.37:g.179438954C>A	ENSP00000465570:p.Gly22328*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.G15096*|TTN_uc010zfi.1_Nonsense_Mutation_p.G15029*|TTN_uc010zfj.1_Nonsense_Mutation_p.G14904*	p.G21401*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	64425	-			22328					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.64201G>T		.	.	.	.	.	.	.	.	.	.	C	62	69.577967	0.99992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7411	0.96231	0.0:1.0:0.0:0.0	.	.	.	.	X	21401;14904;15096;15029;14902	.	ENSP00000340554:G15096X	G	-	1	0	TTN	179147200	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	7.818000	0.86416	2.682000	0.91365	0.555000	0.69702	GGA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	102	18	102	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604870	179604870	+	Missense_Mutation	SNP	C	C	T	rs201506104		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:179604870C>T	ENST00000591111.1	-	46	12363	c.12139G>A	c.(12139-12141)Gtg>Atg	p.V4047M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4193M|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4126M|TTN_ENST00000460472.2_Missense_Mutation_p.V4001M|TTN_ENST00000589042.1_Missense_Mutation_p.V4364M			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V4126M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATTGCCACGGGCTCTCTT	0.448																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12577-12579)GTG>ATG		titin isoform novex-2		C	MET/VAL,,MET/VAL,MET/VAL	3,3703		0,3,1850	70.0	69.0	70.0		12001,,12376,12577	-7.9	0.0	2		70	0,8194		0,0,4097	yes	missense,intron,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,,21,21	0,3,5947	TT,TC,CC		0.0,0.0809,0.0252	,,,	4001/26927,,4126/27052,4193/27119	179604870	3,11897	1853	4097	5950	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604870C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12139G>A	2.37:g.179604870C>T	ENSP00000465570:p.Val4047Met					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V4126M|TTN_uc010zfj.1_Missense_Mutation_p.V4001M|TTN_uc002umz.1_Intron	p.V4193M	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12801	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12577G>A		.	.	.	.	.	.	.	.	.	.	C	2.405	-0.336650	0.05278	8.09E-4	0.0	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59772	0.29;0.25;0.24	5.92	-7.91	0.01165	.	.	.	.	.	T	0.22003	0.0530	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22521	-1.0214	9	0.87932	D	0	.	2.3783	0.04347	0.1665:0.2788:0.3517:0.203	.	4001;4126;4193	D3DPF9;E7EQE6;E7ET18	.;.;.	M	4001;4193;4126;4001	ENSP00000434586:V4001M;ENSP00000340554:V4193M;ENSP00000352154:V4126M	ENSP00000340554:V4193M	V	-	1	0	TTN	179313115	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.088000	0.14979	-1.793000	0.01258	-0.302000	0.09304	GTG		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	163	33	163	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611618	179611618	+	Intron	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:179611618G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.P5170H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTCATTGGGTGTACCAAA	0.408																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15508-15510)CCC>CAC		titin isoform novex-3							114.0	111.0	112.0					2																	179611618		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611618G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4970C>A	2.37:g.179611618G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.P5170H	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15733	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15509C>A		.	.	.	.	.	.	.	.	.	.	G	15.04	2.716494	0.48622	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.62105	0.05	5.95	5.95	0.96441	.	.	.	.	.	T	0.69052	0.3068	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60831	-0.7185	9	0.14656	T	0.56	.	18.5659	0.91116	0.0:0.0:1.0:0.0	.	5170	Q8WZ42-6	.	H	5170;451	ENSP00000354117:P5170H	ENSP00000304714:P451H	P	-	2	0	TTN	179319863	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.318000	0.65829	2.825000	0.97269	0.655000	0.94253	CCC		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	184	8	184	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179614291	179614291	+	Intron	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:179614291C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.G4279V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGATTCTCCCTGGTCTTG	0.373																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12835-12837)GGA>GTA		titin isoform novex-3							61.0	63.0	62.0					2																	179614291		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614291C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3559G>T	2.37:g.179614291C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.G4279V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13060	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12836G>T		.	.	.	.	.	.	.	.	.	.	C	8.458	0.854571	0.17106	.	.	ENSG00000155657	ENST00000360870	T	0.58506	0.33	5.91	-0.438	0.12268	.	.	.	.	.	T	0.37892	0.1020	N	0.19112	0.55	0.09310	N	1	B	0.31548	0.328	B	0.33521	0.165	T	0.25984	-1.0116	9	0.41790	T	0.15	.	5.3464	0.16012	0.0:0.3019:0.2614:0.4367	.	4279	Q8WZ42-6	.	V	4279	ENSP00000354117:G4279V	ENSP00000354117:G4279V	G	-	2	0	TTN	179322536	0.000000	0.05858	0.002000	0.10522	0.291000	0.27294	-0.591000	0.05753	-0.090000	0.12462	0.655000	0.94253	GGA		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	93	21	93	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179736207	179736207	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:179736207G>T	ENST00000420890.2	-	14	2269	c.2152C>A	c.(2152-2154)Cag>Aag	p.Q718K	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q143K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	718								p.Q143K(1)|p.Q718K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAAATGAACTGGAGGCTCCCT	0.388																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(427-429)CAG>AAG		coiled-coil domain containing 141							151.0	152.0	152.0					2																	179736207		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736207G>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2152C>A	2.37:g.179736207G>T	ENSP00000395995:p.Gln718Lys						p.Q143K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		4	484	-			143					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.427C>A		.	.	.	.	.	.	.	.	.	.	G	14.23	2.473588	0.43942	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.48836	0.8;1.41;1.4;1.4	5.79	4.91	0.64330	.	0.441613	0.20402	N	0.093029	T	0.31199	0.0789	L	0.29908	0.895	0.25269	N	0.989531	B	0.33612	0.419	B	0.29785	0.107	T	0.14227	-1.0480	10	0.23302	T	0.38	-7.1153	8.3228	0.32138	0.0818:0.1583:0.7598:0.0	.	143	Q6ZP82	CC141_HUMAN	K	718;162;143;718	ENSP00000395995:Q718K;ENSP00000344627:Q162K;ENSP00000295723:Q143K;ENSP00000390190:Q718K	ENSP00000295723:Q143K	Q	-	1	0	CCDC141	179444452	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.178000	0.42519	1.430000	0.47334	0.557000	0.71058	CAG		PASS	0.388	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		10	289	10	289	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189927594	189927594	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:189927594C>A	ENST00000374866.3	-	29	2248	c.1974G>T	c.(1972-1974)ccG>ccT	p.P658P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	658					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P658P(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACATACCGGCGGGCCCACAG	0.398																																						uc002uqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1972-1974)CCG>CCT		alpha 2 type V collagen preproprotein							66.0	74.0	71.0					2																	189927594		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927594C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1974G>T	2.37:g.189927594C>A						COL5A2_uc010frx.2_Silent_p.P234P	p.P658P	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		29	2249	-			658					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1974G>T	CCDS33350.1																																																																																				PASS	0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		4	66	4	66	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191117026	191117026	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:191117026G>T	ENST00000359678.5	-	8	819	c.525C>A	c.(523-525)ttC>ttA	p.F175L	HIBCH_ENST00000392332.3_Missense_Mutation_p.F175L|HIBCH_ENST00000410045.1_5'Flank	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	175					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)	p.F175L(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCACATCAGGGAACAGTCCTG	0.363																																						uc002uru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)TTC>TTA		3-hydroxyisobutyryl-Coenzyme A hydrolase isoform							59.0	54.0	56.0					2																	191117026		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191117026G>T	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.525C>A	2.37:g.191117026G>T	ENSP00000352706:p.Phe175Leu					HIBCH_uc002urv.2_Missense_Mutation_p.F175L	p.F175L	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		8	608	-			175					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.525C>A	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690998	0.68271	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.71341	-0.04;-0.56;-0.04	5.08	1.22	0.21188	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.969	T	0.76055	-0.3099	10	0.72032	D	0.01	-9.5062	7.8332	0.29355	0.4214:0.0:0.5786:0.0	.	175;175	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	L	175;175;229	ENSP00000376144:F175L;ENSP00000352706:F175L;ENSP00000387247:F229L	ENSP00000352706:F175L	F	-	3	2	HIBCH	190825271	0.959000	0.32827	0.750000	0.31169	0.987000	0.75469	0.106000	0.15354	-0.055000	0.13244	0.467000	0.42956	TTC		PASS	0.363	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			13	22	13	22	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196636525	196636525	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:196636525G>A	ENST00000312428.6	-	61	11392	c.11292C>T	c.(11290-11292)ttC>ttT	p.F3764F	DNAH7_ENST00000409063.1_Silent_p.F247F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3764					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.F3764F(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCGATGTCGAAGTTGTTTG	0.448																																						uc002utj.3																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(10)|ovary(2)	12						c.(11290-11292)TTC>TTT		dynein, axonemal, heavy chain 7							261.0	242.0	248.0					2																	196636525		2013	4163	6176	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196636525G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11292C>T	2.37:g.196636525G>A						DNAH7_uc002uti.3_Silent_p.F247F	p.F3764F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			61	11393	-			3764					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.11292C>T	CCDS42794.1																																																																																				PASS	0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	150	16	150	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197541356	197541356	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:197541356G>A	ENST00000389175.4	+	12	1476	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	CCDC150_ENST00000272831.7_Silent_p.E115E|CCDC150_ENST00000423093.2_Silent_p.E115E|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	447								p.E447E(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCAAAAAGAGCTGCTAGAAT	0.428																																						uc002utp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1339-1341)GAG>GAA		coiled-coil domain containing 150							95.0	91.0	92.0					2																	197541356		1867	4120	5987	SO:0001819	synonymous_variant	284992							g.chr2:197541356G>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1341G>A	2.37:g.197541356G>A						CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Silent_p.E115E	p.E447E	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			12	1476	+			447			Potential.		Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.1341G>A	CCDS46478.1																																																																																				PASS	0.428	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		23	68	23	68	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198948853	198948853	+	Silent	SNP	T	T	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:198948853T>G	ENST00000428675.1	+	2	1010	c.612T>G	c.(610-612)gtT>gtG	p.V204V	PLCL1_ENST00000437704.2_Silent_p.V106V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	204	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.V106V(1)|p.V204V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGGACCTAGTTGCCAATTCAG	0.478																																						uc010fsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(610-612)GTT>GTG		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						111.0	110.0	110.0					2																	198948853		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948853T>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.612T>G	2.37:g.198948853T>G						PLCL1_uc002uuv.3_Silent_p.V125V	p.V204V	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	903	+			204			PH.|Interaction with PPP1C.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.612T>G	CCDS2326.2																																																																																				PASS	0.478	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		12	79	12	79	---	---	---	---
SPATS2L	26010	broad.mit.edu	37	2	201337626	201337626	+	Missense_Mutation	SNP	G	G	T	rs532212641	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:201337626G>T	ENST00000358677.5	+	12	1379	c.1132G>T	c.(1132-1134)Gca>Tca	p.A378S	SPATS2L_ENST00000360760.5_Missense_Mutation_p.A309S|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.A378S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.A386S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.A408S|SPATS2L_ENST00000409988.3_Missense_Mutation_p.A378S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.A318S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.A378S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.A378S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	378						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.A408S(1)|p.A378S(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GAATGCGCACGCAGCAACCTC	0.478																																						uc002uvn.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1132-1134)GCA>TCA		SPATS2-like protein isoform a							80.0	86.0	84.0					2																	201337626		1995	4168	6163	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201337626G>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1132G>T	2.37:g.201337626G>T	ENSP00000351503:p.Ala378Ser					SPATS2L_uc010fst.2_Missense_Mutation_p.A378S|SPATS2L_uc002uvo.3_Missense_Mutation_p.A318S|SPATS2L_uc002uvp.3_Missense_Mutation_p.A378S|SPATS2L_uc002uvq.3_Missense_Mutation_p.A309S|SPATS2L_uc002uvr.3_Missense_Mutation_p.A378S|SPATS2L_uc010zhc.1_Missense_Mutation_p.A408S	p.A378S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			12	1484	+			378					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.1132G>T	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	G	2.284	-0.364118	0.05103	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.25	-3.79	0.04320	.	1.698700	0.02779	N	0.120662	T	0.20333	0.0489	N	0.24115	0.695	0.09310	N	1	B;B;B	0.16396	0.017;0.0;0.004	B;B;B	0.13407	0.009;0.003;0.004	T	0.09684	-1.0663	9	0.38643	T	0.18	0.2985	0.5276	0.00623	0.2845:0.2234:0.2871:0.205	.	408;309;378	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	S	378;378;378;318;378;309;378;408;386	.	ENSP00000351503:A378S	A	+	1	0	SPATS2L	201045871	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.113000	0.10774	-0.570000	0.06022	-0.140000	0.14226	GCA		PASS	0.478	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		6	62	6	62	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201507519	201507519	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:201507519G>C	ENST00000374700.2	+	25	3083	c.2842G>C	c.(2842-2844)Gag>Cag	p.E948Q	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	948					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.E948Q(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTATCCCCTGAGAAGGTAAT	0.488																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2842-2844)GAG>CAG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						65.0	63.0	64.0					2																	201507519		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201507519G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2842G>C	2.37:g.201507519G>C	ENSP00000363832:p.Glu948Gln					AOX1_uc010zhf.1_Missense_Mutation_p.E504Q|AOX1_uc010fsu.2_Missense_Mutation_p.E314Q	p.E948Q	NM_001159	NP_001150	Q06278	ADO_HUMAN			25	2943	+			948					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2842G>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451387	0.43531	.	.	ENSG00000138356	ENST00000374700	T	0.43294	0.95	5.17	4.29	0.51040	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.216366	0.47455	D	0.000232	T	0.59542	0.2201	M	0.91612	3.225	0.53688	D	0.99997	B	0.31931	0.347	B	0.40199	0.322	T	0.66097	-0.6008	10	0.46703	T	0.11	-60.0977	15.912	0.79479	0.0:0.1354:0.8646:0.0	.	948	Q06278	ADO_HUMAN	Q	948	ENSP00000363832:E948Q	ENSP00000363832:E948Q	E	+	1	0	AOX1	201215764	1.000000	0.71417	0.980000	0.43619	0.513000	0.34164	4.206000	0.58473	1.399000	0.46721	0.549000	0.68633	GAG		PASS	0.488	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		7	43	7	43	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210557999	210557999	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:210557999G>A	ENST00000360351.4	+	7	1611	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E365K|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	369					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E369K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTTTAAAATTGAAGAGCCCCA	0.458																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1105-1107)GAA>AAA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						41.0	44.0	43.0					2																	210557999		2201	4299	6500	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210557999G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1105G>A	2.37:g.210557999G>A	ENSP00000353508:p.Glu369Lys					MAP2_uc002vdc.1_Missense_Mutation_p.E369K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E365K	p.E369K	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1353	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	369					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1105G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403327	0.42613	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.41758	2.67;0.99;2.67	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000008	T	0.53883	0.1824	L	0.34521	1.04	0.40166	D	0.977122	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.56159	-0.8025	10	0.87932	D	0	-25.2847	14.7365	0.69419	0.0:0.1438:0.8561:0.0	.	365;369	P11137-3;P11137	.;MAP2_HUMAN	K	369;451;365	ENSP00000353508:E369K;ENSP00000409969:E451K;ENSP00000392164:E365K	ENSP00000353508:E369K	E	+	1	0	MAP2	210266244	0.997000	0.39634	0.961000	0.40146	0.141000	0.21300	2.737000	0.47393	2.775000	0.95449	0.650000	0.86243	GAA		PASS	0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		9	48	9	48	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212251789	212251789	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:212251789T>G	ENST00000342788.4	-	27	3580	c.3270A>C	c.(3268-3270)gaA>gaC	p.E1090D	ERBB4_ENST00000402597.1_Missense_Mutation_p.E1080D|ERBB4_ENST00000436443.1_Missense_Mutation_p.E1074D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1090					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E1090D(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCACAGGAGCTTCTGGAATTG	0.502										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3268-3270)GAA>GAC		v-erb-a erythroblastic leukemia viral oncogene							136.0	134.0	134.0					2																	212251789		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251789T>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3270A>C	2.37:g.212251789T>G	ENSP00000342235:p.Glu1090Asp	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.E1074D|ERBB4_uc010zji.1_Missense_Mutation_p.E1080D|ERBB4_uc010zjj.1_Missense_Mutation_p.E1064D	p.E1090D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3368	-		Renal(323;0.06)|Lung NSC(271;0.197)	1090			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3270A>C	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	7.206	0.594500	0.13875	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75477	-0.93;-0.94;-0.93	5.86	2.2	0.27929	.	0.110450	0.64402	D	0.000014	T	0.48732	0.1516	N	0.08118	0	0.35769	D	0.820738	P;B;B;B	0.50272	0.933;0.0;0.0;0.0	B;B;B;B	0.41510	0.359;0.002;0.001;0.0	T	0.51756	-0.8665	10	0.28530	T	0.3	.	5.7277	0.18022	0.1255:0.1383:0.0:0.7361	.	1064;1080;1074;1090	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1090;1074;1080	ENSP00000342235:E1090D;ENSP00000403204:E1074D;ENSP00000385565:E1080D	ENSP00000342235:E1090D	E	-	3	2	ERBB4	211960034	0.878000	0.30173	1.000000	0.80357	0.056000	0.15407	-0.041000	0.12084	0.140000	0.18849	-0.333000	0.08304	GAA		PASS	0.502	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		9	112	9	112	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216274800	216274800	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr2:216274800G>T	ENST00000359671.1	-	14	2244	c.1979C>A	c.(1978-1980)cCa>cAa	p.P660Q	FN1_ENST00000357867.4_Missense_Mutation_p.P660Q|FN1_ENST00000446046.1_Missense_Mutation_p.P660Q|FN1_ENST00000443816.1_Missense_Mutation_p.P660Q|FN1_ENST00000336916.4_Missense_Mutation_p.P660Q|FN1_ENST00000354785.4_Missense_Mutation_p.P660Q|FN1_ENST00000356005.4_Missense_Mutation_p.P660Q|FN1_ENST00000323926.6_Missense_Mutation_p.P660Q|FN1_ENST00000346544.3_Missense_Mutation_p.P660Q|FN1_ENST00000432072.2_Missense_Mutation_p.P660Q|FN1_ENST00000357009.2_Missense_Mutation_p.P660Q|FN1_ENST00000421182.1_Missense_Mutation_p.P660Q|FN1_ENST00000345488.5_Missense_Mutation_p.P660Q			P02751	FINC_HUMAN	fibronectin 1	660	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.P660Q(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TAAGTGGCCTGGTATGGTAGC	0.458																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1978-1980)CCA>CAA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						139.0	131.0	133.0					2																	216274800		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216274800G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1979C>A	2.37:g.216274800G>T	ENSP00000352696:p.Pro660Gln					FN1_uc002vfb.2_Missense_Mutation_p.P660Q|FN1_uc002vfc.2_Missense_Mutation_p.P660Q|FN1_uc002vfd.2_Missense_Mutation_p.P660Q|FN1_uc002vfe.2_Missense_Mutation_p.P660Q|FN1_uc002vff.2_Missense_Mutation_p.P660Q|FN1_uc002vfg.2_Missense_Mutation_p.P660Q|FN1_uc002vfh.2_Missense_Mutation_p.P660Q|FN1_uc002vfi.2_Missense_Mutation_p.P660Q|FN1_uc002vfj.2_Missense_Mutation_p.P660Q	p.P660Q	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	14	2245	-		Renal(323;0.127)	660			Fibronectin type-III 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1979C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.124364	0.94429	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.75737	0.3890	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.805;0.999;0.999;1.0;0.999;0.999;0.999;0.999	T	0.76408	-0.2970	10	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	660;660;660;660;660;660;660;660;660;660	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	Q	660	ENSP00000394423:P660Q;ENSP00000323534:P660Q;ENSP00000338200:P660Q;ENSP00000350534:P660Q;ENSP00000346839:P660Q;ENSP00000352696:P660Q;ENSP00000265312:P660Q;ENSP00000273049:P660Q;ENSP00000349509:P660Q;ENSP00000410422:P660Q;ENSP00000415018:P660Q;ENSP00000399538:P660Q;ENSP00000348285:P660Q	ENSP00000265313:P660Q	P	-	2	0	FN1	215983045	1.000000	0.71417	0.951000	0.38953	0.975000	0.68041	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	CCA		PASS	0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		5	17	5	17	---	---	---	---
THUMPD3	25917	broad.mit.edu	37	3	9406810	9406810	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:9406810C>A	ENST00000345094.3	+	2	392	c.58C>A	c.(58-60)Cag>Aag	p.Q20K	RP11-380O24.1_ENST00000517846.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.Q20K|RP11-380O24.1_ENST00000491930.2_RNA|RP11-380O24.1_ENST00000518331.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|RP11-380O24.1_ENST00000466431.2_RNA|RP11-380O24.1_ENST00000517687.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.Q20K	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	20						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.Q20K(1)		NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TCATGAGAACCAGAAGTCTGT	0.453																																						uc003bro.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(58-60)CAG>AAG		THUMP domain containing 3							101.0	101.0	101.0					3																	9406810		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9406810C>A	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.58C>A	3.37:g.9406810C>A	ENSP00000339532:p.Gln20Lys					LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.Q20K	p.Q20K	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	2	206	+	Medulloblastoma(99;0.227)		20					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.58C>A	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	C	8.130	0.782971	0.16189	.	.	ENSG00000134077	ENST00000452837;ENST00000417036;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.40225	1.04;1.04;1.04	5.43	2.47	0.30058	.	0.808221	0.11476	N	0.560237	T	0.20170	0.0485	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21655	-1.0239	10	0.23302	T	0.38	0.3467	5.8676	0.18783	0.1466:0.6383:0.1341:0.081	.	20	Q9BV44	THUM3_HUMAN	K	20	ENSP00000395893:Q20K;ENSP00000339532:Q20K;ENSP00000424064:Q20K	ENSP00000339532:Q20K	Q	+	1	0	THUMPD3	9381810	0.001000	0.12720	0.051000	0.19133	0.716000	0.41182	0.378000	0.20569	0.686000	0.31488	0.655000	0.94253	CAG		PASS	0.453	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		5	78	5	78	---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15116107	15116107	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:15116107C>T	ENST00000253699.3	-	14	2150	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E513K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	513	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E513K(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCCTCCTCCTCAGCCTGCCTC	0.612																																						uc003bzm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1537-1539)GAG>AAG		FYVE-finger-containing Rab5 effector protein							87.0	85.0	86.0					3																	15116107		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15116107C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1537G>A	3.37:g.15116107C>T	ENSP00000253699:p.Glu513Lys					ZFYVE20_uc010hek.1_Missense_Mutation_p.E513K	p.E513K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			14	2151	-			513			UIM.|Potential.|Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1537G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040186	0.75732	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.57107	0.42;0.42	5.68	5.68	0.88126	.	0.165528	0.52532	D	0.000066	T	0.53222	0.1783	M	0.61703	1.905	0.80722	D	1	B	0.33549	0.417	B	0.28553	0.091	T	0.57528	-0.7796	10	0.72032	D	0.01	-29.6779	19.7987	0.96497	0.0:1.0:0.0:0.0	.	513	Q9H1K0	RBNS5_HUMAN	K	513	ENSP00000253699:E513K;ENSP00000422551:E513K	ENSP00000253699:E513K	E	-	1	0	ZFYVE20	15091111	0.995000	0.38212	0.987000	0.45799	0.538000	0.34931	3.267000	0.51577	2.671000	0.90904	0.561000	0.74099	GAG		PASS	0.612	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		30	34	30	34	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62452069	62452069	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:62452069A>G	ENST00000383710.4	-	25	3846	c.3497T>C	c.(3496-3498)aTa>aCa	p.I1166T	CADPS_ENST00000283269.9_Missense_Mutation_p.I1127T|CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000357948.3_Missense_Mutation_p.I1087T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1166					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I1127T(1)|p.I1166T(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGTTCGTCTATTTTTGAATG	0.358																																						uc003dll.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(3496-3498)ATA>ACA		Ca2+-dependent secretion activator isoform 1							163.0	164.0	164.0					3																	62452069		2203	4299	6502	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62452069A>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3497T>C	3.37:g.62452069A>G	ENSP00000373215:p.Ile1166Thr					CADPS_uc003dlj.1_Missense_Mutation_p.I121T|CADPS_uc003dlk.1_Missense_Mutation_p.I614T|CADPS_uc003dlm.2_Missense_Mutation_p.I1127T|CADPS_uc003dln.2_Missense_Mutation_p.I1087T	p.I1166T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	25	3857	-		Lung SC(41;0.0452)	1166					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3497T>C	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.23|17.23	3.336716|3.336716	0.60963|0.60963	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.34072|.	1.38;1.38;1.38|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72985|.	0.3529|.	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.96;0.993;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.948;0.977;0.982|.	T|.	0.72253|.	-0.4347|.	10|.	0.44086|.	T|.	0.13|.	.|.	16.0663|16.0663	0.80878|0.80878	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1087;1127;1166;1171|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	T|Q	1172;1166;1087;1127|158	ENSP00000373215:I1166T;ENSP00000350632:I1087T;ENSP00000283269:I1127T|.	ENSP00000283269:I1127T|.	I|X	-|-	2|1	0|0	CADPS|CADPS	62427109|62427109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.962000|8.962000	0.93254|0.93254	2.201000|2.201000	0.70794|0.70794	0.533000|0.533000	0.62120|0.62120	ATA|TAG		PASS	0.358	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		12	19	12	19	---	---	---	---
SUCLG2	8801	broad.mit.edu	37	3	67426195	67426195	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:67426195C>A	ENST00000307227.5	-	11	1299	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	SUCLG2_ENST00000493112.1_Intron	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	424					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.K424N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TGGCCACAGCCTTCTTGGCTG	0.488																																						uc003dna.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1270-1272)AAG>AAT		succinate-CoA ligase, GDP-forming beta subunit	Succinic acid(DB00139)						63.0	62.0	63.0					3																	67426195		1942	4150	6092	SO:0001583	missense	8801				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr3:67426195C>A	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.1272G>T	3.37:g.67426195C>A	ENSP00000307432:p.Lys424Asn					SUCLG2_uc010hob.2_Missense_Mutation_p.K171N	p.K424N	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	11	1300	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	424					C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	c.1272G>T	CCDS43104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.674256|2.674256	0.47781|0.47781	.|.	.|.	ENSG00000172340|ENSG00000172340	ENST00000460567|ENST00000307227;ENST00000541608	.|T	.|0.68181	.|-0.31	5.38|5.38	-0.932|-0.932	0.10435|0.10435	.|Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80675|0.80675	0.4668|0.4668	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.994	.|D;D	.|0.79784	.|0.981;0.993	T|T	0.80525|0.80525	-0.1344|-0.1344	5|10	.|0.87932	.|D	.|0	.|.	10.2599|10.2599	0.43421|0.43421	0.0:0.3821:0.0:0.6179|0.0:0.3821:0.0:0.6179	.|.	.|242;424	.|F5H4S7;Q96I99	.|.;SUCB2_HUMAN	C|N	182|424;242	.|ENSP00000307432:K424N	.|ENSP00000307432:K424N	G|K	-|-	1|3	0|2	SUCLG2|SUCLG2	67508885|67508885	0.914000|0.914000	0.31030|0.31030	0.994000|0.994000	0.49952|0.49952	0.984000|0.984000	0.73092|0.73092	-0.058000|-0.058000	0.11750|0.11750	-0.152000|-0.152000	0.11156|0.11156	-0.251000|-0.251000	0.11542|0.11542	GGC|AAG		PASS	0.488	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		12	15	12	15	---	---	---	---
GXYLT2	727936	broad.mit.edu	37	3	72971411	72971411	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:72971411C>T	ENST00000389617.4	+	3	686	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	175					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.I175I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TCTACCCCATCACATTTTCTG	0.453																																						uc003dpg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)ATC>ATT		glycosyltransferase 8 domain containing 4							216.0	220.0	219.0					3																	72971411		1863	4111	5974	SO:0001819	synonymous_variant	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:72971411C>T	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.525C>T	3.37:g.72971411C>T							p.I175I	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			3	525	+			175			Lumenal (Potential).			Silent	SNP	ENST00000389617.4	37	c.525C>T	CCDS46870.1																																																																																				PASS	0.453	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		58	118	58	118	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89521662	89521662	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:89521662C>T	ENST00000336596.2	+	16	2964	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	EPHA3_ENST00000494014.1_Silent_p.F913F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	913	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.F913F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCACTACCTTCCGCACAACAG	0.468										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - coding silent(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2737-2739)TTC>TTT		ephrin receptor EphA3 isoform a precursor							183.0	172.0	176.0					3																	89521662		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521662C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2739C>T	3.37:g.89521662C>T		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.F913F	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	2964	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	913			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2739C>T	CCDS2922.1																																																																																				PASS	0.468	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		23	77	23	77	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107429440	107429440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:107429440G>T	ENST00000325805.8	+	4	420	c.133G>T	c.(133-135)Gag>Tag	p.E45*	BBX_ENST00000416476.2_Nonsense_Mutation_p.E45*|BBX_ENST00000406780.1_Nonsense_Mutation_p.E45*|BBX_ENST00000415149.2_Nonsense_Mutation_p.E45*|BBX_ENST00000402543.1_Nonsense_Mutation_p.E45*			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	45	Poly-Glu.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E45*(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			agaggaagaagaggaagacga	0.373																																						uc010hpr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(133-135)GAG>TAG		HMG-BOX transcription factor BBX isoform 1							76.0	72.0	73.0					3																	107429440		2203	4300	6503	SO:0001587	stop_gained	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107429440G>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.133G>T	3.37:g.107429440G>T	ENSP00000319974:p.Glu45*					BBX_uc003dwk.3_Nonsense_Mutation_p.E45*|BBX_uc003dwl.3_Nonsense_Mutation_p.E45*|BBX_uc010hps.1_Nonsense_Mutation_p.E66*|BBX_uc003dwm.3_Nonsense_Mutation_p.E45*	p.E45*	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		4	460	+			45			Poly-Glu.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Nonsense_Mutation	SNP	ENST00000325805.8	37	c.133G>T	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957225	0.97964	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000457496;ENST00000429270	.	.	.	5.66	5.66	0.87406	.	0.614685	0.17404	N	0.175452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.0099	19.7304	0.96180	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000319974:E45X	E	+	1	0	BBX	108912130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.101000	0.94219	2.836000	0.97738	0.650000	0.86243	GAG		PASS	0.373	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		5	47	5	47	---	---	---	---
CASR	846	broad.mit.edu	37	3	121973103	121973103	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:121973103G>A	ENST00000490131.1	+	2	439	c.67G>A	c.(67-69)Gac>Aac	p.D23N	CASR_ENST00000296154.5_Missense_Mutation_p.D23N|CASR_ENST00000498619.1_Missense_Mutation_p.D23N	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	23					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D23N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTACGGGCCAGACCAGCGAGC	0.537																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(67-69)GAC>AAC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						94.0	96.0	96.0					3																	121973103		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121973103G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.67G>A	3.37:g.121973103G>A	ENSP00000418685:p.Asp23Asn					CASR_uc003eew.3_Missense_Mutation_p.D23N	p.D23N	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	2	439	+			23			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.67G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011477	0.19277	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88664	-2.41;-2.41;-2.41	5.28	5.28	0.74379	.	0.239688	0.48767	D	0.000165	T	0.71341	0.3328	N	0.02315	-0.6	0.40592	D	0.981498	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.68469	-0.5400	10	0.10111	T	0.7	.	11.7378	0.51775	0.0899:0.0:0.9101:0.0	.	23;23	E7ENE0;P41180	.;CASR_HUMAN	N	23	ENSP00000418685:D23N;ENSP00000420194:D23N;ENSP00000296154:D23N	ENSP00000296154:D23N	D	+	1	0	CASR	123455793	0.998000	0.40836	1.000000	0.80357	0.497000	0.33675	2.396000	0.44468	2.652000	0.90054	0.558000	0.71614	GAC		PASS	0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		34	117	34	117	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133362168	133362168	+	Missense_Mutation	SNP	G	G	A	rs374554497		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:133362168G>A	ENST00000260810.5	-	12	2028	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	633	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L633F(1)|p.L546F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGTGTGAAGAGAGGATTCGAC	0.373								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(1897-1899)CTC>TTC	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							83.0	78.0	80.0					3																	133362168		1863	4102	5965	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133362168G>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1897C>T	3.37:g.133362168G>A	ENSP00000260810:p.Leu633Phe						p.L633F	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			12	2029	-			633			BRCT 4.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.1897C>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097402	0.76870	.	.	ENSG00000163781	ENST00000260810	T	0.16897	2.31	5.86	4.98	0.66077	BRCT (2);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.66939	2.045	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.35076	-0.9803	10	0.56958	D	0.05	.	16.9902	0.86351	0.0:0.1275:0.8725:0.0	.	633	Q92547	TOPB1_HUMAN	F	633	ENSP00000260810:L633F	ENSP00000260810:L633F	L	-	1	0	TOPBP1	134844858	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.219000	0.72231	1.462000	0.47948	0.655000	0.94253	CTC		PASS	0.373	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		5	66	5	66	---	---	---	---
TMEM44	93109	broad.mit.edu	37	3	194309345	194309345	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr3:194309345G>T	ENST00000392432.2	-	11	1546	c.1341C>A	c.(1339-1341)ctC>ctA	p.L447L	TMEM44_ENST00000347147.4_Silent_p.L400L|TMEM44_ENST00000273580.7_Silent_p.L411L|TMEM44_ENST00000381975.3_3'UTR|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44-AS1_ENST00000453671.1_RNA|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000473092.1_Silent_p.L410L	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	447						integral component of membrane (GO:0016021)		p.L411L(1)|p.L447L(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		TGCTGCCTTCGAGGTTCACAT	0.507																																						uc010hzn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1339-1341)CTC>CTA		transmembrane protein 44 isoform b							165.0	159.0	161.0					3																	194309345		2203	4300	6503	SO:0001819	synonymous_variant	93109					integral to membrane		g.chr3:194309345G>T	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1341C>A	3.37:g.194309345G>T						TMEM44_uc010hzm.2_3'UTR|TMEM44_uc003fuc.2_Silent_p.L132L|TMEM44_uc003fue.2_Silent_p.L400L|TMEM44_uc003fud.2_Silent_p.L411L|TMEM44_uc003fuf.2_3'UTR|TMEM44_uc011bsv.1_Silent_p.L410L|uc003fug.2_5'Flank	p.L447L	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	11	1510	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		447			Cytoplasmic (Potential).		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	c.1341C>A	CCDS54699.1																																																																																				PASS	0.507	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		6	124	6	124	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3105586	3105586	+	Silent	SNP	C	C	A	rs200331534		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:3105586C>A	ENST00000355072.5	+	4	649	c.504C>A	c.(502-504)ctC>ctA	p.L168L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	168					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.L168L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGTTACAGCTCGAGCTCTATA	0.323																																						uc011bvq.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(508-510)CTC>CTA		huntingtin							174.0	156.0	161.0					4																	3105586		1812	4073	5885	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3105586C>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.504C>A	4.37:g.3105586C>A							p.L170L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	5	655	+		all_epithelial(65;0.18)	168					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.510C>A	CCDS43206.1																																																																																				PASS	0.323	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		4	92	4	92	---	---	---	---
PSAPL1	768239	broad.mit.edu	37	4	7435209	7435209	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:7435209C>A	ENST00000319098.4	-	1	1491	c.1398G>T	c.(1396-1398)gtG>gtT	p.V466V	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	466	Saposin B-type 4. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.V466V(1)|p.V198V(1)		lung(4)	4						GGCAGGCCCCCACCTTCTTGC	0.632																																						uc011bwj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1396-1398)GTG>GTT		prosaposin-like protein 1							21.0	24.0	23.0					4																	7435209		2011	4169	6180	SO:0001819	synonymous_variant	768239				sphingolipid metabolic process	extracellular region|lysosome		g.chr4:7435209C>A	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.1398G>T	4.37:g.7435209C>A						SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	p.V466V	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN			1	1492	-			466			Saposin B-type 4.		A0A184|Q8N7T4	Silent	SNP	ENST00000319098.4	37	c.1398G>T	CCDS47009.1																																																																																				PASS	0.632	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			3	3	3	3	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13604824	13604824	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:13604824C>G	ENST00000040738.5	-	10	3835	c.3700G>C	c.(3700-3702)Gat>Cat	p.D1234H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1234						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D1234H(1)									GTTTCAGAATCTATATTCACT	0.393																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(3700-3702)GAT>CAT		biorientation of chromosomes in cell division							108.0	110.0	109.0					4																	13604824		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604824C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3700G>C	4.37:g.13604824C>G	ENSP00000040738:p.Asp1234His					BOD1L_uc010idr.1_Missense_Mutation_p.D571H	p.D1234H	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	3817	-			1234					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3700G>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762159	0.49468	.	.	ENSG00000038219	ENST00000040738	T	0.08807	3.05	5.54	3.8	0.43715	.	0.409349	0.20997	N	0.081938	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.54060	0.741	T	0.07673	-1.0760	10	0.48119	T	0.1	-1.1502	9.8787	0.41220	0.0:0.8422:0.0:0.1578	.	1234	Q8NFC6	BOD1L_HUMAN	H	1234	ENSP00000040738:D1234H	ENSP00000040738:D1234H	D	-	1	0	BOD1L	13213922	0.001000	0.12720	0.008000	0.14137	0.022000	0.10575	0.822000	0.27352	1.330000	0.45394	0.655000	0.94253	GAT		PASS	0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		25	68	25	68	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16900050	16900050	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:16900050C>G	ENST00000304523.5	-	1	382	c.59G>C	c.(58-60)aGg>aCg	p.R20T	LDB2_ENST00000502640.1_Missense_Mutation_p.R20T|LDB2_ENST00000515064.1_Missense_Mutation_p.R20T|LDB2_ENST00000441778.2_Missense_Mutation_p.R20T	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	20					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.R20T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGTGTATGCCTCCTATAAAA	0.453																																						uc003goz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(58-60)AGG>ACG		LIM domain binding 2 isoform a							195.0	173.0	180.0					4																	16900050		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16900050C>G	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.59G>C	4.37:g.16900050C>G	ENSP00000306772:p.Arg20Thr					LDB2_uc003gpa.2_Missense_Mutation_p.R20T|LDB2_uc003gpb.2_Missense_Mutation_p.R20T|LDB2_uc011bxh.1_Missense_Mutation_p.R20T|LDB2_uc010iee.2_Missense_Mutation_p.R20T	p.R20T	NM_001290	NP_001281	O43679	LDB2_HUMAN			1	375	-			20					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.59G>C	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492501	0.84962	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.991	D;D;D;D	0.91635	0.98;0.999;0.991;0.992	T	0.79928	-0.1596	9	0.72032	D	0.01	-10.7982	17.3952	0.87443	0.0:1.0:0.0:0.0	.	20;20;20;20	E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;LDB2_HUMAN	T	20	.	ENSP00000306772:R20T	R	-	2	0	LDB2	16509148	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.349000	0.79376	2.325000	0.78763	0.460000	0.39030	AGG		PASS	0.453	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			8	48	8	48	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47667122	47667122	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:47667122G>T	ENST00000273857.4	-	11	1515	c.1516C>A	c.(1516-1518)Ctc>Atc	p.L506I	CORIN_ENST00000502252.1_Missense_Mutation_p.L439I|CORIN_ENST00000504584.1_Missense_Mutation_p.L469I|CORIN_ENST00000505909.1_Missense_Mutation_p.L469I|CORIN_ENST00000508498.1_Missense_Mutation_p.L367I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	506	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.L506I(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAACATGAGGTATTTATAA	0.423																																						uc003gxm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1516-1518)CTC>ATC		corin							104.0	106.0	105.0					4																	47667122		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47667122G>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1516C>A	4.37:g.47667122G>T	ENSP00000273857:p.Leu506Ile					CORIN_uc011bzf.1_Missense_Mutation_p.L367I|CORIN_uc011bzg.1_Missense_Mutation_p.L439I|CORIN_uc011bzh.1_Missense_Mutation_p.L469I|CORIN_uc011bzi.1_Missense_Mutation_p.L469I	p.L506I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			11	1609	-			506			Extracellular (Potential).|FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1516C>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519954	0.85495	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.25	5.25	0.73442	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.52266	1.64	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.999	T	0.78940	-0.2006	10	0.27082	T	0.32	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	469;469;439;506	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	I	506;367;439;469;469	ENSP00000273857:L506I;ENSP00000425597:L367I;ENSP00000424212:L439I;ENSP00000425401:L469I;ENSP00000423216:L469I	ENSP00000273857:L506I	L	-	1	0	CORIN	47361879	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.853000	0.92222	2.729000	0.93468	0.650000	0.86243	CTC		PASS	0.423	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			6	100	6	100	---	---	---	---
AFP	174	broad.mit.edu	37	4	74301996	74301996	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:74301996C>T	ENST00000395792.2	+	1	117	c.17C>T	c.(16-18)tCa>tTa	p.S6L	AFP_ENST00000226359.2_Missense_Mutation_p.S6L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	6					ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.S6L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGGTGGAATCAATTTTTTTA	0.318									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)TCA>TTA		alpha-fetoprotein precursor							60.0	65.0	63.0					4																	74301996		2203	4296	6499	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74301996C>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.17C>T	4.37:g.74301996C>T	ENSP00000379138:p.Ser6Leu					AFP_uc003hha.1_Missense_Mutation_p.S6L|AFP_uc003hgy.1_Intron	p.S6L	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	64	+	Breast(15;0.00102)		6					B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.17C>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	C	3.764	-0.048993	0.07407	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.54866	0.56;0.55	5.41	4.57	0.56435	.	0.748815	0.12565	N	0.457818	T	0.38532	0.1044	L	0.39633	1.23	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.33624	-0.9861	10	0.02654	T	1	-2.1018	9.9674	0.41732	0.0:0.9097:0.0:0.0903	.	6	P02771	FETA_HUMAN	L	6	ENSP00000379138:S6L;ENSP00000226359:S6L	ENSP00000226359:S6L	S	+	2	0	AFP	74520860	0.005000	0.15991	0.021000	0.16686	0.886000	0.51366	1.658000	0.37376	1.533000	0.49186	-0.140000	0.14226	TCA		PASS	0.318	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			7	40	7	40	---	---	---	---
AFP	174	broad.mit.edu	37	4	74302032	74302032	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:74302032C>G	ENST00000395792.2	+	1	153	c.53C>G	c.(52-54)tCc>tGc	p.S18C	AFP_ENST00000226359.2_Missense_Mutation_p.S18C	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	18					ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.S18C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTACTGAATCCAGAACACTG	0.284									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)TCC>TGC		alpha-fetoprotein precursor							57.0	63.0	61.0					4																	74302032		2203	4298	6501	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74302032C>G	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.53C>G	4.37:g.74302032C>G	ENSP00000379138:p.Ser18Cys					AFP_uc003hha.1_Missense_Mutation_p.S18C|AFP_uc003hgy.1_Intron	p.S18C	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	100	+	Breast(15;0.00102)		18					B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.53C>G	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322994	0.60634	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.61742	0.09;0.08	5.29	5.29	0.74685	.	0.302828	0.31963	N	0.006798	T	0.72732	0.3497	M	0.73217	2.22	0.34356	D	0.690471	D	0.76494	0.999	D	0.64595	0.927	T	0.81411	-0.0945	10	0.87932	D	0	-13.263	14.3164	0.66454	0.0:1.0:0.0:0.0	.	18	P02771	FETA_HUMAN	C	18	ENSP00000379138:S18C;ENSP00000226359:S18C	ENSP00000226359:S18C	S	+	2	0	AFP	74520896	0.513000	0.26194	0.993000	0.49108	0.987000	0.75469	1.739000	0.38217	2.756000	0.94617	0.655000	0.94253	TCC		PASS	0.284	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			6	33	6	33	---	---	---	---
AREG	374	broad.mit.edu	37	4	75312365	75312365	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:75312365C>T	ENST00000395748.3	+	2	388	c.176C>T	c.(175-177)tCa>tTa	p.S59L	AREG_ENST00000502307.1_Missense_Mutation_p.S59L|AREG_ENST00000264487.2_Missense_Mutation_p.S59L	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	59					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)	p.S59L(1)		lung(4)	4			Lung(101;0.196)			GAGATGTCTTCAGGGAGTGAG	0.483																																						uc011cbl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)TCA>TTA		amphiregulin preproprotein							18.0	27.0	24.0					4																	75312365		2068	4237	6305	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312365C>T	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.176C>T	4.37:g.75312365C>T	ENSP00000379097:p.Ser59Leu						p.S59L	NM_001657	NP_001648	P15514	AREG_HUMAN	Lung(101;0.196)		2	386	+			59					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.176C>T	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	C	6.098	0.386268	0.11524	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.15834	2.39;2.39;2.49	3.53	0.0335	0.14179	.	1.561940	0.03952	N	0.288733	T	0.16128	0.0388	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30001	-0.9993	10	0.45353	T	0.12	1.2779	3.242	0.06784	0.0:0.4496:0.2122:0.3382	.	59	P15514	AREG_HUMAN	L	59	ENSP00000379097:S59L;ENSP00000264487:S59L;ENSP00000421414:S59L	ENSP00000264487:S59L	S	+	2	0	AREG	75531229	0.005000	0.15991	0.000000	0.03702	0.089000	0.18198	0.019000	0.13444	-0.028000	0.13850	0.557000	0.71058	TCA		PASS	0.483	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			47	33	47	33	---	---	---	---
COPS4	51138	broad.mit.edu	37	4	83996472	83996472	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:83996472G>T	ENST00000264389.2	+	10	1245	c.1110G>T	c.(1108-1110)tgG>tgT	p.W370C	COPS4_ENST00000509093.1_Missense_Mutation_p.G342V|COPS4_ENST00000503682.1_Missense_Mutation_p.W402C|COPS4_ENST00000511653.1_Nonsense_Mutation_p.G420*	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	370					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.W370C(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGCCAACGTGGGATAAGCAGA	0.383																																						uc003hoa.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1108-1110)TGG>TGT		COP9 signalosome subunit 4							81.0	79.0	80.0					4																	83996472		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83996472G>T	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.1110G>T	4.37:g.83996472G>T	ENSP00000264389:p.Trp370Cys					COPS4_uc003hob.2_Nonsense_Mutation_p.G420*|COPS4_uc010ijw.2_Missense_Mutation_p.W402C|COPS4_uc010ijx.2_Missense_Mutation_p.G342V	p.W370C	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			10	1249	+		Hepatocellular(203;0.114)	370					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.1110G>T	CCDS3600.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.268063|5.268063|5.268063	0.95429|0.95429|0.95429	.|.|.	.|.|.	ENSG00000138663|ENSG00000138663|ENSG00000138663	ENST00000509093|ENST00000511653|ENST00000264389;ENST00000509317;ENST00000503682	T|.|T;T;T	0.39787|.|0.58652	1.06|.|0.32;0.32;0.41	6.08|6.08|6.08	6.08|6.08|6.08	0.98989|0.98989|0.98989	.|.|Proteasome component (PCI) domain (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|.|T	0.80529|.|0.80529	0.4640|.|0.4640	M|M|M	0.84683|0.84683|0.84683	2.71|2.71|2.71	0.29276|0.29276|0.29276	N|N|N	0.870346|0.870346|0.870346	B|.|D;D	0.02656|.|0.89917	0.0|.|1.0;1.0	B|.|D;D	0.01281|.|0.80764	0.0|.|0.994;0.99	T|.|T	0.76942|.|0.76942	-0.2772|.|-0.2772	9|.|10	0.87932|0.87932|0.87932	D|D|D	0|0|0	-6.1315|-6.1315|-6.1315	20.6721|20.6721|20.6721	0.99693|0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	342|.|402;370	B3KST5|.|D6RFN0;Q9BT78	.|.|.;CSN4_HUMAN	V|X|C	342|420|370;258;402	ENSP00000425976:G342V|.|ENSP00000264389:W370C;ENSP00000425486:W258C;ENSP00000424791:W402C	ENSP00000425976:G342V|ENSP00000424655:G420X|ENSP00000264389:W370C	G|G|W	+|+|+	2|1|3	0|0|0	COPS4|COPS4|COPS4	84215496|84215496|84215496	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	9.352000|9.352000|9.352000	0.97076|0.97076|0.97076	2.894000|2.894000|2.894000	0.99253|0.99253|0.99253	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GGG|GGA|TGG		PASS	0.383	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			5	41	5	41	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87690984	87690984	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:87690984G>A	ENST00000411767.2	+	29	4615	c.4552G>A	c.(4552-4554)Gaa>Aaa	p.E1518K	PTPN13_ENST00000427191.2_Missense_Mutation_p.E1499K|PTPN13_ENST00000436978.1_Missense_Mutation_p.E1523K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1523K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1327K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1518	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E1523K(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTTTTCTCGAGAAGATAATCT	0.318																																						uc003hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(4552-4554)GAA>AAA		protein tyrosine phosphatase, non-receptor type							59.0	58.0	58.0					4																	87690984		1811	4075	5886	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87690984G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4552G>A	4.37:g.87690984G>A	ENSP00000407249:p.Glu1518Lys					PTPN13_uc003hpy.2_Missense_Mutation_p.E1523K|PTPN13_uc003hqa.2_Missense_Mutation_p.E1499K|PTPN13_uc003hqb.2_Missense_Mutation_p.E1327K|PTPN13_uc003hqc.1_5'UTR	p.E1518K	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	29	5032	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1518			PDZ 3.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.4552G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904705	0.92035	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.51477	D	0.000093	T	0.36608	0.0973	N	0.13299	0.325	0.58432	D	0.999999	D;D;D;D	0.89917	0.995;0.995;1.0;0.997	P;D;D;D	0.97110	0.894;0.988;1.0;0.995	T	0.04551	-1.0943	10	0.05525	T	0.97	.	19.9357	0.97140	0.0:0.0:1.0:0.0	.	1327;1499;1518;1523	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	1499;1523;1327;1518;1523;1467	ENSP00000408368:E1499K;ENSP00000394794:E1523K;ENSP00000322675:E1327K;ENSP00000407249:E1518K;ENSP00000426626:E1523K	ENSP00000322675:E1327K	E	+	1	0	PTPN13	87910008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.290000	0.78711	2.715000	0.92844	0.655000	0.94253	GAA		PASS	0.318	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	57	6	57	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	87967424	87967424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:87967424G>T	ENST00000307808.6	+	2	544	c.124G>T	c.(124-126)Gga>Tga	p.G42*	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Nonsense_Mutation_p.G49*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	42					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G49*(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCCCTTTTTGGAGAGCCCTA	0.408																																						uc003hqj.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(124-126)GGA>TGA		myeloid/lymphoid or mixed-lineage leukemia							124.0	125.0	124.0					4																	87967424		2203	4300	6503	SO:0001587	stop_gained	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967424G>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.124G>T	4.37:g.87967424G>T	ENSP00000305689:p.Gly42*					AFF1_uc011ccx.1_Intron|AFF1_uc003hqh.1_Nonsense_Mutation_p.G49*|AFF1_uc011ccy.1_Nonsense_Mutation_p.G49*|AFF1_uc011ccz.1_Nonsense_Mutation_p.G49*|AFF1_uc003hqk.3_Nonsense_Mutation_p.G42*|AFF1_uc011cda.1_Intron	p.G42*	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	2	531	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	42					B4DTU1|E9PBM3	Nonsense_Mutation	SNP	ENST00000307808.6	37	c.124G>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724539	0.96847	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	.	.	.	5.73	4.88	0.63580	.	0.354587	0.26255	N	0.025429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.1276	16.439	0.83894	0.0:0.3616:0.6383:0.0	.	.	.	.	X	49;49;49;49;42	.	ENSP00000305689:G42X	G	+	1	0	AFF1	88186448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.787000	0.47798	1.526000	0.49068	0.655000	0.94253	GGA		PASS	0.408	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		7	130	7	130	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89317227	89317227	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:89317227C>A	ENST00000264346.7	+	6	879	c.820C>A	c.(820-822)Cct>Act	p.P274T	HERC6_ENST00000273960.3_Missense_Mutation_p.P274T|HERC6_ENST00000380265.5_Missense_Mutation_p.P274T	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	274					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P274T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGCCCCACTCCTGAGAAGAG	0.428																																						uc011cdi.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|kidney(1)	5						c.(820-822)CCT>ACT		hect domain and RLD 6 isoform 1							101.0	101.0	101.0					4																	89317227		1894	4121	6015	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89317227C>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.820C>A	4.37:g.89317227C>A	ENSP00000264346:p.Pro274Thr					HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.P274T|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.P274T	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	6	1003	+		Hepatocellular(203;0.114)	274			RCC1 5.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.820C>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903806	0.33628	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84298	-1.83;-1.25;-1.83	4.59	-1.99	0.07457	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.960210	0.02254	N	0.066919	T	0.62780	0.2456	N	0.02412	-0.56	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.15484	0.008;0.013	T	0.54289	-0.8316	10	0.26408	T	0.33	.	1.3137	0.02102	0.4165:0.2613:0.1848:0.1374	.	274;274	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	T	274	ENSP00000369617:P274T;ENSP00000273960:P274T;ENSP00000264346:P274T	ENSP00000264346:P274T	P	+	1	0	HERC6	89536250	0.000000	0.05858	0.000000	0.03702	0.811000	0.45836	0.567000	0.23608	-0.208000	0.10171	-0.479000	0.04858	CCT		PASS	0.428	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			21	53	21	53	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107229955	107229955	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:107229955G>T	ENST00000273980.5	-	3	610	c.163C>A	c.(163-165)Cag>Aag	p.Q55K	TBCK_ENST00000394706.3_Missense_Mutation_p.Q55K|TBCK_ENST00000361687.4_Missense_Mutation_p.Q55K|TBCK_ENST00000432496.2_Missense_Mutation_p.Q55K|TBCK_ENST00000394708.2_Missense_Mutation_p.Q55K					TBC1 domain containing kinase									p.Q55K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCCACATACTGGCAGAGTCTG	0.363																																						uc010ilv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(163-165)CAG>AAG		TBC domain-containing protein kinase-like							133.0	140.0	138.0					4																	107229955		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107229955G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.163C>A	4.37:g.107229955G>T	ENSP00000273980:p.Gln55Lys					TBCK_uc003hye.2_Missense_Mutation_p.Q55K|TBCK_uc003hyc.2_Missense_Mutation_p.Q55K|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.Q55K	p.Q55K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			2	528	-			55			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.163C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396071	0.83011	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862;ENST00000507696	T;T;T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051946	0.85682	D	0.000000	T	0.15132	0.0365	L	0.31207	0.915	0.80722	D	1	P;D;D	0.58620	0.866;0.971;0.983	P;P;P	0.56434	0.593;0.631;0.798	T	0.09185	-1.0686	10	0.23302	T	0.38	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	55;55;55	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	K	55	ENSP00000273980:Q55K;ENSP00000405847:Q55K;ENSP00000355338:Q55K;ENSP00000378196:Q55K;ENSP00000378198:Q55K;ENSP00000420985:Q55K;ENSP00000425197:Q55K;ENSP00000423637:Q55K	ENSP00000273980:Q55K	Q	-	1	0	TBCK	107449404	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.549000	0.85964	0.591000	0.81541	CAG		PASS	0.363	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		5	65	5	65	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121966917	121966917	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:121966917C>T	ENST00000379692.4	-	2	602	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	26					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.D26N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGTTCCTCATCCCGGGTGGGT	0.478																																						uc003idq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)GAT>AAT		hypothetical protein LOC79625 precursor							53.0	54.0	54.0					4																	121966917		1924	4144	6068	SO:0001583	missense	79625							g.chr4:121966917C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.76G>A	4.37:g.121966917C>T	ENSP00000369014:p.Asp26Asn						p.D26N	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			2	603	-			26					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.76G>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	33	5.279045	0.95489	.	.	ENSG00000173376	ENST00000379692;ENST00000515757;ENST00000511408	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.69967	-0.5001	9	0.24483	T	0.36	-22.4389	19.8965	0.96963	0.0:1.0:0.0:0.0	.	26	Q8TB73	NDNF_HUMAN	N	26	.	ENSP00000369014:D26N	D	-	1	0	NDNF	122186367	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.717000	0.92951	0.655000	0.94253	GAT		PASS	0.478	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		13	18	13	18	---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122782823	122782823	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:122782823C>A	ENST00000264499.4	-	4	360	c.177G>T	c.(175-177)aaG>aaT	p.K59N	BBS7_ENST00000506636.1_Missense_Mutation_p.K59N	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	59					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.K59N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CGGGTAAAGTCTTGAACACTG	0.373									Bardet-Biedl syndrome																													uc003ied.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)AAG>AAT		Bardet-Biedl syndrome 7 protein isoform a							54.0	53.0	53.0					4																	122782823		2203	4300	6503	SO:0001583	missense	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122782823C>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.177G>T	4.37:g.122782823C>A	ENSP00000264499:p.Lys59Asn					BBS7_uc003iee.1_Missense_Mutation_p.K59N|BBS7_uc010inq.1_Missense_Mutation_p.K15N	p.K59N	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			4	351	-			59					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.177G>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792117	0.70452	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.91740	-2.9;-2.9	5.46	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.96100	0.9068	10	0.87932	D	0	-14.7337	12.0181	0.53326	0.0:0.8631:0.0:0.1369	.	59;59	Q8IWZ6-2;Q8IWZ6	.;BBS7_HUMAN	N	59	ENSP00000264499:K59N;ENSP00000423626:K59N	ENSP00000264499:K59N	K	-	3	2	BBS7	123002273	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.898000	0.39809	2.555000	0.86185	0.585000	0.79938	AAG		PASS	0.373	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			7	14	7	14	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123246404	123246404	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:123246404G>A	ENST00000264501.4	+	65	11297	c.10924G>A	c.(10924-10926)Gaa>Aaa	p.E3642K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3642K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3642K			Q2LD37	K1109_HUMAN	KIAA1109	3642					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E3642K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGAGAAACTGAAGAGCTCCC	0.338																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10924-10926)GAA>AAA		fragile site-associated protein							73.0	74.0	74.0					4																	123246404		1811	4071	5882	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123246404G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10924G>A	4.37:g.123246404G>A	ENSP00000264501:p.Glu3642Lys					KIAA1109_uc003iel.1_Missense_Mutation_p.E1577K|KIAA1109_uc003iem.2_Missense_Mutation_p.E12K	p.E3642K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			63	10969	+			3642					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10924G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284582	0.95517	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707	T;T;T;T	0.38240	2.38;2.38;1.65;1.15	5.93	5.08	0.68730	.	0.135975	0.49305	D	0.000160	T	0.28532	0.0706	L	0.47716	1.5	0.45621	D	0.998555	P;B;P	0.36535	0.557;0.13;0.546	B;B;B	0.27715	0.082;0.051;0.073	T	0.05053	-1.0909	10	0.21540	T	0.41	.	15.5165	0.75828	0.0672:0.0:0.9328:0.0	.	3641;3642;3642	Q2LD37-4;Q2LD37-6;Q2LD37	.;.;K1109_HUMAN	K	3642;3642;3642;325	ENSP00000264501:E3642K;ENSP00000373390:E3642K;ENSP00000389925:E3642K;ENSP00000410874:E325K	ENSP00000264501:E3642K	E	+	1	0	KIAA1109	123465854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.394000	0.97261	2.797000	0.96272	0.655000	0.94253	GAA		PASS	0.338	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	38	6	38	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393214	164393215	+	Missense_Mutation	DNP	CC	CC	GA	rs374116464		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:164393214_164393215CC>GA	ENST00000280605.3	-	1	1832_1833	c.1672_1673GG>TC	c.(1672-1674)GGc>TCc	p.G558S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	558						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.G558C(1)|p.G558A(1)|p.G558S(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)				GATAACTCGGCCGCCTGTGGCT	0.51																																						uc003iqp.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(1672-1674)GGC>GCC|c.(1672-1674)GGC>TGC		transketolase-like 2																																				SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393214C>G|g.chr4:164393215C>A	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.1672_1673delinsGA	4.37:g.164393214_164393215delinsGA	ENSP00000280605:p.Gly558Ser						p.G558A|p.G558C	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1834|1833	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	558					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1673G>C|c.1672G>T	CCDS3805.1																																																																																				PASS	0.510	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		15	27|31	15	27	---	---	---	---
FBXO8	26269	broad.mit.edu	37	4	175160165	175160165	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:175160165C>A	ENST00000393674.2	-	5	1614	c.752G>T	c.(751-753)cGa>cTa	p.R251L	FBXO8_ENST00000503293.1_Missense_Mutation_p.R210L	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	251	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R251L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GCCAAGTTCTCGCATTAAATC	0.388																																						uc003itp.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(751-753)CGA>CTA		F-box only protein 8							58.0	60.0	60.0					4																	175160165		2203	4298	6501	SO:0001583	missense	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175160165C>A	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.752G>T	4.37:g.175160165C>A	ENSP00000377280:p.Arg251Leu					FBXO8_uc003itq.2_Missense_Mutation_p.R210L	p.R251L	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	5	1602	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	251			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	c.752G>T	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469330	0.63625	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.54071	0.59;0.59	5.42	4.57	0.56435	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.135000	0.48286	D	0.000199	T	0.44159	0.1280	L	0.43923	1.385	0.43292	D	0.995277	P;P	0.41748	0.761;0.682	B;B	0.33799	0.144;0.17	T	0.49370	-0.8947	10	0.62326	D	0.03	.	16.0433	0.80701	0.0:0.8653:0.1347:0.0	.	210;251	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	L	251;210;164	ENSP00000377280:R251L;ENSP00000422905:R210L	ENSP00000296517:R164L	R	-	2	0	FBXO8	175396740	1.000000	0.71417	0.978000	0.43139	0.993000	0.82548	5.467000	0.66737	1.267000	0.44247	0.585000	0.79938	CGA		PASS	0.388	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		4	20	4	20	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175899083	175899083	+	Nonsense_Mutation	SNP	C	C	T	rs141115697	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:175899083C>T	ENST00000359240.3	+	5	3077	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q803*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q803*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q803*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	803	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GACACCCTCCCAGAGGCAACC	0.567													C|||	16	0.00319489	0.0068	0.0	5008	,	,		19498	0.006		0.0	False		,,,				2504	0.001				Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Nonsense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(2407-2409)CAG>TAG		ADAM metallopeptidase domain 29 preproprotein							133.0	125.0	128.0					4																	175899083		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899083C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2407C>T	4.37:g.175899083C>T	ENSP00000352177:p.Gln803*					ADAM29_uc003iud.2_Nonsense_Mutation_p.Q803*|ADAM29_uc010irr.2_Nonsense_Mutation_p.Q803*|ADAM29_uc011cki.1_Nonsense_Mutation_p.Q803*	p.Q803*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	3077	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	803			8.|Cytoplasmic (Potential).|9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.2407C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	38	7.112900	0.98070	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	0.629	0.629	0.17687	.	.	.	.	.	.	.	.	.	.	.	0.31426	N	0.673704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1904	0.25822	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	803	.	.	Q	+	1	0	ADAM29	176135658	0.063000	0.20901	0.006000	0.13384	0.015000	0.08874	1.091000	0.30915	0.663000	0.31027	0.280000	0.19369	CAG		PASS	0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				16	49	16	49	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175899130	175899130	+	Silent	SNP	G	G	A	rs376108430	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:175899130G>A	ENST00000359240.3	+	5	3124	c.2454G>A	c.(2452-2454)acG>acA	p.T818T	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.T818T|ADAM29_ENST00000404450.4_Silent_p.T818T|ADAM29_ENST00000514159.1_Silent_p.T818T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	818	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T818T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCCTGTGACGCCCTCCTAGA	0.587													G|||	9	0.00179712	0.0	0.0	5008	,	,		17825	0.0069		0.0	False		,,,				2504	0.002				Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(2452-2454)ACG>ACA		ADAM metallopeptidase domain 29 preproprotein		G	,,,	2,4404	4.2+/-10.8	0,2,2201	107.0	105.0	106.0		2454,2454,2454,2454	-1.3	0.0	4		106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	818/821,818/821,818/821,818/821	175899130	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899130G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2454G>A	4.37:g.175899130G>A						ADAM29_uc003iud.2_Silent_p.T818T|ADAM29_uc010irr.2_Silent_p.T818T|ADAM29_uc011cki.1_Silent_p.T818T	p.T818T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	3124	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	818			Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|9.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.2454G>A	CCDS3823.1																																																																																				PASS	0.587	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				11	44	11	44	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186545420	186545420	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr4:186545420C>A	ENST00000284776.7	-	13	1660	c.1151G>T	c.(1150-1152)tGt>tTt	p.C384F	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.C484F|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.C288F|SORBS2_ENST00000431808.1_Missense_Mutation_p.C384F|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	384					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.C384F(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GAGATCGTCACAGCTCCGGGA	0.537																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1150-1152)TGT>TTT		sorbin and SH3 domain containing 2 isoform 2							68.0	66.0	67.0					4																	186545420		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545420C>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1151G>T	4.37:g.186545420C>A	ENSP00000284776:p.Cys384Phe					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.C484F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.C288F|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.C498F|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.C384F	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2009	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	384					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1151G>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930782	0.52866	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.61274	0.17;0.17;0.12;0.13	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.993;0.977	T	0.75022	-0.3464	10	0.87932	D	0	-18.2104	20.5753	0.99366	0.0:1.0:0.0:0.0	.	288;484;384	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	F	384;384;288;484	ENSP00000284776:C384F;ENSP00000411764:C384F;ENSP00000397482:C288F;ENSP00000347852:C484F	ENSP00000284776:C384F	C	-	2	0	SORBS2	186782414	1.000000	0.71417	0.326000	0.25389	0.039000	0.13416	5.903000	0.69877	2.869000	0.98440	0.558000	0.71614	TGT		PASS	0.537	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	12	5	12	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33947345	33947345	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:33947345A>G	ENST00000296589.4	-	6	1437	c.1291T>C	c.(1291-1293)Ttt>Ctt	p.F431L	SLC45A2_ENST00000342059.3_Missense_Mutation_p.F372L|SLC45A2_ENST00000382102.3_Missense_Mutation_p.F431L	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	431					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.F431L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATTACACCAAACAGGCTGCAC	0.512																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1291-1293)TTT>CTT		membrane-associated transporter protein isoform							190.0	187.0	188.0					5																	33947345		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947345A>G	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1291T>C	5.37:g.33947345A>G	ENSP00000296589:p.Phe431Leu					SLC45A2_uc003jie.2_Missense_Mutation_p.F431L	p.F431L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			6	1383	-			431			Helical; Name=10; (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1291T>C	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674341	0.67928	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102	T;T;T	0.80393	-1.37;-1.37;-1.37	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	M	0.72894	2.215	0.80722	D	1	P;B	0.39181	0.663;0.096	B;B	0.42692	0.395;0.173	T	0.77368	-0.2614	10	0.02654	T	1	-15.8978	15.8082	0.78531	1.0:0.0:0.0:0.0	.	431;431	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	L	431;372;431	ENSP00000296589:F431L;ENSP00000341014:F372L;ENSP00000371534:F431L	ENSP00000296589:F431L	F	-	1	0	SLC45A2	33983102	1.000000	0.71417	0.913000	0.36048	0.175000	0.22909	9.075000	0.94004	2.137000	0.66172	0.533000	0.62120	TTT		PASS	0.512	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		47	247	47	247	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	G	A	rs202194656		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:36677103G>A	ENST00000265113.4	+	6	1153	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R226Q	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	226					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R226Q(2)|p.R226L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTCTTACCCGAATCACAGAG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		16165	0.001		0.0	False		,,,				2504	0.0					uc003jkj.3																			4	Substitution - Missense(4)		lung(3)|endometrium(1)		0						c.(676-678)CGA>CAA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	123.0	127.0		677,677	1.1	0.0	5		127	0,8600		0,0,4300	no	missense,missense	SLC1A3	NM_001166695.1,NM_004172.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	226/498,226/543	36677103	1,13005	2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36677103G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.677G>A	5.37:g.36677103G>A	ENSP00000265113:p.Arg226Gln					SLC1A3_uc011cox.1_Missense_Mutation_p.R119Q|SLC1A3_uc010iuy.2_Missense_Mutation_p.R226Q	p.R226Q	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1153	+	all_lung(31;0.000245)		226			Extracellular (Potential).		B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.677G>A	CCDS3919.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.530	0.870677	0.17322	2.27E-4	0.0	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.54071	0.59;0.6	5.92	1.09	0.20402	.	0.544777	0.21368	N	0.075688	T	0.18173	0.0436	N	0.00801	-1.175	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.22034	-1.0228	10	0.30854	T	0.27	-7.1884	6.8028	0.23760	0.4362:0.0:0.4553:0.1085	.	226;226	Q4JCQ8;P43003	.;EAA1_HUMAN	Q	226;174;226	ENSP00000265113:R226Q;ENSP00000371343:R226Q	ENSP00000265113:R226Q	R	+	2	0	SLC1A3	36712860	0.001000	0.12720	0.048000	0.18961	0.084000	0.17831	0.514000	0.22786	0.129000	0.18514	-0.140000	0.14226	CGA		PASS	0.488	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		10	87	10	87	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37017247	37017247	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:37017247G>A	ENST00000282516.8	+	24	5402	c.4903G>A	c.(4903-4905)Gaa>Aaa	p.E1635K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1635K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1635					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.E1635K(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGATCTATAGAACGCATTTT	0.333																																						uc003jkl.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(4903-4905)GAA>AAA		delangin isoform A							53.0	51.0	52.0					5																	37017247		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37017247G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4903G>A	5.37:g.37017247G>A	ENSP00000282516:p.Glu1635Lys					NIPBL_uc003jkk.3_Missense_Mutation_p.E1635K	p.E1635K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		24	5402	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1635					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.4903G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209185	0.58343	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.66280	-0.2;-0.2	5.45	5.45	0.79879	Armadillo-type fold (1);	0.193865	0.44902	D	0.000401	T	0.45895	0.1365	N	0.17082	0.46	0.39474	D	0.967777	B;B	0.14438	0.002;0.01	B;B	0.15052	0.005;0.012	T	0.39461	-0.9613	10	0.34782	T	0.22	.	12.942	0.58350	0.0745:0.0:0.9255:0.0	.	1635;1635	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	K	1635	ENSP00000282516:E1635K;ENSP00000406266:E1635K	ENSP00000282516:E1635K	E	+	1	0	NIPBL	37053004	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.308000	0.65768	2.717000	0.92951	0.585000	0.79938	GAA		PASS	0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		10	49	10	49	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38881856	38881856	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:38881856G>T	ENST00000274276.3	+	4	810	c.408G>T	c.(406-408)gaG>gaT	p.E136D	OSMR_ENST00000502536.1_Missense_Mutation_p.E136D	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	136					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.E136D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTTCCTGGGAGGAAGTCAGTG	0.418																																						uc003jln.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(406-408)GAG>GAT		oncostatin M receptor precursor							73.0	78.0	76.0					5																	38881856		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38881856G>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.408G>T	5.37:g.38881856G>T	ENSP00000274276:p.Glu136Asp					OSMR_uc003jlm.1_Missense_Mutation_p.E136D	p.E136D	NM_003999	NP_003990	Q99650	OSMR_HUMAN			4	775	+	all_lung(31;0.000365)		136			Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.408G>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886973	0.33348	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.62941	-0.01;-0.01	5.81	3.02	0.34903	.	2.151170	0.01438	N	0.014969	T	0.63628	0.2527	L	0.54323	1.7	0.09310	N	1	P;P	0.41848	0.651;0.763	B;B	0.42282	0.212;0.382	T	0.51180	-0.8738	10	0.72032	D	0.01	.	7.7336	0.28802	0.2714:0.0:0.7286:0.0	.	136;136	Q99650;Q99650-2	OSMR_HUMAN;.	D	136	ENSP00000422023:E136D;ENSP00000274276:E136D	ENSP00000274276:E136D	E	+	3	2	OSMR	38917613	0.107000	0.21998	0.660000	0.29694	0.626000	0.37791	0.742000	0.26216	0.785000	0.33685	0.655000	0.94253	GAG		PASS	0.418	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		7	121	7	121	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40843654	40843654	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:40843654G>T	ENST00000254691.5	+	2	883	c.684G>T	c.(682-684)gtG>gtT	p.V228V	CARD6_ENST00000381677.3_Silent_p.V228V	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	228	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.V228V(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						AAGCCACTGTGGAAGAGGAGG	0.433																																						uc003jmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(682-684)GTG>GTT		caspase recruitment domain family, member 6							73.0	76.0	75.0					5																	40843654		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843654G>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.684G>T	5.37:g.40843654G>T							p.V228V	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	759	+			228			Asp/Glu-rich.		Q52LR2	Silent	SNP	ENST00000254691.5	37	c.684G>T	CCDS3935.1																																																																																				PASS	0.433	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			5	66	5	66	---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41927172	41927172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:41927172G>T	ENST00000281623.3	+	2	303	c.247G>T	c.(247-249)Gga>Tga	p.G83*	FBXO4_ENST00000296812.2_Nonsense_Mutation_p.G83*|FBXO4_ENST00000509134.1_Nonsense_Mutation_p.G83*	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	83	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.G83*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GTGTCAGTTGGGAAGTACAAA	0.373																																						uc003jmq.2																			1	Substitution - Nonsense(1)		lung(1)	liver(1)	1						c.(247-249)GGA>TGA		F-box only protein 4 isoform 1							169.0	167.0	167.0					5																	41927172		2203	4300	6503	SO:0001587	stop_gained	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927172G>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.247G>T	5.37:g.41927172G>T	ENSP00000281623:p.Gly83*					FBXO4_uc003jmp.2_Nonsense_Mutation_p.G83*|FBXO4_uc003jmr.2_Nonsense_Mutation_p.G83*	p.G83*	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			2	303	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	83			F-box.		Q68CU8|Q86VT8|Q9UK98	Nonsense_Mutation	SNP	ENST00000281623.3	37	c.247G>T	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.947058	0.97134	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1859	20.0621	0.97678	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000281623:G83X	G	+	1	0	FBXO4	41962929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.114000	0.94329	2.750000	0.94351	0.655000	0.94253	GGA		PASS	0.373	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			7	134	7	134	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43659273	43659273	+	Splice_Site	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:43659273G>T	ENST00000264663.5	+	17	2676	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C	NNT_ENST00000344920.4_Splice_Site_p.G819C|NNT_ENST00000512996.2_Splice_Site_p.G688C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	819					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.G819C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GTTGTTCTAGGGTGTGACTTT	0.413																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2455-2457)GGT>TGT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						139.0	140.0	140.0					5																	43659273		2203	4300	6503	SO:0001630	splice_region_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659273G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2455-1G>T	5.37:g.43659273G>T						NNT_uc003jof.2_Missense_Mutation_p.G819C	p.G819C	NM_012343	NP_036475	Q13423	NNTM_HUMAN			17	2710	+	Lung NSC(6;2.58e-06)		819			Helical; (Potential).		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2455G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690621	0.88735	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.97041	-4.22;-4.22;-4.22	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98773	1.0729	9	.	.	.	-13.3527	20.3325	0.98724	0.0:0.0:1.0:0.0	.	819	Q13423	NNTM_HUMAN	C	334;819;819;688	ENSP00000264663:G819C;ENSP00000343873:G819C;ENSP00000426343:G688C	.	G	+	1	0	NNT	43695030	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	GGT		PASS	0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	Missense_Mutation	7	160	7	160	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45461983	45461983	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:45461983G>T	ENST00000303230.4	-	3	1033	c.976C>A	c.(976-978)Cca>Aca	p.P326T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	326					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P326T(2)|p.P326S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAATCTGGTGGGAAGTCCTGC	0.408																																						uc003jok.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(976-978)CCA>ACA		hyperpolarization activated cyclic							72.0	71.0	71.0					5																	45461983		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45461983G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.976C>A	5.37:g.45461983G>T	ENSP00000307342:p.Pro326Thr						p.P326T	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	1001	-			326			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.976C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902319	0.92035	.	.	ENSG00000164588	ENST00000303230	D	0.98329	-4.87	5.73	5.73	0.89815	Ion transport (1);	0.208456	0.33959	N	0.004387	D	0.98523	0.9507	M	0.78285	2.405	0.80722	D	1	P	0.41041	0.736	P	0.50440	0.641	D	0.99651	1.0991	10	0.87932	D	0	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	326	O60741	HCN1_HUMAN	T	326	ENSP00000307342:P326T	ENSP00000307342:P326T	P	-	1	0	HCN1	45497740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.857000	0.99534	2.718000	0.92993	0.650000	0.86243	CCA		PASS	0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		42	27	42	27	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82850838	82850838	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:82850838G>C	ENST00000265077.3	+	12	10281	c.9716G>C	c.(9715-9717)tGg>tCg	p.W3239S	VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.W498S|VCAN_ENST00000512590.2_Missense_Mutation_p.W1437S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.W1485S|VCAN_ENST00000343200.5_Missense_Mutation_p.W2252S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3239	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.W3239S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GACTTCCGTTGGACTGATGGC	0.443																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9715-9717)TGG>TCG		versican isoform 1 precursor							236.0	192.0	207.0					5																	82850838		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82850838G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9716G>C	5.37:g.82850838G>C	ENSP00000265077:p.Trp3239Ser					VCAN_uc003kij.3_Missense_Mutation_p.W2252S|VCAN_uc010jau.2_Missense_Mutation_p.W1485S|VCAN_uc003kik.3_Missense_Mutation_p.W498S|VCAN_uc003kil.3_Missense_Mutation_p.W1903S	p.W3239S	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	12	10072	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3239			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9716G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364745	0.82463	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.81	5.81	0.92471	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000028	T	0.77384	0.4122	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85967	0.1474	10	0.87932	D	0	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	1485;498;2252;3239	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	S	3239;2252;1485;1437;498	ENSP00000265077:W3239S;ENSP00000340062:W2252S;ENSP00000342768:W1485S;ENSP00000425959:W1437S;ENSP00000421362:W498S	ENSP00000265077:W3239S	W	+	2	0	VCAN	82886594	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.756000	0.98918	2.752000	0.94435	0.557000	0.71058	TGG		PASS	0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		6	18	6	18	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126734484	126734484	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:126734484G>T	ENST00000274473.6	+	8	1043	c.776G>T	c.(775-777)tGg>tTg	p.W259L	MEGF10_ENST00000418761.2_Missense_Mutation_p.W259L|MEGF10_ENST00000508365.1_Missense_Mutation_p.W259L|MEGF10_ENST00000503335.2_Missense_Mutation_p.W259L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	259	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.W259L(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCTTCTGGCTGGATGGTAAGC	0.522																																						uc003kuh.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(775-777)TGG>TTG		multiple EGF-like-domains 10 precursor							240.0	186.0	204.0					5																	126734484		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126734484G>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.776G>T	5.37:g.126734484G>T	ENSP00000274473:p.Trp259Leu					MEGF10_uc010jdc.1_Missense_Mutation_p.W259L|MEGF10_uc010jdd.1_Missense_Mutation_p.W259L|MEGF10_uc003kui.3_Missense_Mutation_p.W259L	p.W259L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	8	1138	+		Prostate(80;0.165)	259			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.776G>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	35	5.518432	0.96416	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.75	5.75	0.90469	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.72661	0.3488	M	0.86268	2.805	0.80722	D	1	P;D	0.69078	0.733;0.997	B;P	0.56127	0.395;0.792	T	0.76013	-0.3114	10	0.56958	D	0.05	-21.2478	19.9564	0.97221	0.0:0.0:1.0:0.0	.	259;259	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	L	259	ENSP00000423354:W259L;ENSP00000423195:W259L;ENSP00000416284:W259L;ENSP00000274473:W259L	ENSP00000274473:W259L	W	+	2	0	MEGF10	126762383	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.823000	0.99369	2.708000	0.92522	0.650000	0.86243	TGG		PASS	0.522	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		19	19	19	19	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126769147	126769147	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:126769147G>T	ENST00000274473.6	+	15	2053	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	MEGF10_ENST00000503335.2_Missense_Mutation_p.D596Y	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	596	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.D596Y(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGCTCCCCTGATGATGGCAT	0.562																																						uc003kuh.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1786-1788)GAT>TAT		multiple EGF-like-domains 10 precursor							123.0	117.0	119.0					5																	126769147		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126769147G>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1786G>T	5.37:g.126769147G>T	ENSP00000274473:p.Asp596Tyr					MEGF10_uc003kui.3_Missense_Mutation_p.D596Y	p.D596Y	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	15	2148	+		Prostate(80;0.165)	596			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1786G>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014508	0.75161	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.14391	2.51;2.51	6.17	6.17	0.99709	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.45228	1.405	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	T	0.00107	-1.2052	10	0.54805	T	0.06	-26.6992	20.8794	0.99867	0.0:0.0:1.0:0.0	.	596	Q96KG7	MEG10_HUMAN	Y	596	ENSP00000423354:D596Y;ENSP00000274473:D596Y	ENSP00000274473:D596Y	D	+	1	0	MEGF10	126797046	1.000000	0.71417	0.149000	0.22428	0.353000	0.29299	9.823000	0.99369	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.562	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		14	24	14	24	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140181452	140181452	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:140181452G>A	ENST00000522353.2	+	1	670	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G224S	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	224	Cadherin 2. {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.G224S(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)			AGAGCTCACTGGCACGACTCA	0.403																																						uc003lhf.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(670-672)GGC>AGC		protocadherin alpha 3 isoform 1 precursor							61.0	62.0	62.0					5																	140181452		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181452G>A	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.670G>A	5.37:g.140181452G>A	ENSP00000429808:p.Gly224Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G224S	p.G224S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	670	+			224			Extracellular (Potential).|Cadherin 2.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.670G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.818685	0.90790	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50813	0.73;0.73	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.42420	U	0.000706	T	0.65903	0.2736	M	0.67397	2.05	0.50632	D	0.999887	D;D	0.57899	0.981;0.972	P;P	0.62298	0.9;0.687	T	0.69339	-0.5171	10	0.62326	D	0.03	.	18.3352	0.90285	0.0:0.0:1.0:0.0	.	224;224	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	224	ENSP00000429808:G224S;ENSP00000434086:G224S	ENSP00000429808:G224S	G	+	1	0	PCDHA3	140161636	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.947000	0.87758	2.414000	0.81942	0.467000	0.42956	GGC		PASS	0.403	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		15	31	15	31	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140255775	140255775	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:140255775C>T	ENST00000398631.2	+	1	718	c.718C>T	c.(718-720)Ccg>Tcg	p.P240S	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P240S(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGGTCCGGCGTTTGA	0.428																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			1	Substitution - Missense(1)		lung(1)		0						c.(718-720)CCG>TCG		protocadherin alpha 12 isoform 1 precursor							102.0	99.0	100.0					5																	140255775		1880	4105	5985	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255775C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.718C>T	5.37:g.140255775C>T	ENSP00000381628:p.Pro240Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.P240S	p.P240S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	845	+			240			Extracellular (Potential).|Cadherin 2.		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.718C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273852	0.59649	.	.	ENSG00000251664	ENST00000398631	D	0.84800	-1.9	5.07	3.25	0.37280	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.95934	0.8676	H	0.99922	4.955	0.34435	D	0.698963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96973	0.9710	9	0.87932	D	0	.	11.2565	0.49056	0.1432:0.7191:0.1377:0.0	.	240;240	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	S	240	ENSP00000381628:P240S	ENSP00000381628:P240S	P	+	1	0	PCDHA12	140235959	1.000000	0.71417	0.003000	0.11579	0.852000	0.48524	3.986000	0.56937	0.513000	0.28278	0.591000	0.81541	CCG		PASS	0.428	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		18	51	18	51	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145428766	145428766	+	Missense_Mutation	SNP	G	G	T	rs146377978		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:145428766G>T	ENST00000511217.1	+	6	1332	c.1280G>T	c.(1279-1281)cGa>cTa	p.R427L	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R427L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	427	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.R427L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACCGGGCGAGTCGGCATC	0.612											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lnt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1279-1281)CGA>CTA		SH3 domain containing ring finger 2							71.0	71.0	71.0					5																	145428766		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145428766G>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1280G>T	5.37:g.145428766G>T	ENSP00000424497:p.Arg427Leu		OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1694	SH3RF2_uc011dbl.1_Missense_Mutation_p.R427L|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.2_5'Flank	p.R427L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1518	+			427			SH3 3.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1280G>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997066	0.54147	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.52983	0.64;0.64	5.51	5.51	0.81932	Src homology-3 domain (5);	0.085574	0.46145	D	0.000316	T	0.59459	0.2195	M	0.62016	1.91	0.34202	D	0.673304	D	0.63046	0.992	P	0.62298	0.9	T	0.71151	-0.4676	10	0.56958	D	0.05	-9.8818	8.5552	0.33476	0.1657:0.0:0.8343:0.0	.	427	Q8TEC5	SH3R2_HUMAN	L	427	ENSP00000352028:R427L;ENSP00000424497:R427L	ENSP00000352028:R427L	R	+	2	0	SH3RF2	145408959	1.000000	0.71417	0.945000	0.38365	0.543000	0.35085	3.992000	0.56980	2.587000	0.87381	0.484000	0.47621	CGA		PASS	0.612	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		14	23	14	23	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147023671	147023671	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:147023671G>C	ENST00000265272.5	-	7	1641	c.1174C>G	c.(1174-1176)Cta>Gta	p.L392V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L350V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L392V	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	392						Golgi apparatus (GO:0005794)		p.L392V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGTTTTAGAAACTCTGTT	0.393																																						uc003loq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1174-1176)CTA>GTA		janus kinase and microtubule interacting protein							144.0	134.0	137.0					5																	147023671		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147023671G>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1174C>G	5.37:g.147023671G>C	ENSP00000265272:p.Leu392Val					JAKMIP2_uc011dbx.1_Missense_Mutation_p.L350V|JAKMIP2_uc003lor.1_Missense_Mutation_p.L392V|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L392V	p.L392V	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1556	-			392			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1174C>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502413	0.64298	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.40756	1.03;1.02;1.03	5.48	1.93	0.25924	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	M	0.77486	2.375	0.48185	D	0.9996	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	D;D;D;D	0.67725	0.953;0.953;0.953;0.953	T	0.54906	-0.8223	10	0.51188	T	0.08	.	5.9382	0.19177	0.5613:0.0:0.4387:0.0	.	350;392;392;392	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	V	392;392;350;392	ENSP00000421398:L392V;ENSP00000265272:L392V;ENSP00000328989:L350V	ENSP00000265272:L392V	L	-	1	2	JAKMIP2	147003864	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.851000	0.48302	0.678000	0.31325	0.655000	0.94253	CTA		PASS	0.393	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		13	24	13	24	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983517	25983517	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:25983517C>T	ENST00000357085.3	+	8	1476	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	U91328.21_ENST00000608931.1_RNA|TRIM38_ENST00000349458.3_Missense_Mutation_p.P334S	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P334S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TACTGCCTTCCCCTGTGTCTT	0.478																																						uc003nfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)CCC>TCC		tripartite motif-containing 38							117.0	114.0	115.0					6																	25983517		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983517C>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1000C>T	6.37:g.25983517C>T	ENSP00000349596:p.Pro334Ser					TRIM38_uc003nfn.2_Missense_Mutation_p.P316S|TRIM38_uc010jqd.2_5'UTR	p.P334S	NM_006355	NP_006346	O00635	TRI38_HUMAN			8	1435	+			334			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1000C>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	c	11.16	1.556345	0.27827	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.13901	2.55;2.55;2.55	4.16	3.28	0.37604	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.297602	0.24608	N	0.037067	T	0.06005	0.0156	L	0.59912	1.85	0.09310	N	1	P;P	0.48694	0.914;0.914	B;B	0.42495	0.389;0.389	T	0.17107	-1.0380	10	0.46703	T	0.11	.	6.3666	0.21457	0.0:0.7854:0.0:0.2146	.	334;334	B2R862;O00635	.;TRI38_HUMAN	S	334	ENSP00000443976:P334S;ENSP00000230099:P334S;ENSP00000349596:P334S	ENSP00000230099:P334S	P	+	1	0	TRIM38	26091496	0.000000	0.05858	0.098000	0.21074	0.111000	0.19643	-0.032000	0.12266	1.331000	0.45412	0.591000	0.81541	CCC		PASS	0.478	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			5	81	5	81	---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056651	26056651	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:26056651G>A	ENST00000343677.2	-	1	48	c.6C>T	c.(4-6)tcC>tcT	p.S2S		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	2					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.S2S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GAGCAGTCTCGGACATGTTGA	0.612																																						uc003nfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(4-6)TCC>TCT		histone cluster 1, H1c							22.0	26.0	25.0					6																	26056651		2163	4260	6423	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056651G>A	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.6C>T	6.37:g.26056651G>A							p.S2S	NM_005319	NP_005310	P16403	H12_HUMAN			1	49	-			2					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.6C>T	CCDS4577.1																																																																																				PASS	0.612	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		9	10	9	10	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26390287	26390287	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:26390287C>T	ENST00000356709.4	+	5	890	c.779C>T	c.(778-780)aCc>aTc	p.T260I	BTN2A2_ENST00000352867.2_Missense_Mutation_p.T144I|BTN2A2_ENST00000469230.1_Missense_Mutation_p.T260I|BTN2A2_ENST00000416795.2_Missense_Mutation_p.T260I|BTN2A2_ENST00000432533.2_Missense_Mutation_p.T166I|BTN2A2_ENST00000482536.1_Missense_Mutation_p.T50I	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	260					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T260I(1)|p.T166I(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GTCATCCTGACCGCATCTCCC	0.468																																						uc003nhq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(778-780)ACC>ATC		butyrophilin, subfamily 2, member A2 isoform a							156.0	148.0	151.0					6																	26390287		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26390287C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.779C>T	6.37:g.26390287C>T	ENSP00000349143:p.Thr260Ile					BTN2A2_uc011dkf.1_Missense_Mutation_p.T144I|BTN2A2_uc011dkg.1_Missense_Mutation_p.T166I|BTN2A2_uc003nhr.2_Missense_Mutation_p.T144I|BTN2A2_uc011dkh.1_Missense_Mutation_p.T50I|BTN2A2_uc003nhs.2_Missense_Mutation_p.T260I|BTN2A2_uc003nht.2_Missense_Mutation_p.T260I|BTN2A2_uc011dki.1_Missense_Mutation_p.T9I	p.T260I	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			5	865	+			260			Extracellular (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.779C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	2.376	-0.343191	0.05243	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	2.38	2.38	0.29361	.	.	.	.	.	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B	0.21520	0.032;0.032;0.037;0.034;0.054;0.032;0.057	B;B;B;B;B;B;B	0.18871	0.01;0.01;0.007;0.006;0.022;0.01;0.023	T	0.39121	-0.9629	9	0.18276	T	0.48	.	8.317	0.32106	0.0:1.0:0.0:0.0	.	50;50;166;144;260;144;260	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	I	260;55;260;144;50;166;55;260;144	ENSP00000417472:T260I;ENSP00000418965:T55I;ENSP00000349143:T260I;ENSP00000337117:T144I;ENSP00000419451:T50I;ENSP00000394241:T166I;ENSP00000417676:T55I;ENSP00000399308:T260I;ENSP00000418176:T144I	ENSP00000337117:T144I	T	+	2	0	BTN2A2	26498266	0.036000	0.19791	0.002000	0.10522	0.104000	0.19210	0.143000	0.16115	1.627000	0.50400	0.467000	0.42956	ACC		PASS	0.468	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			14	77	14	77	---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26448623	26448623	+	Missense_Mutation	SNP	G	G	T	rs140949337		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:26448623G>T	ENST00000244519.2	+	6	1106	c.863G>T	c.(862-864)cGa>cTa	p.R288L	BTN3A3_ENST00000361232.3_Missense_Mutation_p.R246L|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R246L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	288					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.R288L(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAAAGAGAGCGAGAGATGAAA	0.493																																						uc003nhz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)CGA>CTA		butyrophilin, subfamily 3, member A3 isoform a							73.0	78.0	76.0					6																	26448623		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26448623G>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.863G>T	6.37:g.26448623G>T	ENSP00000244519:p.Arg288Leu					BTN3A3_uc003nia.2_Missense_Mutation_p.R246L|BTN3A3_uc011dkn.1_Missense_Mutation_p.R246L	p.R288L	NM_006994	NP_008925	O00478	BT3A3_HUMAN			6	1043	+			288			Cytoplasmic (Potential).		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.863G>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	6.538	0.467585	0.12402	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000487272	T;T;T;T	0.37411	1.27;1.22;1.2;4.48	1.75	-0.765	0.11023	.	.	.	.	.	T	0.11665	0.0284	L	0.61218	1.895	0.09310	N	1	P;P	0.34724	0.465;0.465	B;B	0.28849	0.095;0.095	T	0.17776	-1.0358	9	0.29301	T	0.29	.	5.711	0.17935	0.432:0.0:0.568:0.0	.	246;288	E9PCP5;O00478	.;BT3A3_HUMAN	L	288;246;246;246	ENSP00000244519:R288L;ENSP00000344968:R246L;ENSP00000355238:R246L;ENSP00000419445:R246L	ENSP00000244519:R288L	R	+	2	0	BTN3A3	26556602	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.106000	0.03319	-0.199000	0.10317	-0.391000	0.06502	CGA		PASS	0.493	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		5	58	5	58	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29274478	29274478	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:29274478G>C	ENST00000377160.2	+	1	76	c.12G>C	c.(10-12)ttG>ttC	p.L4F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L4F(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGGTCAATTTGACTTCAATGA	0.398																																						uc011dln.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)TTG>TTC		olfactory receptor, family 5, subfamily U member							177.0	184.0	182.0					6																	29274478		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274478G>C		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.12G>C	6.37:g.29274478G>C	ENSP00000366365:p.Leu4Phe						p.L4F	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	12	+			4			Extracellular (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.12G>C	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	1.587	-0.530001	0.04112	.	.	ENSG00000204695	ENST00000377160	T	0.00509	6.91	4.73	-2.6	0.06190	.	1.278870	0.05906	N	0.630751	T	0.00039	0.0001	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16988	-1.0384	10	0.09590	T	0.72	.	0.8926	0.01257	0.2555:0.1241:0.3687:0.2517	.	4	Q9UGF5	O14J1_HUMAN	F	4	ENSP00000366365:L4F	ENSP00000366365:L4F	L	+	3	2	OR14J1	29382457	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.910000	0.04054	-0.281000	0.09141	0.655000	0.94253	TTG		PASS	0.398	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			32	74	32	74	---	---	---	---
TUBB	203068	broad.mit.edu	37	6	30691668	30691668	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:30691668G>T	ENST00000327892.8	+	4	1135	c.829G>T	c.(829-831)Gga>Tga	p.G277*	TUBB_ENST00000396384.1_Nonsense_Mutation_p.G205*|TUBB_ENST00000396389.1_Nonsense_Mutation_p.G259*|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Nonsense_Mutation_p.G205*|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	277					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G277*(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CACCAGCCGTGGAAGCCAGCA	0.587																																						uc003nrl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(829-831)GGA>TGA		tubulin, beta	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						66.0	62.0	63.0					6																	30691668		2203	4300	6503	SO:0001587	stop_gained	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30691668G>T	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.829G>T	6.37:g.30691668G>T	ENSP00000339001:p.Gly277*					TUBB_uc003nrk.1_Nonsense_Mutation_p.G277*|TUBB_uc011dmq.1_Nonsense_Mutation_p.G205*	p.G277*	NM_178014	NP_821133	P07437	TBB5_HUMAN			4	956	+			277					P05218|Q8WUC1|Q9CY33	Nonsense_Mutation	SNP	ENST00000327892.8	37	c.829G>T	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	G	38	7.251778	0.98164	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000330914;ENST00000396389;ENST00000396384;ENST00000538863	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1681	0.65490	0.0:0.0:1.0:0.0	.	.	.	.	X	277;186;205;259;205;131	.	ENSP00000339001:G277X	G	+	1	0	TUBB	30799647	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.301000	0.96167	2.204000	0.70986	0.591000	0.81541	GGA		PASS	0.587	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		6	66	6	66	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33411229	33411229	+	Missense_Mutation	SNP	G	G	A	rs557096495		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:33411229G>A	ENST00000418600.2	+	15	3001	c.2900G>A	c.(2899-2901)cGa>cAa	p.R967Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R967Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R908Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	967					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.R967Q(1)|p.R952Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						caccaccaccGAGGTGGAGAG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16211	0.0		0.001	False		,,,				2504	0.0					uc011dri.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2899-2901)CGA>CAA		synaptic Ras GTPase activating protein 1							86.0	97.0	93.0					6																	33411229		2202	4300	6502	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411229G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2900G>A	6.37:g.33411229G>A	ENSP00000403636:p.Arg967Gln					SYNGAP1_uc010juy.2_Missense_Mutation_p.R938Q|SYNGAP1_uc010juz.2_Missense_Mutation_p.R679Q	p.R967Q	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			15	3095	+			967					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2900G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436019	0.25813	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.15952	2.38;2.47;2.46	4.37	4.37	0.52481	.	1.776860	0.03080	N	0.158376	T	0.06735	0.0172	N	0.08118	0	0.47905	D	0.999548	D;D;D	0.64830	0.994;0.977;0.992	P;P;P	0.49922	0.626;0.492;0.492	T	0.38329	-0.9666	10	0.11182	T	0.66	.	12.2845	0.54786	0.0:0.0:1.0:0.0	.	967;967;967	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	Q	967;967;953;908	ENSP00000293748:R967Q;ENSP00000403636:R967Q;ENSP00000412475:R908Q	ENSP00000293748:R967Q	R	+	2	0	SYNGAP1	33519207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.152000	0.58111	2.275000	0.75901	0.491000	0.48974	CGA		PASS	0.662	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		18	71	18	71	---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34498116	34498116	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:34498116G>A	ENST00000538621.1	+	7	1130	c.885G>A	c.(883-885)atG>atA	p.M295I	PACSIN1_ENST00000244458.2_Missense_Mutation_p.M295I|PACSIN1_ENST00000374043.2_Missense_Mutation_p.M253I	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	295	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)	p.M295I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCCCCGGCATGCCCATGAACT	0.617																																						uc003ojo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)ATG>ATA		protein kinase C and casein kinase substrate in							53.0	54.0	54.0					6																	34498116		2203	4300	6503	SO:0001583	missense	29993				endocytosis		protein kinase activity	g.chr6:34498116G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.885G>A	6.37:g.34498116G>A	ENSP00000439639:p.Met295Ile					PACSIN1_uc003ojp.2_Missense_Mutation_p.M295I	p.M295I	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			7	1091	+			295					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.885G>A	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240354	0.79912	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.33216	1.42;1.42;1.42	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.91196	3.185	0.80722	D	1	D	0.54207	0.965	P	0.59424	0.857	T	0.59172	-0.7504	10	0.35671	T	0.21	-0.2008	17.003	0.86385	0.0:0.0:1.0:0.0	.	295	Q9BY11	PACN1_HUMAN	I	295;253;295;295	ENSP00000244458:M295I;ENSP00000363155:M253I;ENSP00000439639:M295I	ENSP00000244458:M295I	M	+	3	0	PACSIN1	34606094	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.648000	0.98483	2.340000	0.79590	0.557000	0.71058	ATG		PASS	0.617	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			12	13	12	13	---	---	---	---
CPNE5	57699	broad.mit.edu	37	6	36714347	36714347	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:36714347G>A	ENST00000244751.2	-	16	1650	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.P50P	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	342	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.P342P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGGACTGTGAGGGGTTCCCTG	0.592																																						uc003omr.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1024-1026)CCC>CCT		copine V							88.0	84.0	85.0					6																	36714347		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36714347G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1026C>T	6.37:g.36714347G>A						CPNE5_uc003omp.1_Silent_p.P50P|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	p.P342P	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			16	1093	-			342			VWFA.		Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.1026C>T	CCDS4825.1																																																																																				PASS	0.592	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		7	20	7	20	---	---	---	---
KCNK17	89822	broad.mit.edu	37	6	39271746	39271746	+	Silent	SNP	G	G	T	rs370882564		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:39271746G>T	ENST00000373231.4	-	4	907	c.675C>A	c.(673-675)ggC>ggA	p.G225G	KCNK17_ENST00000453413.2_Silent_p.G225G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	225					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G225G(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TCACGTAGTCGCCGAAGCCCA	0.622																																						uc003ooo.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(673-675)GGC>GGA		potassium channel, subfamily K, member 17							97.0	92.0	93.0					6																	39271746		2203	4300	6503	SO:0001819	synonymous_variant	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39271746G>T	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.675C>A	6.37:g.39271746G>T						KCNK17_uc003oop.2_Silent_p.G225G	p.G225G	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			4	815	-			225					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Silent	SNP	ENST00000373231.4	37	c.675C>A	CCDS4842.1																																																																																				PASS	0.622	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		4	66	4	66	---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42937458	42937458	+	Nonsense_Mutation	SNP	C	C	A	rs267608216|rs61753222		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:42937458C>A	ENST00000304611.8	-	5	1384	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	PEX6_ENST00000244546.4_Nonsense_Mutation_p.E439*	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	439					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.E439*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACCAAGGCCTCCAGGCCTGGA	0.547																																						uc003otf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1315-1317)GAG>TAG		peroxisomal biogenesis factor 6							57.0	59.0	58.0					6																	42937458		2203	4300	6503	SO:0001587	stop_gained	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42937458C>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1315G>T	6.37:g.42937458C>A	ENSP00000303511:p.Glu439*					PEX6_uc010jya.2_RNA	p.E439*	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		5	1408	-			439					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Nonsense_Mutation	SNP	ENST00000304611.8	37	c.1315G>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629179	0.87560	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	.	.	.	5.35	5.35	0.76521	.	1.031490	0.07572	N	0.918698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-24.1048	12.1316	0.53946	0.2146:0.7854:0.0:0.0	.	.	.	.	X	439	.	ENSP00000244546:E439X	E	-	1	0	PEX6	43045436	0.997000	0.39634	1.000000	0.80357	0.347000	0.29111	2.340000	0.43974	2.676000	0.91093	0.655000	0.94253	GAG		PASS	0.547	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		5	61	5	61	---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43008367	43008367	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:43008367C>A	ENST00000265348.3	-	21	4009	c.3924G>T	c.(3922-3924)ctG>ctT	p.L1308L	CUL7_ENST00000535468.1_Silent_p.L1392L			Q14999	CUL7_HUMAN	cullin 7	1308					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.L1308L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TAGAGGTGCTCAGGCTCTGCA	0.612																																						uc003otq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(3922-3924)CTG>CTT		cullin 7							88.0	96.0	93.0					6																	43008367		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43008367C>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3924G>T	6.37:g.43008367C>A						CUL7_uc010jyg.2_Silent_p.L587L|CUL7_uc011dvb.1_Silent_p.L1392L|CUL7_uc010jyh.2_Silent_p.L301L|KLC4_uc003otr.1_5'Flank	p.L1308L	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		21	4227	-			1308					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.3924G>T	CCDS4881.1																																																																																				PASS	0.612	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		5	75	5	75	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43534990	43534990	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:43534990G>T	ENST00000265351.7	-	7	960	c.750C>A	c.(748-750)ctC>ctA	p.L250L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	250					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.L250L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTATCTCCAGGAGTTTACAGT	0.453																																						uc003ovp.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)|kidney(1)	4						c.(748-750)CTC>CTA		exportin 5							72.0	67.0	68.0					6																	43534990		1913	4115	6028	SO:0001819	synonymous_variant	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43534990G>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.750C>A	6.37:g.43534990G>T							p.L250L	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		7	961	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		250					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	c.750C>A	CCDS47430.1																																																																																				PASS	0.453	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		12	49	12	49	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47649797	47649797	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:47649797G>T	ENST00000296862.1	+	6	1502	c.1502G>T	c.(1501-1503)tGg>tTg	p.W501L	GPR111_ENST00000398742.2_Missense_Mutation_p.W433L|GPR111_ENST00000507065.1_Missense_Mutation_p.W433L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	501					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W501L(1)|p.W433L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGATGTGTGGTTCATTGTG	0.438																																						uc010jzj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1501-1503)TGG>TTG		G-protein coupled receptor 111							79.0	75.0	77.0					6																	47649797		2026	4201	6227	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649797G>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1502G>T	6.37:g.47649797G>T	ENSP00000296862:p.Trp501Leu					GPR111_uc010jzk.1_Missense_Mutation_p.W433L|GPR111_uc003oyy.2_RNA	p.W501L	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1503	+			501			Helical; Name=2; (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1502G>T		.	.	.	.	.	.	.	.	.	.	G	13.42	2.230698	0.39399	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.37058	1.22;1.22;1.22	5.52	3.58	0.41010	GPCR, family 2-like (1);	0.769868	0.11643	N	0.543594	T	0.10680	0.0261	N	0.21282	0.65	0.32193	N	0.578817	B;P	0.35575	0.292;0.51	B;B	0.40038	0.126;0.317	T	0.09271	-1.0682	10	0.08599	T	0.76	.	9.5984	0.39589	0.0:0.1279:0.5803:0.2918	.	433;501	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	L	433;501;433	ENSP00000422934:W433L;ENSP00000296862:W501L;ENSP00000381727:W433L	ENSP00000296862:W501L	W	+	2	0	GPR111	47757756	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.263000	0.65507	1.285000	0.44548	0.655000	0.94253	TGG		PASS	0.438	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		4	30	4	30	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69349136	69349136	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:69349136G>T	ENST00000370598.1	+	3	1390	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	190					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.G190V(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)				GAATCATGTGGGATCATGTAT	0.448																																						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.(568-570)GGG>GTG		brain-specific angiogenesis inhibitor 3							70.0	70.0	70.0					6																	69349136		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.chr6:69349136G>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.569G>T	6.37:g.69349136G>T	ENSP00000359630:p.Gly190Val					BAI3_uc010kak.2_Missense_Mutation_p.G190V	p.G190V	NM_001704	NP_001695	O60242	BAI3_HUMAN			3	1017	+		all_lung(197;0.212)	190			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.569G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474675	0.63737	.	.	ENSG00000135298	ENST00000370598	T	0.35421	1.31	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	T	0.49304	0.1549	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.51803	-0.8659	10	0.87932	D	0	.	18.9257	0.92544	0.0:0.0:1.0:0.0	.	190	O60242	BAI3_HUMAN	V	190	ENSP00000359630:G190V	ENSP00000359630:G190V	G	+	2	0	BAI3	69405857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.261000	0.72509	2.552000	0.86080	0.655000	0.94253	GGG		PASS	0.448	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			6	42	6	42	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69949100	69949100	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:69949100G>T	ENST00000370598.1	+	20	3617	c.2796G>T	c.(2794-2796)caG>caT	p.Q932H	BAI3_ENST00000238918.8_Missense_Mutation_p.Q138H	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	932					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.Q932H(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)				TGGTTGGACAGACTCAGACAC	0.333																																						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.(2794-2796)CAG>CAT		brain-specific angiogenesis inhibitor 3							156.0	147.0	150.0					6																	69949100		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949100G>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.2796G>T	6.37:g.69949100G>T	ENSP00000359630:p.Gln932His					BAI3_uc010kak.2_Missense_Mutation_p.Q932H|BAI3_uc011dxx.1_Missense_Mutation_p.Q138H|BAI3_uc003pex.1_Missense_Mutation_p.Q62H	p.Q932H	NM_001704	NP_001695	O60242	BAI3_HUMAN			20	3244	+		all_lung(197;0.212)	932			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2796G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396581	0.42512	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.37058	1.22;1.22	5.12	0.727	0.18254	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.51853	1.615	0.80722	D	1	D;D;D	0.89917	0.996;0.991;1.0	D;D;D	0.87578	0.995;0.986;0.998	T	0.22556	-1.0213	10	0.66056	D	0.02	.	7.0364	0.24995	0.6868:0.0:0.3132:0.0	.	138;932;932	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	H	932;138	ENSP00000359630:Q932H;ENSP00000238918:Q138H	ENSP00000238918:Q138H	Q	+	3	2	BAI3	70005821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.612000	0.46343	0.193000	0.20303	0.655000	0.94253	CAG		PASS	0.333	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	62	5	62	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74440235	74440235	+	Missense_Mutation	SNP	C	C	T	rs137899447		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:74440235C>T	ENST00000287097.5	+	4	557	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	CD109_ENST00000437994.2_Missense_Mutation_p.R149C|CD109_ENST00000422508.2_Intron			Q6YHK3	CD109_HUMAN	CD109 molecule	149					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R149C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTGAAGTTTCGCATTGTTAC	0.373																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(445-447)CGC>TGC		CD109 antigen isoform 1 precursor							93.0	89.0	90.0					6																	74440235		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74440235C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.445C>T	6.37:g.74440235C>T	ENSP00000287097:p.Arg149Cys					CD109_uc010kaz.2_Missense_Mutation_p.R149C|CD109_uc003phq.2_Missense_Mutation_p.R149C|CD109_uc010kba.2_Intron	p.R149C	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			4	870	+			149					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.445C>T	CCDS4982.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.79	2.936917	0.52972	.	.	ENSG00000156535	ENST00000437994;ENST00000287097	T;T	0.77489	-1.1;-1.1	4.27	3.39	0.38822	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91568	0.5269	10	0.87932	D	0	.	12.6082	0.56535	0.1676:0.8324:0.0:0.0	.	149;149;149	Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	C	149	ENSP00000388062:R149C;ENSP00000287097:R149C	ENSP00000287097:R149C	R	+	1	0	CD109	74496956	1.000000	0.71417	0.986000	0.45419	0.605000	0.37080	3.440000	0.52886	1.114000	0.41781	0.650000	0.86243	CGC		PASS	0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		7	38	7	38	---	---	---	---
TPBG	7162	broad.mit.edu	37	6	83075567	83075567	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:83075567G>A	ENST00000369750.3	+	2	1506	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	TPBG_ENST00000535040.1_Missense_Mutation_p.V297I|TPBG_ENST00000543496.1_Missense_Mutation_p.V297I			Q13641	TPBG_HUMAN	trophoblast glycoprotein	297	LRRCT.				cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.V297I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CAATCCCTGGGTCTGCGACTG	0.547																																						uc003pjn.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(889-891)GTC>ATC		trophoblast glycoprotein precursor							105.0	95.0	98.0					6																	83075567		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075567G>A	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.889G>A	6.37:g.83075567G>A	ENSP00000358765:p.Val297Ile					TPBG_uc010kbj.2_Missense_Mutation_p.V297I|TPBG_uc003pjo.2_Missense_Mutation_p.V297I	p.V297I	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	1825	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	297			Extracellular (Potential).|LRRCT.		A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.889G>A	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837432	0.32513	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.02421	4.3;4.3;4.3	5.74	4.83	0.62350	Cysteine-rich flanking region, C-terminal (1);	1.335480	0.04895	N	0.450252	T	0.01592	0.0051	L	0.28400	0.85	0.26610	N	0.972854	P	0.36199	0.543	B	0.31946	0.138	T	0.49457	-0.8938	10	0.37606	T	0.19	-22.2627	18.3976	0.90504	0.0:0.128:0.872:0.0	.	297	Q13641	TPBG_HUMAN	I	297	ENSP00000441219:V297I;ENSP00000358765:V297I;ENSP00000440049:V297I	ENSP00000358765:V297I	V	+	1	0	TPBG	83132286	0.991000	0.36638	0.998000	0.56505	0.891000	0.51852	2.119000	0.41958	2.716000	0.92895	0.650000	0.86243	GTC		PASS	0.547	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			15	46	15	46	---	---	---	---
ME1	4199	broad.mit.edu	37	6	84108236	84108236	+	Splice_Site	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:84108236C>A	ENST00000369705.3	-	3	329		c.e3-1		ME1_ENST00000543031.1_Splice_Site|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic						carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.?(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		GAGAAGATACCTGTAAAAATT	0.294																																						uc003pjy.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.e3-1		cytosolic malic enzyme 1	NADH(DB00157)						44.0	47.0	46.0					6																	84108236		2203	4299	6502	SO:0001630	splice_region_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84108236C>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.213-1G>T	6.37:g.84108236C>A						ME1_uc011dzb.1_Splice_Site|ME1_uc011dzc.1_Intron	p.R71_splice	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	3	319	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)						B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Splice_Site	SNP	ENST00000369705.3	37	c.213_splice	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380738	0.82792	.	.	ENSG00000065833	ENST00000369705	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9675	0.97275	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ME1	84164955	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.814000	0.86154	2.709000	0.92574	0.655000	0.94253	.		PASS	0.294	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		Intron	5	39	5	39	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87967475	87967475	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:87967475C>A	ENST00000369577.3	+	8	4171	c.4128C>A	c.(4126-4128)atC>atA	p.I1376I	ZNF292_ENST00000339907.4_Silent_p.I1371I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1376						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I1231I(1)|p.I1376I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGAAATTTATCTGTAGCAGGT	0.458																																						uc003plm.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(4126-4128)ATC>ATA		zinc finger protein 292							59.0	58.0	58.0					6																	87967475		1845	4098	5943	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967475C>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4128C>A	6.37:g.87967475C>A							p.I1376I	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4169	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1376			C2H2-type 8; degenerate.		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.4128C>A	CCDS47457.1																																																																																				PASS	0.458	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		9	23	9	23	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888538	89888538	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:89888538G>T	ENST00000454853.2	-	10	1501	c.1391C>A	c.(1390-1392)cCa>cAa	p.P464Q	GABRR1_ENST00000369451.3_Missense_Mutation_p.P377Q|GABRR1_ENST00000435811.1_Missense_Mutation_p.P447Q	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	464					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P458Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	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)	GTATGCTGCTGGAAAGATGAT	0.398																																						uc003pna.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1390-1392)CCA>CAA		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						123.0	121.0	121.0					6																	89888538		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|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.chr6:89888538G>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1391C>A	6.37:g.89888538G>T	ENSP00000412673:p.Pro464Gln					GABRR1_uc011dzv.1_Missense_Mutation_p.P441Q	p.P464Q	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	10	1846	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	464			Helical; (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.1391C>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550977	0.65311	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.86432	-2.12;-2.12;-2.12	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94598	0.8259	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94677	0.7862	9	.	.	.	-11.5567	19.7272	0.96168	0.0:0.0:1.0:0.0	.	447;464	P24046-2;P24046	.;GBRR1_HUMAN	Q	464;447;377;377	ENSP00000412673:P464Q;ENSP00000394687:P447Q;ENSP00000358463:P377Q	.	P	-	2	0	GABRR1	89945257	1.000000	0.71417	0.995000	0.50966	0.064000	0.16182	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	CCA		PASS	0.398	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			5	50	5	50	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90428724	90428724	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:90428724C>A	ENST00000369393.3	-	42	6198	c.6083G>T	c.(6082-6084)gGg>gTg	p.G2028V	MDN1_ENST00000428876.1_Missense_Mutation_p.G2028V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2028					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.G2028V(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)		AACACAGCTCCCACGGGAAAG	0.517																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(6082-6084)GGG>GTG		MDN1, midasin homolog							66.0	69.0	68.0					6																	90428724		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90428724C>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.6083G>T	6.37:g.90428724C>A	ENSP00000358400:p.Gly2028Val						p.G2028V	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	42	6199	-		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)	2028					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6083G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761743	0.31228	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03330	3.97;3.97	5.63	4.74	0.60224	.	0.284415	0.37393	N	0.002112	T	0.01730	0.0055	L	0.34521	1.04	0.49798	D	0.999829	B	0.22851	0.076	B	0.23716	0.048	T	0.50898	-0.8773	10	0.30078	T	0.28	.	16.4209	0.83758	0.0:0.8683:0.1317:0.0	.	2028	Q9NU22	MDN1_HUMAN	V	2028	ENSP00000358400:G2028V;ENSP00000413970:G2028V	ENSP00000358400:G2028V	G	-	2	0	MDN1	90485445	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.646000	0.54396	1.314000	0.45095	0.650000	0.86243	GGG		PASS	0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	36	7	36	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110763720	110763720	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:110763720C>T	ENST00000368919.3	-	4	976	c.910G>A	c.(910-912)Gca>Aca	p.A304T	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.A304T|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A270T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	304					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.A304T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ATTTTTTGTGCTTCTTCATAT	0.468																																						uc003puf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)GCA>ACA		solute carrier family 22, member 16							99.0	93.0	95.0					6																	110763720		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110763720C>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.910G>A	6.37:g.110763720C>T	ENSP00000357915:p.Ala304Thr					SLC22A16_uc003pue.2_Missense_Mutation_p.A285T	p.A304T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	4	977	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	304					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.910G>A	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771397	0.69992	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.78	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106321	0.64402	D	0.000005	D	0.89712	0.6794	M	0.90369	3.11	0.80722	D	1	D;D	0.57899	0.981;0.976	P;P	0.56514	0.8;0.698	D	0.90772	0.4673	10	0.49607	T	0.09	.	18.1444	0.89651	0.0:1.0:0.0:0.0	.	304;270	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	T	304;221;270;304;134;261	ENSP00000357915:A304T;ENSP00000395642:A221T;ENSP00000328583:A270T;ENSP00000408799:A304T;ENSP00000409306:A134T;ENSP00000416310:A261T	ENSP00000328583:A270T	A	-	1	0	SLC22A16	110870413	1.000000	0.71417	0.996000	0.52242	0.029000	0.11900	3.414000	0.52693	2.346000	0.79739	0.655000	0.94253	GCA		PASS	0.468	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		11	44	11	44	---	---	---	---
NKAIN2	154215	broad.mit.edu	37	6	124604269	124604269	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:124604269G>T	ENST00000368417.1	+	2	233	c.173G>T	c.(172-174)aGa>aTa	p.R58I	NKAIN2_ENST00000546092.1_Missense_Mutation_p.R58I|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R43I|NKAIN2_ENST00000368416.1_Missense_Mutation_p.R58I	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R58I(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATTCAATATAGACCTCGTTAC	0.333																																						uc003pzo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)AGA>ATA		T-cell lymphoma breakpoint-associated target 1							139.0	134.0	136.0					6																	124604269		2203	4300	6503	SO:0001583	missense	154215					integral to membrane|plasma membrane		g.chr6:124604269G>T	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.173G>T	6.37:g.124604269G>T	ENSP00000357402:p.Arg58Ile					NKAIN2_uc003pzn.1_Missense_Mutation_p.R58I|NKAIN2_uc003pzp.2_Missense_Mutation_p.R57I|NKAIN2_uc010keq.2_Missense_Mutation_p.R58I|NKAIN2_uc010ker.2_5'UTR|NKAIN2_uc010kep.1_RNA	p.R58I	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	2	450	+			58					Q8IYR4|Q8TF67	Missense_Mutation	SNP	ENST00000368417.1	37	c.173G>T	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892231	0.91889	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.7	5.7	0.88788	.	0.104108	0.64402	D	0.000005	T	0.59307	0.2184	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	0.994;0.994;0.996;1.0	D;D;D;D	0.79108	0.975;0.983;0.985;0.992	T	0.66634	-0.5874	10	0.87932	D	0	-10.4343	19.8344	0.96650	0.0:0.0:1.0:0.0	.	58;57;58;58	F5GY48;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	I	58;58;58;57;43	ENSP00000357401:R58I;ENSP00000357402:R58I;ENSP00000440287:R58I;ENSP00000437798:R43I	ENSP00000357401:R58I	R	+	2	0	NKAIN2	124645968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.737000	0.98831	2.692000	0.91855	0.655000	0.94253	AGA		PASS	0.333	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		10	306	10	306	---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126206305	126206305	+	Splice_Site	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:126206305G>T	ENST00000368357.3	+	9	1052	c.700G>T	c.(700-702)Ggt>Tgt	p.G234C	NCOA7_ENST00000229634.9_Splice_Site_p.G130C|NCOA7_ENST00000392477.2_Splice_Site_p.G234C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	234					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.G234C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TCTCCTGCAGGGTGTGGTTGG	0.443																																						uc010kes.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(700-702)GGT>TGT		nuclear receptor coactivator 7 isoform 1							253.0	227.0	236.0					6																	126206305		2203	4300	6503	SO:0001630	splice_region_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126206305G>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.700-1G>T	6.37:g.126206305G>T						NCOA7_uc003qae.3_Missense_Mutation_p.G234C|NCOA7_uc003qah.2_Missense_Mutation_p.G234C|NCOA7_uc003qai.2_Missense_Mutation_p.G234C|NCOA7_uc010ket.2_Missense_Mutation_p.G130C|NCOA7_uc003qag.2_Missense_Mutation_p.G234C	p.G234C	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	10	1149	+			234					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.700G>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982429	0.93044	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.58210	1.61;1.61;1.71;0.35	5.7	5.7	0.88788	GRAM (1);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.979	T	0.72852	-0.4167	9	.	.	.	-1.1336	19.8351	0.96655	0.0:0.0:1.0:0.0	.	234;234;234	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	C	234;234;130;43	ENSP00000357341:G234C;ENSP00000376269:G234C;ENSP00000229634:G130C;ENSP00000389186:G43C	.	G	+	1	0	NCOA7	126247998	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	GGT		PASS	0.443	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	Missense_Mutation	15	805	15	805	---	---	---	---
TRMT11	60487	broad.mit.edu	37	6	126329537	126329537	+	Splice_Site	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:126329537G>T	ENST00000334379.5	+	8	800		c.e8-1		TRMT11_ENST00000450358.1_Splice_Site|TRMT11_ENST00000368332.3_Splice_Site	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TGATTTTTCAGGTGGCCTGCT	0.423																																						uc003qam.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8-1		tRNA methyltransferase 11							262.0	230.0	240.0					6																	126329537		2203	4300	6503	SO:0001630	splice_region_variant	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126329537G>T	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.680-1G>T	6.37:g.126329537G>T						TRMT11_uc003qan.2_Splice_Site|TRMT11_uc010kev.2_Splice_Site_p.G227_splice	p.G227_splice	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	8	801	+								E1P570|Q5JY11|Q6PGQ5|Q9HC13	Splice_Site	SNP	ENST00000334379.5	37	c.680_splice	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457730	0.84317	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000453993	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1511	0.98086	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRMT11	126371230	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	.		PASS	0.423	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820	Intron	12	576	12	576	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129929122	129929122	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:129929122C>G	ENST00000368149.2	-	9	1286	c.1198G>C	c.(1198-1200)Gcc>Ccc	p.A400P		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.A400P(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AGCAGGCTGGCGGCATCATGC	0.453																																						uc003qbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1198-1200)GCC>CCC		Rho GTPase activating protein 18							94.0	92.0	93.0					6																	129929122		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129929122C>G	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1198G>C	6.37:g.129929122C>G	ENSP00000357131:p.Ala400Pro					ARHGAP18_uc011ebw.1_Missense_Mutation_p.A400P	p.A400P	NM_033515	NP_277050	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	9	1287	-			400			Rho-GAP.			Missense_Mutation	SNP	ENST00000368149.2	37	c.1198G>C	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994540	0.93167	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	6.03	5.16	0.70880	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93718	0.7030	8	.	.	.	.	15.3753	0.74598	0.0:0.9336:0.0:0.0664	.	400;400	A9UK01;Q8N392	.;RHG18_HUMAN	P	355;400	.	.	A	-	1	0	ARHGAP18	129970815	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	6.037000	0.70956	1.567000	0.49668	0.655000	0.94253	GCC		PASS	0.453	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		10	49	10	49	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277400	131277400	+	Silent	SNP	G	G	T	rs553971623	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:131277400G>T	ENST00000337057.3	-	2	407	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	EPB41L2_ENST00000392427.3_Silent_p.R76R|EPB41L2_ENST00000527411.1_Silent_p.R76R|EPB41L2_ENST00000368128.2_Silent_p.R76R|EPB41L2_ENST00000527659.1_Silent_p.R76R|EPB41L2_ENST00000445890.2_Silent_p.R76R|EPB41L2_ENST00000525193.1_Silent_p.R76R|EPB41L2_ENST00000528282.1_Silent_p.R76R|EPB41L2_ENST00000525271.1_Silent_p.R76R|EPB41L2_ENST00000530481.1_Silent_p.R76R|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000529208.1_Silent_p.R76R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	76					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.R76R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGTATGAACCGAGAAATACCC	0.483																																						uc003qch.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(226-228)CGG>AGG		erythrocyte membrane protein band 4.1-like 2							152.0	149.0	150.0					6																	131277400		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277400G>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.226C>A	6.37:g.131277400G>T						EPB41L2_uc003qcg.1_Silent_p.R76R|EPB41L2_uc011eby.1_Silent_p.R76R|EPB41L2_uc003qci.2_Silent_p.R76R|EPB41L2_uc010kfk.2_Silent_p.R76R|EPB41L2_uc010kfl.1_Silent_p.R76R	p.R76R	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	408	-	Breast(56;0.0639)		76					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.226C>A	CCDS5141.1																																																																																				PASS	0.483	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			6	92	6	92	---	---	---	---
SLC35D3	340146	broad.mit.edu	37	6	137245753	137245753	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:137245753C>A	ENST00000331858.4	+	2	1335	c.1170C>A	c.(1168-1170)ctC>ctA	p.L390L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	390					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.L390L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ATGCTTACCTCGAGGTATGGA	0.532																																						uc003qhe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1168-1170)CTC>CTA		solute carrier family 35, member D3							104.0	117.0	113.0					6																	137245753		2203	4300	6503	SO:0001819	synonymous_variant	340146				carbohydrate transport	integral to membrane		g.chr6:137245753C>A		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1170C>A	6.37:g.137245753C>A							p.L390L	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1335	+	Colorectal(23;0.24)		390					B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	c.1170C>A	CCDS34544.1																																																																																				PASS	0.532	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		4	49	4	49	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139094876	139094876	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:139094876C>A	ENST00000332797.6	+	1	220	c.65C>A	c.(64-66)gCa>gAa	p.A22E		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	22								p.A22E(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CCGCTTGGGGCATGGAGGCTG	0.617																																						uc003qie.2																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GCA>GAA		coiled-coil domain containing 28A							88.0	102.0	98.0					6																	139094876		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139094876C>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.65C>A	6.37:g.139094876C>A	ENSP00000332716:p.Ala22Glu					uc003qid.1_5'Flank	p.A22E	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	220	+			22					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.65C>A	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562367	0.45694	.	.	ENSG00000024862	ENST00000332797	T	0.26067	1.76	5.35	-1.34	0.09143	.	1.182910	0.06638	N	0.760570	T	0.05914	0.0154	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41592	-0.9500	10	0.66056	D	0.02	-3.3639	0.8264	0.01121	0.3963:0.2413:0.1787:0.1838	.	22	Q8IWP9	CC28A_HUMAN	E	22	ENSP00000332716:A22E	ENSP00000332716:A22E	A	+	2	0	CCDC28A	139136569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.110000	0.15437	-0.135000	0.11495	0.655000	0.94253	GCA		PASS	0.617	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		10	38	10	38	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152861157	152861157	+	Splice_Site	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:152861157C>A	ENST00000367255.5	-	4	669		c.e4-1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTGCTCATCTAGAAGGAAA	0.343										HNSCC(10;0.0054)																												uc010kiw.2																			3	Unknown(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.e4-1		spectrin repeat containing, nuclear envelope 1							163.0	158.0	160.0					6																	152861157		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152861157C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.68-1G>T	6.37:g.152861157C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Splice_Site_p.D23_splice|SYNE1_uc003qou.3_Splice_Site_p.D23_splice|SYNE1_uc010kjb.1_Splice_Site_p.D23_splice|SYNE1_uc003qpa.1_Splice_Site_p.D23_splice	p.D23_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	4	670	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.68_splice	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088722	0.76756	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9363	0.86203	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152902850	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.762000	0.68809	2.669000	0.90835	0.655000	0.94253	.		PASS	0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	17	46	17	46	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161007644	161007644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr6:161007644G>T	ENST00000316300.5	-	25	4010	c.3966C>A	c.(3964-3966)taC>taA	p.Y1322*	LPA_ENST00000447678.1_Nonsense_Mutation_p.Y1322*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3830	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Y1322*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATTCCTGCAGTAGTTCCTGG	0.483																																						uc003qtl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3964-3966)TAC>TAA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						93.0	93.0	93.0					6																	161007644		2190	4297	6487	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161007644G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3966C>A	6.37:g.161007644G>T	ENSP00000321334:p.Tyr1322*						p.Y1322*	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4086	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3830			Kringle 34.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.3966C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	40	8.347968	0.98772	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7851	0.46401	0.0:0.0:1.0:0.0	.	.	.	.	X	1322	.	ENSP00000321334:Y1322X	Y	-	3	2	LPA	160927634	1.000000	0.71417	0.992000	0.48379	0.449000	0.32228	0.306000	0.19279	1.410000	0.46936	0.430000	0.28490	TAC		PASS	0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		7	49	7	49	---	---	---	---
GPER1	2852	broad.mit.edu	37	7	1131687	1131687	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:1131687T>A	ENST00000297469.3	+	2	1014	c.323T>A	c.(322-324)cTg>cAg	p.L108Q	C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.L108Q|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.L108Q|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.L108Q	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	108					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)	p.L108Q(1)									GACCTCATCCTGGTGGCCGAC	0.577																																						uc010ksd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CTG>CAG		G protein-coupled receptor 30							139.0	113.0	122.0					7																	1131687		2203	4300	6503	SO:0001583	missense	2852					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131687T>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.323T>A	7.37:g.1131687T>A	ENSP00000297469:p.Leu108Gln					C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.L108Q|GPER_uc003ska.1_Missense_Mutation_p.L108Q|GPER_uc003skb.2_Missense_Mutation_p.L108Q	p.L108Q	NM_001098201	NP_001091671	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	2	712	+		Ovarian(82;0.0253)	108			Helical; Name=2; (Potential).		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.323T>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342171	0.61073	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.86020	0.5833	M	0.77616	2.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87896	0.2687	10	0.87932	D	0	-13.9818	14.7598	0.69596	0.0:0.0:0.0:1.0	.	108	Q99527	GPER_HUMAN	Q	108	ENSP00000385151:L108Q;ENSP00000380281:L108Q;ENSP00000297469:L108Q;ENSP00000380277:L108Q	ENSP00000297469:L108Q	L	+	2	0	GPER	1098213	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.482000	0.81143	2.089000	0.63090	0.523000	0.50628	CTG		PASS	0.577	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		9	76	9	76	---	---	---	---
AP5Z1	9907	broad.mit.edu	37	7	4831000	4831000	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:4831000G>A	ENST00000348624.4	+	17	2502	c.2408G>A	c.(2407-2409)gGc>gAc	p.G803D	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	803					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G1514D(1)|p.G647D(1)									AGGGAGGCCGGCCTCATGCCA	0.677																																						uc003sne.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2407-2409)GGC>GAC		hypothetical protein LOC9907							16.0	19.0	18.0					7																	4831000		2019	4172	6191	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4831000G>A	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2408G>A	7.37:g.4831000G>A	ENSP00000297562:p.Gly803Asp					KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.G280D	p.G803D	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	17	2491	+		Ovarian(82;0.0175)	803					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.2408G>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553786	0.65425	.	.	ENSG00000242802	ENST00000348624	T	0.49139	0.79	4.99	4.99	0.66335	.	.	.	.	.	T	0.62768	0.2455	M	0.70595	2.14	0.80722	D	1	D;D	0.63046	0.961;0.992	P;P	0.59357	0.541;0.856	T	0.66500	-0.5908	9	0.62326	D	0.03	.	13.0736	0.59075	0.0:0.1612:0.8388:0.0	.	1514;803	A4D1Z4;O43299	.;K0415_HUMAN	D	803	ENSP00000297562:G803D	ENSP00000297562:G803D	G	+	2	0	KIAA0415	4797526	0.263000	0.24083	0.222000	0.23844	0.264000	0.26372	0.705000	0.25675	2.292000	0.77174	0.655000	0.94253	GGC		PASS	0.677	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			5	8	5	8	---	---	---	---
AIMP2	7965	broad.mit.edu	37	7	6054848	6054848	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:6054848G>C	ENST00000223029.3	+	2	326	c.207G>C	c.(205-207)ttG>ttC	p.L69F	AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_5'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	69					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L69F(1)		large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGTATGAGTTGAAAGCTGCAG	0.433																																						uc003spo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)TTG>TTC		aminoacyl tRNA synthetase complex-interacting							158.0	154.0	155.0					7																	6054848		2203	4300	6503	SO:0001583	missense	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6054848G>C	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.207G>C	7.37:g.6054848G>C	ENSP00000223029:p.Leu69Phe						p.L69F	NM_006303	NP_006294	Q13155	AIMP2_HUMAN			2	320	+			69					Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	c.207G>C	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952140	0.92660	.	.	ENSG00000106305	ENST00000223029	T	0.62941	-0.01	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84440	0.0582	10	0.87932	D	0	-17.457	18.9096	0.92477	0.0:0.0:1.0:0.0	.	69	Q13155	AIMP2_HUMAN	F	69	ENSP00000223029:L69F	ENSP00000223029:L69F	L	+	3	2	AIMP2	6021374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.321000	0.51999	2.457000	0.83068	0.650000	0.86243	TTG		PASS	0.433	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		28	111	28	111	---	---	---	---
TWIST1	7291	broad.mit.edu	37	7	19156538	19156538	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:19156538G>T	ENST00000242261.5	-	1	757	c.407C>A	c.(406-408)cCc>cAc	p.P136H	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	136	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)	p.P136H(1)		lung(2)|upper_aerodigestive_tract(1)	3						GGGCAGCGTGGGGATGATCTT	0.647																																						uc003sum.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM056999|CM980021	TWIST1	M		c.(406-408)CCC>CAC		twist							106.0	82.0	90.0					7																	19156538		2203	4300	6503	SO:0001583	missense	7291	Saethre-Chotzen_syndrome			aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr7:19156538G>T	U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"""Basic helix-loop-helix proteins"""	12428	protein-coding gene	gene with protein product	"""Saethre-Chotzen syndrome"""	601622	"""blepharophimosis, epicanthus inversus and ptosis 3"", ""acrocephalosyndactyly 3"", ""twist homolog 1 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 1"", ""craniosynostosis"""	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.407C>A	7.37:g.19156538G>T	ENSP00000242261:p.Pro136His						p.P136H	NM_000474	NP_000465	Q15672	TWST1_HUMAN			1	758	-			136			Helix-loop-helix motif.		A4D128|Q92487|Q99804	Missense_Mutation	SNP	ENST00000242261.5	37	c.407C>A	CCDS5367.1	.	.	.	.	.	.	.	.	.	.	g	18.46	3.629689	0.67015	.	.	ENSG00000122691	ENST00000242261	D	0.99405	-5.84	4.77	3.88	0.44766	Helix-loop-helix DNA-binding (5);	0.000000	0.48286	D	0.000197	D	0.99684	0.9881	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97680	1.0172	10	0.87932	D	0	-13.5204	12.9658	0.58483	0.0812:0.0:0.9188:0.0	.	136	Q15672	TWST1_HUMAN	H	136	ENSP00000242261:P136H	ENSP00000242261:P136H	P	-	2	0	TWIST1	19123063	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.699000	0.98703	0.988000	0.38734	0.455000	0.32223	CCC		PASS	0.647	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207625.1	NM_000474		21	34	21	34	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44556482	44556482	+	Silent	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:44556482G>C	ENST00000289547.4	-	17	3475	c.3420C>G	c.(3418-3420)ctC>ctG	p.L1140L	NPC1L1_ENST00000381160.3_Silent_p.L1113L|NPC1L1_ENST00000546276.1_Silent_p.L1067L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1140					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.L1140L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGCATGAAGAGCCCCTCAG	0.607																																						uc003tlb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3418-3420)CTC>CTG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						76.0	71.0	73.0					7																	44556482		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44556482G>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3420C>G	7.37:g.44556482G>C						NPC1L1_uc003tlc.2_Silent_p.L1113L|NPC1L1_uc011kbw.1_Silent_p.L1067L|NPC1L1_uc003tla.2_Intron	p.L1140L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			17	3476	-			1140			Helical; Name=10; (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.3420C>G	CCDS5491.1																																																																																				PASS	0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		7	27	7	27	---	---	---	---
CCM2	83605	broad.mit.edu	37	7	45112369	45112369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:45112369G>T	ENST00000258781.6	+	7	939	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	CCM2_ENST00000541586.1_Nonsense_Mutation_p.E206*|CCM2_ENST00000474617.1_Nonsense_Mutation_p.E167*|CCM2_ENST00000544363.1_Nonsense_Mutation_p.E173*|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Nonsense_Mutation_p.E285*|CCM2_ENST00000475551.1_Nonsense_Mutation_p.E258*	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	264					blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)		p.E285*(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTACGAGGTGGAAGCCAGCAC	0.522																																						uc003tmo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(790-792)GAA>TAA		cerebral cavernous malformation 2 isoform 2							95.0	80.0	85.0					7																	45112369		2203	4300	6503	SO:0001587	stop_gained	83605	Familial_Cerebral_Cavernous_Angioma			endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45112369G>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.790G>T	7.37:g.45112369G>T	ENSP00000258781:p.Glu264*					CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Nonsense_Mutation_p.E206*|CCM2_uc003tmq.2_Intron|CCM2_uc003tmr.2_Nonsense_Mutation_p.E173*|CCM2_uc011kcc.1_3'UTR|CCM2_uc003tms.2_Nonsense_Mutation_p.E285*	p.E264*	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN			7	936	+			264					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Nonsense_Mutation	SNP	ENST00000258781.6	37	c.790G>T	CCDS5500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.961968|5.961968	0.97151|0.97151	.|.	.|.	ENSG00000136280|ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617|ENST00000480382	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.376195|.	0.32002|.	N|.	0.006733|.	.|T	.|0.74673	.|0.3747	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71902	.|-0.4452	.|3	0.44086|.	T|.	0.13|.	-7.827|-7.827	18.2398|18.2398	0.89963|0.89963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	264;206;173;258;285;167|130	.|.	ENSP00000258781:E264X|.	E|W	+|+	1|3	0|0	CCM2|CCM2	45078894|45078894	1.000000|1.000000	0.71417|0.71417	0.123000|0.123000	0.21794|0.21794	0.930000|0.930000	0.56654|0.56654	8.403000|8.403000	0.90208|0.90208	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|TGG		PASS	0.522	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		17	44	17	44	---	---	---	---
KCTD7	154881	broad.mit.edu	37	7	66103967	66103967	+	Silent	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:66103967C>G	ENST00000275532.3	+	4	802	c.618C>G	c.(616-618)ctC>ctG	p.L206L	KCTD7_ENST00000443322.1_Silent_p.L206L	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	206					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L206L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGTGTCCGCTCCTCAACTCCC	0.602																																						uc003tve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(616-618)CTC>CTG		potassium channel tetramerisation domain							117.0	105.0	109.0					7																	66103967		2203	4300	6503	SO:0001819	synonymous_variant	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103967C>G	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.618C>G	7.37:g.66103967C>G						RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Silent_p.L206L	p.L206L	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN			4	780	+			206					A4D2M4|Q8IVR0	Silent	SNP	ENST00000275532.3	37	c.618C>G	CCDS5534.1																																																																																				PASS	0.602	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		239	29	239	29	---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84666276	84666276	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:84666276C>A	ENST00000284136.6	-	10	1163	c.1120G>T	c.(1120-1122)Gct>Tct	p.A374S	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	374	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.A374S(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCTTATGAGCATATGGACCA	0.403																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(1120-1122)GCT>TCT		semaphorin 3D precursor							129.0	112.0	118.0					7																	84666276		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84666276C>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1120G>T	7.37:g.84666276C>A	ENSP00000284136:p.Ala374Ser					SEMA3D_uc010led.2_Missense_Mutation_p.A374S|SEMA3D_uc003uib.2_Missense_Mutation_p.A13S	p.A374S	NM_152754	NP_689967	O95025	SEM3D_HUMAN			10	1160	-			374			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1120G>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118591	0.94385	.	.	ENSG00000153993	ENST00000284136	T	0.11930	2.73	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48801	-0.9003	10	0.66056	D	0.02	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	374	O95025	SEM3D_HUMAN	S	374	ENSP00000284136:A374S	ENSP00000284136:A374S	A	-	1	0	SEMA3D	84504212	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.745000	0.85046	2.788000	0.95919	0.585000	0.79938	GCT		PASS	0.403	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		8	42	8	42	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92935226	92935226	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:92935226G>T	ENST00000305866.5	+	18	1667	c.1539G>T	c.(1537-1539)ttG>ttT	p.L513F	CCDC132_ENST00000544910.1_Missense_Mutation_p.L483F|CCDC132_ENST00000317751.6_Missense_Mutation_p.L244F|CCDC132_ENST00000541136.1_Missense_Mutation_p.L324F|CCDC132_ENST00000535481.1_Missense_Mutation_p.L233F	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	513						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L513F(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTGACCTTGTTTGAGCAGT	0.403																																						uc003umo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1537-1539)TTG>TTT		coiled-coil domain containing 132 isoform a							123.0	114.0	117.0					7																	92935226		1889	4097	5986	SO:0001583	missense	55610							g.chr7:92935226G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1539G>T	7.37:g.92935226G>T	ENSP00000307666:p.Leu513Phe					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L483F|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L233F	p.L513F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		18	1667	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		513					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1539G>T	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.216|8.216	0.801503|0.801503	0.16397|0.16397	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000458707|ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	.|T	.|0.45668	.|0.89	5.6|5.6	2.84|2.84	0.33178|0.33178	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.43456|0.43456	0.1248|0.1248	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.69078	.|0.995;0.997;0.995	.|D;D;D	.|0.78314	.|0.979;0.991;0.979	T|T	0.22347|0.22347	-1.0219|-1.0219	5|10	.|0.08381	.|T	.|0.77	-18.9203|-18.9203	10.5789|10.5789	0.45244|0.45244	0.2667:0.0:0.7333:0.0|0.2667:0.0:0.7333:0.0	.|.	.|233;483;513	.|B4DS55;F5H5U7;Q96JG6	.|.;.;CC132_HUMAN	F|F	300|513;483;324;233;244	.|ENSP00000325582:L244F	.|ENSP00000307666:L513F	C|L	+|+	2|3	0|2	CCDC132|CCDC132	92773162|92773162	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.916000|0.916000	0.54674|0.54674	1.994000|1.994000	0.40757|0.40757	0.411000|0.411000	0.25702|0.25702	0.650000|0.650000	0.86243|0.86243	TGT|TTG		PASS	0.403	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		15	31	15	31	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96639256	96639256	+	Missense_Mutation	SNP	C	C	T	rs374453064		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:96639256C>T	ENST00000518156.2	+	3	1209	c.779C>T	c.(778-780)tCg>tTg	p.S260L	DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.S132L|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.S232L			P56179	DLX6_HUMAN	distal-less homeobox 6	142					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S232L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTTTCTGCCTCGGCCAAGGGT	0.617																																						uc003uom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(694-696)TCG>TTG		distal-less homeobox 6		C	LEU/SER	1,4355		0,1,2177	33.0	36.0	35.0		779	5.8	1.0	7		35	1,8567		0,1,4283	no	missense	DLX6	NM_005222.3	145	0,2,6460	TT,TC,CC		0.0117,0.023,0.0155	benign	260/294	96639256	2,12922	2178	4284	6462	SO:0001583	missense	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639256C>T		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.779C>T	7.37:g.96639256C>T	ENSP00000428480:p.Ser260Leu					DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	p.S232L	NM_005222	NP_005213	P56179	DLX6_HUMAN			4	695	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		142					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	c.695C>T	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610410	0.87258	2.3E-4	1.17E-4	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.92249	-3.0;-2.93;-2.99	5.76	5.76	0.90799	.	0.051950	0.85682	D	0.000000	D	0.88202	0.6373	L	0.31420	0.93	0.80722	D	1	B	0.15473	0.013	B	0.17722	0.019	T	0.82301	-0.0525	10	0.23891	T	0.37	-8.6754	19.9738	0.97296	0.0:1.0:0.0:0.0	.	232	P56179-2	.	L	260;232;132	ENSP00000428480:S260L;ENSP00000007660:S232L;ENSP00000451635:S132L	ENSP00000007660:S232L	S	+	2	0	DLX6	96477192	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	4.694000	0.61760	2.732000	0.93576	0.655000	0.94253	TCG		PASS	0.617	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		9	8	9	8	---	---	---	---
TRIM56	81844	broad.mit.edu	37	7	100731192	100731192	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:100731192A>C	ENST00000306085.6	+	3	896	c.599A>C	c.(598-600)cAc>cCc	p.H200P		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	200					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H200P(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGGACCACCCCTGCCTG	0.692																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(598-600)CAC>CCC		tripartite motif-containing 56																																				SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100731192A>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.599A>C	7.37:g.100731192A>C	ENSP00000305161:p.His200Pro					TRIM56_uc003uxr.2_Missense_Mutation_p.H200P	p.H200P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	830	+	Lung NSC(181;0.136)|all_lung(186;0.182)		200			B box-type 2.		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.599A>C	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149230	0.57151	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	D;D	0.86366	-2.11;-2.11	3.99	3.99	0.46301	Zinc finger, B-box (3);	0.000000	0.45867	D	0.000325	D	0.93690	0.7984	M	0.91768	3.24	0.38881	D	0.956904	D;D	0.71674	0.998;0.998	D;D	0.77557	0.977;0.99	D	0.94594	0.7790	10	0.87932	D	0	.	9.5793	0.39477	1.0:0.0:0.0:0.0	.	200;200	C9JI91;Q9BRZ2	.;TRI56_HUMAN	P	200	ENSP00000305161:H200P;ENSP00000404186:H200P	ENSP00000305161:H200P	H	+	2	0	TRIM56	100517912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	2.024000	0.59613	0.533000	0.62120	CAC		PASS	0.692	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		4	3	4	3	---	---	---	---
HBP1	26959	broad.mit.edu	37	7	106836436	106836436	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:106836436T>A	ENST00000222574.4	+	9	1411	c.1225T>A	c.(1225-1227)Tct>Act	p.S409T	CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000468410.1_Missense_Mutation_p.S409T|HBP1_ENST00000485846.1_Missense_Mutation_p.S409T	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	409					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.S409T(1)		large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						ATCACAGCTCTCTTCCAATTC	0.458																																						uc003vdy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1225-1227)TCT>ACT		HMG-box transcription factor 1							115.0	110.0	112.0					7																	106836436		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106836436T>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1225T>A	7.37:g.106836436T>A	ENSP00000222574:p.Ser409Thr					HBP1_uc011klv.1_Missense_Mutation_p.S419T|HBP1_uc003vdz.2_Missense_Mutation_p.S409T|HBP1_uc003vea.2_Missense_Mutation_p.S409T|HBP1_uc003veb.1_Missense_Mutation_p.S409T	p.S409T	NM_012257	NP_036389	O60381	HBP1_HUMAN			9	1411	+			409					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.1225T>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626547	0.46840	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99080	-5.4;-5.4;-5.4	5.54	5.54	0.83059	.	0.098909	0.64402	D	0.000001	D	0.96204	0.8762	N	0.14661	0.345	0.46609	D	0.999126	P;B;B	0.39480	0.675;0.006;0.003	B;B;B	0.36464	0.225;0.005;0.002	D	0.96862	0.9633	10	0.52906	T	0.07	-16.8383	15.8453	0.78883	0.0:0.0:0.0:1.0	.	419;409;409	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	T	409;409;409;401	ENSP00000420500:S409T;ENSP00000222574:S409T;ENSP00000418738:S409T	ENSP00000222574:S409T	S	+	1	0	HBP1	106623672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.752000	0.55172	2.330000	0.79161	0.528000	0.53228	TCT		PASS	0.458	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		22	35	22	35	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123109370	123109370	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:123109370G>A	ENST00000466202.1	-	9	2055	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	IQUB_ENST00000434450.1_Silent_p.I493I|IQUB_ENST00000324698.6_Silent_p.I493I	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	493					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.I493I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCTGGCTCTGATGGTGAACT	0.358																																						uc003vkn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1477-1479)ATC>ATT		IQ motif and ubiquitin domain containing							146.0	136.0	140.0					7																	123109370		2203	4300	6503	SO:0001819	synonymous_variant	154865							g.chr7:123109370G>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1479C>T	7.37:g.123109370G>A						IQUB_uc003vko.2_Silent_p.I493I|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.I493I	p.I493I	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			9	2056	-			493					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.1479C>T	CCDS5787.1																																																																																				PASS	0.358	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		22	33	22	33	---	---	---	---
ATP6V0A4	50617	broad.mit.edu	37	7	138429990	138429990	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:138429990G>A	ENST00000310018.2	-	14	1638	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	ATP6V0A4_ENST00000393054.1_Silent_p.I452I|ATP6V0A4_ENST00000353492.4_Silent_p.I452I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	452					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.I452I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCATAAGTAGGATCAGATAGC	0.507																																						uc003vuf.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1354-1356)ATC>ATT		ATPase, H+ transporting, lysosomal V0 subunit							179.0	162.0	168.0					7																	138429990		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138429990G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1356C>T	7.37:g.138429990G>A						ATP6V0A4_uc003vug.2_Silent_p.I452I|ATP6V0A4_uc003vuh.2_Silent_p.I452I	p.I452I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			13	1594	-			452			Helical; (Potential).		A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.1356C>T	CCDS5849.1																																																																																				PASS	0.507	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		33	62	33	62	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701805	143701805	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr7:143701805G>A	ENST00000408922.2	+	1	784	c.716G>A	c.(715-717)tGt>tAt	p.C239Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C239Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTCTCCACTTGTGCCTCCCAT	0.433																																						uc003wdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(715-717)TGT>TAT		olfactory receptor, family 6, subfamily B,							186.0	177.0	180.0					7																	143701805		2023	4185	6208	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701805G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.716G>A	7.37:g.143701805G>A	ENSP00000386151:p.Cys239Tyr						p.C239Y	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	716	+	Melanoma(164;0.0783)		239			Helical; Name=6; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.716G>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617672	0.66787	.	.	ENSG00000221813	ENST00000408922	T	0.00369	7.74	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	U	0.001084	T	0.02156	0.0067	H	0.98446	4.235	0.40343	D	0.979055	D	0.89917	1.0	D	0.87578	0.998	T	0.03315	-1.1049	10	0.87932	D	0	.	16.2042	0.82108	0.0:0.0:1.0:0.0	.	239	O95007	OR6B1_HUMAN	Y	239	ENSP00000386151:C239Y	ENSP00000386151:C239Y	C	+	2	0	OR6B1	143332738	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.254000	0.58798	2.683000	0.91414	0.655000	0.94253	TGT		PASS	0.433	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			25	69	25	69	---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998583	8998583	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:8998583G>T	ENST00000310455.3	-	2	729	c.579C>A	c.(577-579)tcC>tcA	p.S193S	PPP1R3B_ENST00000519699.1_Silent_p.S193S|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	193	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.S193S(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TGATGTCGAAGGAGAACGTGT	0.478																																						uc003wsn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(577-579)TCC>TCA		protein phosphatase 1, regulatory (inhibitor)							198.0	164.0	175.0					8																	8998583		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998583G>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.579C>A	8.37:g.8998583G>T						PPP1R3B_uc003wso.3_Silent_p.S192S	p.S193S	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	744	-			193			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.579C>A	CCDS5973.1																																																																																				PASS	0.478	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		6	79	6	79	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24324415	24324415	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:24324415G>T	ENST00000175238.6	+	6	576	c.493G>T	c.(493-495)Ggt>Tgt	p.G165C	ADAM7_ENST00000380789.1_Missense_Mutation_p.G165C|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.G165C	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G165C(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGTGCCGTATGGTGCCAATTA	0.368																																						uc003xeb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(493-495)GGT>TGT		a disintegrin and metalloproteinase domain 7							111.0	116.0	114.0					8																	24324415		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324415G>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.493G>T	8.37:g.24324415G>T	ENSP00000175238:p.Gly165Cys					ADAM7_uc003xea.1_Missense_Mutation_p.G165C	p.G165C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	606	+		Prostate(55;0.0181)	165			Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.493G>T	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374599	0.24857	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.31769	2.31;1.48;1.48	5.2	-5.0	0.03001	.	0.983883	0.08284	N	0.969506	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	B;B	0.21147	0.052;0.052	B;B	0.12156	0.007;0.004	T	0.22173	-1.0224	10	0.56958	D	0.05	.	0.027	0.00004	0.3061:0.2212:0.19:0.2828	.	165;165	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	C	165	ENSP00000393073:G165C;ENSP00000175238:G165C;ENSP00000370166:G165C	ENSP00000175238:G165C	G	+	1	0	ADAM7	24380305	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.225000	0.09151	-0.883000	0.03982	-0.150000	0.13652	GGT		PASS	0.368	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		5	82	5	82	---	---	---	---
WRN	7486	broad.mit.edu	37	8	31015003	31015003	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:31015003G>C	ENST00000298139.5	+	33	4188	c.3939G>C	c.(3937-3939)caG>caC	p.Q1313H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1313					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.Q1313H(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAGAGGTTCAGAAGATTATTG	0.502			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(3937-3939)CAG>CAC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							69.0	61.0	64.0					8																	31015003		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31015003G>C		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3939G>C	8.37:g.31015003G>C	ENSP00000298139:p.Gln1313His					WRN_uc010lvk.2_Missense_Mutation_p.Q780H	p.Q1313H	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	33	4727	+		Breast(100;0.195)	1313					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3939G>C	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125715	0.37533	.	.	ENSG00000165392	ENST00000298139	T	0.55930	0.49	5.62	3.82	0.43975	.	0.452704	0.20673	N	0.087788	T	0.39091	0.1065	L	0.38531	1.155	0.22366	N	0.999164	B;B	0.16396	0.016;0.017	B;B	0.16289	0.006;0.015	T	0.26744	-1.0094	10	0.41790	T	0.15	-0.1048	6.8109	0.23805	0.19:0.1414:0.6686:0.0	.	723;1313	Q59F09;Q14191	.;WRN_HUMAN	H	1313	ENSP00000298139:Q1313H	ENSP00000298139:Q1313H	Q	+	3	2	WRN	31134545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.978000	0.29488	0.723000	0.32274	0.650000	0.86243	CAG		PASS	0.502	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			15	18	15	18	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35608161	35608161	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:35608161G>T	ENST00000404895.2	+	13	2325	c.1997G>T	c.(1996-1998)tGt>tTt	p.C666F	UNC5D_ENST00000449677.1_Missense_Mutation_p.C242F|UNC5D_ENST00000287272.2_Missense_Mutation_p.C597F|UNC5D_ENST00000420357.1_Missense_Mutation_p.C599F|UNC5D_ENST00000416672.1_Missense_Mutation_p.C671F|UNC5D_ENST00000453357.2_Missense_Mutation_p.C661F	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	666					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.C661F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTTTGCGTGTCATGTGCTC	0.488																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1996-1998)TGT>TTT		unc-5 homolog D precursor							252.0	210.0	224.0					8																	35608161		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608161G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1997G>T	8.37:g.35608161G>T	ENSP00000385143:p.Cys666Phe					UNC5D_uc003xjs.1_Missense_Mutation_p.C661F|UNC5D_uc003xju.1_Missense_Mutation_p.C242F	p.C666F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2325	+			666			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1997G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224536	0.79576	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.59906	0.26;0.67;0.65;0.26;0.23;2.08	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.81369	-0.0964	10	0.87932	D	0	-14.9377	20.2822	0.98520	0.0:0.0:1.0:0.0	.	242;661;666	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	F	666;599;597;671;661;242	ENSP00000385143:C666F;ENSP00000392739:C599F;ENSP00000287272:C597F;ENSP00000412652:C671F;ENSP00000394303:C661F;ENSP00000397211:C242F	ENSP00000287272:C597F	C	+	2	0	UNC5D	35727703	1.000000	0.71417	0.471000	0.27229	0.786000	0.44442	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	TGT		PASS	0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			149	63	149	63	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35624481	35624481	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:35624481T>C	ENST00000404895.2	+	15	2703	c.2375T>C	c.(2374-2376)cTg>cCg	p.L792P	UNC5D_ENST00000449677.1_Missense_Mutation_p.L368P|UNC5D_ENST00000287272.2_Missense_Mutation_p.L723P|UNC5D_ENST00000420357.1_Missense_Mutation_p.L725P|UNC5D_ENST00000416672.1_Missense_Mutation_p.L797P|UNC5D_ENST00000453357.2_Missense_Mutation_p.L787P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	792					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L787P(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCTTCTCCCTGGAGCGTTAT	0.582																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2374-2376)CTG>CCG		unc-5 homolog D precursor							108.0	92.0	98.0					8																	35624481		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35624481T>C	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2375T>C	8.37:g.35624481T>C	ENSP00000385143:p.Leu792Pro					UNC5D_uc003xjs.1_Missense_Mutation_p.L787P|UNC5D_uc003xju.1_Missense_Mutation_p.L368P	p.L792P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	15	2703	+			792			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2375T>C	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760499	0.89932	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.66099	-0.16;0.22;0.2;-0.16;-0.19;1.7	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.80999	0.4732	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.84066	0.0377	10	0.87932	D	0	-11.3745	15.9442	0.79782	0.0:0.0:0.0:1.0	.	368;787;792	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	P	792;725;723;797;787;368	ENSP00000385143:L792P;ENSP00000392739:L725P;ENSP00000287272:L723P;ENSP00000412652:L797P;ENSP00000394303:L787P;ENSP00000397211:L368P	ENSP00000287272:L723P	L	+	2	0	UNC5D	35744023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.166000	0.68216	0.533000	0.62120	CTG		PASS	0.582	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			14	122	14	122	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495087	39495087	+	Missense_Mutation	SNP	T	T	C	rs564249507		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:39495087T>C	ENST00000265707.5	+	9	737	c.692T>C	c.(691-693)cTg>cCg	p.L231P	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.L207P	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	231	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L231P(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACTGTTATACTGTCTTCCTTG	0.313																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(691-693)CTG>CCG		a disintegrin and metalloprotease domain 18							86.0	82.0	83.0					8																	39495087		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495087T>C	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.692T>C	8.37:g.39495087T>C	ENSP00000265707:p.Leu231Pro					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.L207P	p.L231P	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		9	692	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	231			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.692T>C	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782614	0.49891	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.78707	-1.2;-1.2	5.18	5.18	0.71444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.485488	0.15632	N	0.252338	D	0.88459	0.6442	M	0.85542	2.76	0.47994	D	0.999569	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88933	0.3374	10	0.87932	D	0	.	11.3985	0.49856	0.0:0.0:0.0:1.0	.	207;231	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	P	231;207;163	ENSP00000265707:L231P;ENSP00000369195:L207P	ENSP00000265707:L231P	L	+	2	0	ADAM18	39614244	0.345000	0.24835	0.005000	0.12908	0.843000	0.47879	4.059000	0.57470	2.196000	0.70406	0.529000	0.55759	CTG		PASS	0.313	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		8	33	8	33	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41804152	41804152	+	Silent	SNP	A	A	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:41804152A>C	ENST00000396930.3	-	13	2496	c.1953T>G	c.(1951-1953)ccT>ccG	p.P651P	KAT6A_ENST00000265713.2_Silent_p.P651P|KAT6A_ENST00000406337.1_Silent_p.P651P|KAT6A_ENST00000485568.1_Silent_p.P651P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	651	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P651P(1)									GCTGGTATTGAGGAAGAATCA	0.398																																						uc010lxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1951-1953)CCT>CCG		MYST histone acetyltransferase (monocytic							164.0	149.0	154.0					8																	41804152		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41804152A>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1953T>G	8.37:g.41804152A>C						MYST3_uc010lxc.2_Silent_p.P651P|MYST3_uc003xon.3_Silent_p.P651P|MYST3_uc010lxd.2_Silent_p.P651P	p.P651P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		13	2497	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	651			Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic.|Interaction with RUNX1-1.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.1953T>G	CCDS6124.1																																																																																				PASS	0.398	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	38	7	38	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52387662	52387662	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:52387662C>T	ENST00000356297.4	-	7	664	c.564G>A	c.(562-564)ctG>ctA	p.L188L	PXDNL_ENST00000543296.1_Silent_p.L188L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	188	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L188L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCAGCCACATCAGATCACAGT	0.517																																						uc003xqu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(562-564)CTG>CTA		peroxidasin homolog-like precursor							49.0	51.0	50.0					8																	52387662		1910	4144	6054	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52387662C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.564G>A	8.37:g.52387662C>T							p.L188L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			7	665	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	188			LRRCT.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.564G>A	CCDS47855.1																																																																																				PASS	0.517	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	34	5	34	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69002947	69002948	+	Nonsense_Mutation	DNP	GA	GA	TT			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:69002947_69002948GA>TT	ENST00000288368.4	+	20	2524_2525	c.2247_2248GA>TT	c.(2245-2250)acGAag>acTTag	p.K750*	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	750	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.K750*(4)|p.T749T(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCGGCCAACGAAGGTAAGTGG	0.47																																						uc003xxv.1																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2245-2247)ACG>ACT|c.(2248-2250)AAG>TAG		DEP domain containing 2 isoform a																																				SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69002947G>T|g.chr8:69002948A>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	Exception_encountered	8.37:g.69002947_69002948delinsTT	ENSP00000288368:p.Lys750*					PREX2_uc003xxu.1_Silent_p.T749T|PREX2_uc011lez.1_Silent_p.T684T|PREX2_uc003xxu.1_Nonsense_Mutation_p.K750*|PREX2_uc011lez.1_Nonsense_Mutation_p.K685*	p.T749T|p.K750*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			20	2274|2275	+			749|750			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent|Nonsense_Mutation	SNP	ENST00000288368.4	37	c.2247G>T|c.2248A>T	CCDS6201.1																																																																																				PASS	0.470	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		10|9	32|31	9	31	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87751931	87751931	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:87751931T>A	ENST00000320005.5	-	2	210	c.163A>T	c.(163-165)Acc>Tcc	p.T55S	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	55					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.T55S(1)|p.T55P(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTGACTTGGTTTTGAGAGAT	0.313																																						uc003ydx.2																			2	Substitution - Missense(2)	p.T55P(1)	lung(1)|pancreas(1)	ovary(2)|pancreas(1)	3						c.(163-165)ACC>TCC		cyclic nucleotide gated channel beta 3							182.0	157.0	165.0					8																	87751931		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87751931T>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.163A>T	8.37:g.87751931T>A	ENSP00000316605:p.Thr55Ser						p.T55S	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			2	209	-			55			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.163A>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	1.275	-0.611915	0.03690	.	.	ENSG00000170289	ENST00000320005	T	0.29917	1.55	4.36	1.79	0.24919	.	.	.	.	.	T	0.14527	0.0351	N	0.19112	0.55	0.23727	N	0.997006	B	0.14438	0.01	B	0.09377	0.004	T	0.33394	-0.9870	9	0.07644	T	0.81	.	4.8737	0.13646	0.0:0.3228:0.0:0.6772	.	55	Q9NQW8	CNGB3_HUMAN	S	55	ENSP00000316605:T55S	ENSP00000316605:T55S	T	-	1	0	CNGB3	87821047	0.519000	0.26242	0.879000	0.34478	0.828000	0.46876	0.374000	0.20501	0.651000	0.30788	0.533000	0.62120	ACC		PASS	0.313	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		13	35	13	35	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	87917412	87917412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:87917412G>T	ENST00000518476.1	+	3	313	c.262G>T	c.(262-264)Gag>Tag	p.E88*		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	88								p.E88*(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTCAAACAGGAGGAACAAAG	0.368																																						uc003ydy.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(262-264)GAG>TAG		cyclic nucleotide binding domain containing 1							63.0	57.0	59.0					8																	87917412		1865	4113	5978	SO:0001587	stop_gained	168975							g.chr8:87917412G>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.262G>T	8.37:g.87917412G>T	ENSP00000430073:p.Glu88*						p.E88*	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			3	310	+			88						Nonsense_Mutation	SNP	ENST00000518476.1	37	c.262G>T	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155747	0.78114	.	.	ENSG00000176571	ENST00000518476	.	.	.	4.55	3.66	0.41972	.	0.963516	0.08464	N	0.941973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	9.1219	0.36793	0.1056:0.0:0.8944:0.0	.	.	.	.	X	88	.	ENSP00000430073:E88X	E	+	1	0	CNBD1	87986528	0.001000	0.12720	0.009000	0.14445	0.314000	0.28054	0.768000	0.26590	1.204000	0.43247	0.563000	0.77884	GAG		PASS	0.368	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		8	17	8	17	---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94747128	94747128	+	Missense_Mutation	SNP	C	C	A	rs373549575|rs576822517	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:94747128C>A	ENST00000399300.2	-	3	1724	c.1511G>T	c.(1510-1512)cGa>cTa	p.R504L	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R504L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	504							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R504L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATGGTCACCTCGCTCACGTGA	0.403																																						uc003yfz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)CGA>CTA		RNA binding motif protein 12B							111.0	107.0	108.0					8																	94747128		1838	4090	5928	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747128C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1511G>T	8.37:g.94747128C>A	ENSP00000382239:p.Arg504Leu						p.R504L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1704	-	Breast(36;4.14e-07)		504					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1511G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	3.928	-0.016697	0.07681	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.09817	2.94;2.99	5.64	4.77	0.60923	.	0.082256	0.52532	D	0.000080	T	0.15609	0.0376	L	0.29908	0.895	0.24107	N	0.995853	D	0.55385	0.971	P	0.52066	0.689	T	0.08330	-1.0727	10	0.33940	T	0.23	-5.0721	17.1415	0.86755	0.0:0.8735:0.1265:0.0	.	504	Q8IXT5	RB12B_HUMAN	L	504	ENSP00000382239:R504L;ENSP00000427729:R504L	ENSP00000382239:R504L	R	-	2	0	RBM12B	94816304	1.000000	0.71417	0.804000	0.32291	0.002000	0.02628	4.751000	0.62169	1.527000	0.49086	-0.189000	0.12847	CGA		PASS	0.403	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		6	93	6	93	---	---	---	---
TRHR	7201	broad.mit.edu	37	8	110100339	110100339	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:110100339T>C	ENST00000518632.1	+	2	949	c.598T>C	c.(598-600)Tat>Cat	p.Y200H	TRHR_ENST00000311762.2_Missense_Mutation_p.Y200H			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	200					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.Y200H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGGTGTCTTTTATGTTGTGCC	0.388																																						uc003ymz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(598-600)TAT>CAT		thyrotropin-releasing hormone receptor							120.0	112.0	115.0					8																	110100339		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100339T>C		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.598T>C	8.37:g.110100339T>C	ENSP00000430711:p.Tyr200His						p.Y200H	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	614	+			200			Helical; Name=5; (Potential).		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.598T>C	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023885	0.75390	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.72505	-0.66;-0.66	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92787	0.6245	10	0.87932	D	0	-30.54	16.0034	0.80327	0.0:0.0:0.0:1.0	.	200	P34981	TRFR_HUMAN	H	200	ENSP00000430711:Y200H;ENSP00000309818:Y200H	ENSP00000309818:Y200H	Y	+	1	0	TRHR	110169515	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	8.033000	0.88852	2.371000	0.80710	0.533000	0.62120	TAT		PASS	0.388	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			11	39	11	39	---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588198	110588198	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:110588198C>A	ENST00000422135.1	-	8	1444	c.929G>T	c.(928-930)cGa>cTa	p.R310L	SYBU_ENST00000419099.1_Missense_Mutation_p.R309L|SYBU_ENST00000533171.1_Missense_Mutation_p.R310L|SYBU_ENST00000533065.1_Missense_Mutation_p.R191L|SYBU_ENST00000529175.1_Missense_Mutation_p.R104L|SYBU_ENST00000446070.2_Missense_Mutation_p.R309L|SYBU_ENST00000276646.9_Missense_Mutation_p.R310L|SYBU_ENST00000528647.1_Missense_Mutation_p.R309L|SYBU_ENST00000399066.3_Missense_Mutation_p.R307L|SYBU_ENST00000408908.2_Missense_Mutation_p.R310L|SYBU_ENST00000408889.3_Missense_Mutation_p.R191L|SYBU_ENST00000440310.1_Missense_Mutation_p.R310L|SYBU_ENST00000529690.1_Missense_Mutation_p.R180L|SYBU_ENST00000433638.1_Missense_Mutation_p.R310L|SYBU_ENST00000424158.2_Missense_Mutation_p.R315L|SYBU_ENST00000532779.1_Missense_Mutation_p.R242L|SYBU_ENST00000528331.1_Missense_Mutation_p.R191L|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533895.1_Missense_Mutation_p.R309L	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	310	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R307Q(1)|p.R307L(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCAGTCCTCTCGCATGCGGGC	0.443																																						uc003ynj.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(928-930)CGA>CTA		Golgi-localized syntaphilin-related protein							53.0	54.0	54.0					8																	110588198		1988	4214	6202	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588198C>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.929G>T	8.37:g.110588198C>A	ENSP00000407118:p.Arg310Leu					SYBU_uc003yni.3_Missense_Mutation_p.R307L|SYBU_uc003ynk.3_Missense_Mutation_p.R191L|SYBU_uc010mco.2_Missense_Mutation_p.R309L|SYBU_uc003ynl.3_Missense_Mutation_p.R309L|SYBU_uc010mcp.2_Missense_Mutation_p.R310L|SYBU_uc010mcq.2_Missense_Mutation_p.R310L|SYBU_uc003yno.3_Missense_Mutation_p.R191L|SYBU_uc010mcr.2_Missense_Mutation_p.R310L|SYBU_uc003ynm.3_Missense_Mutation_p.R309L|SYBU_uc003ynn.3_Missense_Mutation_p.R309L|SYBU_uc010mcs.2_Missense_Mutation_p.R191L|SYBU_uc010mct.2_Missense_Mutation_p.R310L|SYBU_uc010mcu.2_Missense_Mutation_p.R309L|SYBU_uc003ynp.3_Missense_Mutation_p.R242L|SYBU_uc010mcv.2_Missense_Mutation_p.R310L|SYBU_uc003ynh.3_Missense_Mutation_p.R104L|SYBU_uc011lhw.1_Missense_Mutation_p.R180L	p.R310L	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1092	-			310			Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.929G>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388796	0.82902	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.77103	2.36	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.995;0.998;0.998	D	0.84343	0.0528	9	0.87932	D	0	-23.7344	19.0385	0.92989	0.0:1.0:0.0:0.0	.	180;242;309;310;307	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	L	309;315;242;307;309;191;104;310;309;310;309;310;310;310;191;191;180;310	.	ENSP00000276646:R310L	R	-	2	0	SYBU	110657374	0.997000	0.39634	0.930000	0.37139	0.983000	0.72400	6.019000	0.70818	2.736000	0.93811	0.591000	0.81541	CGA		PASS	0.443	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		4	47	4	47	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113303805	113303805	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:113303805A>T	ENST00000297405.5	-	56	9152	c.8908T>A	c.(8908-8910)Ttt>Att	p.F2970I	CSMD3_ENST00000455883.2_Missense_Mutation_p.F2801I|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2930I|CSMD3_ENST00000352409.3_Missense_Mutation_p.F2900I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2970	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F2930I(1)|p.F2970I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAGATCCAAATAAAAAATAT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8908-8910)TTT>ATT		CUB and Sushi multiple domains 3 isoform 1							105.0	103.0	104.0					8																	113303805		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113303805A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8908T>A	8.37:g.113303805A>T	ENSP00000297405:p.Phe2970Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.F2172I|CSMD3_uc003ynt.2_Missense_Mutation_p.F2930I|CSMD3_uc011lhx.1_Missense_Mutation_p.F2801I	p.F2970I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			56	9067	-			2970			Extracellular (Potential).|Sushi 20.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8908T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301887	0.81136	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.59432	0.2193	N	0.04724	-0.175	0.49798	D	0.999821	D;D;D	0.67145	0.995;0.996;0.964	D;D;P	0.83275	0.987;0.996;0.62	T	0.59247	-0.7490	10	0.12766	T	0.61	.	16.0486	0.80740	1.0:0.0:0.0:0.0	.	2801;2970;2930	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2930;2970;2240;2801;2900	ENSP00000345799:F2930I;ENSP00000297405:F2970I;ENSP00000341558:F2240I;ENSP00000412263:F2801I;ENSP00000343124:F2900I	ENSP00000297405:F2970I	F	-	1	0	CSMD3	113372981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.183000	0.69458	0.533000	0.62120	TTT		PASS	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	49	14	49	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133816985	133816985	+	Splice_Site	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:133816985G>T	ENST00000395386.2	+	8	1146	c.847G>T	c.(847-849)Ggt>Tgt	p.G283C	PHF20L1_ENST00000395376.1_Splice_Site_p.G288C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Splice_Site_p.G257C|PHF20L1_ENST00000395379.1_Splice_Site_p.G283C|PHF20L1_ENST00000395390.2_Splice_Site_p.G258C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	283							zinc ion binding (GO:0008270)	p.G257C(2)|p.G283C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAAGATTACTGGTAAACTACA	0.338																																						uc003ytt.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(847-849)GGT>TGT		PHD finger protein 20-like 1 isoform 1							91.0	91.0	91.0					8																	133816985		2203	4300	6503	SO:0001630	splice_region_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133816985G>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.847+1G>T	8.37:g.133816985G>T						PHF20L1_uc003ytr.2_Missense_Mutation_p.G257C|PHF20L1_uc010mdv.2_Missense_Mutation_p.G257C|PHF20L1_uc003yts.2_Missense_Mutation_p.G283C|PHF20L1_uc011lja.1_Missense_Mutation_p.G257C|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Missense_Mutation_p.G122C	p.G283C	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		8	1172	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		283					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.847G>T	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	33	5.246555	0.95305	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.66099	-0.05;0.12;-0.19;0.71;-0.12;0.06;0.15;0.69	5.5	5.5	0.81552	.	0.209202	0.53938	D	0.000057	T	0.72203	0.3431	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;1.0;0.998;0.998;1.0	T	0.74657	-0.3592	10	0.72032	D	0.01	-13.322	18.372	0.90409	0.0:0.0:1.0:0.0	.	258;122;283;283;257	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	C	287;283;258;283;283;257;288;153;258;122	ENSP00000378781:G287C;ENSP00000378777:G283C;ENSP00000355301:G258C;ENSP00000378784:G283C;ENSP00000324519:G283C;ENSP00000338269:G257C;ENSP00000378775:G288C;ENSP00000378788:G258C	ENSP00000324519:G283C	G	+	1	0	PHF20L1	133886167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.810000	0.86072	2.596000	0.87737	0.585000	0.79938	GGT		PASS	0.338	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	Missense_Mutation	8	108	8	108	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141678480	141678480	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:141678480T>C	ENST00000522684.1	-	30	2982	c.2753A>G	c.(2752-2754)gAc>gGc	p.D918G	PTK2_ENST00000519465.1_Missense_Mutation_p.D546G|PTK2_ENST00000340930.3_Missense_Mutation_p.D931G|PTK2_ENST00000517712.1_5'UTR|PTK2_ENST00000535192.1_Missense_Mutation_p.D872G|PTK2_ENST00000430260.2_Missense_Mutation_p.D228G|PTK2_ENST00000517887.1_Missense_Mutation_p.D962G|PTK2_ENST00000395218.2_Missense_Mutation_p.D931G|PTK2_ENST00000519419.1_Missense_Mutation_p.D962G|PTK2_ENST00000538769.1_Missense_Mutation_p.D586G|PTK2_ENST00000521059.1_Missense_Mutation_p.D918G	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	918	Interaction with ARHGEF28. {ECO:0000250}.|Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.D873G(1)|p.D940G(1)|p.D931G(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATTCGACCGGTCCAGGTTGGC	0.542											OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yvu.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(2752-2754)GAC>GGC		PTK2 protein tyrosine kinase 2 isoform a							114.0	107.0	110.0					8																	141678480		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141678480T>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2753A>G	8.37:g.141678480T>C	ENSP00000429911:p.Asp918Gly		OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1665	PTK2_uc011ljp.1_Missense_Mutation_p.D226G|PTK2_uc003yvo.2_Missense_Mutation_p.D546G|PTK2_uc011ljq.1_Missense_Mutation_p.D616G|PTK2_uc003yvp.2_Missense_Mutation_p.D586G|PTK2_uc003yvq.2_Missense_Mutation_p.D423G|PTK2_uc003yvr.2_Missense_Mutation_p.D861G|PTK2_uc003yvs.2_Missense_Mutation_p.D872G|PTK2_uc003yvt.2_Missense_Mutation_p.D940G|PTK2_uc003yvv.2_Missense_Mutation_p.D821G|PTK2_uc011ljr.1_Missense_Mutation_p.D931G	p.D918G	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		30	2983	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	918			Interaction with TGFB1I1.|Interaction with RGNEF (By similarity).		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2753A>G	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945405	0.92593	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986	T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.81	5.81	0.92471	Focal adhesion kinase, targeting (FAT) domain (3);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.77103	2.36	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.996;0.998;0.992;0.998;0.991;0.992;0.994;0.984	T	0.73591	-0.3934	10	0.62326	D	0.03	.	16.1519	0.81629	0.0:0.0:0.0:1.0	.	931;616;841;918;940;872;873;745;586;546	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.;.	G	918;872;546;962;918;873;931;842;616;590;931;586;962;228;619	ENSP00000429911:D918G;ENSP00000438009:D872G;ENSP00000429170:D546G;ENSP00000429082:D962G;ENSP00000429474:D918G;ENSP00000378644:D931G;ENSP00000428492:D590G;ENSP00000341189:D931G;ENSP00000445742:D586G;ENSP00000429129:D962G;ENSP00000403416:D228G;ENSP00000430603:D619G	ENSP00000341189:D931G	D	-	2	0	PTK2	141747662	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.785000	0.85724	2.216000	0.71823	0.533000	0.62120	GAC		PASS	0.542	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		8	43	8	43	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145667759	145667759	+	Silent	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr8:145667759G>C	ENST00000409379.3	-	6	644	c.615C>G	c.(613-615)cgC>cgG	p.R205R	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	205					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.R205R(1)|p.R46R(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCAGGTTGTAGCGGGCGCGGA	0.647																																						uc011llg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(613-615)CGC>CGG		NF-kappa-B inhibitor-like protein 2							40.0	40.0	40.0					8																	145667759		2200	4298	6498	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145667759G>C		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.615C>G	8.37:g.145667759G>C							p.R205R	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		6	630	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		205			TPR 5.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.615C>G	CCDS34968.2																																																																																				PASS	0.647	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		5	21	5	21	---	---	---	---
TMEM261	90871	broad.mit.edu	37	9	7799633	7799633	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:7799633C>A	ENST00000358227.4	-	1	434	c.102G>T	c.(100-102)gcG>gcT	p.A34A	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	34						integral component of membrane (GO:0016021)		p.A34A(1)									GGGAGGTCGGCGCTCCGGGTG	0.672																																						uc003zki.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)GCG>GCT		Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.							26.0	31.0	29.0					9																	7799633		2202	4300	6502	SO:0001819	synonymous_variant	90871					integral to membrane		g.chr9:7799633C>A	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.102G>T	9.37:g.7799633C>A						C9orf123_uc003zkj.2_Silent_p.A34A	p.A34A			Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	146	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	34					A8K9B7|Q5T6Y9|Q9NT74	Silent	SNP	ENST00000358227.4	37	c.102G>T	CCDS34989.1																																																																																				PASS	0.672	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		6	11	6	11	---	---	---	---
PLIN2	123	broad.mit.edu	37	9	19120960	19120960	+	Silent	SNP	G	G	T	rs377563816		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:19120960G>T	ENST00000276914.2	-	5	692	c.513C>A	c.(511-513)ctC>ctA	p.L171L	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	171					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L171L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CACTGCTCACGAGCTGCATCA	0.498																																						uc003zno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(511-513)CTC>CTA		adipose differentiation-related protein							167.0	142.0	151.0					9																	19120960		2203	4300	6503	SO:0001819	synonymous_variant	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19120960G>T	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.513C>A	9.37:g.19120960G>T						PLIN2_uc011lna.1_Silent_p.L143L|PLIN2_uc011lnb.1_Intron	p.L171L	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			5	692	-			171					Q9BSC3	Silent	SNP	ENST00000276914.2	37	c.513C>A	CCDS6490.1																																																																																				PASS	0.498	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		4	74	4	74	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971065	21971065	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:21971065T>G	ENST00000304494.5	-	2	563	c.293A>C	c.(292-294)cAc>cCc	p.H98P	CDKN2A_ENST00000578845.2_Missense_Mutation_p.H47P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H47P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H98P|CDKN2A_ENST00000579755.1_Silent_p.A112A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H47P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H98P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H98P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H47P|CDKN2A_ENST00000361570.3_Silent_p.A153A|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H47P|CDKN2A_ENST00000530628.2_Silent_p.A112A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	98			H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H98P(3)|p.H98R(2)|p.H83fs*2(2)|p.A153A(1)|p.0(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.A68fs*3(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCGGCCCGGTGCAGCACCAC	0.746		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1371	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(1)|Substitution - coding silent(1)	p.0?(1112)|p.?(13)|p.H98R(2)|p.H83fs*2(2)|p.H98Y(1)|p.H98H(1)|p.H98P(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.A68fs*3(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(51)|ovary(36)|kidney(32)|breast(32)|pancreas(31)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(292-294)CAC>CCC		cyclin-dependent kinase inhibitor 2A isoform 1							14.0	17.0	16.0					9																	21971065		2184	4259	6443	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971065T>G	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.293A>C	9.37:g.21971065T>G	ENSP00000307101:p.His98Pro	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A153A	p.H98P	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	505	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	98		H -> P (in CMM2).|H -> Q (in CMM2).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.293A>C	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294681	0.60086	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.64438	-0.1;-0.1	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.68550	0.3013	.	.	.	0.80722	D	1	D	0.65815	0.995	P	0.52627	0.704	T	0.72074	-0.4400	8	0.59425	D	0.04	-16.5387	10.5899	0.45304	0.1439:0.0:0.0:0.8561	.	98	P42771	CD2A1_HUMAN	P	98	ENSP00000307101:H98P;ENSP00000394932:H98P	ENSP00000307101:H98P	H	-	2	0	CDKN2A	21961065	0.997000	0.39634	0.999000	0.59377	0.622000	0.37654	1.937000	0.40193	2.265000	0.75225	0.533000	0.62120	CAC		PASS	0.746	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	3	4	3	---	---	---	---
FAM221B	392307	broad.mit.edu	37	9	35825821	35825821	+	Missense_Mutation	SNP	C	C	A	rs370995357		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:35825821C>A	ENST00000423537.2	-	2	607	c.338G>T	c.(337-339)cGa>cTa	p.R113L	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	113								p.R113L(3)		endometrium(2)|kidney(1)|lung(4)	7						GACATAGTCTCGTGATTGGGG	0.493											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010mlc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(337-339)CGA>CTA		hypothetical protein LOC392307							149.0	148.0	149.0					9																	35825821		1915	4125	6040	SO:0001583	missense	392307							g.chr9:35825821C>A	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.338G>T	9.37:g.35825821C>A	ENSP00000415299:p.Arg113Leu		OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	858	C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Missense_Mutation_p.R113L	p.R113L	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	623	-	all_epithelial(49;0.161)		113					Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	c.338G>T	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	c	5.701	0.313786	0.10789	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.18016	2.51;2.24	3.77	-7.53	0.01336	.	6.156700	0.00508	N	0.000175	T	0.08313	0.0207	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18429	-1.0337	10	0.28530	T	0.3	8.2605	3.9605	0.09409	0.1098:0.1002:0.4785:0.3115	.	113	A6H8Z2	CI128_HUMAN	L	113	ENSP00000415299:R113L;ENSP00000367222:R113L	ENSP00000367222:R113L	R	-	2	0	C9orf128	35815821	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.977000	0.01495	-2.747000	0.00376	-0.373000	0.07131	CGA		PASS	0.493	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		8	281	8	281	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36087870	36087870	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:36087870C>A	ENST00000377966.3	+	9	1383	c.817C>A	c.(817-819)Cct>Act	p.P273T		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	273	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P273T(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATCTGTTCACCCTGGAGTCAC	0.453																																						uc003zyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(817-819)CCT>ACT		RECK protein precursor							149.0	132.0	138.0					9																	36087870		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36087870C>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.817C>A	9.37:g.36087870C>A	ENSP00000367202:p.Pro273Thr					RECK_uc003zyw.2_Missense_Mutation_p.P145T|RECK_uc003zyx.2_RNA	p.P273T	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		9	903	+			273			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.817C>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755578	0.49362	.	.	ENSG00000122707	ENST00000377966	T	0.47528	0.84	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	L	0.37561	1.115	0.39551	D	0.968977	B;B	0.22276	0.067;0.067	B;B	0.16289	0.015;0.015	T	0.17349	-1.0372	10	0.25106	T	0.35	-12.9609	13.4332	0.61068	0.1583:0.8417:0.0:0.0	.	273;273	A8K9D8;O95980	.;RECK_HUMAN	T	273	ENSP00000367202:P273T	ENSP00000367202:P273T	P	+	1	0	RECK	36077870	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.364000	0.44187	1.300000	0.44818	0.591000	0.81541	CCT		PASS	0.453	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			6	90	6	90	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36118794	36118794	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:36118794G>T	ENST00000377966.3	+	18	2860	c.2294G>T	c.(2293-2295)gGt>gTt	p.G765V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	765	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G765V(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGGCACAATGGTGAGACCTAC	0.542																																						uc003zyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2293-2295)GGT>GTT		RECK protein precursor							98.0	81.0	87.0					9																	36118794		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36118794G>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2294G>T	9.37:g.36118794G>T	ENSP00000367202:p.Gly765Val					RECK_uc003zyw.2_Missense_Mutation_p.G637V|RECK_uc003zyx.2_RNA	p.G765V	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		18	2380	+			765			Kazal-like 3.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2294G>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927744	0.73327	.	.	ENSG00000122707	ENST00000377966	T	0.12569	2.67	5.63	5.63	0.86233	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.124148	0.53938	D	0.000054	T	0.42630	0.1211	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66716	0.946;0.946	T	0.38950	-0.9637	10	0.87932	D	0	-17.1745	17.5463	0.87863	0.0:0.0:1.0:0.0	.	765;765	A8K9D8;O95980	.;RECK_HUMAN	V	765	ENSP00000367202:G765V	ENSP00000367202:G765V	G	+	2	0	RECK	36108794	1.000000	0.71417	0.930000	0.37139	0.572000	0.35998	7.429000	0.80309	2.826000	0.97356	0.655000	0.94253	GGT		PASS	0.542	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			35	34	35	34	---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100232913	100232913	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:100232913G>A	ENST00000355295.4	+	9	1998	c.1703G>A	c.(1702-1704)tGt>tAt	p.C568Y	TDRD7_ENST00000422139.2_Missense_Mutation_p.C494Y|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	568	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.C568Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CCGAAGTTTTGTTCACTCTCA	0.318																																						uc004axj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1702-1704)TGT>TAT		tudor domain containing 7							80.0	83.0	82.0					9																	100232913		2202	4298	6500	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100232913G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1703G>A	9.37:g.100232913G>A	ENSP00000347444:p.Cys568Tyr					TDRD7_uc011lux.1_Missense_Mutation_p.C494Y|TDRD7_uc010msp.1_Intron|TDRD7_uc011luy.1_5'UTR	p.C568Y	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			9	1928	+		Acute lymphoblastic leukemia(62;0.158)	568			Tudor 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1703G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	1.168	-0.641925	0.03531	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.09163	3.01;3.01	5.24	4.33	0.51752	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.407124	0.33144	N	0.005223	T	0.03651	0.0104	N	0.04508	-0.205	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.34428	-0.9829	10	0.02654	T	1	-6.8409	7.3406	0.26635	0.182:0.0:0.818:0.0	.	568	Q8NHU6	TDRD7_HUMAN	Y	568;494	ENSP00000347444:C568Y;ENSP00000413608:C494Y	ENSP00000347444:C568Y	C	+	2	0	TDRD7	99272734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.281000	0.43452	2.619000	0.88677	0.655000	0.94253	TGT		PASS	0.318	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		20	31	20	31	---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116812065	116812065	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:116812065A>T	ENST00000374126.5	+	15	2582	c.2483A>T	c.(2482-2484)aAg>aTg	p.K828M	ZNF618_ENST00000288466.7_Missense_Mutation_p.K735M|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	828					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.K828M(1)|p.K735M(1)|p.K745M(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ATCATCGGCAAGGTCTGTGAG	0.642																																						uc004bid.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2482-2484)AAG>ATG		zinc finger protein 618							57.0	64.0	62.0					9																	116812065		2067	4190	6257	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116812065A>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2483A>T	9.37:g.116812065A>T	ENSP00000363241:p.Lys828Met					ZNF618_uc004bic.2_Missense_Mutation_p.K735M|ZNF618_uc011lxi.1_Missense_Mutation_p.K795M|ZNF618_uc011lxj.1_Missense_Mutation_p.K796M|ZNF618_uc010mvb.2_Missense_Mutation_p.K418M	p.K828M	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	2582	+			828					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2483A>T		.	.	.	.	.	.	.	.	.	.	A	16.80	3.223653	0.58668	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22945	1.93;1.93	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.108657	0.64402	D	0.000010	T	0.52837	0.1759	.	.	.	0.50632	D	0.999884	D;D;D	0.76494	0.999;0.996;0.998	D;P;D	0.79784	0.993;0.804;0.929	T	0.57225	-0.7848	9	0.72032	D	0.01	-34.6247	15.3176	0.74092	1.0:0.0:0.0:0.0	.	795;828;735	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	M	828;735	ENSP00000363241:K828M;ENSP00000288466:K735M	ENSP00000288466:K735M	K	+	2	0	ZNF618	115851886	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.578000	0.74032	2.271000	0.75665	0.459000	0.35465	AAG		PASS	0.642	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		11	49	11	49	---	---	---	---
TRIM32	22954	broad.mit.edu	37	9	119461418	119461418	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:119461418G>T	ENST00000450136.1	+	2	1558	c.1397G>T	c.(1396-1398)aGg>aTg	p.R466M	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R466M	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	466					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R466M(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCCTGTCACAGGAGCCAGCTG	0.512																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(1396-1398)AGG>ATG		tripartite motif-containing 32							97.0	98.0	97.0					9																	119461418		2203	4300	6503	SO:0001583	missense	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461418G>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1397G>T	9.37:g.119461418G>T	ENSP00000408292:p.Arg466Met					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R466M	p.R466M	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	1555	+			466			NHL 3.		Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1397G>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663312	0.47572	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.90133	-2.62;-2.62	5.23	5.23	0.72850	Six-bladed beta-propeller, TolB-like (1);	0.064020	0.53938	D	0.000047	D	0.82669	0.5087	N	0.14661	0.345	0.46356	D	0.999	P	0.49253	0.921	B	0.39027	0.288	T	0.82862	-0.0247	9	.	.	.	-16.4207	18.8033	0.92027	0.0:0.0:1.0:0.0	.	466	Q13049	TRI32_HUMAN	M	466	ENSP00000408292:R466M;ENSP00000363095:R466M	.	R	+	2	0	TRIM32	118501239	1.000000	0.71417	0.969000	0.41365	0.999000	0.98932	6.871000	0.75531	2.435000	0.82474	0.650000	0.86243	AGG		PASS	0.512	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		6	75	6	75	---	---	---	---
OR1L6	392390	broad.mit.edu	37	9	125512589	125512589	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:125512589C>A	ENST00000373684.1	+	1	571	c.571C>A	c.(571-573)Cta>Ata	p.L191I	OR1L6_ENST00000304720.2_Missense_Mutation_p.L155I			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L191I(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CATCTCCCACCTACATTCCCT	0.507																																						uc011lzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)CTA>ATA		olfactory receptor, family 1, subfamily L,							171.0	131.0	144.0					9																	125512589		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512589C>A		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.571C>A	9.37:g.125512589C>A	ENSP00000362788:p.Leu191Ile						p.L191I	NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN			1	571	+			191			Helical; Name=4; (Potential).		Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.571C>A		.	.	.	.	.	.	.	.	.	.	.	15.03	2.713273	0.48517	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.43294	0.95;0.95	4.62	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.155728	0.29964	N	0.010744	T	0.38983	0.1061	L	0.54908	1.71	0.27033	N	0.964191	P	0.47604	0.898	P	0.47346	0.544	T	0.31503	-0.9941	10	0.59425	D	0.04	-5.6045	4.071	0.09882	0.0:0.5524:0.1798:0.2678	.	191	Q8NGR2	OR1L6_HUMAN	I	191;155	ENSP00000362788:L191I;ENSP00000304235:L155I	ENSP00000304235:L155I	L	+	1	2	OR1L6	124552410	0.000000	0.05858	0.985000	0.45067	0.914000	0.54420	-2.000000	0.01466	0.649000	0.30751	0.655000	0.94253	CTA		PASS	0.507	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				6	87	6	87	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130098406	130098406	+	Splice_Site	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:130098406G>T	ENST00000373387.4	+	11	1225		c.e11-1		GARNL3_ENST00000314904.5_Splice_Site|GARNL3_ENST00000435213.2_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCACTACAGGTGGAAAGGA	0.423																																						uc011mae.1																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e11-1		GTPase activating Rap/RanGAP domain-like 3							136.0	109.0	118.0					9																	130098406		2203	4300	6503	SO:0001630	splice_region_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130098406G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.874-1G>T	9.37:g.130098406G>T						GARNL3_uc011mad.1_Splice_Site_p.V270_splice|GARNL3_uc004bqt.1_Splice_Site_p.V73_splice	p.V292_splice	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			11	1275	+								B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Splice_Site	SNP	ENST00000373387.4	37	c.874_splice	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389817	0.82902	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1185	0.86695	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GARNL3	129138227	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.245000	0.95431	2.376000	0.81061	0.655000	0.94253	.		PASS	0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	Intron	5	68	5	68	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134471736	134471736	+	Missense_Mutation	SNP	C	C	G	rs369218533		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:134471736C>G	ENST00000372189.3	-	14	2203	c.2080G>C	c.(2080-2082)Gga>Cga	p.G694R	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.G711R|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.G712R	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	694	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.G712R(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCAGATCCTCCGCGGACGTCC	0.552																																						uc004cbc.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(2080-2082)GGA>CGA		guanine nucleotide-releasing factor 2 isoform a							83.0	94.0	90.0					9																	134471736		2136	4246	6382	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134471736C>G	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2080G>C	9.37:g.134471736C>G	ENSP00000361263:p.Gly694Arg					RAPGEF1_uc004cbb.2_Missense_Mutation_p.G712R|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.G869R|RAPGEF1_uc004cbd.2_Missense_Mutation_p.G699R	p.G694R	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	14	2210	-		Myeloproliferative disorder(178;0.204)	694			N-terminal Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.2080G>C	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.471886|4.471886	0.84533|0.84533	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686|ENST00000414781	T;T;T|T	0.54479|0.53640	0.57;0.57;0.57|0.61	5.57|5.57	5.57|5.57	0.84162|0.84162	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);|.	0.106709|.	0.64402|.	D|.	0.000004|.	T|T	0.67439|0.67439	0.2893|0.2893	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.74023|.	0.982;0.982;0.98|.	T|T	0.70178|0.70178	-0.4943|-0.4943	10|7	0.87932|0.72032	D|D	0|0.01	.|.	18.5364|18.5364	0.91011|0.91011	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	711;694;712|.	Q68DL3;Q13905;Q13905-3|.	.;RPGF1_HUMAN;.|.	R|P	694;711;640;694;712;674;672;139;711|121	ENSP00000361269:G711R;ENSP00000361263:G694R;ENSP00000361264:G712R|ENSP00000407210:R121P	ENSP00000266110:G694R|ENSP00000407210:R121P	G|R	-|-	1|2	0|0	RAPGEF1|RAPGEF1	133461557|133461557	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.653000|0.653000	0.38743|0.38743	7.434000|7.434000	0.80377|0.80377	2.615000|2.615000	0.88500|0.88500	0.561000|0.561000	0.74099|0.74099	GGA|CGG		PASS	0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		30	19	30	19	---	---	---	---
RXRA	6256	broad.mit.edu	37	9	137293518	137293518	+	Silent	SNP	G	G	T	rs201632105		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:137293518G>T	ENST00000481739.1	+	2	121	c.69G>T	c.(67-69)acG>acT	p.T23T	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	23	Modulating. {ECO:0000250}.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.T23T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCTCCCCGACGGGGCGAGGCT	0.657																																						uc004cfb.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(67-69)ACG>ACT		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)																																			SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137293518G>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.69G>T	9.37:g.137293518G>T						RXRA_uc004cfa.1_Missense_Mutation_p.G74W	p.T23T	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	2	231	+			23			Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.69G>T	CCDS35172.1																																																																																				PASS	0.657	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		28	24	28	24	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140637893	140637893	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr9:140637893G>T	ENST00000460843.1	+	5	921	c.894G>T	c.(892-894)ctG>ctT	p.L298L	EHMT1_ENST00000334856.6_Silent_p.L267L|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.L298L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	298					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.L298L(1)|p.L267L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTATAGCCTGGTTCCTAAGA	0.388																																						uc011mfc.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(1)	3						c.(892-894)CTG>CTT		euchromatic histone-lysine N-methyltransferase 1							87.0	83.0	84.0					9																	140637893		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637893G>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.894G>T	9.37:g.140637893G>T						EHMT1_uc004coa.2_Silent_p.L298L|EHMT1_uc004cob.1_Silent_p.L267L|EHMT1_uc010ncn.1_RNA	p.L298L	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	931	+	all_cancers(76;0.164)		298					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.894G>T	CCDS7050.2																																																																																				PASS	0.388	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		5	48	5	48	---	---	---	---
FBXO18	84893	broad.mit.edu	37	10	5959446	5959446	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:5959446G>A	ENST00000362091.4	+	11	1967	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	FBXO18_ENST00000397269.3_Missense_Mutation_p.E105K|FBXO18_ENST00000379999.5_Missense_Mutation_p.E669K	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	618					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.E669K(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GTGCACAGAAGAGGCGCACCA	0.562																																						uc001iis.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1852-1854)GAG>AAG		F-box only protein, helicase, 18 isoform 2							57.0	62.0	60.0					10																	5959446		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5959446G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1852G>A	10.37:g.5959446G>A	ENSP00000355415:p.Glu618Lys					FBXO18_uc001iir.2_Missense_Mutation_p.E544K|FBXO18_uc009xig.2_Missense_Mutation_p.E544K|FBXO18_uc001iit.2_Missense_Mutation_p.E669K	p.E618K	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			11	1947	+			618					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.1852G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169516	0.38315	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	D;D;D	0.82619	-1.63;-1.63;-1.63	5.51	5.51	0.81932	.	0.561087	0.20178	N	0.097583	T	0.69566	0.3125	N	0.19112	0.55	0.30496	N	0.770877	B;B;B	0.31837	0.175;0.342;0.067	B;B;B	0.25884	0.041;0.064;0.04	T	0.62817	-0.6774	10	0.10111	T	0.7	-22.1293	16.1913	0.81989	0.0:0.0:1.0:0.0	.	669;618;544	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	K	105;618;355;669;355	ENSP00000355415:E618K;ENSP00000369335:E669K;ENSP00000369330:E355K	ENSP00000355415:E618K	E	+	1	0	FBXO18	5999452	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	1.956000	0.40382	2.584000	0.87258	0.650000	0.86243	GAG		PASS	0.562	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		7	15	7	15	---	---	---	---
PFKFB3	5209	broad.mit.edu	37	10	6263484	6263484	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:6263484C>T	ENST00000379775.4	+	9	1302	c.972C>T	c.(970-972)atC>atT	p.I324I	PFKFB3_ENST00000317350.4_Silent_p.I324I|PFKFB3_ENST00000379785.1_Silent_p.I324I|PFKFB3_ENST00000379789.4_Silent_p.I304I|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Silent_p.I324I|PFKFB3_ENST00000360521.2_Silent_p.I324I|PFKFB3_ENST00000540253.1_Silent_p.I338I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	324	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.I324I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TCAATGAGATCGACGCGGTGA	0.662																																						uc001ije.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(970-972)ATC>ATT		6-phosphofructo-2-kinase/fructose-2,							37.0	33.0	35.0					10																	6263484		2203	4299	6502	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6263484C>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.972C>T	10.37:g.6263484C>T						PFKFB3_uc001ijd.2_Silent_p.I304I|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.I338I|PFKFB3_uc001ijf.2_Silent_p.I324I|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	p.I324I	NM_004566	NP_004557	Q16875	F263_HUMAN			9	1356	+			324			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.972C>T	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	C	1.809	-0.475202	0.04414	.	.	ENSG00000170525	ENST00000450232	.	.	.	5.54	-6.3	0.02007	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7026	12.2926	0.54827	0.0838:0.2872:0.0:0.629	.	.	.	.	X	40	.	.	R	+	1	2	PFKFB3	6303490	0.000000	0.05858	0.188000	0.23233	0.128000	0.20619	-2.311000	0.01128	-1.380000	0.02115	-1.105000	0.02106	CGA		PASS	0.662	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			6	11	6	11	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7679270	7679270	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:7679270G>T	ENST00000256861.6	-	5	651	c.573C>A	c.(571-573)atC>atA	p.I191I	ITIH5_ENST00000397146.2_Silent_p.I191I|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.I191I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	191					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I191I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGCTCTCCAGGATATTCACGT	0.652																																						uc001ijq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(571-573)ATC>ATA		inter-alpha trypsin inhibitor heavy chain							66.0	67.0	67.0					10																	7679270		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679270G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.573C>A	10.37:g.7679270G>T						ITIH5_uc001ijr.1_Silent_p.I191I	p.I191I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			5	652	-			191					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.573C>A																																																																																					PASS	0.652	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		14	34	14	34	---	---	---	---
OLAH	55301	broad.mit.edu	37	10	15107717	15107717	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:15107717C>T	ENST00000378228.3	+	6	791	c.537C>T	c.(535-537)atC>atT	p.I179I	OLAH_ENST00000378217.3_Silent_p.I232I|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	179					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)	p.I232I(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						GTAGTCCCATCATAAGGGCAG	0.353																																						uc001inu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(535-537)ATC>ATT		oleoyl-ACP hydrolase isoform 2							91.0	85.0	87.0					10																	15107717		2203	4300	6503	SO:0001819	synonymous_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15107717C>T	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.537C>T	10.37:g.15107717C>T						ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Silent_p.I232I	p.I179I	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			6	791	+			179					Q5VUB6|Q9NUW1	Silent	SNP	ENST00000378228.3	37	c.537C>T	CCDS31152.1																																																																																				PASS	0.353	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		6	49	6	49	---	---	---	---
STAM	8027	broad.mit.edu	37	10	17730044	17730044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:17730044G>T	ENST00000377524.3	+	5	531	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	106	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.E106*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TAAAGTATGTGAAAAATTAAA	0.303																																						uc001ipj.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(316-318)GAA>TAA		signal transducing adaptor molecule 1							85.0	92.0	89.0					10																	17730044		2203	4300	6503	SO:0001587	stop_gained	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17730044G>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.316G>T	10.37:g.17730044G>T	ENSP00000366746:p.Glu106*					STAM_uc010qcf.1_5'UTR	p.E106*	NM_003473	NP_003464	Q92783	STAM1_HUMAN			5	532	+			106			VHS.		B0YJ99|D3DRU5|Q8N6D9	Nonsense_Mutation	SNP	ENST00000377524.3	37	c.316G>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	38	7.132034	0.98085	.	.	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500	.	.	.	5.83	5.83	0.93111	.	0.093928	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-28.6836	20.1133	0.97917	0.0:0.0:1.0:0.0	.	.	.	.	X	106;56;9	.	ENSP00000366721:E9X	E	+	1	0	STAM	17770050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.796000	0.99103	2.762000	0.94881	0.591000	0.81541	GAA		PASS	0.303	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		5	84	5	84	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18284589	18284589	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:18284589G>T	ENST00000377369.2	+	10	1811	c.1538G>T	c.(1537-1539)aGc>aTc	p.S513I	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S512I|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S379I|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S476I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	513					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.S476I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAATAGAAAAGCCCAGAAGAT	0.353																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1537-1539)AGC>ATC		solute carrier family 39 (zinc transporter),							41.0	48.0	46.0					10																	18284589		2202	4298	6500	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18284589G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1538G>T	10.37:g.18284589G>T	ENSP00000366586:p.Ser513Ile					SLC39A12_uc001ipn.2_Missense_Mutation_p.S476I|SLC39A12_uc001ipp.2_Missense_Mutation_p.S512I|SLC39A12_uc010qck.1_Missense_Mutation_p.S379I	p.S513I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			10	1811	+			513			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1538G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857740	0.71834	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.52526	0.83;0.66;0.83;0.83	4.65	4.65	0.58169	.	0.542099	0.19109	N	0.122488	T	0.54711	0.1875	L	0.56396	1.775	0.36189	D	0.849928	P;P;P	0.52170	0.915;0.767;0.951	P;P;P	0.50896	0.653;0.609;0.653	T	0.64339	-0.6431	10	0.49607	T	0.09	-2.9067	14.7473	0.69499	0.0:0.0:1.0:0.0	.	512;513;476	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	I	513;476;512;379;433	ENSP00000366586:S513I;ENSP00000366591:S476I;ENSP00000366588:S512I;ENSP00000440445:S379I	ENSP00000366586:S513I	S	+	2	0	SLC39A12	18324595	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.795000	0.55499	2.579000	0.87056	0.650000	0.86243	AGC		PASS	0.353	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		7	63	7	63	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21108409	21108409	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:21108409C>A	ENST00000377122.4	-	20	2395	c.1999G>T	c.(1999-2001)Gta>Tta	p.V667L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	667					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.V667L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTCATGCTTACCGGAGTGGCC	0.438																																						uc001iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1999-2001)GTA>TTA		nebulette sarcomeric isoform							159.0	143.0	148.0					10																	21108409		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21108409C>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1999G>T	10.37:g.21108409C>A	ENSP00000366326:p.Val667Leu					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.V667L	NM_006393	NP_006384	O76041	NEBL_HUMAN			20	2396	-			667			Nebulin 19.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1999G>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948447	0.73787	.	.	ENSG00000078114	ENST00000377122	T	0.05649	3.41	6.03	6.03	0.97812	.	0.079417	0.50627	D	0.000120	T	0.21509	0.0518	M	0.84326	2.69	0.80722	D	1	D	0.61697	0.99	P	0.56088	0.791	T	0.11641	-1.0579	10	0.10636	T	0.68	.	19.1207	0.93362	0.0:1.0:0.0:0.0	.	667	O76041	NEBL_HUMAN	L	667	ENSP00000366326:V667L	ENSP00000366326:V667L	V	-	1	0	NEBL	21148415	0.004000	0.15560	0.135000	0.22099	0.465000	0.32709	0.130000	0.15850	2.861000	0.98227	0.655000	0.94253	GTA		PASS	0.438	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		22	115	22	115	---	---	---	---
SLC25A16	8034	broad.mit.edu	37	10	70253288	70253288	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:70253288A>T	ENST00000609923.1	-	5	559	c.461T>A	c.(460-462)gTt>gAt	p.V154D	SLC25A16_ENST00000539557.1_Missense_Mutation_p.V56D|SLC25A16_ENST00000265870.3_Intron	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	154					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)	p.V154D(1)		endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						GCGGACCCTAACCATGTCAAG	0.353																																						uc001joi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)GTT>GAT		solute carrier family 25, member 16							96.0	87.0	91.0					10																	70253288		2203	4300	6503	SO:0001583	missense	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70253288A>T	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.461T>A	10.37:g.70253288A>T	ENSP00000476815:p.Val154Asp					SLC25A16_uc010qix.1_Missense_Mutation_p.V20D|SLC25A16_uc010qiy.1_Missense_Mutation_p.V56D|SLC25A16_uc001joj.2_Missense_Mutation_p.V56D	p.V154D	NM_152707	NP_689920	P16260	GDC_HUMAN			5	913	-			154			Helical; Name=3; (Potential).|Solcar 2.		Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	c.461T>A	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.921925	0.92319	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	D;D	0.84442	-1.85;-1.85	5.49	5.49	0.81192	Mitochondrial carrier domain (2);	0.129460	0.53938	D	0.000060	D	0.94361	0.8187	H	0.94771	3.58	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.95823	0.8851	10	0.87932	D	0	-35.9116	15.5759	0.76387	1.0:0.0:0.0:0.0	.	154	P16260	GDC_HUMAN	D	154;56	ENSP00000265870:V154D;ENSP00000443914:V56D	ENSP00000265870:V154D	V	-	2	0	SLC25A16	69923294	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	9.112000	0.94314	2.073000	0.62155	0.460000	0.39030	GTT		PASS	0.353	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			15	53	15	53	---	---	---	---
C10orf54	64115	broad.mit.edu	37	10	73521605	73521605	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:73521605C>T	ENST00000394957.3	-	2	319	c.261G>A	c.(259-261)cgG>cgA	p.R87R	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	87	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R87R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGCGGATGGGCCGGCGCTCTG	0.652																																						uc001jsd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(259-261)CGG>CGA		platelet receptor Gi24 precursor							108.0	104.0	105.0					10																	73521605		2203	4300	6503	SO:0001819	synonymous_variant	64115					integral to membrane	receptor activity	g.chr10:73521605C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.261G>A	10.37:g.73521605C>T						CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Silent_p.R87R	p.R87R	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN			2	402	-			87			Ig-like.|Extracellular (Potential).		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	c.261G>A	CCDS31218.1																																																																																				PASS	0.652	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		10	38	10	38	---	---	---	---
LCOR	84458	broad.mit.edu	37	10	98715105	98715105	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:98715105A>G	ENST00000371097.4	+	8	1274	c.728A>G	c.(727-729)aAg>aGg	p.K243R	LCOR_ENST00000371103.3_Missense_Mutation_p.K243R|LCOR_ENST00000540664.1_Missense_Mutation_p.K243R|LCOR_ENST00000356016.3_Missense_Mutation_p.K243R|LCOR_ENST00000498444.1_Intron			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	243					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K243R(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GATGGAAAAAAGGATGTGAGC	0.433																																						uc001kms.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(727-729)AAG>AGG		ligand dependent nuclear receptor corepressor							74.0	75.0	74.0					10																	98715105		2203	4300	6503	SO:0001583	missense	84458					nucleus	DNA binding	g.chr10:98715105A>G		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.728A>G	10.37:g.98715105A>G	ENSP00000360138:p.Lys243Arg					LCOR_uc001kmr.2_Missense_Mutation_p.K243R|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.K243R|LCOR_uc001kmu.1_Missense_Mutation_p.K243R	p.K243R	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1249	+		Colorectal(252;0.162)	243					D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.728A>G	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	A	7.649	0.682583	0.14907	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.24	2.93	0.34026	.	0.257732	0.44285	N	0.000478	T	0.22244	0.0536	N	0.08118	0	0.27060	N	0.963565	B;B	0.15719	0.008;0.014	B;B	0.25140	0.026;0.058	T	0.17592	-1.0364	9	0.30854	T	0.27	-0.1771	8.8268	0.35061	0.8446:0.0:0.1554:0.0	.	243;243	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	R	243	.	ENSP00000348298:K243R	K	+	2	0	LCOR	98705095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.434000	0.44802	0.420000	0.25954	0.528000	0.53228	AAG		PASS	0.433	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			19	33	19	33	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102120670	102120671	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:102120670_102120671GG>CT	ENST00000370355.2	+	6	1441_1442	c.1060_1061GG>CT	c.(1060-1062)GGa>CTa	p.G354L		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	354					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.G354R(1)|p.G354V(1)|p.G354L(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AACCGGAGATGGAAACTACAAG	0.475																																					Colon(67;260 1459 9574 11663)	uc001kqy.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1060-1062)GGA>CGA|c.(1060-1062)GGA>GTA		stearoyl-CoA desaturase 1																																				SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102120670G>C|g.chr10:102120671G>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	Exception_encountered	10.37:g.102120670_102120671delinsCT	ENSP00000359380:p.Gly354Leu						p.G354R|p.G354V	NM_005063	NP_005054	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	6	1550|1551	+		Colorectal(252;0.0323)	354			Cytoplasmic (Potential).		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.1060G>C|c.1061G>T	CCDS7493.1																																																																																				PASS	0.475	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		12	27	12	27	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105836091	105836091	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:105836091C>A	ENST00000353479.5	-	5	589	c.299G>T	c.(298-300)aGg>aTg	p.R100M	COL17A1_ENST00000393211.3_Missense_Mutation_p.R100M|COL17A1_ENST00000369733.3_Missense_Mutation_p.R100M	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	100	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R100M(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGAGTTTTCCTTTCAAAGGT	0.522																																						uc001kxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(298-300)AGG>ATG		alpha 1 type XVII collagen							202.0	199.0	200.0					10																	105836091		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105836091C>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.299G>T	10.37:g.105836091C>A	ENSP00000340937:p.Arg100Met					COL17A1_uc010qqv.1_Missense_Mutation_p.R100M|COL17A1_uc009xxp.1_Missense_Mutation_p.R100M	p.R100M	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	5	468	-		Colorectal(252;0.103)|Breast(234;0.122)	100			Cytoplasmic (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.299G>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489916	0.64074	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.51574	0.7;0.7;0.7	5.61	5.61	0.85477	.	0.000000	0.50627	D	0.000101	T	0.70020	0.3176	M	0.71581	2.175	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.72239	-0.4351	10	0.87932	D	0	-19.9845	19.2325	0.93846	0.0:1.0:0.0:0.0	.	100;100;100	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	M	100	ENSP00000340937:R100M;ENSP00000358748:R100M;ENSP00000376905:R100M	ENSP00000340937:R100M	R	-	2	0	COL17A1	105826081	1.000000	0.71417	0.993000	0.49108	0.725000	0.41563	4.914000	0.63348	2.642000	0.89623	0.561000	0.74099	AGG		PASS	0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		5	72	5	72	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118321053	118321053	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:118321053G>A	ENST00000369221.2	+	12	1267	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	413	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.Q413Q(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGGACTTGCAGATGGTTAAAT	0.373																																						uc001lcm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1237-1239)CAG>CAA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						134.0	129.0	131.0					10																	118321053		2203	4300	6503	SO:0001819	synonymous_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118321053G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1239G>A	10.37:g.118321053G>A							p.Q413Q	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	12	1282	+			413			PLAT.		Q5VSQ2	Silent	SNP	ENST00000369221.2	37	c.1239G>A	CCDS7594.1																																																																																				PASS	0.373	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		17	33	17	33	---	---	---	---
CARS	833	broad.mit.edu	37	11	3050251	3050251	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:3050251G>T	ENST00000397111.5	-	8	1002	c.757C>A	c.(757-759)Cag>Aag	p.Q253K	CARS_ENST00000397114.3_Missense_Mutation_p.Q243K|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000278224.9_Missense_Mutation_p.Q253K|CARS_ENST00000401769.3_Missense_Mutation_p.Q266K|CARS_ENST00000380525.4_Missense_Mutation_p.Q336K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	253					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.Q253K(1)|p.Q336K(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACAATCTTCTGGACAAAGTTC	0.527			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	2	Substitution - Missense(2)		lung(2)	soft_tissue(5)|ovary(2)	7						c.(757-759)CAG>AAG		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						103.0	100.0	101.0					11																	3050251		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3050251G>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.757C>A	11.37:g.3050251G>T	ENSP00000380300:p.Gln253Lys					CARS_uc001lxe.2_Missense_Mutation_p.Q243K|CARS_uc001lxf.2_Missense_Mutation_p.Q336K|CARS_uc001lxg.2_Missense_Mutation_p.Q253K|CARS_uc010qxo.1_Missense_Mutation_p.Q336K|CARS_uc010qxp.1_Missense_Mutation_p.Q266K|uc001lxi.1_5'Flank	p.Q253K	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	8	831	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	253					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.757C>A	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353940	0.24512	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.43294	0.95;0.97;0.97;0.96;0.96	3.96	1.86	0.25419	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.570584	0.19664	N	0.108915	T	0.28101	0.0693	N	0.26130	0.795	0.32857	D	0.507449	B;B;B;B;B;B	0.14438	0.01;0.004;0.005;0.003;0.01;0.002	B;B;B;B;B;B	0.24974	0.057;0.029;0.02;0.003;0.039;0.006	T	0.29579	-1.0007	10	0.27082	T	0.32	-23.4431	9.3814	0.38316	0.0:0.2867:0.5662:0.1471	.	266;336;253;253;336;243	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	K	336;253;253;243;266	ENSP00000369897:Q336K;ENSP00000380300:Q253K;ENSP00000278224:Q253K;ENSP00000380303:Q243K;ENSP00000384069:Q266K	ENSP00000278224:Q253K	Q	-	1	0	CARS	3006827	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	2.307000	0.43682	0.814000	0.34374	0.555000	0.69702	CAG		PASS	0.527	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		6	89	6	89	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4104506	4104506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:4104506G>T	ENST00000300737.4	+	10	1821	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	STIM1_ENST00000527651.1_Nonsense_Mutation_p.E418*|STIM1_ENST00000533977.1_Nonsense_Mutation_p.E245*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	418	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.E418*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGCACTGAGCGAGGTGACAGC	0.542																																						uc001lyv.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1252-1254)GAG>TAG		stromal interaction molecule 1 precursor							68.0	67.0	68.0					11																	4104506		2201	4298	6499	SO:0001587	stop_gained	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104506G>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1252G>T	11.37:g.4104506G>T	ENSP00000300737:p.Glu418*					STIM1_uc009yef.2_Nonsense_Mutation_p.E418*|STIM1_uc009yeg.2_Nonsense_Mutation_p.E245*	p.E418*	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	10	1820	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	418			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Nonsense_Mutation	SNP	ENST00000300737.4	37	c.1252G>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835879	0.97003	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.7169	18.6802	0.91544	0.0:0.0:1.0:0.0	.	.	.	.	X	418;418;245	.	ENSP00000300737:E418X	E	+	1	0	STIM1	4061082	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.461000	0.97646	2.671000	0.90904	0.455000	0.32223	GAG		PASS	0.542	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		4	52	4	52	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7981752	7981752	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:7981752G>A	ENST00000328600.2	-	2	1568	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	469	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.F469F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAGTCCTGGAAGCTGATGT	0.512																																						uc001mfv.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1405-1407)TTC>TTT		NLR family, pyrin domain containing 10							99.0	109.0	105.0					11																	7981752		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7981752G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1407C>T	11.37:g.7981752G>A							p.F469F	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1424	-			469			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.1407C>T	CCDS7784.1																																																																																				PASS	0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		13	72	13	72	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26619981	26619981	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:26619981G>T	ENST00000256737.3	+	15	2369	c.1517G>T	c.(1516-1518)tGg>tTg	p.W506L	ANO3_ENST00000537978.1_Missense_Mutation_p.W490L|ANO3_ENST00000525139.1_Missense_Mutation_p.W490L|ANO3_ENST00000531568.1_Missense_Mutation_p.W360L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	506					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.W506L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTTATCGAATGGGAAGAAGAG	0.403																																						uc001mqt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1516-1518)TGG>TTG		transmembrane protein 16C							120.0	119.0	119.0					11																	26619981		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619981G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1517G>T	11.37:g.26619981G>T	ENSP00000256737:p.Trp506Leu					ANO3_uc010rdr.1_Missense_Mutation_p.W490L|ANO3_uc010rds.1_Missense_Mutation_p.W345L|ANO3_uc010rdt.1_Missense_Mutation_p.W360L	p.W506L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			15	1662	+			506			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1517G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867811	0.72065	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	N	0.20845	0.615	0.80722	D	1	P;P	0.48294	0.908;0.776	P;P	0.55615	0.78;0.515	T	0.56220	-0.8015	10	0.31617	T	0.26	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	408;506	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	L	490;490;506;408;360	ENSP00000440737:W490L;ENSP00000432576:W490L;ENSP00000256737:W506L;ENSP00000432394:W360L	ENSP00000256737:W506L	W	+	2	0	ANO3	26576557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	TGG		PASS	0.403	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		24	61	24	61	---	---	---	---
CD44	960	broad.mit.edu	37	11	35250813	35250813	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:35250813C>A	ENST00000428726.2	+	18	2285	c.2162C>A	c.(2161-2163)cCa>cAa	p.P721Q	CD44_ENST00000360158.4_Missense_Mutation_p.P375Q|CD44_ENST00000278386.6_Silent_p.S133S|CD44_ENST00000434472.2_Missense_Mutation_p.P408Q|CD44_ENST00000437706.2_Missense_Mutation_p.P653Q|CD44_ENST00000449691.2_Missense_Mutation_p.P678Q|CD44_ENST00000352818.4_Missense_Mutation_p.P319Q|CD44_ENST00000433354.2_Missense_Mutation_p.P693Q|CD44_ENST00000263398.6_Missense_Mutation_p.P340Q|CD44_ENST00000415148.2_Missense_Mutation_p.P678Q|CD44_ENST00000433892.2_Missense_Mutation_p.P472Q|CD44_ENST00000526669.2_Missense_Mutation_p.P185Q	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	721					blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.P721Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TCAGAAACTCCAGACCAGTTT	0.478																																						uc001mvu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2161-2163)CCA>CAA		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						169.0	159.0	162.0					11																	35250813		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35250813C>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.2162C>A	11.37:g.35250813C>A	ENSP00000398632:p.Pro721Gln					CD44_uc001mvv.2_Missense_Mutation_p.P678Q|CD44_uc001mvw.2_Missense_Mutation_p.P472Q|CD44_uc001mvx.2_Missense_Mutation_p.P340Q|CD44_uc001mvy.2_Silent_p.S133S|CD44_uc001mwc.3_Missense_Mutation_p.P408Q|CD44_uc010rer.1_Missense_Mutation_p.P319Q|CD44_uc009ykh.2_RNA	p.P721Q	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		18	2596	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	721			Cytoplasmic (Potential).		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.2162C>A	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105123	0.01828	.	.	ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000526669;ENST00000279452;ENST00000525469	T;T;T;T;T;T;T;T;T;T;T	0.21031	2.84;3.18;3.2;3.01;3.2;3.01;3.18;3.01;2.61;2.85;2.03	5.93	0.0888	0.14456	.	0.547660	0.18884	N	0.128491	T	0.07818	0.0196	N	0.02916	-0.46	0.09310	N	1	B;B;B;P;B;B	0.34864	0.012;0.104;0.01;0.473;0.047;0.051	B;B;B;B;B;B	0.34824	0.008;0.054;0.042;0.19;0.015;0.02	T	0.36138	-0.9760	10	0.25751	T	0.34	-18.5866	9.7603	0.40528	0.5701:0.2167:0.2131:0.0	.	319;408;340;472;678;721	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070	.;.;.;.;.;CD44_HUMAN	Q	340;678;693;678;653;375;721;472;408;319;164;269;61	ENSP00000263398:P340Q;ENSP00000389830:P678Q;ENSP00000414567:P693Q;ENSP00000391008:P678Q;ENSP00000403990:P653Q;ENSP00000353280:P375Q;ENSP00000398632:P721Q;ENSP00000392331:P472Q;ENSP00000404447:P408Q;ENSP00000309732:P319Q;ENSP00000279452:P269Q	ENSP00000263398:P340Q	P	+	2	0	CD44	35207389	0.000000	0.05858	0.062000	0.19696	0.006000	0.05464	-0.047000	0.11963	0.089000	0.17243	-0.182000	0.12963	CCA		PASS	0.478	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		7	168	7	168	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45274068	45274068	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:45274068G>A	ENST00000020926.3	-	4	861	c.750C>T	c.(748-750)tcC>tcT	p.S250S	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	250	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.S250S(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CGCTGTGACGGGAGAAGCGGT	0.687											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(748-750)TCC>TCT		synaptotagmin XIII							47.0	46.0	46.0					11																	45274068		2203	4298	6501	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45274068G>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.750C>T	11.37:g.45274068G>A			OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Silent_p.S106S	p.S250S	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	876	-			250			Cytoplasmic (Potential).|C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.750C>T	CCDS31470.1																																																																																				PASS	0.687	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		13	33	13	33	---	---	---	---
C11orf49	79096	broad.mit.edu	37	11	47073976	47073976	+	Nonsense_Mutation	SNP	C	C	T	rs14051		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:47073976C>T	ENST00000278460.7	+	3	246	c.187C>T	c.(187-189)Cga>Tga	p.R63*	C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Nonsense_Mutation_p.R63*|C11orf49_ENST00000378618.2_Nonsense_Mutation_p.R63*|C11orf49_ENST00000395460.2_Nonsense_Mutation_p.R63*|C11orf49_ENST00000543718.1_Intron	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	63						nucleus (GO:0005634)		p.R63*(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CATTCTCTTTCGAGAATTCAG	0.453																																						uc001ndp.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(187-189)CGA>TGA		hypothetical protein LOC79096 isoform 3							150.0	148.0	149.0					11																	47073976		2201	4299	6500	SO:0001587	stop_gained	79096							g.chr11:47073976C>T	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.187C>T	11.37:g.47073976C>T	ENSP00000278460:p.Arg63*					C11orf49_uc001nds.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndq.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndr.2_Nonsense_Mutation_p.R63*|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Nonsense_Mutation_p.R54*|C11orf49_uc010rgz.1_Intron	p.R63*	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN			3	293	+			63					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Nonsense_Mutation	SNP	ENST00000278460.7	37	c.187C>T	CCDS7925.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617081	0.96649	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0112	15.2928	0.73879	0.14:0.86:0.0:0.0	rs14051;rs1801640	.	.	.	X	63	.	ENSP00000278460:R63X	R	+	1	2	C11orf49	47030552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.335000	0.52105	2.861000	0.98227	0.655000	0.94253	CGA		PASS	0.453	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113		28	60	28	60	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136361	55136361	+	Silent	SNP	A	A	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:55136361A>C	ENST00000314706.3	+	1	1002	c.1002A>C	c.(1000-1002)gtA>gtC	p.V334V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	334						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V334V(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTAAAAAAGTAAGCTTAGCTG	0.368																																						uc010rif.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1000-1002)GTA>GTC		olfactory receptor, family 4, subfamily A,							88.0	90.0	89.0					11																	55136361		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136361A>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.1002A>C	11.37:g.55136361A>C							p.V334V	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	1002	+			334			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.1002A>C	CCDS31500.1																																																																																				PASS	0.368	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		15	59	15	59	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563596	55563596	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:55563596G>C	ENST00000335605.1	+	1	565	c.565G>C	c.(565-567)Gtg>Ctg	p.V189L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V189L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCTCATCTCTGTGTCTGGCTC	0.448																																						uc010rim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(565-567)GTG>CTG		olfactory receptor, family 5, subfamily D,							218.0	213.0	215.0					11																	55563596		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563596G>C	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.565G>C	11.37:g.55563596G>C	ENSP00000334456:p.Val189Leu						p.V189L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	565	+		all_epithelial(135;0.196)	189			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.565G>C	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.803861	0.00611	.	.	ENSG00000186113	ENST00000335605	T	0.00002	9.87	5.08	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000974	T	0.00012	0.0000	N	0.00321	-1.65	0.32398	N	0.5524	B	0.10296	0.003	B	0.15484	0.013	T	0.01030	-1.1475	10	0.02654	T	1	-33.0176	8.8216	0.35030	0.0885:0.4811:0.4304:0.0	.	189	Q8NGL3	OR5DE_HUMAN	L	189	ENSP00000334456:V189L	ENSP00000334456:V189L	V	+	1	0	OR5D14	55320172	0.001000	0.12720	0.729000	0.30791	0.003000	0.03518	-0.020000	0.12525	0.529000	0.28599	-0.148000	0.13756	GTG		PASS	0.448	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		19	84	19	84	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587562	55587562	+	Missense_Mutation	SNP	G	G	A	rs371559921		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:55587562G>A	ENST00000333976.4	+	1	477	c.457G>A	c.(457-459)Gga>Aga	p.G153R		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G153R(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTATGCCTGGGGAGTCTCATG	0.478																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(457-459)GGA>AGA		olfactory receptor, family 5, subfamily D,		G	ARG/GLY	0,4400		0,0,2200	191.0	180.0	184.0		457	3.0	0.1	11		184	1,8591		0,1,4295	no	missense	OR5D18	NM_001001952.1	125	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	153/314	55587562	1,12991	2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587562G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.457G>A	11.37:g.55587562G>A	ENSP00000335025:p.Gly153Arg						p.G153R	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	457	+		all_epithelial(135;0.208)	153			Helical; Name=4; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.457G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.589167	0.28357	0.0	1.16E-4	ENSG00000186119	ENST00000333976	T	0.40476	1.03	4.85	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001574	T	0.70202	0.3197	H	0.95645	3.7	0.30852	N	0.734433	D	0.71674	0.998	D	0.66716	0.946	T	0.75482	-0.3302	10	0.87932	D	0	-10.7793	10.4528	0.44533	0.1625:0.0:0.8375:0.0	.	153	Q8NGL1	OR5DI_HUMAN	R	153	ENSP00000335025:G153R	ENSP00000335025:G153R	G	+	1	0	OR5D18	55344138	0.913000	0.31002	0.100000	0.21137	0.015000	0.08874	1.984000	0.40658	0.615000	0.30124	0.567000	0.79289	GGA		PASS	0.478	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		12	84	12	84	---	---	---	---
UBE2L6	9246	broad.mit.edu	37	11	57319960	57319960	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:57319960C>A	ENST00000287156.4	-	4	528	c.333G>T	c.(331-333)ctG>ctT	p.L111L	UBE2L6_ENST00000340573.4_Silent_p.L45L	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	111					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.L111L(1)		large_intestine(1)|lung(3)|ovary(1)	5						GTCTATTCACCAGCACATTGA	0.572																																						uc001nkn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(331-333)CTG>CTT		ubiquitin-conjugating enzyme E2L 6 isoform 1							134.0	127.0	130.0					11																	57319960		2201	4296	6497	SO:0001819	synonymous_variant	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57319960C>A	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.333G>T	11.37:g.57319960C>A						UBE2L6_uc001nko.1_Silent_p.L45L	p.L111L	NM_004223	NP_004214	O14933	UB2L6_HUMAN			4	429	-			111					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	c.333G>T	CCDS7960.1																																																																																				PASS	0.572	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		5	92	5	92	---	---	---	---
OR4D9	390199	broad.mit.edu	37	11	59282973	59282973	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:59282973G>T	ENST00000329328.3	+	1	588	c.588G>T	c.(586-588)gaG>gaT	p.E196D		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E196D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TCACTCTGGAGCTCCTGATGA	0.468																																						uc010rkv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GAG>GAT		olfactory receptor, family 4, subfamily D,							188.0	161.0	170.0					11																	59282973		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282973G>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.588G>T	11.37:g.59282973G>T	ENSP00000328563:p.Glu196Asp						p.E196D	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	588	+			196			Helical; Name=5; (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.588G>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	8.904	0.956998	0.18507	.	.	ENSG00000172742	ENST00000329328	T	0.00249	8.44	4.44	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	U	0.000756	T	0.00440	0.0014	M	0.77103	2.36	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.46386	-0.9195	10	0.44086	T	0.13	-7.5341	7.4486	0.27225	0.3587:0.0:0.6413:0.0	.	196	Q8NGE8	OR4D9_HUMAN	D	196	ENSP00000328563:E196D	ENSP00000328563:E196D	E	+	3	2	OR4D9	59039549	0.000000	0.05858	0.051000	0.19133	0.051000	0.14879	-0.713000	0.05007	0.097000	0.17492	-0.262000	0.10625	GAG		PASS	0.468	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		15	72	15	72	---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65766854	65766854	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:65766854G>T	ENST00000312234.2	-	5	654	c.320C>A	c.(319-321)tCt>tAt	p.S107Y	EIF1AD_ENST00000533544.1_Missense_Mutation_p.S107Y|BANF1_ENST00000312175.2_5'Flank|EIF1AD_ENST00000525767.1_Missense_Mutation_p.S55Y|BANF1_ENST00000445560.2_5'Flank|EIF1AD_ENST00000529964.1_Missense_Mutation_p.S107Y|EIF1AD_ENST00000526451.1_Missense_Mutation_p.S107Y|EIF1AD_ENST00000527249.1_Missense_Mutation_p.S107Y	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	107						intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)	p.S107Y(1)		lung(5)	5						AGCCACTTCAGAGAAGGCCTC	0.498																																						uc001ogm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)TCT>TAT		eukaryotic translation initiation factor 1A							315.0	306.0	309.0					11																	65766854		2201	4296	6497	SO:0001583	missense	84285					nucleus	translation initiation factor activity	g.chr11:65766854G>T	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.320C>A	11.37:g.65766854G>T	ENSP00000309175:p.Ser107Tyr					EIF1AD_uc001ogn.1_Missense_Mutation_p.S107Y|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	p.S107Y	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN			5	605	-			107					B2R4N5|Q9BSC1	Missense_Mutation	SNP	ENST00000312234.2	37	c.320C>A	CCDS8124.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710964	0.68730	.	.	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000525767;ENST00000529964;ENST00000533544;ENST00000527249;ENST00000530462;ENST00000532707	T;T;T;T;T;T;T;T	0.45668	1.49;1.49;0.89;0.89;1.49;1.49;0.93;0.93	4.66	4.66	0.58398	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.291563	0.33457	N	0.004887	T	0.48390	0.1497	L	0.60455	1.87	0.38100	D	0.937231	D	0.60575	0.988	P	0.50049	0.629	T	0.58370	-0.7648	10	0.66056	D	0.02	.	13.0684	0.59046	0.0:0.0:1.0:0.0	.	107	Q8N9N8	EIF1A_HUMAN	Y	107;107;55;107;107;107;107;107	ENSP00000436644:S107Y;ENSP00000309175:S107Y;ENSP00000434796:S55Y;ENSP00000435942:S107Y;ENSP00000434056:S107Y;ENSP00000435439:S107Y;ENSP00000435891:S107Y;ENSP00000433320:S107Y	ENSP00000309175:S107Y	S	-	2	0	EIF1AD	65523430	0.996000	0.38824	0.998000	0.56505	0.908000	0.53690	2.955000	0.49121	2.130000	0.65690	0.462000	0.41574	TCT		PASS	0.498	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		9	290	9	290	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66571479	66571479	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:66571479G>T	ENST00000360962.4	+	9	863	c.856G>T	c.(856-858)Ggt>Tgt	p.G286C	C11orf80_ENST00000532565.2_Missense_Mutation_p.G67C|C11orf80_ENST00000346672.4_Missense_Mutation_p.G132C|C11orf80_ENST00000527634.1_Missense_Mutation_p.G68C|C11orf80_ENST00000525449.2_Missense_Mutation_p.G131C|C11orf80_ENST00000540737.1_Missense_Mutation_p.G121C	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	286								p.G286C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						ACCAAATTTTGGTACAATTGA	0.368																																						uc001ojf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GGT>TGT		hypothetical protein LOC79703							171.0	166.0	168.0					11																	66571479		1952	4139	6091	SO:0001583	missense	79703							g.chr11:66571479G>T			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.856G>T	11.37:g.66571479G>T	ENSP00000354227:p.Gly286Cys					C11orf80_uc001ojg.2_Missense_Mutation_p.G52C|C11orf80_uc001ojh.2_Missense_Mutation_p.G53C|C11orf80_uc001oji.2_Missense_Mutation_p.G53C|C11orf80_uc010rpk.1_Missense_Mutation_p.G121C	p.G286C	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN			9	863	+			131					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.856G>T	CCDS53664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.761|9.761	1.170211|1.170211	0.21621|0.21621	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000524551;ENST00000525908;ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449|ENST00000532089	T;T|.	0.33438|.	1.41;1.47|.	5.5|5.5	-1.09|-1.09	0.09904|0.09904	.|.	1.172300|.	0.06338|.	N|.	0.707409|.	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D;D;D|.	0.54964|.	0.969;0.969;0.969|.	P;P;P|.	0.49752|.	0.518;0.518;0.621|.	T|T	0.30416|0.30416	-0.9979|-0.9979	10|5	0.59425|.	D|.	0.04|.	-0.1916|-0.1916	6.328|6.328	0.21255|0.21255	0.3636:0.1411:0.4953:0.0|0.3636:0.1411:0.4953:0.0	.|.	68;131;121|.	E9PKM2;Q8N6T0;E9PKZ8|.	.;CK080_HUMAN;.|.	C|F	68;237;286;132;68;121;121;131|88	ENSP00000432039:G237C;ENSP00000354227:G286C|.	ENSP00000317408:G132C|.	G|L	+|+	1|3	0|2	C11orf80|C11orf80	66328055|66328055	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.475000|0.475000	0.33008|0.33008	0.802000|0.802000	0.27069|0.27069	-0.081000|-0.081000	0.12662|0.12662	-0.136000|-0.136000	0.14681|0.14681	GGT|TTG		PASS	0.368	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		6	171	6	171	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68840410	68840410	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:68840410C>T	ENST00000294309.3	+	13	1272	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	TPCN2_ENST00000542467.1_Missense_Mutation_p.L391F|TPCN2_ENST00000442692.2_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	391					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.L391F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGTGTTCTGCTCTCAGCTGA	0.607																																						uc001oos.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)CTC>TTC		two pore segment channel 2							105.0	101.0	102.0					11																	68840410		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68840410C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1171C>T	11.37:g.68840410C>T	ENSP00000294309:p.Leu391Phe					TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.L306F|TPCN2_uc010rqg.1_Missense_Mutation_p.L391F|TPCN2_uc001oot.2_RNA	p.L391F	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	1287	+			391			Cytoplasmic (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.1171C>T	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931003	0.52866	.	.	ENSG00000162341	ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.97430	-4.35;-4.38	5.24	0.564	0.17302	.	0.662702	0.14005	N	0.347878	D	0.96759	0.8942	L	0.54323	1.7	0.19300	N	0.999979	D;P;D	0.65815	0.982;0.563;0.995	P;B;P	0.56163	0.626;0.214;0.793	D	0.92042	0.5641	10	0.66056	D	0.02	-6.9686	13.1205	0.59323	0.553:0.447:0.0:0.0	.	391;391;306	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	F	391;306;391	ENSP00000294309:L391F;ENSP00000445551:L391F	ENSP00000294309:L391F	L	+	1	0	TPCN2	68596986	0.009000	0.17119	0.008000	0.14137	0.003000	0.03518	0.067000	0.14510	0.535000	0.28714	0.561000	0.74099	CTC		PASS	0.607	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		9	27	9	27	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74413877	74413877	+	Nonsense_Mutation	SNP	G	G	T	rs367920526		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:74413877G>T	ENST00000376332.3	-	9	1578	c.1082C>A	c.(1081-1083)tCg>tAg	p.S361*	CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.S361*|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	361					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.S361*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CACCAAGTCCGAGGCCTCGTG	0.632											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ovi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1081-1083)TCG>TAG		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;							115.0	111.0	112.0					11																	74413877		2200	4293	6493	SO:0001587	stop_gained	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74413877G>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1082C>A	11.37:g.74413877G>T	ENSP00000365510:p.Ser361*		OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	CHRDL2_uc001ovg.2_Nonsense_Mutation_p.S245*|CHRDL2_uc001ovh.2_Nonsense_Mutation_p.S361*|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Nonsense_Mutation_p.S296*	p.S361*			Q6WN34	CRDL2_HUMAN			9	1335	-	Hepatocellular(1;0.098)		361					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Nonsense_Mutation	SNP	ENST00000376332.3	37	c.1082C>A		.	.	.	.	.	.	.	.	.	.	G	26.1	4.708639	0.89018	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	.	.	.	5.09	5.09	0.68999	.	0.225716	0.39759	N	0.001278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4597	14.339	0.66611	0.0:0.0:1.0:0.0	.	.	.	.	X	361;361;247;245;296	.	ENSP00000263671:S361X	S	-	2	0	CHRDL2	74091525	0.882000	0.30256	0.997000	0.53966	0.070000	0.16714	5.985000	0.70556	2.517000	0.84864	0.561000	0.74099	TCG		PASS	0.632	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			4	60	4	60	---	---	---	---
USP35	57558	broad.mit.edu	37	11	77921353	77921353	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:77921353A>T	ENST00000529308.1	+	10	2713	c.2452A>T	c.(2452-2454)Atg>Ttg	p.M818L	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.M549L|USP35_ENST00000441408.2_Missense_Mutation_p.M404L|USP35_ENST00000530267.1_Missense_Mutation_p.M386L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	818	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.M574L(1)|p.M818L(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTGCGCACCATGCGGCGCCG	0.647																																						uc009yva.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(2452-2454)ATG>TTG		ubiquitin specific protease 35							90.0	99.0	96.0					11																	77921353		2155	4235	6390	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921353A>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2452A>T	11.37:g.77921353A>T	ENSP00000431876:p.Met818Leu					USP35_uc001oze.2_Missense_Mutation_p.M574L|USP35_uc001ozc.2_Missense_Mutation_p.M386L|USP35_uc010rsp.1_Missense_Mutation_p.M250L|USP35_uc001ozd.2_Missense_Mutation_p.M429L|USP35_uc001ozf.2_Missense_Mutation_p.M549L	p.M818L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2698	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		818						Missense_Mutation	SNP	ENST00000529308.1	37	c.2452A>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863290	0.71949	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.42	3.27	0.37495	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.073708	0.56097	N	0.000040	T	0.38108	0.1028	L	0.39692	1.235	0.36420	D	0.864271	B;P	0.48294	0.005;0.908	B;P	0.58620	0.005;0.842	T	0.33059	-0.9883	10	0.27785	T	0.31	-35.0841	11.0518	0.47894	0.8439:0.1561:0.0:0.0	.	818;404	Q9P2H5;E7EWV7	UBP35_HUMAN;.	L	386;818;404;549	ENSP00000435468:M386L;ENSP00000431876:M818L;ENSP00000400825:M404L;ENSP00000434942:M549L	ENSP00000400825:M404L	M	+	1	0	USP35	77599001	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.032000	0.64140	0.715000	0.32103	0.402000	0.26972	ATG		PASS	0.647	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		12	41	12	41	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92531931	92531931	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:92531931C>G	ENST00000298047.6	+	9	5769	c.5752C>G	c.(5752-5754)Ctg>Gtg	p.L1918V	FAT3_ENST00000525166.1_Missense_Mutation_p.L1768V|FAT3_ENST00000409404.2_Missense_Mutation_p.L1918V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1918	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1918V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCCCCTGAACTGACATACAG	0.423										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(5752-5754)CTG>GTG		FAT tumor suppressor homolog 3							79.0	70.0	73.0					11																	92531931		1925	4139	6064	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531931C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5752C>G	11.37:g.92531931C>G	ENSP00000298047:p.Leu1918Val	TCGA Ovarian(4;0.039)					p.L1918V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5769	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1918			Cadherin 17.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5752C>G		.	.	.	.	.	.	.	.	.	.	C	10.91	1.485425	0.26686	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01172	5.23;5.23;5.23	6.02	5.11	0.69529	.	.	.	.	.	T	0.01592	0.0051	L	0.37850	1.14	0.80722	D	1	P	0.45827	0.867	P	0.48524	0.58	T	0.71314	-0.4630	9	0.14252	T	0.57	.	6.9719	0.24654	0.1419:0.7176:0.0:0.1405	.	1918	Q8TDW7-3	.	V	1918;1918;1768	ENSP00000298047:L1918V;ENSP00000387040:L1918V;ENSP00000432586:L1768V	ENSP00000298047:L1918V	L	+	1	2	FAT3	92171579	1.000000	0.71417	0.991000	0.47740	0.858000	0.48976	3.206000	0.51098	1.562000	0.49601	0.655000	0.94253	CTG		PASS	0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	39	17	39	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533017	92533017	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:92533017G>T	ENST00000298047.6	+	9	6855	c.6838G>T	c.(6838-6840)Gta>Tta	p.V2280L	FAT3_ENST00000525166.1_Missense_Mutation_p.V2130L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2280L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2280	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2280L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTAATGATGTAAATGACAA	0.418										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6838-6840)GTA>TTA		FAT tumor suppressor homolog 3							99.0	88.0	91.0					11																	92533017		1913	4132	6045	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533017G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6838G>T	11.37:g.92533017G>T	ENSP00000298047:p.Val2280Leu	TCGA Ovarian(4;0.039)					p.V2280L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6855	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2280			Cadherin 20.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6838G>T		.	.	.	.	.	.	.	.	.	.	G	12.17	1.857960	0.32791	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.70164	-0.46;-0.46;-0.46	5.94	4.06	0.47325	.	.	.	.	.	T	0.67859	0.2938	M	0.82630	2.6	0.80722	D	1	B	0.28801	0.223	B	0.27887	0.084	T	0.67818	-0.5572	9	0.66056	D	0.02	.	11.0771	0.48038	0.1986:0.0:0.8014:0.0	.	2280	Q8TDW7-3	.	L	2280;2280;2130	ENSP00000298047:V2280L;ENSP00000387040:V2280L;ENSP00000432586:V2130L	ENSP00000298047:V2280L	V	+	1	0	FAT3	92172665	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	2.233000	0.43027	0.833000	0.34828	0.650000	0.86243	GTA		PASS	0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	35	11	35	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121460075	121460075	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:121460075G>C	ENST00000260197.7	+	29	4183	c.4054G>C	c.(4054-4056)Gat>Cat	p.D1352H	SORL1_ENST00000532694.1_Missense_Mutation_p.D198H|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000534286.1_Missense_Mutation_p.D262H|SORL1_ENST00000525532.1_Missense_Mutation_p.D296H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1352	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.D1352H(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)		TGATTGCGGCGATTATTCTGA	0.483																																						uc001pxx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4054-4056)GAT>CAT		sortilin-related receptor containing LDLR class							389.0	301.0	331.0					11																	121460075		2203	4299	6502	SO:0001583	missense	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.chr11:121460075G>C	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.4054G>C	11.37:g.121460075G>C	ENSP00000260197:p.Asp1352His					SORL1_uc010rzp.1_Missense_Mutation_p.D198H|SORL1_uc010rzq.1_5'Flank	p.D1352H	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	29	4134	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1352			Extracellular (Potential).|LDL-receptor class A 7.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4054G>C	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622614	0.87460	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.89	5.89	0.94794	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98786	1.0734	10	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	1352	Q92673	SORL_HUMAN	H	1352;296;198;262	ENSP00000260197:D1352H;ENSP00000434634:D296H;ENSP00000432131:D198H;ENSP00000436447:D262H	ENSP00000260197:D1352H	D	+	1	0	SORL1	120965285	1.000000	0.71417	0.174000	0.22961	0.727000	0.41649	9.869000	0.99810	2.783000	0.95769	0.655000	0.94253	GAT		PASS	0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		31	92	31	92	---	---	---	---
GRAMD1B	57476	broad.mit.edu	37	11	123476185	123476185	+	Splice_Site	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:123476185C>A	ENST00000529750.1	+	9	1220	c.893C>A	c.(892-894)tCg>tAg	p.S298*	GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000456860.2_Splice_Site_p.S305*|GRAMD1B_ENST00000322282.7_Splice_Site_p.S298*	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	298						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S298*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCCCCGTCTCGGTATGGGCA	0.562																																						uc001pyx.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(892-894)TCG>TAG		GRAM domain containing 1B							132.0	138.0	136.0					11																	123476185		2071	4191	6262	SO:0001630	splice_region_variant	57476					integral to membrane		g.chr11:123476185C>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.894+1C>A	11.37:g.123476185C>A						GRAMD1B_uc001pyw.2_Nonsense_Mutation_p.S305*|GRAMD1B_uc010rzw.1_Nonsense_Mutation_p.S258*|GRAMD1B_uc010rzx.1_Nonsense_Mutation_p.S258*|GRAMD1B_uc009zbe.1_Nonsense_Mutation_p.S294*|GRAMD1B_uc001pyy.2_5'Flank	p.S298*	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	9	1222	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	298					Q6UW85|Q9ULL9	Nonsense_Mutation	SNP	ENST00000529750.1	37	c.893C>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	39	7.304877	0.98200	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	.	.	.	5.03	3.15	0.36227	.	0.311936	0.31577	N	0.007420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3339	0.38038	0.0:0.8338:0.0:0.1662	.	.	.	.	X	305;305;298;298;258;294	.	ENSP00000325628:S298X	S	+	2	0	GRAMD1B	122981395	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	4.944000	0.63561	0.528000	0.28580	0.305000	0.20034	TCG		PASS	0.562	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	Nonsense_Mutation	4	81	4	81	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128839232	128839232	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:128839232G>A	ENST00000310343.9	-	22	5833	c.5834C>T	c.(5833-5835)tCc>tTc	p.S1945F	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1596F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1596F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1945	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.S1945F(1)|p.S1596F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CATCTCTTTGGAGAGCCTTAC	0.507																																						uc009zcp.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(5833-5835)TCC>TTC		Rho GTPase-activating protein isoform 1							79.0	81.0	80.0					11																	128839232		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839232G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5834C>T	11.37:g.128839232G>A	ENSP00000310561:p.Ser1945Phe					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.S904F|ARHGAP32_uc001qez.2_Missense_Mutation_p.S1596F	p.S1945F	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5834	-			1945			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5834C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221985	0.39300	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.19394	2.15;2.15;2.15	6.07	4.19	0.49359	.	0.654653	0.15649	N	0.251516	T	0.22044	0.0531	L	0.51422	1.61	0.22819	N	0.998696	B	0.02656	0.0	B	0.04013	0.001	T	0.17107	-1.0380	10	0.87932	D	0	.	11.911	0.52739	0.0654:0.1232:0.8114:0.0	.	1945	A7KAX9	RHG32_HUMAN	F	1945;1596;1596	ENSP00000310561:S1945F;ENSP00000376425:S1596F;ENSP00000432862:S1596F	ENSP00000310561:S1945F	S	-	2	0	ARHGAP32	128344442	0.751000	0.28327	0.848000	0.33437	0.944000	0.59088	2.247000	0.43151	0.872000	0.35775	0.655000	0.94253	TCC		PASS	0.507	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		15	41	15	41	---	---	---	---
VPS26B	112936	broad.mit.edu	37	11	134114844	134114844	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr11:134114844C>T	ENST00000281187.5	+	5	1212	c.734C>T	c.(733-735)cCg>cTg	p.P245L	VPS26B_ENST00000525095.2_Missense_Mutation_p.P245L	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	245					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.P245L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GAGTCCATCCCGATCCGGCTC	0.582											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(171;1263 1952 15904 45703 47982)	uc001qhe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CCG>CTG		vacuolar protein sorting 26 homolog B							61.0	57.0	58.0					11																	134114844		2201	4297	6498	SO:0001583	missense	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134114844C>T		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.734C>T	11.37:g.134114844C>T	ENSP00000281187:p.Pro245Leu		OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1608		p.P245L	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	5	1190	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	245					Q96A55	Missense_Mutation	SNP	ENST00000281187.5	37	c.734C>T	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396168	0.96009	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92272	0.5826	9	0.87932	D	0	-31.6711	19.6787	0.95950	0.0:1.0:0.0:0.0	.	245	Q4G0F5	VP26B_HUMAN	L	245;244	.	ENSP00000281187:P245L	P	+	2	0	VPS26B	133620054	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	7.651000	0.83577	2.884000	0.98904	0.655000	0.94253	CCG		PASS	0.582	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		4	28	4	28	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6058963	6058963	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:6058963G>T	ENST00000261405.5	-	51	8496	c.8242C>A	c.(8242-8244)Cac>Aac	p.H2748N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2748	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.H2748N(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGCAGTAGTGGATATCCACC	0.522																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(8242-8244)CAC>AAC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						166.0	144.0	151.0					12																	6058963		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6058963G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8242C>A	12.37:g.6058963G>T	ENSP00000261405:p.His2748Asn					VWF_uc010set.1_3'UTR	p.H2748N	NM_000552	NP_000543	P04275	VWF_HUMAN			51	8492	-			2748			CTCK.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.8242C>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882136	0.33255	.	.	ENSG00000110799	ENST00000261405	T	0.34472	1.36	5.67	4.78	0.61160	Cystine knot, C-terminal (2);	0.235796	0.22007	N	0.065932	T	0.39886	0.1095	M	0.85099	2.735	0.80722	D	1	P	0.49185	0.92	B	0.35114	0.196	T	0.52697	-0.8541	10	0.59425	D	0.04	.	12.5838	0.56406	0.0807:0.0:0.9193:0.0	.	2748	P04275	VWF_HUMAN	N	2748	ENSP00000261405:H2748N	ENSP00000261405:H2748N	H	-	1	0	VWF	5929224	0.973000	0.33851	0.998000	0.56505	0.468000	0.32798	1.401000	0.34589	1.404000	0.46819	-0.150000	0.13652	CAC		PASS	0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		5	67	5	67	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26780971	26780971	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:26780971G>T	ENST00000381340.3	-	23	3475	c.3059C>A	c.(3058-3060)cCa>cAa	p.P1020Q	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1020					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.P1020Q(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GATACCTGATGGTAGTAAAGT	0.318																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(3058-3060)CCA>CAA		inositol 1,4,5-triphosphate receptor, type 2							219.0	211.0	213.0					12																	26780971		1847	4089	5936	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26780971G>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3059C>A	12.37:g.26780971G>T	ENSP00000370744:p.Pro1020Gln						p.P1020Q	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			23	3476	-	Colorectal(261;0.0847)		1020			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3059C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737356	0.30774	.	.	ENSG00000123104	ENST00000381340	T	0.39997	1.05	4.55	4.55	0.56014	.	0.335182	0.31472	N	0.007587	T	0.35682	0.0940	L	0.52126	1.63	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.09590	T	0.72	.	15.657	0.77144	0.0:0.0:1.0:0.0	.	1020	Q14571	ITPR2_HUMAN	Q	1020	ENSP00000370744:P1020Q	ENSP00000370744:P1020Q	P	-	2	0	ITPR2	26672238	0.979000	0.34478	0.695000	0.30226	0.133000	0.20885	2.695000	0.47043	2.529000	0.85273	0.650000	0.86243	CCA		PASS	0.318	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		13	204	13	204	---	---	---	---
BICD1	636	broad.mit.edu	37	12	32490544	32490544	+	Silent	SNP	C	C	G	rs200118178		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:32490544C>G	ENST00000281474.5	+	7	2467	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L	BICD1_ENST00000548411.1_Silent_p.L788L	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	788	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.L788L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCAAAAACTCGCCCTGACCC	0.498																																						uc001rku.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2362-2364)CTC>CTG		bicaudal D homolog 1 isoform 1							92.0	83.0	86.0					12																	32490544		2203	4300	6503	SO:0001819	synonymous_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32490544C>G	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2364C>G	12.37:g.32490544C>G						BICD1_uc001rkv.2_Silent_p.L788L|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Silent_p.L70L	p.L788L	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		7	2445	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		788			Potential.|Interacts with RAB6A.		A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.2364C>G	CCDS8726.1																																																																																				PASS	0.498	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		12	38	12	38	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40422151	40422151	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:40422151C>T	ENST00000280871.4	-	3	927	c.877G>A	c.(877-879)Gat>Aat	p.D293N	SLC2A13_ENST00000380858.1_Missense_Mutation_p.D293N	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	293					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.D274N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TTGATGCTATCATATTCCTCA	0.383										HNSCC(50;0.14)																												uc010skm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(877-879)GAT>AAT		solute carrier family 2 (facilitated glucose							105.0	107.0	107.0					12																	40422151		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40422151C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.877G>A	12.37:g.40422151C>T	ENSP00000280871:p.Asp293Asn	HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Missense_Mutation_p.D293N	p.D293N	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			3	928	-		Lung NSC(34;0.105)|all_lung(34;0.123)	293			Cytoplasmic (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.877G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032664	0.75504	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.74421	-0.84;-0.84	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.085530	0.85682	D	0.000000	T	0.62684	0.2448	N	0.13098	0.295	0.80722	D	1	B;B	0.29766	0.06;0.256	B;B	0.33960	0.065;0.173	T	0.57825	-0.7744	10	0.17369	T	0.5	-27.1146	19.8499	0.96734	0.0:1.0:0.0:0.0	.	293;293	Q96QE2;E9PE47	MYCT_HUMAN;.	N	293	ENSP00000280871:D293N;ENSP00000370239:D293N	ENSP00000280871:D293N	D	-	1	0	SLC2A13	38708418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.540000	0.67205	2.779000	0.95612	0.591000	0.81541	GAT		PASS	0.383	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			30	83	30	83	---	---	---	---
TMEM106C	79022	broad.mit.edu	37	12	48360006	48360006	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:48360006G>T	ENST00000429772.2	+	5	659	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TMEM106C_ENST00000449758.2_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.E111D|TMEM106C_ENST00000256686.6_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.E182D|TMEM106C_ENST00000550552.1_Intron|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	182						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E182D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CTCGGAGTGAGCAACTGGTAT	0.493																																						uc001rqp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)GAG>GAT		transmembrane protein 106C isoform a							101.0	81.0	88.0					12																	48360006		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48360006G>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.546G>T	12.37:g.48360006G>T	ENSP00000400471:p.Glu182Asp					TMEM106C_uc001rqo.2_Intron|TMEM106C_uc001rqr.2_Missense_Mutation_p.E182D|TMEM106C_uc001rqq.2_Intron	p.E182D	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	5	661	+		Acute lymphoblastic leukemia(13;0.11)	182					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.546G>T	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522169	0.27211	.	.	ENSG00000134291	ENST00000552561;ENST00000546749;ENST00000552546;ENST00000429772	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.17	2.31	0.28768	.	0.259393	0.37577	N	0.002034	T	0.19604	0.0471	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.05649	-1.0872	9	.	.	.	-0.0155	8.2557	0.31756	0.0874:0.2965:0.6161:0.0	.	182	Q9BVX2	T106C_HUMAN	D	182;46;111;182	ENSP00000446657:E182D;ENSP00000446622:E46D;ENSP00000448268:E111D;ENSP00000400471:E182D	.	E	+	3	2	TMEM106C	46646273	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.081000	0.30791	0.699000	0.31761	0.655000	0.94253	GAG		PASS	0.493	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		8	33	8	33	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49420064	49420064	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:49420064G>T	ENST00000301067.7	-	48	15684	c.15685C>A	c.(15685-15687)Cgc>Agc	p.R5229S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5229	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R5229S(1)|p.R4959S(1)									ATAGAACAGCGATAGCAGCAG	0.582																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15685-15687)CGC>AGC		myeloid/lymphoid or mixed-lineage leukemia 2							62.0	65.0	64.0					12																	49420064		2015	4177	6192	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420064G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15685C>A	12.37:g.49420064G>T	ENSP00000301067:p.Arg5229Ser	HNSCC(34;0.089)					p.R5229S	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15685	-			5229			FYR N-terminal.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15685C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963333	0.53507	.	.	ENSG00000167548	ENST00000301067	T	0.77750	-1.12	5.11	5.11	0.69529	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.37261	N	0.002172	D	0.83820	0.5337	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.85544	0.1217	10	0.87932	D	0	.	17.6991	0.88289	0.0:0.0:1.0:0.0	.	5229	O14686	MLL2_HUMAN	S	5229	ENSP00000301067:R5229S	ENSP00000301067:R5229S	R	-	1	0	MLL2	47706331	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.011000	0.88624	2.560000	0.86352	0.650000	0.86243	CGC		PASS	0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	53	4	53	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49446494	49446494	+	Splice_Site	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:49446494T>A	ENST00000301067.7	-	9	1112		c.e9-2			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(2)									GGTGAAAATCTGCAGAGGGTA	0.597																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Unknown(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e9-1		myeloid/lymphoid or mixed-lineage leukemia 2							31.0	31.0	31.0					12																	49446494		1997	4158	6155	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49446494T>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1113-2A>T	12.37:g.49446494T>A		HNSCC(34;0.089)					p.R371_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			9	1113	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.1113_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578109	0.65878	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2486	0.60039	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47732761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.740000	0.47418	2.009000	0.58944	0.402000	0.26972	.		PASS	0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	6	14	6	14	---	---	---	---
LMBR1L	55716	broad.mit.edu	37	12	49491879	49491879	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:49491879C>A	ENST00000267102.8	-	16	1592	c.1250G>T	c.(1249-1251)cGc>cTc	p.R417L	LMBR1L_ENST00000395141.4_Missense_Mutation_p.R412L|LMBR1L_ENST00000547382.1_Missense_Mutation_p.R397L	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	417					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R417L(1)|p.R412L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGGTCAAAGCGAGTGAGCCC	0.557											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rth.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1249-1251)CGC>CTC		lipocalin-interacting membrane receptor							124.0	118.0	120.0					12																	49491879		2203	4300	6503	SO:0001583	missense	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49491879C>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1250G>T	12.37:g.49491879C>A	ENSP00000267102:p.Arg417Leu		OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	LMBR1L_uc001rtg.3_Missense_Mutation_p.R412L|LMBR1L_uc001rti.3_Missense_Mutation_p.R397L	p.R417L	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN			16	1592	-			417			Extracellular (Potential).		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	c.1250G>T	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762770	0.69763	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.32023	1.47;1.47;1.47	5.54	4.65	0.58169	LMBR1-like membrane protein (1);	0.162032	0.52532	D	0.000071	T	0.37919	0.1021	M	0.66939	2.045	0.40921	D	0.984319	P;B;B	0.46064	0.872;0.417;0.212	B;P;B	0.45558	0.417;0.485;0.156	T	0.30119	-0.9989	10	0.38643	T	0.18	.	13.7892	0.63128	0.0:0.9242:0.0:0.0758	.	397;417;412	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	L	417;397;412	ENSP00000267102:R417L;ENSP00000447329:R397L;ENSP00000378573:R412L	ENSP00000267102:R417L	R	-	2	0	LMBR1L	47778146	0.624000	0.27102	1.000000	0.80357	0.998000	0.95712	2.156000	0.42310	1.478000	0.48253	0.563000	0.77884	CGC		PASS	0.557	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		52	132	52	132	---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53091605	53091605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:53091605C>A	ENST00000341809.3	-	2	647	c.619G>T	c.(619-621)Gga>Tga	p.G207*	KRT77_ENST00000537195.1_5'UTR|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	207	Linker 1.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G207*(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGTTGGTTCCAGTTGAGGTG	0.567																																						uc001saw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(619-621)GGA>TGA		keratin 77							201.0	190.0	193.0					12																	53091605		2203	4300	6503	SO:0001587	stop_gained	374454					keratin filament	structural molecule activity	g.chr12:53091605C>A	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.619G>T	12.37:g.53091605C>A	ENSP00000342710:p.Gly207*					KRT77_uc009zmi.2_5'UTR	p.G207*	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN			2	648	-			207			Linker 1.|Rod.		Q7RTS8	Nonsense_Mutation	SNP	ENST00000341809.3	37	c.619G>T	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276178	0.59649	.	.	ENSG00000189182	ENST00000341809	.	.	.	4.4	0.0492	0.14288	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	9.5255	0.39162	0.0:0.3898:0.3518:0.2583	.	.	.	.	X	207	.	ENSP00000342710:G207X	G	-	1	0	KRT77	51377872	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.718000	0.04980	-0.067000	0.12976	-0.270000	0.10280	GGA		PASS	0.567	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		7	169	7	169	---	---	---	---
SOAT2	8435	broad.mit.edu	37	12	53516877	53516877	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:53516877C>T	ENST00000301466.3	+	13	1309	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	417					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.R417W(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CCTTGGTGCCCGGGCCCGAGG	0.627																																						uc001sbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1249-1251)CGG>TGG		acyl-CoA:cholesterol acyltransferase 2							105.0	87.0	93.0					12																	53516877		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53516877C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1249C>T	12.37:g.53516877C>T	ENSP00000301466:p.Arg417Trp					SOAT2_uc009zms.2_RNA	p.R417W	NM_003578	NP_003569	O75908	SOAT2_HUMAN			13	1337	+			417					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.1249C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638974	0.47153	.	.	ENSG00000167780	ENST00000301466	T	0.74209	-0.82	4.83	2.83	0.33086	.	0.679559	0.14241	N	0.332083	T	0.81336	0.4801	M	0.69823	2.125	0.09310	N	1	D	0.71674	0.998	P	0.60345	0.873	T	0.69562	-0.5112	10	0.51188	T	0.08	-10.6392	10.122	0.42627	0.4519:0.5481:0.0:0.0	.	417	O75908	SOAT2_HUMAN	W	417	ENSP00000301466:R417W	ENSP00000301466:R417W	R	+	1	2	SOAT2	51803144	0.570000	0.26651	0.950000	0.38849	0.726000	0.41606	0.878000	0.28126	1.377000	0.46286	0.561000	0.74099	CGG		PASS	0.627	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			7	9	7	9	---	---	---	---
CSAD	51380	broad.mit.edu	37	12	53565707	53565707	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:53565707G>A	ENST00000444623.1	-	7	677	c.410C>T	c.(409-411)gCc>gTc	p.A137V	CSAD_ENST00000267085.4_Missense_Mutation_p.A164V|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000453446.2_Missense_Mutation_p.A137V|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_Missense_Mutation_p.A137V|CSAD_ENST00000491654.1_5'UTR	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	137					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.A164V(1)|p.A137V(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GCCCACCAGGGCCCGCAGTTT	0.557																																					Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(409-411)GCC>GTC		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						78.0	70.0	73.0					12																	53565707		2203	4300	6503	SO:0001583	missense	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53565707G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.410C>T	12.37:g.53565707G>A	ENSP00000415485:p.Ala137Val					CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A164V|CSAD_uc001sbz.2_Missense_Mutation_p.A137V|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.A137V	p.A137V	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			6	536	-			137					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.410C>T	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119572	0.56505	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000454442;ENST00000542115;ENST00000437073;ENST00000424990	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.96	4.05	0.47172	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.402824	0.27891	N	0.017426	T	0.37785	0.1016	M	0.68317	2.08	0.33862	D	0.633892	P;P;B	0.44690	0.841;0.506;0.31	B;B;B	0.35312	0.2;0.082;0.081	T	0.59445	-0.7453	10	0.59425	D	0.04	-14.6538	11.4828	0.50335	0.0:0.0:0.5546:0.4454	.	137;164;137	B4DL84;Q9Y600-3;Q9Y600	.;.;CSAD_HUMAN	V	226;164;137;137;137;137;31;137;137;137	ENSP00000267085:A164V;ENSP00000415485:A137V;ENSP00000410648:A137V;ENSP00000439419:A137V;ENSP00000415314:A137V;ENSP00000401078:A137V	ENSP00000267085:A164V	A	-	2	0	CSAD	51851974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.750000	0.47500	1.214000	0.43395	0.561000	0.74099	GCC		PASS	0.557	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		10	43	10	43	---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54792386	54792386	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:54792386G>T	ENST00000293379.4	-	28	3199	c.2938C>A	c.(2938-2940)Cgt>Agt	p.R980S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	980					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R980S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTCACCTGACGCTCTTTTTGG	0.582																																						uc001sga.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2938-2940)CGT>AGT		integrin alpha 5 precursor							76.0	66.0	70.0					12																	54792386		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54792386G>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2938C>A	12.37:g.54792386G>T	ENSP00000293379:p.Arg980Ser						p.R980S	NM_002205	NP_002196	P08648	ITA5_HUMAN			28	3006	-			980			Extracellular (Potential).		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2938C>A	CCDS8880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.191|5.191	0.220707|0.220707	0.09863|0.09863	.|.	.|.	ENSG00000161638|ENSG00000161638	ENST00000293379|ENST00000547197	T|.	0.22945|.	1.93|.	5.27|5.27	4.38|4.38	0.52667|0.52667	.|.	0.410669|.	0.25798|.	N|.	0.028221|.	T|T	0.31199|0.31199	0.0789|0.0789	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B|.	0.17038|.	0.02|.	B|.	0.17722|.	0.019|.	T|T	0.19484|0.19484	-1.0304|-1.0304	10|5	0.22706|.	T|.	0.39|.	.|.	12.2137|12.2137	0.54394|0.54394	0.0838:0.0:0.9162:0.0|0.0838:0.0:0.9162:0.0	.|.	980|.	P08648|.	ITA5_HUMAN|.	S|R	980|49	ENSP00000293379:R980S|.	ENSP00000293379:R980S|.	R|S	-|-	1|3	0|2	ITGA5|ITGA5	53078653|53078653	0.052000|0.052000	0.20516|0.20516	0.101000|0.101000	0.21167|0.21167	0.441000|0.441000	0.31987|0.31987	1.385000|1.385000	0.34408|0.34408	1.378000|1.378000	0.46305|0.46305	-0.137000|-0.137000	0.14449|0.14449	CGT|AGC		PASS	0.582	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			9	20	9	20	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66725230	66725230	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:66725230C>T	ENST00000247815.4	+	12	3026	c.2967C>T	c.(2965-2967)gtC>gtT	p.V989V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	989					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.V989V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TCCCTGTAGTCACAGACCACG	0.562																																						uc001sti.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(2965-2967)GTC>GTT		helicase (DNA) B							88.0	66.0	74.0					12																	66725230		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725230C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2967C>T	12.37:g.66725230C>T						HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.V989V	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	2995	+			989					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.2967C>T	CCDS8976.1																																																																																				PASS	0.562	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			7	31	7	31	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70928645	70928645	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:70928645C>T	ENST00000261266.5	-	28	5547	c.5518G>A	c.(5518-5520)Gag>Aag	p.E1840K	PTPRB_ENST00000334414.6_Missense_Mutation_p.E2058K|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1750K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1970K|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1750K|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1750K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1840	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1840K(2)|p.E2058K(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGGTCCACTCAGGCAGGACG	0.507																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(5518-5520)GAG>AAG		protein tyrosine phosphatase, receptor type, B							68.0	67.0	67.0					12																	70928645		1951	4161	6112	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70928645C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5518G>A	12.37:g.70928645C>T	ENSP00000261266:p.Glu1840Lys					uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1750K|PTPRB_uc010stp.1_Missense_Mutation_p.E1750K|PTPRB_uc001swc.3_Missense_Mutation_p.E2058K|PTPRB_uc001swa.3_Missense_Mutation_p.E1970K	p.E1840K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		28	5548	-	Renal(347;0.236)		1840			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5518G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504618	0.96371	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	5.5	5.5	0.81552	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	T	0.01839	-1.1263	10	0.72032	D	0.01	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	1750;1750;2058;1840;1970	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	K	2058;1750;1970;1750;1750;1840	ENSP00000334928:E2058K;ENSP00000393028:E1750K;ENSP00000448058:E1970K;ENSP00000438927:E1750K;ENSP00000447302:E1750K;ENSP00000261266:E1840K	ENSP00000261266:E1840K	E	-	1	0	PTPRB	69214912	1.000000	0.71417	0.966000	0.40874	0.901000	0.52897	7.445000	0.80570	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.507	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			19	48	19	48	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400703	78400703	+	Nonsense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:78400703T>A	ENST00000397909.2	+	8	1558	c.1385T>A	c.(1384-1386)tTg>tAg	p.L462*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.L462*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.L462*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.L462*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	462						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L462*(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						AAAAAGTCTTTGCTACAGCCA	0.418										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1384-1386)TTG>TAG		neuron navigator 3							63.0	61.0	62.0					12																	78400703		1824	4074	5898	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400703T>A	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.1385T>A	12.37:g.78400703T>A	ENSP00000381007:p.Leu462*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.L462*	p.L462*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1558	+			462					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.1385T>A		.	.	.	.	.	.	.	.	.	.	T	39	7.627551	0.98399	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.	.	.	5.73	4.56	0.56223	.	0.000000	0.33144	U	0.005222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.6535	12.8383	0.57786	0.0:0.0:0.1364:0.8636	.	.	.	.	X	462	.	ENSP00000228327:L462X	L	+	2	0	NAV3	76924834	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.419000	0.44671	0.969000	0.38237	0.528000	0.53228	TTG		PASS	0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		29	73	29	73	---	---	---	---
IKBIP	121457	broad.mit.edu	37	12	99007382	99007382	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:99007382T>C	ENST00000342502.2	-	3	1445	c.1034A>G	c.(1033-1035)cAc>cGc	p.H345R	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.H239R	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	345					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.H345R(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATCTGAAATGTGTGCTATTTC	0.274																																						uc001tfv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1033-1035)CAC>CGC		IKK interacting protein isoform 2							47.0	52.0	50.0					12																	99007382		2200	4292	6492	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007382T>C	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.1034A>G	12.37:g.99007382T>C	ENSP00000343471:p.His345Arg					IKBIP_uc001tfw.2_3'UTR	p.H345R	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			3	1144	-			345					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.1034A>G	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508231	0.27036	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.42900	0.96;0.96	5.28	5.28	0.74379	.	.	.	.	.	T	0.33030	0.0849	L	0.34521	1.04	0.29673	N	0.842313	B	0.32829	0.386	B	0.31101	0.124	T	0.20273	-1.0280	9	0.25751	T	0.34	.	14.381	0.66911	0.0:0.0:0.0:1.0	.	345	Q70UQ0	IKIP_HUMAN	R	345;239	ENSP00000343471:H345R;ENSP00000398023:H239R	ENSP00000343471:H345R	H	-	2	0	IKBIP	97531513	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.115000	0.57865	1.986000	0.57962	0.467000	0.42956	CAC		PASS	0.274	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		17	50	17	50	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102505967	102505967	+	Missense_Mutation	SNP	C	C	A	rs371630269		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:102505967C>A	ENST00000552283.1	-	3	339	c.200G>T	c.(199-201)cGa>cTa	p.R67L	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.R67L			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	67					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.R67L(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GTGAAATGTTCGAAGTGTTTT	0.368																																						uc001tjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)CGA>CTA		nucleoporin 37kDa							181.0	154.0	163.0					12																	102505967		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102505967C>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.200G>T	12.37:g.102505967C>A	ENSP00000448054:p.Arg67Leu					NUP37_uc009zub.1_Missense_Mutation_p.R67L	p.R67L	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			2	265	-			67					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.200G>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347250	0.61183	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.29397	1.57;1.57;2.86	5.43	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.277784	0.35772	N	0.002997	T	0.30885	0.0779	M	0.71581	2.175	0.43965	D	0.996648	B;B	0.32203	0.36;0.36	B;B	0.31390	0.129;0.06	T	0.05550	-1.0878	10	0.34782	T	0.22	-2.6224	9.7045	0.40207	0.0:0.786:0.0:0.214	.	67;67	B4DKV8;Q8NFH4	.;NUP37_HUMAN	L	67	ENSP00000448054:R67L;ENSP00000251074:R67L;ENSP00000448086:R67L	ENSP00000251074:R67L	R	-	2	0	NUP37	101030097	1.000000	0.71417	0.871000	0.34182	0.884000	0.51177	2.501000	0.45389	0.775000	0.33450	0.585000	0.79938	CGA		PASS	0.368	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		4	66	4	66	---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109042780	109042780	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:109042780C>A	ENST00000261401.3	-	9	1190	c.1018G>T	c.(1018-1020)Gag>Tag	p.E340*	CORO1C_ENST00000421578.2_Nonsense_Mutation_p.E235*|CORO1C_ENST00000541050.1_Nonsense_Mutation_p.E340*|CORO1C_ENST00000420959.2_Nonsense_Mutation_p.E393*|CORO1C_ENST00000549772.1_Nonsense_Mutation_p.E346*|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	340					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.E340*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CACTTTCTCTCATGAAGTTTG	0.328																																						uc001tnj.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)	3						c.(1018-1020)GAG>TAG		coronin, actin binding protein, 1C isoform 1							71.0	74.0	73.0					12																	109042780		2203	4300	6503	SO:0001587	stop_gained	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109042780C>A	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.1018G>T	12.37:g.109042780C>A	ENSP00000261401:p.Glu340*					CORO1C_uc009zva.2_Nonsense_Mutation_p.E393*|CORO1C_uc010sxf.1_Nonsense_Mutation_p.E303*	p.E340*	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			9	1114	-			340					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Nonsense_Mutation	SNP	ENST00000261401.3	37	c.1018G>T	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	C	37	6.127111	0.97305	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000546705;ENST00000421578;ENST00000549772;ENST00000420959	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.5937	17.409	0.87480	0.0:1.0:0.0:0.0	.	.	.	.	X	340;340;31;235;346;393	.	ENSP00000261401:E340X	E	-	1	0	CORO1C	107566909	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.810000	0.69179	2.649000	0.89929	0.591000	0.81541	GAG		PASS	0.328	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		5	44	5	44	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121434449	121434449	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr12:121434449A>T	ENST00000257555.6	+	6	1439	c.1213A>T	c.(1213-1215)Atg>Ttg	p.M405L	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.M405L|HNF1A_ENST00000544413.1_Missense_Mutation_p.M405L|HNF1A_ENST00000543427.1_Missense_Mutation_p.M288L|HNF1A_ENST00000541395.1_Missense_Mutation_p.M405L|HNF1A_ENST00000402929.1_Missense_Mutation_p.M405L			P20823	HNF1A_HUMAN	HNF1 homeobox A	405					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription regulatory region DNA binding (GO:0044212)	p.M405L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAACCTCATCATGGCCTCACT	0.637									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2																			1	Substitution - Missense(1)		lung(1)	liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116						c.(1213-1215)ATG>TTG		hepatic nuclear factor-1-alpha							110.0	88.0	95.0					12																	121434449		2203	4300	6503	SO:0001583	missense	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121434449A>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1213A>T	12.37:g.121434449A>T	ENSP00000257555:p.Met405Leu					HNF1A_uc001tze.1_Missense_Mutation_p.M405L|HNF1A_uc001tzf.2_Missense_Mutation_p.M405L|HNF1A_uc010szn.1_Missense_Mutation_p.M405L	p.M405L	NM_000545	NP_000536	P20823	HNF1A_HUMAN			6	1236	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		405					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1213A>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729296	0.69074	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	4.81	4.81	0.61882	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	M	0.75615	2.305	0.50313	D	0.999863	D;D;D;P	0.71674	0.985;0.978;0.998;0.935	D;D;D;P	0.85130	0.988;0.993;0.997;0.846	D	0.99410	1.0930	10	0.72032	D	0.01	-24.4295	13.6238	0.62153	1.0:0.0:0.0:0.0	.	405;405;405;405	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	L	405;297;405;405;226;288;405;405;405;405;405	ENSP00000257555:M405L;ENSP00000439721:M288L;ENSP00000443112:M405L;ENSP00000438804:M405L	ENSP00000257555:M405L	M	+	1	0	HNF1A	119918832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.823000	0.53134	0.451000	0.29950	ATG		PASS	0.637	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		5	15	5	15	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21436984	21436984	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:21436984C>A	ENST00000255305.6	-	3	260	c.189G>T	c.(187-189)gtG>gtT	p.V63V	XPO4_ENST00000400602.2_Silent_p.V63V|XPO4_ENST00000490513.1_5'UTR			Q9C0E2	XPO4_HUMAN	exportin 4	63					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V36V(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GGACATAGTCCACTTTACTAG	0.348																																						uc001unq.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(187-189)GTG>GTT		exportin 4							160.0	157.0	158.0					13																	21436984		1831	4076	5907	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21436984C>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.189G>T	13.37:g.21436984C>A						XPO4_uc010tcr.1_5'UTR	p.V63V	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	3	225	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	63					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.189G>T	CCDS41872.1																																																																																				PASS	0.348	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		7	170	7	170	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25670378	25670378	+	Nonsense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:25670378C>G	ENST00000281589.3	+	1	79	c.42C>G	c.(40-42)taC>taG	p.Y14*		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	14	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.Y14*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCTCGCTCTACGTGGGGGACC	0.637																																						uc001upy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(40-42)TAC>TAG		poly(A) binding protein, cytoplasmic 3							58.0	56.0	57.0					13																	25670378		2203	4300	6503	SO:0001587	stop_gained	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670378C>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.42C>G	13.37:g.25670378C>G	ENSP00000281589:p.Tyr14*						p.Y14*	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	103	+		Lung SC(185;0.0225)|Breast(139;0.0602)	14			RRM 1.		Q8NHV0|Q9H086	Nonsense_Mutation	SNP	ENST00000281589.3	37	c.42C>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412866	0.96072	.	.	ENSG00000151846	ENST00000281589	.	.	.	0.546	0.546	0.17196	.	0.000000	0.35407	U	0.003232	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8935	0.05684	0.0:0.6302:0.0:0.3697	.	.	.	.	X	14	.	ENSP00000281589:Y14X	Y	+	3	2	PABPC3	24568378	0.829000	0.29322	0.739000	0.30968	0.181000	0.23173	-0.372000	0.07504	0.558000	0.29135	0.305000	0.20034	TAC		PASS	0.637	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		11	20	11	20	---	---	---	---
SHISA2	387914	broad.mit.edu	37	13	26620919	26620919	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:26620919C>A	ENST00000319420.3	-	2	675	c.620G>T	c.(619-621)tGc>tTc	p.C207F		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	207					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.C207F(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TTCCGGCAAGCAACAGTTGGT	0.602																																						uc001uqm.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(619-621)TGC>TTC		shisa homolog 2 precursor							137.0	129.0	132.0					13																	26620919		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26620919C>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.620G>T	13.37:g.26620919C>A	ENSP00000313079:p.Cys207Phe						p.C207F	NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN			2	705	-			207			Cytoplasmic (Potential).		B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.620G>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131494	0.77549	.	.	ENSG00000180730	ENST00000319420	T	0.46451	0.87	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.42965	-0.9420	10	0.11485	T	0.65	-43.8161	18.8611	0.92271	0.0:1.0:0.0:0.0	.	207	Q6UWI4	SHSA2_HUMAN	F	207	ENSP00000313079:C207F	ENSP00000313079:C207F	C	-	2	0	SHISA2	25518919	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	7.435000	0.80391	2.447000	0.82792	0.555000	0.69702	TGC		PASS	0.602	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		7	33	7	33	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28919617	28919617	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:28919617G>T	ENST00000282397.4	-	16	2571	c.2320C>A	c.(2320-2322)Ctc>Atc	p.L774I	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	774					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.L774I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTAATAGGAGCCAGAAGAGA	0.413																																						uc001usb.3																			1	Substitution - Missense(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2320-2322)CTC>ATC		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						59.0	58.0	59.0					13																	28919617		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919617G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2320C>A	13.37:g.28919617G>T	ENSP00000282397:p.Leu774Ile					FLT1_uc001usa.3_5'UTR	p.L774I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2605	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	774			Helical; (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2320C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366147	0.61513	.	.	ENSG00000102755	ENST00000282397	T	0.76060	-0.99	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	L	0.46885	1.475	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.77148	-0.2694	10	0.27785	T	0.31	.	14.9724	0.71243	0.0:0.1423:0.8576:0.0	.	774	P17948	VGFR1_HUMAN	I	774	ENSP00000282397:L774I	ENSP00000282397:L774I	L	-	1	0	FLT1	27817617	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.117000	0.50407	2.590000	0.87494	0.555000	0.69702	CTC		PASS	0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			8	18	8	18	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32709039	32709039	+	Splice_Site	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:32709039A>T	ENST00000380250.3	+	9	1381		c.e9-1			NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.?(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCTGCTTCCCAGGAATGTGCA	0.393																																						uc001utx.2																			1	Unknown(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.e9-2		furry homolog							150.0	143.0	145.0					13																	32709039		1885	4101	5986	SO:0001630	splice_region_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32709039A>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.886-1A>T	13.37:g.32709039A>T						FRY_uc010tdw.1_Splice_Site	p.E296_splice	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	9	1382	+		Lung SC(185;0.0271)						Q9Y3N6	Splice_Site	SNP	ENST00000380250.3	37	c.886_splice	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123778	0.56613	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRY	31607039	1.000000	0.71417	0.939000	0.37840	0.374000	0.29953	9.197000	0.94985	2.281000	0.76405	0.533000	0.62120	.		PASS	0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	Intron	22	57	22	57	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344601	33344601	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:33344601G>T	ENST00000315596.10	+	32	4153	c.3967G>T	c.(3967-3969)Gca>Tca	p.A1323S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1323					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.A1323S(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)		TGGACCTCCAGCACCAGAGGA	0.453																																						uc010abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(3967-3969)GCA>TCA		PDS5, regulator of cohesion maintenance, homolog							35.0	34.0	34.0					13																	33344601		1862	4107	5969	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.chr13:33344601G>T	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.3967G>T	13.37:g.33344601G>T	ENSP00000313851:p.Ala1323Ser					PDS5B_uc010abg.2_RNA	p.A1323S	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)	32	4125	+		Lung SC(185;0.0367)	1323					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.3967G>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	7.431	0.638652	0.14386	.	.	ENSG00000083642	ENST00000315596;ENST00000447833	.	.	.	5.78	2.8	0.32819	.	0.624525	0.16855	N	0.196782	T	0.14917	0.0360	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.30149	-0.9988	9	0.11485	T	0.65	-1.6531	9.8592	0.41103	0.2453:0.0:0.7547:0.0	.	1323	Q9NTI5	PDS5B_HUMAN	S	1323;275	.	ENSP00000313851:A1323S	A	+	1	0	PDS5B	32242601	0.022000	0.18835	0.002000	0.10522	0.132000	0.20833	1.165000	0.31822	0.241000	0.21283	0.585000	0.79938	GCA		PASS	0.453	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		11	55	11	55	---	---	---	---
LECT1	11061	broad.mit.edu	37	13	53307398	53307398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:53307398C>A	ENST00000377962.3	-	3	388	c.310G>T	c.(310-312)Gga>Tga	p.G104*	LECT1_ENST00000448904.2_Nonsense_Mutation_p.G104*			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	104	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.G104*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GCTCCACTTCCCATTTTAAAG	0.388																																						uc001vhf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(310-312)GGA>TGA		leukocyte cell derived chemotaxin 1 isoform 1							182.0	173.0	176.0					13																	53307398		2203	4300	6503	SO:0001587	stop_gained	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53307398C>A	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.310G>T	13.37:g.53307398C>A	ENSP00000367198:p.Gly104*					LECT1_uc001vhg.2_Nonsense_Mutation_p.G104*|LECT1_uc001vhh.2_Nonsense_Mutation_p.G131*	p.G104*	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	3	421	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	104			BRICHOS.		Q5TAM4|Q8TAY6|Q9UM18	Nonsense_Mutation	SNP	ENST00000377962.3	37	c.310G>T	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	37	6.383588	0.97524	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550;ENST00000545757	.	.	.	6.07	6.07	0.98685	.	0.047424	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	104;104;26;84	.	ENSP00000367198:G104X	G	-	1	0	LECT1	52205399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.492000	0.53259	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.388	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			6	93	6	93	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681347	70681347	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:70681347C>G	ENST00000377844.4	-	1	1244	c.485G>C	c.(484-486)gGa>gCa	p.G162A	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_Missense_Mutation_p.G30A|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	162					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.G162A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGTCCACATCCTTCACCTGT	0.517																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)GGA>GCA		kelch-like 1 protein							127.0	105.0	113.0					13																	70681347		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681347C>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.485G>C	13.37:g.70681347C>G	ENSP00000367075:p.Gly162Ala					KLHL1_uc010thm.1_Missense_Mutation_p.G162A|ATXN8OS_uc010aej.1_RNA	p.G162A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1279	-		Breast(118;0.000162)	162					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.485G>C	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070112	0.36566	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.72505	-0.66;-0.27	5.5	4.64	0.57946	.	0.539390	0.16399	N	0.216109	T	0.76948	0.4059	L	0.36672	1.1	0.24946	N	0.991827	D;B	0.76494	0.999;0.077	D;B	0.73708	0.981;0.012	T	0.68447	-0.5406	10	0.46703	T	0.11	.	13.6056	0.62046	0.0:0.8446:0.1554:0.0	.	162;162	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	A	162;30	ENSP00000367075:G162A;ENSP00000439602:G30A	ENSP00000367075:G162A	G	-	2	0	KLHL1	69579348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.479000	0.45197	1.275000	0.44379	0.655000	0.94253	GGA		PASS	0.517	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		25	40	25	40	---	---	---	---
CLDN10	9071	broad.mit.edu	37	13	96086185	96086185	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:96086185G>A	ENST00000376873.3	+	1	328	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	35					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.R33Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTGACCACGCGAGCCTCCTCG	0.562																																						uc001vmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)CGA>CAA		claudin 10 isoform a							126.0	104.0	112.0					13																	96086185		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96086185G>A	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.98G>A	13.37:g.96086185G>A	ENSP00000366069:p.Arg33Gln					CLDN10_uc010tii.1_Missense_Mutation_p.R33Q	p.R33Q	NM_182848	NP_878268	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	333	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000376873.3	37	c.98G>A	CCDS9475.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309359	0.81247	.	.	ENSG00000134873	ENST00000376873	D	0.88509	-2.39	5.44	5.44	0.79542	.	.	.	.	.	D	0.89301	0.6676	.	.	.	0.80722	D	1	P	0.52061	0.95	P	0.44921	0.464	D	0.90658	0.4588	8	0.72032	D	0.01	.	17.8181	0.88642	0.0:0.0:1.0:0.0	.	33	Q96N78	.	Q	33	ENSP00000366069:R33Q	ENSP00000366069:R33Q	R	+	2	0	CLDN10	94884186	1.000000	0.71417	0.463000	0.27130	0.346000	0.29079	9.282000	0.95840	2.712000	0.92718	0.563000	0.77884	CGA		PASS	0.562	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984		8	29	8	29	---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114781703	114781703	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:114781703C>T	ENST00000334062.7	-	13	1372	c.1251G>A	c.(1249-1251)ttG>ttA	p.L417L	RASA3_ENST00000389544.4_Silent_p.L385L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	417	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L417L(1)|p.L417F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCGTCTTTCAACTTCACAG	0.517																																						uc001vui.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|breast(1)	lung(3)|skin(1)	4						c.(1249-1251)TTG>TTA		RAS p21 protein activator 3							162.0	138.0	146.0					13																	114781703		2203	4300	6503	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114781703C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1251G>A	13.37:g.114781703C>T						RASA3_uc010tkk.1_Silent_p.L385L|RASA3_uc001vuj.2_Silent_p.L34L	p.L417L	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		13	1382	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	417			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.1251G>A	CCDS32016.1																																																																																				PASS	0.517	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		4	15	4	15	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115091231	115091231	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr13:115091231A>T	ENST00000361283.1	+	3	2223	c.1914A>T	c.(1912-1914)aaA>aaT	p.K638N		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	638	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K638N(1)									AGTACATAAAAACAGATTTGG	0.393																																						uc010ahb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1912-1914)AAA>AAT		zinc finger protein 828							80.0	84.0	83.0					13																	115091231		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091231A>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1914A>T	13.37:g.115091231A>T	ENSP00000354730:p.Lys638Asn					ZNF828_uc001vuv.2_Missense_Mutation_p.K638N|ZNF828_uc010tko.1_Missense_Mutation_p.K638N	p.K638N	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	2243	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	638			Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1914A>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	8.912	0.958888	0.18507	.	.	ENSG00000198824	ENST00000361283	T	0.01246	5.11	5.07	-0.0987	0.13627	.	0.210049	0.33401	N	0.004955	T	0.01222	0.0040	L	0.36672	1.1	0.24745	N	0.993013	B	0.20261	0.043	B	0.24269	0.052	T	0.47573	-0.9107	9	.	.	.	-9.2466	4.9569	0.14046	0.5071:0.0:0.3583:0.1345	.	638	Q96JM3	ZN828_HUMAN	N	638	ENSP00000354730:K638N	.	K	+	3	2	ZNF828	114109333	0.959000	0.32827	0.581000	0.28614	0.743000	0.42351	0.738000	0.26158	-0.146000	0.11274	0.533000	0.62120	AAA		PASS	0.393	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		10	73	10	73	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19378014	19378014	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:19378014A>G	ENST00000550708.1	+	1	493	c.421A>G	c.(421-423)Atc>Gtc	p.I141V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I141V(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTACCTTGCTATCTGCCGTCC	0.453																																						uc010tkp.1																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(2)	2						c.(421-423)ATC>GTC		olfactory receptor, family 11, subfamily H,							31.0	31.0	31.0					14																	19378014		2195	4272	6467	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378014A>G		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.421A>G	14.37:g.19378014A>G	ENSP00000449002:p.Ile141Val						p.I141V	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	421	+	all_cancers(95;0.00108)		141			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.421A>G	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	a	10.97	1.502344	0.26949	.	.	ENSG00000257115	ENST00000550708	T	0.50813	0.73	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.161832	0.27966	N	0.017138	T	0.46347	0.1388	M	0.78916	2.43	0.21445	N	0.999688	D	0.56035	0.974	P	0.47134	0.539	T	0.54866	-0.8229	9	0.59425	D	0.04	.	2.7504	0.05279	0.6523:0.0:0.3477:0.0	.	141	B2RN74	O11HC_HUMAN	V	141	ENSP00000449002:I141V	ENSP00000449002:I141V	I	+	1	0	CR383656.1	18448014	0.970000	0.33590	0.133000	0.22050	0.035000	0.12851	3.470000	0.53100	0.518000	0.28383	0.055000	0.15244	ATC		PASS	0.453	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		11	148	11	148	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884304	23884304	+	Missense_Mutation	SNP	C	C	T	rs371855540		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:23884304C>T	ENST00000355349.3	-	37	5621	c.5459G>A	c.(5458-5460)cGg>cAg	p.R1820Q	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1820					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)	p.R1820Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCAGCTCCCGCACCCGCGC	0.627																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5458-5460)CGG>CAG		myosin, heavy chain 7, cardiac muscle, beta		C	GLN/ARG	0,4406		0,0,2203	92.0	90.0	91.0		5459	5.3	1.0	14		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH7	NM_000257.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1820/1936	23884304	1,13005	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884304C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5459G>A	14.37:g.23884304C>T	ENSP00000347507:p.Arg1820Gln						p.R1820Q	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5565	-	all_cancers(95;2.54e-05)		1820			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5459G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862574	0.91511	0.0	1.16E-4	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80994	-1.44	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.89594	0.6760	M	0.90705	3.14	0.50813	D	0.99989	P	0.52842	0.956	P	0.53722	0.733	D	0.91590	0.5286	9	0.87932	D	0	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	1820	P12883	MYH7_HUMAN	Q	1820;1825	ENSP00000347507:R1820Q	ENSP00000347507:R1820Q	R	-	2	0	MYH7	22954144	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.271000	0.58902	2.750000	0.94351	0.563000	0.77884	CGG		PASS	0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		10	81	10	81	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26917955	26917955	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:26917955G>T	ENST00000539517.2	-	5	1051	c.734C>A	c.(733-735)cCa>cAa	p.P245Q	NOVA1_ENST00000267422.7_Missense_Mutation_p.P123Q|NOVA1_ENST00000465357.2_Missense_Mutation_p.P221Q	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	248					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P245Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCCACTTTGTGGATCCTCTTG	0.453																																						uc001wpy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(733-735)CCA>CAA		neuro-oncological ventral antigen 1 isoform 1							213.0	192.0	199.0					14																	26917955		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917955G>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.734C>A	14.37:g.26917955G>T	ENSP00000438875:p.Pro245Gln					NOVA1_uc001wpz.2_Missense_Mutation_p.P221Q|NOVA1_uc001wqa.2_Missense_Mutation_p.P123Q	p.P245Q	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1052	-			248					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.734C>A	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941875	0.73557	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.987;0.994	T	0.79988	-0.1571	10	0.72032	D	0.01	-4.0225	19.8956	0.96956	0.0:0.0:1.0:0.0	.	248;221;245	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	Q	221;245;123;204;99	ENSP00000447391:P221Q;ENSP00000438875:P245Q;ENSP00000267422:P123Q;ENSP00000408914:P204Q;ENSP00000299472:P99Q	ENSP00000267422:P123Q	P	-	2	0	NOVA1	25987795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.708000	0.92522	0.563000	0.77884	CCA		PASS	0.453	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		5	52	5	52	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52520558	52520558	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:52520558C>G	ENST00000216286.5	-	5	1167	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	NID2_ENST00000541773.1_Missense_Mutation_p.E337Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	390					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.E390Q(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)					CTTCTGGTCTCTCTCTCATCC	0.547																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1168-1170)GAG>CAG		nidogen 2 precursor							98.0	84.0	89.0					14																	52520558		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520558C>G	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.1168G>C	14.37:g.52520558C>G	ENSP00000216286:p.Glu390Gln					NID2_uc010tqs.1_Missense_Mutation_p.E390Q|NID2_uc010tqt.1_Missense_Mutation_p.E390Q|NID2_uc001wzp.2_Missense_Mutation_p.E390Q	p.E390Q	NM_007361	NP_031387	Q14112	NID2_HUMAN			5	1402	-	Breast(41;0.0639)|all_epithelial(31;0.123)		390					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1168G>C	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	7.771	0.707498	0.15239	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83914	-1.78;-1.67	5.55	4.67	0.58626	.	1.257290	0.05016	N	0.471789	T	0.69178	0.3082	N	0.08118	0	0.09310	N	1	B;B;B	0.29341	0.039;0.242;0.014	B;B;B	0.21917	0.014;0.037;0.008	T	0.54214	-0.8327	10	0.15952	T	0.53	.	12.4236	0.55534	0.0:0.9186:0.0:0.0814	.	337;392;390	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	Q	390;337;392	ENSP00000216286:E390Q;ENSP00000443730:E337Q	ENSP00000216286:E390Q	E	-	1	0	NID2	51590308	0.008000	0.16893	0.002000	0.10522	0.000000	0.00434	1.218000	0.32467	1.339000	0.45563	-0.137000	0.14449	GAG		PASS	0.547	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			14	31	14	31	---	---	---	---
SAMD4A	23034	broad.mit.edu	37	14	55231189	55231189	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:55231189G>T	ENST00000554335.1	+	8	2190	c.1527G>T	c.(1525-1527)ttG>ttT	p.L509F	SAMD4A_ENST00000357634.3_Missense_Mutation_p.L508F|SAMD4A_ENST00000392067.3_Missense_Mutation_p.L509F|SAMD4A_ENST00000555192.1_Missense_Mutation_p.L100F|SAMD4A_ENST00000251091.5_Missense_Mutation_p.L421F			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	509					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.L508F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CACAGCTCTTGGTCTCCAGAC	0.388																																						uc001xbb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1522-1524)TTG>TTT		sterile alpha motif domain containing 4 isoform							169.0	176.0	174.0					14																	55231189		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55231189G>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1527G>T	14.37:g.55231189G>T	ENSP00000452535:p.Leu509Phe					SAMD4A_uc001xbc.2_Missense_Mutation_p.L420F|SAMD4A_uc001xbg.2_Missense_Mutation_p.L100F	p.L508F	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			7	1525	+			509					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1524G>T	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266488	0.59540	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	4.78	4.78	0.61160	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.64402	D	0.000003	T	0.71290	0.3322	M	0.73962	2.25	0.47094	D	0.999312	D;D;D	0.89917	1.0;0.998;0.991	D;D;P	0.80764	0.994;0.964;0.804	T	0.73688	-0.3904	9	0.72032	D	0.01	-6.9042	7.3449	0.26658	0.0927:0.0:0.7359:0.1714	.	100;421;509	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	F	509;509;421;420;508;100	.	ENSP00000251091:L138F	L	+	3	2	SAMD4A	54300939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.242000	0.43106	2.492000	0.84095	0.514000	0.50259	TTG		PASS	0.388	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		6	169	6	169	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64599130	64599130	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:64599130G>T	ENST00000344113.4	+	77	14700	c.14488G>T	c.(14488-14490)Ggt>Tgt	p.G4830C	SYNE2_ENST00000358025.3_Missense_Mutation_p.G4830C|SYNE2_ENST00000554584.1_Missense_Mutation_p.G4747C|SYNE2_ENST00000555002.1_Missense_Mutation_p.G1464C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.G1215C|SYNE2_ENST00000357395.3_Missense_Mutation_p.G1215C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4830					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.G4830C(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACGCCAATGTGGTATGAAGCT	0.403																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(14488-14490)GGT>TGT		spectrin repeat containing, nuclear envelope 2							86.0	89.0	88.0					14																	64599130		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64599130G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14488G>T	14.37:g.64599130G>T	ENSP00000341781:p.Gly4830Cys					SYNE2_uc001xgl.2_Missense_Mutation_p.G4830C|SYNE2_uc010apy.2_Missense_Mutation_p.G1215C|SYNE2_uc010apz.1_Missense_Mutation_p.G722C	p.G4830C	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	77	14718	+			4830			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.14488G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367476	0.24771	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.63744	0.18;3.24;0.18;-0.06;3.35;3.24	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000055	T	0.79251	0.4414	M	0.76328	2.33	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	T	0.78529	-0.2169	10	0.48119	T	0.1	.	17.2717	0.87104	0.0:0.0:1.0:0.0	.	1215;4830;4830	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	C	4830;1215;4830;4747;4747;1464;1215	ENSP00000350719:G4830C;ENSP00000349969:G1215C;ENSP00000341781:G4830C;ENSP00000452570:G4747C;ENSP00000450831:G1464C;ENSP00000378249:G1215C	ENSP00000261678:G4747C	G	+	1	0	SYNE2	63668883	1.000000	0.71417	0.548000	0.28192	0.453000	0.32348	5.663000	0.68038	2.819000	0.97034	0.655000	0.94253	GGT		PASS	0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	77	6	77	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68220848	68220848	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:68220848G>T	ENST00000347230.4	-	38	7206	c.7068C>A	c.(7066-7068)acC>acA	p.T2356T	ZFYVE26_ENST00000557306.1_Silent_p.T202T|RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2356					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.T2356T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGGCAAAGTGGTGATTTGAG	0.488																																						uc001xka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)	11						c.(7066-7068)ACC>ACA		zinc finger, FYVE domain containing 26							209.0	196.0	200.0					14																	68220848		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68220848G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7068C>A	14.37:g.68220848G>T						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.T202T	p.T2356T	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	38	7207	-			2356					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.7068C>A	CCDS9788.1																																																																																				PASS	0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		8	185	8	185	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88945368	88945368	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:88945368T>A	ENST00000556564.1	-	13	2691	c.2407A>T	c.(2407-2409)Acg>Tcg	p.T803S	PTPN21_ENST00000328736.3_Missense_Mutation_p.T803S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	803					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.T803S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGCCTGACGTGGTGAGGTCG	0.652																																						uc001xwv.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2407-2409)ACG>TCG		protein tyrosine phosphatase, non-receptor type							43.0	46.0	45.0					14																	88945368		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945368T>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2407A>T	14.37:g.88945368T>A	ENSP00000452414:p.Thr803Ser					PTPN21_uc010twc.1_Missense_Mutation_p.T599S	p.T803S	NM_007039	NP_008970	Q16825	PTN21_HUMAN			13	2738	-			803						Missense_Mutation	SNP	ENST00000556564.1	37	c.2407A>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.382327	0.42207	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.72394	-0.65;-0.65	5.55	5.55	0.83447	.	0.330345	0.33457	N	0.004884	T	0.56156	0.1966	N	0.21142	0.635	0.28144	N	0.929665	B	0.14012	0.009	B	0.14023	0.01	T	0.53627	-0.8412	10	0.54805	T	0.06	.	10.105	0.42528	0.0:0.0747:0.0:0.9253	.	803	Q16825	PTN21_HUMAN	S	803	ENSP00000330276:T803S;ENSP00000452414:T803S	ENSP00000330276:T803S	T	-	1	0	PTPN21	88015121	0.971000	0.33674	0.960000	0.40013	0.614000	0.37383	1.932000	0.40143	2.111000	0.64477	0.533000	0.62120	ACG		PASS	0.652	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			9	22	9	22	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94008943	94008943	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr14:94008943G>A	ENST00000393151.2	+	14	1656	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	UNC79_ENST00000256339.4_Silent_p.L375L|UNC79_ENST00000555664.1_Silent_p.L552L|UNC79_ENST00000553484.1_Silent_p.L552L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	552					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L375L(1)|p.L552L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGAAAAGCTGAAGCCTCAGT	0.498																																						uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(1123-1125)CTG>CTA		hypothetical protein LOC57578							260.0	213.0	229.0					14																	94008943		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94008943G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1656G>A	14.37:g.94008943G>A						KIAA1409_uc001ybs.1_Silent_p.L375L	p.L375L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	11	1208	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	552					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1125G>A																																																																																					PASS	0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		20	61	20	61	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811260	23811260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:23811260G>T	ENST00000314520.3	+	1	807	c.331G>T	c.(331-333)Gag>Tag	p.E111*	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	111					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E111*(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCAGTGCAAGGAGGGGGAGAA	0.597																																						uc001ywh.3																			1	Substitution - Nonsense(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(331-333)GAG>TAG		makorin ring finger protein 3							61.0	62.0	62.0					15																	23811260		2203	4300	6503	SO:0001587	stop_gained	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811260G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.331G>T	15.37:g.23811260G>T	ENSP00000313881:p.Glu111*					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.E111*	p.E111*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	807	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	111			C3H1-type 1.			Nonsense_Mutation	SNP	ENST00000314520.3	37	c.331G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	41	9.037286	0.99044	.	.	ENSG00000179455	ENST00000314520	.	.	.	3.83	1.93	0.25924	.	0.111068	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.5539	0.17105	0.11:0.2009:0.689:0.0	.	.	.	.	X	111	.	ENSP00000313881:E111X	E	+	1	0	MKRN3	21362353	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.453000	0.60061	0.583000	0.29574	0.563000	0.77884	GAG		PASS	0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		31	46	31	46	---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43527770	43527770	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:43527770C>A	ENST00000220420.5	-	10	1618	c.1611G>T	c.(1609-1611)aaG>aaT	p.K537N	TGM5_ENST00000349114.4_Missense_Mutation_p.K455N	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	537					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.K537N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTTTGAGGTCCTTGAACTGGG	0.557																																						uc001zrd.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1609-1611)AAG>AAT		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						90.0	69.0	76.0					15																	43527770		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527770C>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1611G>T	15.37:g.43527770C>A	ENSP00000220420:p.Lys537Asn					TGM5_uc001zrc.1_Missense_Mutation_p.K194N|TGM5_uc001zre.1_Missense_Mutation_p.K455N	p.K537N	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1619	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	537					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1611G>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608277	0.66558	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.69926	-0.44;-0.44	5.58	3.68	0.42216	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.106801	0.64402	D	0.000009	T	0.76637	0.4015	M	0.73217	2.22	0.36869	D	0.888816	D;D	0.67145	0.991;0.996	D;D	0.70227	0.93;0.968	T	0.80216	-0.1474	10	0.59425	D	0.04	-28.9086	7.9398	0.29952	0.0:0.7453:0.0:0.2547	.	455;537	O43548-2;O43548	.;TGM5_HUMAN	N	537;455;536	ENSP00000220420:K537N;ENSP00000220419:K455N	ENSP00000220420:K537N	K	-	3	2	TGM5	41315062	0.995000	0.38212	1.000000	0.80357	0.949000	0.60115	1.388000	0.34442	1.362000	0.46000	0.655000	0.94253	AAG		PASS	0.557	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		12	23	12	23	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43707872	43707872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:43707872G>C	ENST00000263801.3	-	23	5246	c.4994C>G	c.(4993-4995)tCa>tGa	p.S1665*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.S1670*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.S1670*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.S1620*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1665					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S1665*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTTTTGCCTGAGAGAACTCC	0.537								Other conserved DNA damage response genes																														uc001zrs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(4993-4995)TCA>TGA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							155.0	142.0	146.0					15																	43707872		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43707872G>C	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4994C>G	15.37:g.43707872G>C	ENSP00000263801:p.Ser1665*					TP53BP1_uc010udp.1_Nonsense_Mutation_p.S1665*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.S1670*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.S1670*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.S1670*|TP53BP1_uc001zrp.2_Nonsense_Mutation_p.S82*	p.S1665*	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	23	5142	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1665					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.4994C>G	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	45	12.007303	0.99626	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.24	5.24	0.73138	.	0.135059	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.9812	19.1943	0.93681	0.0:0.0:1.0:0.0	.	.	.	.	X	1665;1670;1620;1670	.	ENSP00000263801:S1665X	S	-	2	0	TP53BP1	41495164	1.000000	0.71417	0.544000	0.28141	0.995000	0.86356	8.040000	0.89188	2.607000	0.88179	0.563000	0.77884	TCA		PASS	0.537	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			4	91	4	91	---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51676070	51676070	+	Silent	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:51676070T>C	ENST00000335449.6	+	4	578	c.522T>C	c.(520-522)aaT>aaC	p.N174N	GLDN_ENST00000396399.2_Silent_p.N50N	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	174	Collagen-like 1.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N174N(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AAGGAGCAAATGGAAAAAGAG	0.468																																						uc002aba.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(520-522)AAT>AAC		gliomedin							43.0	43.0	43.0					15																	51676070		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51676070T>C	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.522T>C	15.37:g.51676070T>C						GLDN_uc010bez.1_Missense_Mutation_p.M157T|GLDN_uc002abb.2_Silent_p.N50N	p.N174N	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	4	691	+			174			Extracellular (Potential).|Collagen-like 1.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.522T>C	CCDS10140.2																																																																																				PASS	0.468	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		7	12	7	12	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53889379	53889379	+	Silent	SNP	G	G	T	rs537478196		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:53889379G>T	ENST00000396328.1	-	18	3284	c.3045C>A	c.(3043-3045)tcC>tcA	p.S1015S	WDR72_ENST00000559418.1_Silent_p.S1025S|WDR72_ENST00000360509.5_Silent_p.S1015S|WDR72_ENST00000557913.1_Silent_p.S1012S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1015								p.S1015S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTCTGCCATGGACACTGGTT	0.448																																						uc002acj.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(3043-3045)TCC>TCA		WD repeat domain 72							280.0	242.0	255.0					15																	53889379		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53889379G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3045C>A	15.37:g.53889379G>T							p.S1015S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3087	-			1015					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.3045C>A	CCDS10151.1																																																																																				PASS	0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		7	153	7	153	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71302258	71302258	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:71302258A>G	ENST00000260382.5	+	13	1780	c.1520A>G	c.(1519-1521)aAt>aGt	p.N507S	LRRC49_ENST00000443425.2_Missense_Mutation_p.N463S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.N195S|LRRC49_ENST00000544974.2_Missense_Mutation_p.N497S|LRRC49_ENST00000560691.1_Missense_Mutation_p.N213S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N512S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	507						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.N507S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CCAGTTGTCAATTTTACACTC	0.373																																						uc002asw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1519-1521)AAT>AGT		leucine rich repeat containing 49							98.0	93.0	95.0					15																	71302258		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71302258A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1520A>G	15.37:g.71302258A>G	ENSP00000260382:p.Asn507Ser					LRRC49_uc002asu.2_Missense_Mutation_p.N497S|LRRC49_uc002asx.2_Missense_Mutation_p.N463S|LRRC49_uc010ukf.1_Missense_Mutation_p.N512S|LRRC49_uc002asy.2_Missense_Mutation_p.N213S|LRRC49_uc002asz.2_Missense_Mutation_p.N479S	p.N507S	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			13	1767	+			507					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1520A>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	5.219	0.225941	0.09916	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.30981	1.52;1.51;1.52	5.72	0.934	0.19477	.	0.258603	0.42964	N	0.000622	T	0.15696	0.0378	N	0.25144	0.715	0.34251	D	0.678781	B;B;B;B;B	0.09022	0.0;0.001;0.001;0.0;0.002	B;B;B;B;B	0.09377	0.001;0.004;0.002;0.001;0.002	T	0.30297	-0.9983	10	0.10636	T	0.68	-7.1986	8.4681	0.32969	0.6858:0.0:0.3142:0.0	.	512;479;463;507;497	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	497;507;463;479	ENSP00000439600:N497S;ENSP00000260382:N507S;ENSP00000414065:N463S	ENSP00000260382:N507S	N	+	2	0	LRRC49	69089312	0.706000	0.27856	0.985000	0.45067	0.970000	0.65996	0.324000	0.19610	0.112000	0.17975	-0.376000	0.06991	AAT		PASS	0.373	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		21	44	21	44	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77471444	77471444	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:77471444T>A	ENST00000560626.2	-	4	3300	c.2825A>T	c.(2824-2826)gAc>gTc	p.D942V	PEAK1_ENST00000558305.1_Missense_Mutation_p.D942V|PEAK1_ENST00000312493.4_Missense_Mutation_p.D942V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	942					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.D942V(2)									TTTCTCTTTGTCATCCTCCTC	0.522																																						uc002bcm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2824-2826)GAC>GTC		NKF3 kinase family member							114.0	132.0	126.0					15																	77471444		2013	4179	6192	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77471444T>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2825A>T	15.37:g.77471444T>A	ENSP00000452796:p.Asp942Val					SGK269_uc002bcn.2_Missense_Mutation_p.D942V	p.D942V	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	3133	-			942					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.2825A>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596986	0.46318	.	.	ENSG00000173517	ENST00000312493	T	0.69685	-0.42	5.91	4.77	0.60923	.	0.494918	0.20080	N	0.099670	T	0.52025	0.1709	N	0.19112	0.55	0.43110	D	0.994812	B	0.24258	0.1	B	0.20577	0.03	T	0.50808	-0.8784	10	0.72032	D	0.01	-5.198	12.1034	0.53798	0.0:0.0:0.2724:0.7276	.	942	Q9H792	PEAK1_HUMAN	V	942	ENSP00000309230:D942V	ENSP00000309230:D942V	D	-	2	0	AC087465.1	75258499	1.000000	0.71417	0.935000	0.37517	0.993000	0.82548	3.886000	0.56190	1.036000	0.39998	0.533000	0.62120	GAC		PASS	0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			11	35	11	35	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86122678	86122678	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:86122678C>T	ENST00000394518.2	+	7	1474	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	AKAP13_ENST00000361243.2_Missense_Mutation_p.S460F|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	460					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S460F(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCCCAGTATTCCTCTGGAGGT	0.522																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(1378-1380)TCC>TTC		A-kinase anchor protein 13 isoform 2							65.0	69.0	68.0					15																	86122678		2202	4299	6501	SO:0001583	missense	11214				apoptosis|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|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122678C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1379C>T	15.37:g.86122678C>T	ENSP00000378026:p.Ser460Phe					AKAP13_uc002blt.1_Missense_Mutation_p.S460F|AKAP13_uc002blu.1_Missense_Mutation_p.S460F	p.S460F	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	1549	+			460					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1379C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615102	0.28712	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10382	2.9;2.88	5.09	-5.86	0.02304	.	.	.	.	.	T	0.04003	0.0112	N	0.04880	-0.145	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.41197	-0.9522	9	0.52906	T	0.07	.	4.3956	0.11362	0.1197:0.5532:0.1207:0.2064	.	460;460	Q12802;Q12802-2	AKP13_HUMAN;.	F	460;460;459;459	ENSP00000354718:S460F;ENSP00000378026:S460F	ENSP00000354718:S460F	S	+	2	0	AKAP13	83923682	0.000000	0.05858	0.000000	0.03702	0.497000	0.33675	-0.977000	0.03782	-1.089000	0.03073	0.563000	0.77884	TCC		PASS	0.522	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	114	7	114	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86124952	86124952	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:86124952C>T	ENST00000394518.2	+	7	3748	c.3653C>T	c.(3652-3654)gCc>gTc	p.A1218V	AKAP13_ENST00000361243.2_Missense_Mutation_p.A1218V|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1218					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.A1218V(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTCATGCGAGCCCCGCCTTCA	0.612																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(3652-3654)GCC>GTC		A-kinase anchor protein 13 isoform 2							49.0	48.0	48.0					15																	86124952		2202	4299	6501	SO:0001583	missense	11214				apoptosis|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|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124952C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3653C>T	15.37:g.86124952C>T	ENSP00000378026:p.Ala1218Val					AKAP13_uc002blt.1_Missense_Mutation_p.A1218V|AKAP13_uc002blu.1_Missense_Mutation_p.A1218V|AKAP13_uc010bne.1_5'Flank	p.A1218V	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	3823	+			1218					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3653C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820819	0.32145	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.13089	2.62;2.62	4.22	-4.55	0.03441	.	.	.	.	.	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.37798	-0.9690	9	0.45353	T	0.12	.	1.0899	0.01661	0.1335:0.2635:0.2637:0.3392	.	1218;1218	Q12802;Q12802-2	AKP13_HUMAN;.	V	1218;1218;1217;1217	ENSP00000354718:A1218V;ENSP00000378026:A1218V	ENSP00000354718:A1218V	A	+	2	0	AKAP13	83925956	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.962000	0.03841	-0.753000	0.04721	-0.155000	0.13514	GCC		PASS	0.612	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	34	6	34	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86125189	86125189	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:86125189C>T	ENST00000394518.2	+	7	3985	c.3890C>T	c.(3889-3891)aCa>aTa	p.T1297I	AKAP13_ENST00000361243.2_Missense_Mutation_p.T1297I|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1297					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.T1297I(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTGCTTTTACAGAAAAAGTG	0.552																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(3889-3891)ACA>ATA		A-kinase anchor protein 13 isoform 2							59.0	56.0	57.0					15																	86125189		2202	4299	6501	SO:0001583	missense	11214				apoptosis|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|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86125189C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3890C>T	15.37:g.86125189C>T	ENSP00000378026:p.Thr1297Ile					AKAP13_uc002blt.1_Missense_Mutation_p.T1297I|AKAP13_uc002blu.1_Missense_Mutation_p.T1297I|AKAP13_uc010bne.1_5'Flank	p.T1297I	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	4060	+			1297					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3890C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676561	0.29783	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.18502	2.21;2.21	5.53	3.64	0.41730	.	.	.	.	.	T	0.13200	0.0320	L	0.40543	1.245	0.21416	N	0.999695	B;B	0.33583	0.294;0.418	B;B	0.27076	0.034;0.076	T	0.17501	-1.0367	9	0.62326	D	0.03	.	7.7143	0.28696	0.0:0.748:0.1641:0.0879	.	1297;1297	Q12802;Q12802-2	AKP13_HUMAN;.	I	1297;1297;1296;1296	ENSP00000354718:T1297I;ENSP00000378026:T1297I	ENSP00000354718:T1297I	T	+	2	0	AKAP13	83926193	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	0.237000	0.17985	0.670000	0.31165	0.655000	0.94253	ACA		PASS	0.552	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		14	84	14	84	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100332419	100332419	+	RNA	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr15:100332419C>A	ENST00000341853.1	-	0	1772				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)	p.L40M(1)									TATGGACCTCCTGGAGGAGAA	0.557																																						uc010urx.1																			1	Substitution - Missense(1)		lung(1)		0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							127.0	130.0	129.0					15																	100332419		876	1991	2867			196968							g.chr15:100332419C>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332419C>A						C15orf51_uc010ury.1_RNA		NR_003260						5		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.1773G>T																																																																																					PASS	0.557	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		22	81	22	81	---	---	---	---
RHOT2	89941	broad.mit.edu	37	16	723528	723528	+	Silent	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:723528G>T	ENST00000315082.4	+	19	1893	c.1779G>T	c.(1777-1779)ggG>ggT	p.G593G	RHBDL1_ENST00000219551.2_5'Flank|RHBDL1_ENST00000352681.3_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	593	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G593G(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GGCTCCGGGGGCTGCTGGGGG	0.622																																						uc002cip.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1777-1779)GGG>GGT		ras homolog gene family, member T2							60.0	74.0	69.0					16																	723528		2200	4293	6493	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:723528G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1779G>T	16.37:g.723528G>T						RHOT2_uc002ciq.2_Silent_p.G486G|RHOT2_uc010bqy.2_Silent_p.G372G|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank	p.G593G	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN			19	1846	+		Hepatocellular(780;0.0218)	593			Miro 2.|Helical; Anchor for type IV membrane protein; (Potential).		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.1779G>T	CCDS10417.1																																																																																				PASS	0.622	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		12	46	12	46	---	---	---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073520	3073520	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:3073520C>A	ENST00000248089.3	-	2	411	c.107G>T	c.(106-108)cGa>cTa	p.R36L	HCFC1R1_ENST00000354679.3_Intron|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000572355.1_5'UTR|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000396916.1_Missense_Mutation_p.R36L|HCFC1R1_ENST00000574980.1_Missense_Mutation_p.R36L|THOC6_ENST00000574549.1_5'Flank|HCFC1R1_ENST00000574151.1_Intron	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	36						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R36L(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CACAGCTCCTCGGAGAGGGGA	0.632																																						uc002csx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)CGA>CTA		host cell factor C1 regulator 1 (XPO1 dependant)							42.0	46.0	44.0					16																	3073520		2198	4300	6498	SO:0001583	missense	54985					cytoplasm|nucleus		g.chr16:3073520C>A	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.107G>T	16.37:g.3073520C>A	ENSP00000248089:p.Arg36Leu					HCFC1R1_uc002csy.1_Missense_Mutation_p.R36L|HCFC1R1_uc002csz.1_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	p.R36L	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN			3	240	-			36					D3DUA7|Q68EN7	Missense_Mutation	SNP	ENST00000248089.3	37	c.107G>T	CCDS10490.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809819	0.50421	.	.	ENSG00000103145	ENST00000248089;ENST00000396916	T;T	0.52295	0.67;0.67	5.22	0.832	0.18867	.	0.664324	0.12289	N	0.482161	T	0.27559	0.0677	N	0.19112	0.55	0.25671	N	0.985891	B	0.33940	0.433	B	0.32724	0.151	T	0.13282	-1.0515	10	0.36615	T	0.2	.	5.3109	0.15829	0.0:0.5978:0.146:0.2562	.	36	Q9NWW0	HPIP_HUMAN	L	36	ENSP00000248089:R36L;ENSP00000380123:R36L	ENSP00000248089:R36L	R	-	2	0	HCFC1R1	3013521	0.945000	0.32115	0.981000	0.43875	0.998000	0.95712	0.099000	0.15210	0.188000	0.20168	0.555000	0.69702	CGA		PASS	0.632	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885		3	11	3	11	---	---	---	---
GLYR1	84656	broad.mit.edu	37	16	4871572	4871572	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:4871572C>T	ENST00000321919.9	-	8	784	c.708G>A	c.(706-708)acG>acA	p.T236T	GLYR1_ENST00000586901.1_5'Flank|GLYR1_ENST00000436648.5_Silent_p.T155T|GLYR1_ENST00000591451.1_Silent_p.T236T|GLYR1_ENST00000381983.3_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	236					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.T236T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCAACTTCTTCGTGATTGCCT	0.448																																						uc002cxx.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)ACG>ACA		cytokine-like nuclear factor n-pac							87.0	77.0	80.0					16																	4871572		2197	4300	6497	SO:0001819	synonymous_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4871572C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.708G>A	16.37:g.4871572C>T						GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Intron|GLYR1_uc002cya.2_Silent_p.T236T|GLYR1_uc010uxv.1_Silent_p.T155T	p.T236T	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			8	745	-			236					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Silent	SNP	ENST00000321919.9	37	c.708G>A	CCDS10524.1																																																																																				PASS	0.448	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		7	38	7	38	---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23614791	23614791	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:23614791G>T	ENST00000261584.4	-	13	3702	c.3550C>A	c.(3550-3552)Cac>Aac	p.H1184N	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1184	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H1186N(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TATGAATAGTGGTATACAAAT	0.358			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(3550-3552)CAC>AAC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							75.0	77.0	76.0					16																	23614791		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23614791G>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3550C>A	16.37:g.23614791G>T	ENSP00000261584:p.His1184Asn						p.H1184N	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	13	3750	-			1184			Interaction with RAD51 and BRCA2.|WD 7.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3550C>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372592	0.24857	.	.	ENSG00000083093	ENST00000261584	T	0.26067	1.76	6.01	2.58	0.30949	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.647404	0.15715	N	0.248208	T	0.17874	0.0429	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.17745	-1.0359	10	0.48119	T	0.1	-0.6893	4.0535	0.09806	0.1948:0.0:0.4217:0.3836	.	1184	Q86YC2	PALB2_HUMAN	N	1184	ENSP00000261584:H1184N	ENSP00000261584:H1184N	H	-	1	0	PALB2	23522292	0.013000	0.17824	0.013000	0.15412	0.076000	0.17211	0.317000	0.19487	0.764000	0.33197	0.650000	0.86243	CAC		PASS	0.358	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		5	47	5	47	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29997772	29997772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:29997772G>T	ENST00000308893.4	+	16	3222	c.2179G>T	c.(2179-2181)Gag>Tag	p.E727*	TAOK2_ENST00000416441.2_Nonsense_Mutation_p.E554*|TAOK2_ENST00000543033.1_Nonsense_Mutation_p.E727*|TAOK2_ENST00000279394.3_Nonsense_Mutation_p.E727*	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	727					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.E727*(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCGTGAGCAAGAGTTGCGGCA	0.677																																						uc002dva.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2179-2181)GAG>TAG		TAO kinase 2 isoform 2							55.0	58.0	57.0					16																	29997772		2195	4299	6494	SO:0001587	stop_gained	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997772G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2179G>T	16.37:g.29997772G>T	ENSP00000310094:p.Glu727*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Nonsense_Mutation_p.E727*|TAOK2_uc002dvc.1_Nonsense_Mutation_p.E727*|TAOK2_uc010bzm.1_Nonsense_Mutation_p.E734*|TAOK2_uc002dvd.1_Nonsense_Mutation_p.E554*	p.E727*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	2962	+			727					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Nonsense_Mutation	SNP	ENST00000308893.4	37	c.2179G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	48	14.485538	0.99797	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	.	.	.	5.52	5.52	0.82312	.	0.059461	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.209	0.89864	0.0:0.0:1.0:0.0	.	.	.	.	X	727	.	.	E	+	1	0	TAOK2	29905273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.610000	0.88304	0.563000	0.77884	GAG		PASS	0.677	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		7	56	7	56	---	---	---	---
STX1B	112755	broad.mit.edu	37	16	31008036	31008036	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:31008036C>G	ENST00000215095.5	-	7	736	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	STX1B_ENST00000565419.1_Missense_Mutation_p.E169Q	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	169					intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)	p.E169Q(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTCCCGCTCTCCAGCATGTCT	0.607																																						uc010cad.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GAG>CAG		syntaxin 1B							60.0	63.0	62.0					16																	31008036		2197	4300	6497	SO:0001583	missense	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	g.chr16:31008036C>G	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.505G>C	16.37:g.31008036C>G	ENSP00000215095:p.Glu169Gln					STX1B_uc010vfd.1_Missense_Mutation_p.E169Q	p.E169Q	NM_052874	NP_443106	P61266	STX1B_HUMAN			7	617	-			169			Cytoplasmic (Potential).		Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	c.505G>C	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514913	0.85389	.	.	ENSG00000099365	ENST00000215095	T	0.59502	0.26	4.69	4.69	0.59074	t-SNARE (1);	0.058652	0.64402	D	0.000003	T	0.60064	0.2240	M	0.78223	2.4	0.80722	D	1	P;B	0.37636	0.603;0.377	B;B	0.34931	0.192;0.091	T	0.69435	-0.5146	10	0.87932	D	0	.	16.5489	0.84458	0.0:1.0:0.0:0.0	.	169;169	Q2VPS2;P61266	.;STX1B_HUMAN	Q	169	ENSP00000215095:E169Q	ENSP00000215095:E169Q	E	-	1	0	STX1B	30915537	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.615000	0.83006	2.462000	0.83206	0.561000	0.74099	GAG		PASS	0.607	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			8	35	8	35	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49671724	49671724	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:49671724G>T	ENST00000561648.1	-	4	1392	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	ZNF423_ENST00000562520.1_Missense_Mutation_p.L387M|ZNF423_ENST00000562871.1_Missense_Mutation_p.L387M|ZNF423_ENST00000535559.1_Missense_Mutation_p.L330M|ZNF423_ENST00000567169.1_Missense_Mutation_p.L330M|ZNF423_ENST00000262383.2_Missense_Mutation_p.L447M|ZNF423_ENST00000563137.2_Missense_Mutation_p.L387M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	447					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L447M(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGGAGTCCAGGCAGATCTGA	0.562																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1339-1341)CTG>ATG		zinc finger protein 423							145.0	126.0	133.0					16																	49671724		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671724G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1339C>A	16.37:g.49671724G>T	ENSP00000455426:p.Leu447Met					ZNF423_uc010vgn.1_Missense_Mutation_p.L330M	p.L447M	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1637	-		all_cancers(37;0.0155)	447			C2H2-type 10.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1339C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297305	0.40694	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.28255	1.62;1.62	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.45856	0.1363	L	0.32530	0.975	0.36997	D	0.895093	D	0.89917	1.0	D	0.91635	0.999	T	0.45614	-0.9249	9	.	.	.	.	18.4335	0.90634	0.0:0.0:1.0:0.0	.	447	Q2M1K9	ZN423_HUMAN	M	447;330	ENSP00000262383:L447M;ENSP00000442321:L330M	.	L	-	1	2	ZNF423	48229225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.934000	0.48956	2.346000	0.79739	0.561000	0.74099	CTG		PASS	0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	55	5	55	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53272410	53272410	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:53272410G>T	ENST00000398510.3	+	11	2876	c.2789G>T	c.(2788-2790)tGg>tTg	p.W930L	CHD9_ENST00000447540.1_Missense_Mutation_p.W930L|CHD9_ENST00000564845.1_Missense_Mutation_p.W930L|CHD9_ENST00000566029.1_Missense_Mutation_p.W930L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	930	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.W930L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTTCGTACGTGGACTGATATT	0.403																																						uc002ehb.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(2788-2790)TGG>TTG		chromodomain helicase DNA binding protein 9							231.0	216.0	220.0					16																	53272410		1875	4107	5982	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53272410G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2789G>T	16.37:g.53272410G>T	ENSP00000381522:p.Trp930Leu					CHD9_uc002egy.2_Missense_Mutation_p.W930L|CHD9_uc002eha.1_Missense_Mutation_p.W930L|CHD9_uc002ehc.2_Missense_Mutation_p.W930L|CHD9_uc002ehf.2_Missense_Mutation_p.W44L|CHD9_uc002ehd.2_Missense_Mutation_p.W456L|CHD9_uc002ehe.1_Missense_Mutation_p.W44L	p.W930L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			11	2953	+		all_cancers(37;0.0212)	930			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2789G>T		.	.	.	.	.	.	.	.	.	.	G	28.3	4.912375	0.92178	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.93488	-3.23;-3.23	5.02	5.02	0.67125	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000051	D	0.97529	0.9191	M	0.93016	3.37	0.80722	D	1	B;P;D;D	0.69078	0.14;0.552;0.997;0.996	B;P;D;D	0.81914	0.424;0.525;0.995;0.991	D	0.98630	1.0671	10	0.87932	D	0	-4.5943	18.3513	0.90339	0.0:0.0:1.0:0.0	.	456;930;930;930	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	L	930;930;456	ENSP00000396345:W930L;ENSP00000381522:W930L	ENSP00000219084:W456L	W	+	2	0	CHD9	51829911	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.807000	0.99171	2.334000	0.79466	0.460000	0.39030	TGG		PASS	0.403	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		6	141	6	141	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67286512	67286512	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:67286512G>A	ENST00000299798.11	+	2	320	c.255G>A	c.(253-255)ctG>ctA	p.L85L	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	85					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.L85L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGCTGGGCCTGGTGCTAGGGG	0.522																																						uc002esm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(253-255)CTG>CTA		solute carrier family 9 (sodium/hydrogen							137.0	136.0	136.0					16																	67286512		2011	4176	6187	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67286512G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.255G>A	16.37:g.67286512G>A						SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	p.L85L	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	2	318	+		Ovarian(137;0.0563)	85			Helical; (Potential).		A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.255G>A	CCDS42178.1																																																																																				PASS	0.522	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			28	57	28	57	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67575630	67575630	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:67575630C>A	ENST00000379312.3	+	12	1158	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.S362Y|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.S356Y|FAM65A_ENST00000042381.4_Missense_Mutation_p.S342Y|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.S362Y	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	346						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S342Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AAGCGCTTCTCCACCTATAGC	0.592																																						uc010vjp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1084-1086)TCC>TAC		hypothetical protein LOC79567							106.0	104.0	105.0					16																	67575630		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67575630C>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1037C>A	16.37:g.67575630C>A	ENSP00000368614:p.Ser346Tyr					FAM65A_uc010cei.1_Missense_Mutation_p.S184Y|FAM65A_uc002eth.2_Missense_Mutation_p.S342Y|FAM65A_uc010cej.2_Missense_Mutation_p.S345Y|FAM65A_uc002eti.1_Missense_Mutation_p.S305Y|FAM65A_uc010vjq.1_Missense_Mutation_p.S356Y|FAM65A_uc002etj.1_Missense_Mutation_p.S341Y|FAM65A_uc002etk.2_Missense_Mutation_p.S341Y	p.S362Y	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	12	1181	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	346					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1085C>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699990	0.88924	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.02446	4.29;4.29;4.29	4.8	4.8	0.61643	.	0.116104	0.64402	D	0.000013	T	0.17280	0.0415	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.00797	-1.1562	10	0.87932	D	0	-20.5625	17.8565	0.88765	0.0:1.0:0.0:0.0	.	356;362;346;362	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	Y	346;342;362;356	ENSP00000368614:S346Y;ENSP00000042381:S342Y;ENSP00000400099:S362Y	ENSP00000042381:S342Y	S	+	2	0	FAM65A	66133131	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.998000	0.70653	2.212000	0.71576	0.561000	0.74099	TCC		PASS	0.592	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		5	50	5	50	---	---	---	---
ADAT1	23536	broad.mit.edu	37	16	75637051	75637051	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:75637051C>A	ENST00000307921.3	-	10	1453	c.1308G>T	c.(1306-1308)gtG>gtT	p.V436V	ADAT1_ENST00000568478.1_5'Flank|RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	436	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.V436V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TGAAGAGTTCCACTTTGCTGA	0.413																																						uc002feo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1306-1308)GTG>GTT		adenosine deaminase, tRNA-specific 1							272.0	257.0	262.0					16																	75637051		2198	4300	6498	SO:0001819	synonymous_variant	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75637051C>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1308G>T	16.37:g.75637051C>A						ADAT1_uc002fep.1_Silent_p.V287V	p.V436V	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			10	1410	-			436			A to I editase.		Q9NVB7|Q9UNG3	Silent	SNP	ENST00000307921.3	37	c.1308G>T	CCDS10922.1																																																																																				PASS	0.413	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		8	212	8	212	---	---	---	---
DPEP1	1800	broad.mit.edu	37	16	89702987	89702987	+	Silent	SNP	C	C	T	rs150009384	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr16:89702987C>T	ENST00000393092.3	+	5	708	c.417C>T	c.(415-417)ggC>ggT	p.G139G	DPEP1_ENST00000261615.4_Silent_p.G139G|DPEP1_ENST00000421184.1_Silent_p.G139G	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	139					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.G139G(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCCTGATCGGCGTGGAGGGCG	0.657																																						uc010cin.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(415-417)GGC>GGT		dipeptidase 1 precursor	Cilastatin(DB01597)		,	0,4376		0,0,2188	63.0	58.0	60.0		417,417	-7.5	0.2	16	dbSNP_134	60	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous,coding-synonymous	DPEP1	NM_001128141.1,NM_004413.3	,	0,3,6480	TT,TC,CC		0.0349,0.0,0.0231	,	139/412,139/412	89702987	3,12963	2188	4295	6483	SO:0001819	synonymous_variant	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702987C>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.417C>T	16.37:g.89702987C>T						DPEP1_uc002fnr.3_Silent_p.G139G|DPEP1_uc002fns.3_Silent_p.G139G	p.G139G	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	5	620	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	139					D3DX80|Q96AK2	Silent	SNP	ENST00000393092.3	37	c.417C>T	CCDS10982.1																																																																																				PASS	0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		6	11	6	11	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27026896	27026896	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:27026896C>A	ENST00000314616.6	+	33	4829	c.4546C>A	c.(4546-4548)Cag>Aag	p.Q1516K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.Q1516K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1516					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1516K(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGATCACTACCAGGATCCTGT	0.527																																						uc002hby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4546-4548)CAG>AAG		suppressor of Ty 6 homolog							151.0	141.0	144.0					17																	27026896		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27026896C>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4546C>A	17.37:g.27026896C>A	ENSP00000319104:p.Gln1516Lys					SUPT6H_uc010crt.2_Missense_Mutation_p.Q1516K	p.Q1516K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			33	4636	+	Lung NSC(42;0.00431)		1516					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.4546C>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419829	0.42918	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.14	5.14	0.70334	.	0.055925	0.64402	D	0.000001	T	0.41050	0.1142	N	0.12182	0.205	0.80722	D	1	B	0.18610	0.029	B	0.18263	0.021	T	0.25363	-1.0134	9	0.15952	T	0.53	-16.6471	18.6095	0.91279	0.0:1.0:0.0:0.0	.	1516	Q7KZ85	SPT6H_HUMAN	K	1516	.	ENSP00000319104:Q1516K	Q	+	1	0	SUPT6H	24051023	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.471000	0.80985	2.414000	0.81942	0.462000	0.41574	CAG		PASS	0.527	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		6	114	6	114	---	---	---	---
KRTAP1-3	81850	broad.mit.edu	37	17	39190915	39190915	+	Silent	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:39190915A>G	ENST00000344363.5	-	1	192	c.159T>C	c.(157-159)agT>agC	p.S53S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	63			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.S53S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCAGGTCCCACTAGTTGAGA	0.627																																						uc002hvv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)AGT>AGC		keratin associated protein 1-3							51.0	55.0	53.0					17																	39190915		1962	4159	6121	SO:0001819	synonymous_variant	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190915A>G	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.159T>C	17.37:g.39190915A>G							p.S53S	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	193	-		Breast(137;0.000496)	63	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1).	Missing (in allele KAP1.9).			Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	c.159T>C	CCDS42323.1																																																																																				PASS	0.627	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			16	28	16	28	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46135698	46135698	+	Silent	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:46135698T>C	ENST00000362042.3	+	6	1630	c.1014T>C	c.(1012-1014)agT>agC	p.S338S	NFE2L1_ENST00000583378.1_Silent_p.S139S|NFE2L1_ENST00000582155.1_Silent_p.S150S|NFE2L1_ENST00000536222.1_Silent_p.S182S|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_Silent_p.S327S|NFE2L1_ENST00000585291.1_Silent_p.S308S|NFE2L1_ENST00000357480.5_Silent_p.S308S	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	338					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)	p.S338S(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCTGTACAGTGCCCCTCCTG	0.582																																						uc002imz.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1012-1014)AGT>AGC		nuclear factor erythroid 2-like 1							158.0	136.0	143.0					17																	46135698		2203	4300	6503	SO:0001819	synonymous_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46135698T>C	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1014T>C	17.37:g.46135698T>C						NFE2L1_uc002ina.3_Silent_p.S308S|NFE2L1_uc002inb.3_Silent_p.S308S|NFE2L1_uc010wle.1_Silent_p.S150S|NFE2L1_uc010wlf.1_Silent_p.S182S	p.S338S	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			6	1665	+			338					D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	c.1014T>C	CCDS11524.1																																																																																				PASS	0.582	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		19	56	19	56	---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46847099	46847099	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:46847099T>C	ENST00000393382.3	-	14	2542	c.2401A>G	c.(2401-2403)Aac>Gac	p.N801D	TTLL6_ENST00000433608.2_Missense_Mutation_p.N494D	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6									p.N479D(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CGTGACAGGTTATTCATCCCC	0.522																																						uc010wlo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2401-2403)AAC>GAC		tubulin tyrosine ligase-like family, member 6							111.0	102.0	105.0					17																	46847099		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847099T>C	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2401A>G	17.37:g.46847099T>C	ENSP00000377043:p.Asn801Asp					TTLL6_uc002iob.2_Missense_Mutation_p.N494D|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Missense_Mutation_p.N554D|TTLL6_uc002iod.2_Intron	p.N801D	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			15	2436	-			753						Missense_Mutation	SNP	ENST00000393382.3	37	c.2401A>G	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	T	7.791	0.711537	0.15306	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.25	-5.19	0.02832	.	.	.	.	.	T	0.21103	0.0508	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.18681	-1.0329	8	0.27082	T	0.32	.	5.811	0.18465	0.0:0.3094:0.4293:0.2613	.	753;494	Q8N841;G5E937	TTLL6_HUMAN;.	D	801;494;479;753	.	ENSP00000302547:N494D	N	-	1	0	TTLL6	44202098	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.840000	0.04363	-1.105000	0.03011	-0.316000	0.08728	AAC		PASS	0.522	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		13	52	13	52	---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47583905	47583905	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:47583905C>T	ENST00000172229.3	+	3	578	c.453C>T	c.(451-453)gaC>gaT	p.D151D	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.D57D	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	151					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.D151D(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					AGTGCCCCGACGGCACGTATT	0.711																																						uc002ioz.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(451-453)GAC>GAT		nerve growth factor receptor precursor							37.0	27.0	31.0					17																	47583905		2194	4285	6479	SO:0001819	synonymous_variant	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583905C>T	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.453C>T	17.37:g.47583905C>T							p.D151D	NM_002507	NP_002498	P08138	TNR16_HUMAN			3	578	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		151			Extracellular (Potential).|TNFR-Cys 4.		B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.453C>T	CCDS11549.1																																																																																				PASS	0.711	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			10	17	10	17	---	---	---	---
MBTD1	54799	broad.mit.edu	37	17	49281158	49281158	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:49281158G>T	ENST00000586178.1	-	8	1076	c.733C>A	c.(733-735)Cct>Act	p.P245T	MBTD1_ENST00000415868.1_Missense_Mutation_p.P245T|MBTD1_ENST00000376381.2_Missense_Mutation_p.P245T	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	245					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P81T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTACTTCTAGGAGGAACAAGA	0.348																																						uc002itr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(733-735)CCT>ACT		mbt domain containing 1							106.0	107.0	107.0					17																	49281158		2203	4300	6503	SO:0001583	missense	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49281158G>T	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.733C>A	17.37:g.49281158G>T	ENSP00000468304:p.Pro245Thr					MBTD1_uc002itp.3_Missense_Mutation_p.P81T|MBTD1_uc002itq.3_Missense_Mutation_p.P245T	p.P245T	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		8	1077	-			245			MBT 1.		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.733C>A	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	g	23.1	4.370309	0.82573	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	D;D	0.81996	-1.56;-1.56	4.84	4.84	0.62591	.	0.050576	0.85682	D	0.000000	D	0.93517	0.7931	M	0.93763	3.455	0.80722	D	1	D;B;D	0.76494	0.999;0.397;0.98	D;B;D	0.87578	0.998;0.335;0.97	D	0.95309	0.8410	10	0.87932	D	0	.	18.0781	0.89433	0.0:0.0:1.0:0.0	.	245;245;81	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	T	245	ENSP00000403946:P245T;ENSP00000365561:P245T	ENSP00000365561:P245T	P	-	1	0	MBTD1	46636157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.756000	0.98918	2.258000	0.74832	0.627000	0.83407	CCT		PASS	0.348	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			6	138	6	138	---	---	---	---
BRIP1	83990	broad.mit.edu	37	17	59821886	59821886	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:59821886T>C	ENST00000259008.2	-	15	2431	c.2164A>G	c.(2164-2166)Aca>Gca	p.T722A	BRIP1_ENST00000577598.1_Missense_Mutation_p.T722A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	722					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T722A(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACAATGACTGTCTTCACCAAC	0.353			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2164-2166)ACA>GCA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							159.0	160.0	160.0					17																	59821886		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59821886T>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2164A>G	17.37:g.59821886T>C	ENSP00000259008:p.Thr722Ala					BRIP1_uc002izl.1_Missense_Mutation_p.T103A	p.T722A	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			15	2305	-			722					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2164A>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678618	0.47886	.	.	ENSG00000136492	ENST00000259008	D	0.91521	-2.86	5.67	5.67	0.87782	Helicase, ATP-dependent, c2 type (1);	0.169714	0.50627	D	0.000107	D	0.91294	0.7255	N	0.25060	0.705	0.54753	D	0.999989	P;D	0.89917	0.807;1.0	P;D	0.87578	0.625;0.998	D	0.90627	0.4564	9	.	.	.	-16.6927	15.086	0.72155	0.0:0.0:0.0:1.0	.	722;722	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	A	722	ENSP00000259008:T722A	.	T	-	1	0	BRIP1	57176668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.588000	0.60999	2.149000	0.67028	0.377000	0.23210	ACA		PASS	0.353	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		26	92	26	92	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60813646	60813646	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:60813646T>C	ENST00000311269.5	-	6	1857	c.1583A>G	c.(1582-1584)cAt>cGt	p.H528R	RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.H527R|MARCH10_ENST00000583600.1_Missense_Mutation_p.H566R|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.H528R	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	528					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H528R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GAAATAATTATGGTTTTCGGC	0.453																																						uc010ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1582-1584)CAT>CGT		ring finger protein 190							85.0	89.0	88.0					17																	60813646		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60813646T>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1583A>G	17.37:g.60813646T>C	ENSP00000311496:p.His528Arg					MARCH10_uc002jag.3_Missense_Mutation_p.H528R|MARCH10_uc010dds.2_Missense_Mutation_p.H566R|MARCH10_uc002jah.2_Missense_Mutation_p.H527R|uc002jaj.1_RNA|uc002jak.2_RNA	p.H528R	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	1821	-			528					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.1583A>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	T	4.800	0.148702	0.09134	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.11821	2.74;2.74;2.74	5.25	1.65	0.23941	.	0.663255	0.14680	N	0.304782	T	0.09247	0.0228	L	0.48362	1.52	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.006	B;B;B	0.11329	0.003;0.006;0.003	T	0.44544	-0.9321	10	0.06757	T	0.87	3.0E-4	4.8454	0.13510	0.0:0.172:0.1579:0.6701	.	527;527;528	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	R	528;528;527	ENSP00000416177:H528R;ENSP00000311496:H528R;ENSP00000443746:H527R	ENSP00000311496:H528R	H	-	2	0	MARCH10	58167378	0.029000	0.19370	0.001000	0.08648	0.275000	0.26752	0.535000	0.23114	0.045000	0.15804	0.459000	0.35465	CAT		PASS	0.453	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		14	57	14	57	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78282825	78282825	+	Nonsense_Mutation	SNP	G	G	T	rs377041958		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:78282825G>T	ENST00000582970.1	+	14	2652	c.2509G>T	c.(2509-2511)Gag>Tag	p.E837*	RNF213_ENST00000456466.1_Nonsense_Mutation_p.E837*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.E886*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.E837*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	837					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E837*(4)|p.E886*(2)|p.E837K(2)|p.E886K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGGATTCCCGAGGAGGCCTT	0.478																																						uc002jyf.2																			9	Substitution - Nonsense(6)|Substitution - Missense(3)		lung(9)								c.(2509-2511)GAG>TAG		hypothetical protein LOC57714							116.0	111.0	113.0					17																	78282825		2203	4300	6503	SO:0001587	stop_gained	0							g.chr17:78282825G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2509G>T	17.37:g.78282825G>T	ENSP00000464087:p.Glu837*					uc002jyg.1_Nonsense_Mutation_p.E568*	p.E837*	NM_020954	NP_066005					14	2652	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.2509G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620083	0.97709	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.96	-4.46	0.03536	.	0.905605	0.09401	N	0.807232	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-18.0606	10.3441	0.43895	0.1624:0.6357:0.2019:0.0	.	.	.	.	X	837;886;837;837	.	ENSP00000324392:E837X	E	+	1	0	RNF213	75897420	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.171000	0.09883	-0.464000	0.06963	-0.885000	0.02943	GAG		PASS	0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	95	5	95	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78348267	78348267	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:78348267C>A	ENST00000582970.1	+	50	13095	c.12952C>A	c.(12952-12954)Cag>Aag	p.Q4318K	RNF213_ENST00000336301.6_Missense_Mutation_p.Q2391K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.Q4367K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4318					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q4367K(1)|p.Q2391K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCTGCGGCAGGACCACCC	0.552																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(7171-7173)CAG>AAG		ring finger protein 213							99.0	92.0	95.0					17																	78348267		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78348267C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12952C>A	17.37:g.78348267C>A	ENSP00000464087:p.Gln4318Lys					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Q773K	p.Q2391K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		25	7394	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7171C>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427233	0.11987	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.20881	2.04	4.79	-8.38	0.00973	.	0.895768	0.09876	N	0.744296	T	0.04815	0.0130	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44636	-0.9315	10	0.21014	T	0.42	.	8.9533	0.35803	0.5966:0.2186:0.1848:0.0	.	4367;2391	C9JCP4;Q63HN8	.;RN213_HUMAN	K	4318;4367;2391	ENSP00000338218:Q2391K	ENSP00000338218:Q2391K	Q	+	1	0	RNF213	75962862	0.009000	0.17119	0.003000	0.11579	0.555000	0.35460	-0.284000	0.08422	-1.423000	0.02002	-0.364000	0.07487	CAG		PASS	0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		7	24	7	24	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78355400	78355400	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:78355400G>A	ENST00000582970.1	+	57	13994	c.13851G>A	c.(13849-13851)caG>caA	p.Q4617Q	RNF213_ENST00000336301.6_Silent_p.Q2690Q|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.Q4666Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4617					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q4666Q(1)|p.Q2690Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTTCTGCAGCAGCACATCC	0.572																																						uc002jyh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(8068-8070)CAG>CAA		ring finger protein 213							105.0	89.0	95.0					17																	78355400		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78355400G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13851G>A	17.37:g.78355400G>A						uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.Q1072Q	p.Q2690Q	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		32	8293	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.8070G>A	CCDS58606.1																																																																																				PASS	0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	46	21	46	---	---	---	---
RAB12	201475	broad.mit.edu	37	18	8609907	8609907	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:8609907G>A	ENST00000329286.6	+	1	465	c.182G>A	c.(181-183)cGc>cAc	p.R61H		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	61					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.R61H(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						CTGATGGAGCGCTTCACCGAC	0.706																																						uc002knp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CGC>CAC		RAB12, member RAS oncogene family							17.0	22.0	20.0					18																	8609907		1994	4197	6191	SO:0001583	missense	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8609907G>A		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.182G>A	18.37:g.8609907G>A	ENSP00000331748:p.Arg61His					RAB12_uc002kno.1_Missense_Mutation_p.R157H	p.R61H	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN			1	465	+			61					A6NEF5|Q4KMQ3	Missense_Mutation	SNP	ENST00000329286.6	37	c.182G>A	CCDS42410.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631962	0.96682	.	.	ENSG00000206418	ENST00000329286	D	0.82619	-1.63	4.23	3.34	0.38264	Small GTP-binding protein domain (1);	0.072732	0.47852	U	0.000217	D	0.89371	0.6696	M	0.93462	3.42	0.58432	D	0.999992	D	0.63880	0.993	P	0.51516	0.672	D	0.91609	0.5301	10	0.87932	D	0	.	11.3333	0.49490	0.0902:0.0:0.9098:0.0	.	61	Q6IQ22	RAB12_HUMAN	H	61	ENSP00000331748:R61H	ENSP00000331748:R61H	R	+	2	0	RAB12	8599907	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.887000	0.75616	1.903000	0.55091	0.430000	0.28490	CGC		PASS	0.706	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		4	10	4	10	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323263	31323263	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:31323263A>G	ENST00000269197.5	+	12	3451	c.3451A>G	c.(3451-3453)Aaa>Gaa	p.K1151E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1151					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.K1151E(1)|p.K858E(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCCTGAAACAAAAATGGAAGG	0.502																																						uc010dmg.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3451-3453)AAA>GAA		additional sex combs like 3							40.0	40.0	40.0					18																	31323263		1876	4107	5983	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323263A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3451A>G	18.37:g.31323263A>G	ENSP00000269197:p.Lys1151Glu					ASXL3_uc002kxq.2_Missense_Mutation_p.K858E	p.K1151E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3506	+			1151					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3451A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070831	0.76301	.	.	ENSG00000141431	ENST00000269197	T	0.53423	0.62	5.91	5.91	0.95273	.	0.859023	0.10346	N	0.685717	T	0.64821	0.2633	L	0.44542	1.39	0.42502	D	0.992934	D	0.76494	0.999	D	0.80764	0.994	T	0.59910	-0.7365	10	0.62326	D	0.03	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1151	Q9C0F0	ASXL3_HUMAN	E	1151	ENSP00000269197:K1151E	ENSP00000269197:K1151E	K	+	1	0	ASXL3	29577261	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	5.474000	0.66781	2.261000	0.74972	0.533000	0.62120	AAA		PASS	0.502	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			7	21	7	21	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31325671	31325671	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:31325671G>T	ENST00000269197.5	+	12	5859	c.5859G>T	c.(5857-5859)aaG>aaT	p.K1953N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1953					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.K1953N(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTCTTCCAAGACCCCAGTGG	0.527																																						uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(5857-5859)AAG>AAT		additional sex combs like 3							70.0	70.0	70.0					18																	31325671		1902	4110	6012	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325671G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5859G>T	18.37:g.31325671G>T	ENSP00000269197:p.Lys1953Asn					ASXL3_uc002kxq.2_Missense_Mutation_p.K1660N	p.K1953N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5914	+			1953					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5859G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455656	0.43634	.	.	ENSG00000141431	ENST00000269197	T	0.18960	2.18	5.5	4.62	0.57501	.	.	.	.	.	T	0.29716	0.0742	L	0.27053	0.805	0.37601	D	0.920561	D	0.71674	0.998	D	0.78314	0.991	T	0.17167	-1.0378	9	0.51188	T	0.08	.	8.9896	0.36014	0.2379:0.0:0.7621:0.0	.	1953	Q9C0F0	ASXL3_HUMAN	N	1953	ENSP00000269197:K1953N	ENSP00000269197:K1953N	K	+	3	2	ASXL3	29579669	0.997000	0.39634	0.954000	0.39281	0.913000	0.54294	2.556000	0.45862	1.303000	0.44873	0.591000	0.81541	AAG		PASS	0.527	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			11	61	11	61	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31325735	31325735	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:31325735G>C	ENST00000269197.5	+	12	5923	c.5923G>C	c.(5923-5925)Gtt>Ctt	p.V1975L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1975					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.V1975L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTGGGAGAGGTTAGTCTTTC	0.507																																						uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(5923-5925)GTT>CTT		additional sex combs like 3							130.0	132.0	131.0					18																	31325735		2042	4179	6221	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325735G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5923G>C	18.37:g.31325735G>C	ENSP00000269197:p.Val1975Leu					ASXL3_uc002kxq.2_Missense_Mutation_p.V1682L	p.V1975L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5978	+			1975					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5923G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	8.778	0.927565	0.18056	.	.	ENSG00000141431	ENST00000269197	T	0.15487	2.42	5.5	5.5	0.81552	.	.	.	.	.	T	0.10594	0.0259	N	0.19112	0.55	0.19775	N	0.999952	B	0.14438	0.01	B	0.15870	0.014	T	0.30001	-0.9993	9	0.13470	T	0.59	.	9.3423	0.38087	0.1996:0.0:0.8004:0.0	.	1975	Q9C0F0	ASXL3_HUMAN	L	1975	ENSP00000269197:V1975L	ENSP00000269197:V1975L	V	+	1	0	ASXL3	29579733	1.000000	0.71417	0.723000	0.30687	0.643000	0.38383	3.539000	0.53604	2.571000	0.86741	0.591000	0.81541	GTT		PASS	0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			16	89	16	89	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43469849	43469849	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:43469849C>A	ENST00000282041.5	-	28	4900	c.4866G>T	c.(4864-4866)aaG>aaT	p.K1622N	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1622					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.K1622N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCTTCACTTCCTTCCGTAAAA	0.398																																						uc002lbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4864-4866)AAG>AAT		hypothetical protein LOC57724							136.0	125.0	129.0					18																	43469849		1879	4113	5992	SO:0001583	missense	57724				autophagy			g.chr18:43469849C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4866G>T	18.37:g.43469849C>A	ENSP00000282041:p.Lys1622Asn					KIAA1632_uc010xcq.1_Missense_Mutation_p.K176N|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K497N	p.K1622N	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			28	4966	-			1622			Potential.		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4866G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322146	0.23994	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10573	2.86	6.02	2.38	0.29361	.	.	.	.	.	T	0.12987	0.0315	L	0.43152	1.355	0.40597	D	0.981542	P	0.52316	0.952	P	0.49085	0.6	T	0.07616	-1.0763	9	0.29301	T	0.29	-15.0301	9.9111	0.41406	0.0:0.2582:0.0:0.7418	.	1622	Q9HCE0	EPG5_HUMAN	N	1622;497	ENSP00000282041:K1622N	ENSP00000282041:K1622N	K	-	3	2	EPG5	41723847	1.000000	0.71417	0.994000	0.49952	0.087000	0.18053	1.126000	0.31344	0.190000	0.20209	-0.937000	0.02696	AAG		PASS	0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		7	69	7	69	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54424511	54424511	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:54424511C>G	ENST00000254442.3	+	15	2898	c.2687C>G	c.(2686-2688)tCt>tGt	p.S896C	WDR7_ENST00000357574.3_Missense_Mutation_p.S896C|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	896					hematopoietic progenitor cell differentiation (GO:0002244)			p.S896C(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCTATCATTTCTTTGGCAAAT	0.443																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2686-2688)TCT>TGT		rabconnectin-3 beta isoform 1							99.0	91.0	94.0					18																	54424511		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54424511C>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2687C>G	18.37:g.54424511C>G	ENSP00000254442:p.Ser896Cys					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S896C	p.S896C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2898	+			896					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2687C>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371810	0.82573	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.71934	-0.61;0.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	L	0.38838	1.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.989;0.99	T	0.80457	-0.1374	10	0.72032	D	0.01	.	19.797	0.96490	0.0:1.0:0.0:0.0	.	896;896	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	C	896;896;221;896	ENSP00000254442:S896C;ENSP00000350187:S896C	ENSP00000254442:S896C	S	+	2	0	WDR7	52575509	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.356000	0.79445	2.776000	0.95493	0.655000	0.94253	TCT		PASS	0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			22	44	22	44	---	---	---	---
CCBE1	147372	broad.mit.edu	37	18	57103145	57103145	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:57103145G>T	ENST00000439986.4	-	11	1253	c.1216C>A	c.(1216-1218)Cca>Aca	p.P406T	CCBE1_ENST00000398179.2_Missense_Mutation_p.P135T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	406					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.P406T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGTGCTATGGGTAGAAGTCT	0.493																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1216-1218)CCA>ACA		collagen and calcium binding EGF domains 1							201.0	210.0	207.0					18																	57103145		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57103145G>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1216C>A	18.37:g.57103145G>T	ENSP00000404464:p.Pro406Thr					CCBE1_uc010dpq.2_Missense_Mutation_p.P135T|CCBE1_uc002lia.2_Missense_Mutation_p.P259T	p.P406T	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			11	1286	-		Colorectal(73;0.175)	406					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.1216C>A	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520116	0.44866	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	D;T	0.86164	-2.08;1.17	5.7	5.7	0.88788	.	0.251425	0.39475	N	0.001360	D	0.92251	0.7542	M	0.61703	1.905	0.37368	D	0.91149	D;D;D	0.89917	1.0;0.991;0.999	D;P;D	0.87578	0.998;0.831;0.935	D	0.93905	0.7192	10	0.87932	D	0	.	15.3431	0.74314	0.0:0.0:1.0:0.0	.	135;406;215	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	T	406;135	ENSP00000404464:P406T;ENSP00000381241:P135T	ENSP00000381241:P135T	P	-	1	0	CCBE1	55254125	.	.	0.498000	0.27564	0.050000	0.14768	.	.	2.679000	0.91253	0.655000	0.94253	CCA		PASS	0.493	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		10	218	10	218	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64172361	64172361	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:64172361C>G	ENST00000262150.2	-	12	2299	c.2007G>C	c.(2005-2007)aaG>aaC	p.K669N	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {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.K669N(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTTCCGAGTCTTGCGTTCCC	0.463																																						uc002lkc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2005-2007)AAG>AAC		cadherin 19, type 2 preproprotein							186.0	175.0	178.0					18																	64172361		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172361C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2007G>C	18.37:g.64172361C>G	ENSP00000262150:p.Lys669Asn					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	p.K669N	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			12	2145	-		Esophageal squamous(42;0.0132)	669			Cytoplasmic (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.2007G>C	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	8.693	0.907933	0.17833	.	.	ENSG00000071991	ENST00000262150	T	0.77877	-1.13	5.18	3.37	0.38596	Cadherin, cytoplasmic domain (1);	0.698991	0.14696	N	0.303870	T	0.80121	0.4565	M	0.76002	2.32	0.21147	N	0.999779	P	0.49253	0.921	P	0.49421	0.61	T	0.68573	-0.5373	10	0.40728	T	0.16	.	8.8064	0.34941	0.0:0.708:0.0:0.292	.	669	Q9H159	CAD19_HUMAN	N	669	ENSP00000262150:K669N	ENSP00000262150:K669N	K	-	3	2	CDH19	62323341	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.782000	0.26788	0.655000	0.30866	0.650000	0.86243	AAG		PASS	0.463	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		11	93	11	93	---	---	---	---
CBLN2	147381	broad.mit.edu	37	18	70205487	70205487	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr18:70205487A>G	ENST00000269503.4	-	5	1372	c.599T>C	c.(598-600)cTc>cCc	p.L200P	CBLN2_ENST00000584764.1_Missense_Mutation_p.L84P|CBLN2_ENST00000585159.1_Missense_Mutation_p.L200P|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.L86P	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	200	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)		p.L200P(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTCAAGTTTGAGATGCACTTT	0.527																																						uc002lku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)CTC>CCC		cerebellin 2 precursor							118.0	112.0	114.0					18																	70205487		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205487A>G	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.599T>C	18.37:g.70205487A>G	ENSP00000269503:p.Leu200Pro					CBLN2_uc002lkv.2_Missense_Mutation_p.L200P	p.L200P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			4	834	-		Esophageal squamous(42;0.131)	200			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.599T>C	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400420	0.42613	.	.	ENSG00000141668	ENST00000269503	T	0.80994	-1.44	5.52	5.52	0.82312	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93851	0.7145	10	0.87932	D	0	-23.4638	15.938	0.79729	1.0:0.0:0.0:0.0	.	200	Q8IUK8	CBLN2_HUMAN	P	200	ENSP00000269503:L200P	ENSP00000269503:L200P	L	-	2	0	CBLN2	68356467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.279000	0.95777	2.222000	0.72286	0.533000	0.62120	CTC		PASS	0.527	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		14	50	14	50	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1058728	1058728	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:1058728G>T	ENST00000263094.6	+	38	5492	c.5261G>T	c.(5260-5262)cGa>cTa	p.R1754L	ABCA7_ENST00000435683.2_Missense_Mutation_p.R1616L|ABCA7_ENST00000433129.1_Missense_Mutation_p.R1754L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1754					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R1754L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CTGCAGCACCGAAGCCAACTC	0.587																																						uc002lqw.3																			1	Substitution - Missense(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(5260-5262)CGA>CTA		ATP-binding cassette, sub-family A, member 7							77.0	80.0	79.0					19																	1058728		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058728G>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5261G>T	19.37:g.1058728G>T	ENSP00000263094:p.Arg1754Leu					ABCA7_uc002lqy.2_Missense_Mutation_p.R207L|ABCA7_uc010dsc.2_RNA	p.R1754L	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	38	5492	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1754					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.5261G>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879109	0.33162	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88124	-2.34;-2.34	4.23	3.11	0.35812	.	.	.	.	.	D	0.83876	0.5349	L	0.29908	0.895	0.30865	N	0.733133	P;B	0.39071	0.658;0.066	P;B	0.47044	0.535;0.021	T	0.80607	-0.1307	9	0.40728	T	0.16	.	10.4017	0.44233	0.1054:0.0:0.8946:0.0	.	879;1754	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	L	1754	ENSP00000263094:R1754L;ENSP00000414062:R1754L	ENSP00000263094:R1754L	R	+	2	0	ABCA7	1009728	0.011000	0.17503	0.256000	0.24389	0.049000	0.14656	1.247000	0.32815	0.876000	0.35872	0.561000	0.74099	CGA		PASS	0.587	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	47	4	47	---	---	---	---
XAB2	56949	broad.mit.edu	37	19	7688675	7688675	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:7688675G>A	ENST00000358368.4	-	8	1098	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L	XAB2_ENST00000534844.1_Missense_Mutation_p.P351L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	354					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P351L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CACGTGGTGTGGGTTTTGGCG	0.667								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)|skin(1)	4						c.(1060-1062)CCA>CTA	Direct_reversal_of_damage|NER	XPA binding protein 2							55.0	55.0	55.0					19																	7688675		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7688675G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1061C>T	19.37:g.7688675G>A	ENSP00000351137:p.Pro354Leu						p.P354L	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			8	1087	-			354					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1061C>T	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326676	0.95708	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.32988	1.43;1.43	4.89	4.89	0.63831	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.65533	0.2700	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75983	-0.3125	10	0.87932	D	0	-38.3335	14.9645	0.71182	0.0:0.0:1.0:0.0	.	354	Q9HCS7	SYF1_HUMAN	L	354;351	ENSP00000351137:P354L;ENSP00000438225:P351L	ENSP00000351137:P354L	P	-	2	0	XAB2	7594675	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.292000	0.96076	2.264000	0.75181	0.591000	0.81541	CCA		PASS	0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		4	13	4	13	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8201158	8201158	+	Missense_Mutation	SNP	C	C	A	rs202142178		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:8201158C>A	ENST00000600128.1	-	12	1795	c.1381G>T	c.(1381-1383)Ggt>Tgt	p.G461C	FBN3_ENST00000270509.2_Missense_Mutation_p.G461C|FBN3_ENST00000601739.1_Missense_Mutation_p.G461C			Q75N90	FBN3_HUMAN	fibrillin 3	461	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G461C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACGCAGTCACCGTGGTGGCAG	0.667																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(1381-1383)GGT>TGT		fibrillin 3 precursor							69.0	58.0	62.0					19																	8201158		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201158C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1381G>T	19.37:g.8201158C>A	ENSP00000470498:p.Gly461Cys						p.G461C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			11	1402	-			461			EGF-like 4; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1381G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	15.53	2.860792	0.51482	.	.	ENSG00000142449	ENST00000270509	D	0.96232	-3.95	3.96	3.96	0.45880	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.98858	0.9614	H	0.97852	4.09	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99628	1.0985	10	0.87932	D	0	.	16.0162	0.80441	0.0:1.0:0.0:0.0	.	461	Q75N90	FBN3_HUMAN	C	461	ENSP00000270509:G461C	ENSP00000270509:G461C	G	-	1	0	FBN3	8107158	1.000000	0.71417	0.164000	0.22755	0.069000	0.16628	6.882000	0.75589	1.759000	0.51996	0.561000	0.74099	GGT		PASS	0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		8	12	8	12	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9059671	9059671	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:9059671G>T	ENST00000397910.4	-	3	27978	c.27775C>A	c.(27775-27777)Ccc>Acc	p.P9259T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9261	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P9259T(1)|p.P4892T(1)|p.P9259N(1)|p.P4892N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCCTGTGGGGTAGGTGATA	0.468																																						uc002mkp.2																			4	Substitution - Missense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27775-27777)CCC>ACC		mucin 16							95.0	96.0	96.0					19																	9059671		2068	4218	6286	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059671G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27775C>A	19.37:g.9059671G>T	ENSP00000381008:p.Pro9259Thr						p.P9259T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27979	-			9261			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27775C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.132	-0.652139	0.03506	.	.	ENSG00000181143	ENST00000397910	T	0.18960	2.18	2.24	-4.49	0.03504	.	.	.	.	.	T	0.08403	0.0209	N	0.03608	-0.345	.	.	.	B	0.20052	0.041	B	0.23574	0.047	T	0.33497	-0.9866	8	0.87932	D	0	.	6.4575	0.21938	0.0:0.2374:0.5621:0.2005	.	9259	B5ME49	.	T	9259	ENSP00000381008:P9259T	ENSP00000381008:P9259T	P	-	1	0	MUC16	8920671	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.403000	0.00483	-2.609000	0.00446	0.306000	0.20318	CCC		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	80	6	80	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9070727	9070727	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:9070727C>T	ENST00000397910.4	-	3	16922	c.16719G>A	c.(16717-16719)ggG>ggA	p.G5573G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5575	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G5573G(2)|p.G1206G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGTAGCCCCAGGAGTAG	0.512																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16717-16719)GGG>GGA		mucin 16							239.0	221.0	227.0					19																	9070727		2027	4179	6206	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070727C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16719G>A	19.37:g.9070727C>T							p.G5573G	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16923	-			5575			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.16719G>A	CCDS54212.1																																																																																				PASS	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	156	13	156	---	---	---	---
USE1	55850	broad.mit.edu	37	19	17327016	17327017	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:17327016_17327017GG>TT	ENST00000263897.5	+	4	317_318	c.270_271GG>TT	c.(268-273)ctGGcc>ctTTcc	p.A91S	USE1_ENST00000445667.2_Missense_Mutation_p.A91S|USE1_ENST00000379776.4_Missense_Mutation_p.A91S|USE1_ENST00000595101.1_Missense_Mutation_p.A91S|USE1_ENST00000596136.1_Missense_Mutation_p.A91S	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	91					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A91S(2)|p.L90L(1)		breast(2)|endometrium(1)|lung(3)	6						ACCAGTTCCTGGCCCCTGGCCG	0.614																																						uc002nfo.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(268-270)CTG>CTT|c.(271-273)GCC>TCC		unconventional SNARE in the ER 1 homolog																																				SO:0001583	missense	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17327016G>T|g.chr19:17327017G>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		Exception_encountered	19.37:g.17327016_17327017delinsTT	ENSP00000263897:p.Ala91Ser					USE1_uc002nfn.2_Silent_p.L90L|USE1_uc010eal.1_Silent_p.L90L|USE1_uc002nfn.2_Missense_Mutation_p.A91S|USE1_uc010eal.1_Missense_Mutation_p.A91S	p.L90L|p.A91S	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			4	330|331	+			90|91			Cytoplasmic (Potential).		Q8NCK1|Q9BRT4	Silent|Missense_Mutation	SNP	ENST00000263897.5	37	c.270G>T|c.271G>T	CCDS46011.1																																																																																				PASS	0.614	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		11|12	24	11	24	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940797	22940797	+	Silent	SNP	T	T	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:22940797T>C	ENST00000596209.1	-	4	2004	c.1914A>G	c.(1912-1914)aaA>aaG	p.K638K	ZNF99_ENST00000397104.3_Silent_p.K547K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	638					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.K547K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTATCTCATGTTTTCTAAGGG	0.368																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1639-1641)AAA>AAG		zinc finger protein 99							37.0	39.0	39.0					19																	22940797		1997	4196	6193	SO:0001819	synonymous_variant	7652							g.chr19:22940797T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1914A>G	19.37:g.22940797T>C							p.K547K	NM_001080409	NP_001073878					5	1641	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1641A>G	CCDS59369.1																																																																																				PASS	0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		11	36	11	36	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544231	23544231	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:23544231G>C	ENST00000300619.7	-	4	1755	c.1550C>G	c.(1549-1551)cCc>cGc	p.P517R	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.P485R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	517					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.P517R(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAATTTGTAGGGTTTCTCTCC	0.353																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1549-1551)CCC>CGC		zinc finger protein 91							43.0	46.0	45.0					19																	23544231		2100	4250	6350	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544231G>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.1550C>G	19.37:g.23544231G>C	ENSP00000300619:p.Pro517Arg					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P485R	p.P517R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1663	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	517					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1550C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049560	0.36181	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.27890	1.85;1.64	1.71	1.71	0.24356	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50973	0.1647	M	0.72894	2.215	0.33226	D	0.555246	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.63484	-0.6627	9	0.87932	D	0	.	10.3697	0.44046	0.0:0.0:1.0:0.0	.	485;517	Q05481-2;Q05481	.;ZNF91_HUMAN	R	517;485	ENSP00000300619:P517R;ENSP00000380272:P485R	ENSP00000300619:P517R	P	-	2	0	ZNF91	23336071	0.925000	0.31364	0.005000	0.12908	0.036000	0.12997	1.192000	0.32150	0.921000	0.36994	0.205000	0.17691	CCC		PASS	0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		8	44	8	44	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23578154	23578154	+	Start_Codon_SNP	SNP	C	C	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:23578154C>G	ENST00000300619.7	-	1	208	c.3G>C	c.(1-3)atG>atC	p.M1I	ZNF91_ENST00000397082.2_Start_Codon_SNP_p.M1I|ZNF91_ENST00000599743.1_Start_Codon_SNP_p.M1I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1					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.M1I(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGTTCCTGGCATCTTAGCTG	0.612																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATC		zinc finger protein 91							75.0	76.0	75.0					19																	23578154		2203	4300	6503	SO:0001582	initiator_codon_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23578154C>G	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.3G>C	19.37:g.23578154C>G	ENSP00000300619:p.Met1Ile					ZNF91_uc010xrj.1_Missense_Mutation_p.M1I	p.M1I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			1	116	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	0.517	-0.863864	0.02590	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.04758	3.59;3.56	0.225	-0.451	0.12214	.	.	.	.	.	T	0.03783	0.0107	.	.	.	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.42207	-0.9465	7	0.87932	D	0	.	.	.	.	.	1;1	Q05481-2;Q05481	.;ZNF91_HUMAN	I	1	ENSP00000300619:M1I;ENSP00000380272:M1I	ENSP00000300619:M1I	M	-	3	0	ZNF91	23369994	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.657000	0.05335	-0.715000	0.04968	-0.708000	0.03648	ATG		PASS	0.612	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	Missense_Mutation	15	63	15	63	---	---	---	---
FFAR3	2865	broad.mit.edu	37	19	35849930	35849930	+	Silent	SNP	C	C	T	rs375665593		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:35849930C>T	ENST00000327809.4	+	2	339	c.138C>T	c.(136-138)cgC>cgT	p.R46R	FFAR3_ENST00000594310.1_Silent_p.R46R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R46R(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCAGCGCCGCCCGGTGGCCG	0.642																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)CGC>CGT		free fatty acid receptor 3		C		0,4398		0,0,2199	174.0	160.0	165.0		138	3.9	1.0	19		165	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	FFAR3	NM_005304.3		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		46/347	35849930	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849930C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.138C>T	19.37:g.35849930C>T						FFAR3_uc010xsu.1_RNA	p.R46R	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	213	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		46			Cytoplasmic.		B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.138C>T	CCDS12459.1																																																																																				PASS	0.642	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		14	132	14	132	---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40478439	40478439	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:40478439C>T	ENST00000157812.2	+	3	497	c.299C>T	c.(298-300)aCa>aTa	p.T100I	PSMC4_ENST00000455878.2_Missense_Mutation_p.T69I	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T100I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GATCAGAATACAGCCATCGTG	0.488																																					Colon(105;1478 1543 4034 6132 38638)	uc002omq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)ACA>ATA		proteasome 26S ATPase subunit 4 isoform 1							52.0	48.0	50.0					19																	40478439		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40478439C>T	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.299C>T	19.37:g.40478439C>T	ENSP00000157812:p.Thr100Ile					PSMC4_uc002omr.2_Missense_Mutation_p.T69I	p.T100I	NM_006503	NP_006494	P43686	PRS6B_HUMAN			3	336	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		100					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.299C>T	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	c	16.78	3.217389	0.58560	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94457	-3.43;-3.42	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	L	0.50333	1.59	0.80722	D	1	B;P	0.37158	0.169;0.585	B;B	0.41723	0.142;0.365	D	0.93808	0.7107	10	0.62326	D	0.03	-4.7423	15.5455	0.76097	0.0:1.0:0.0:0.0	.	69;100	P43686-2;P43686	.;PRS6B_HUMAN	I	100;69	ENSP00000157812:T100I;ENSP00000413869:T69I	ENSP00000157812:T100I	T	+	2	0	PSMC4	45170279	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.539000	0.67199	2.273000	0.75805	0.561000	0.74099	ACA		PASS	0.488	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		7	22	7	22	---	---	---	---
LYPD4	147719	broad.mit.edu	37	19	42342205	42342205	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:42342205G>A	ENST00000330743.3	-	4	1553	c.342C>T	c.(340-342)ctC>ctT	p.L114L	LYPD4_ENST00000343055.4_Silent_p.L79L|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Silent_p.L79L	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	114						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L114L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGTTGTTGCAGAGATAAGACC	0.552																																						uc002orp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(340-342)CTC>CTT		LY6/PLAUR domain containing 4 precursor							147.0	126.0	133.0					19																	42342205		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342205G>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.342C>T	19.37:g.42342205G>A						LYPD4_uc002orq.1_Silent_p.L79L	p.L114L	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN			4	1326	-			114					Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.342C>T	CCDS12587.1																																																																																				PASS	0.552	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		17	62	17	62	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794659	42794659	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:42794659G>C	ENST00000575354.2	+	10	1779	c.1739G>C	c.(1738-1740)gGt>gCt	p.G580A	CIC_ENST00000160740.3_Missense_Mutation_p.G580A|CIC_ENST00000572681.2_Missense_Mutation_p.G1489A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	580	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G580A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCTGGGGGTCCAGCGACA	0.677			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1				Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(1738-1740)GGT>GCT		capicua homolog							34.0	42.0	39.0					19																	42794659		2202	4299	6501	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794659G>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1739G>C	19.37:g.42794659G>C	ENSP00000458663:p.Gly580Ala						p.G580A	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	1779	+		Prostate(69;0.00682)	580			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.1739G>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914036	0.17907	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.98	2.8	0.32819	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.31467	N	0.668853	B	0.13145	0.007	B	0.10450	0.005	T	0.15723	-1.0427	8	0.87932	D	0	-10.7495	6.2848	0.21027	0.1:0.1903:0.7097:0.0	.	580	Q96RK0	CIC_HUMAN	A	580	.	ENSP00000160740:G580A	G	+	2	0	CIC	47486499	0.944000	0.32072	0.983000	0.44433	0.219000	0.24729	1.292000	0.33342	1.216000	0.43427	-0.479000	0.04858	GGT		PASS	0.677	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	31	15	31	---	---	---	---
IGFL1	374918	broad.mit.edu	37	19	46733753	46733753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:46733753C>A	ENST00000437936.1	+	3	325	c.302C>A	c.(301-303)tCg>tAg	p.S101*	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	101						extracellular space (GO:0005615)		p.S101*(1)		lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		GCCCGGACCTCGGATGACAGG	0.587																																						uc002pee.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(301-303)TCG>TAG		IGF-like family member 1 precursor							102.0	104.0	103.0					19																	46733753		2025	4190	6215	SO:0001587	stop_gained	374918					extracellular space	protein binding	g.chr19:46733753C>A	AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.302C>A	19.37:g.46733753C>A	ENSP00000415823:p.Ser101*						p.S101*	NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)	3	325	+		Ovarian(192;0.0731)|all_neural(266;0.196)	101						Nonsense_Mutation	SNP	ENST00000437936.1	37	c.302C>A	CCDS46123.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442032	0.25900	.	.	ENSG00000188293	ENST00000437936	.	.	.	2.61	-2.34	0.06704	.	2.757530	0.02145	N	0.057482	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2911	6.4329	0.21807	0.0:0.4863:0.0:0.5137	.	.	.	.	X	101	.	ENSP00000415823:S101X	S	+	2	0	IGFL1	51425593	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.133000	0.01308	-0.430000	0.07318	-0.448000	0.05591	TCG		PASS	0.587	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461724.1	NM_198541		5	102	5	102	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823500	47823500	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:47823500G>T	ENST00000355085.3	+	2	488	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	156					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.A156S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GGCCTGGATCGCCTGTGCCGT	0.607																																						uc002pgj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(466-468)GCC>TCC		complement component 5 receptor 1							76.0	76.0	76.0					19																	47823500		2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823500G>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.466G>T	19.37:g.47823500G>T	ENSP00000347197:p.Ala156Ser						p.A156S	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	515	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	156			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000355085.3	37	c.466G>T	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303988	0.60305	.	.	ENSG00000197405	ENST00000355085	T	0.38077	1.16	4.97	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.637620	0.14747	U	0.300836	T	0.52092	0.1713	M	0.69248	2.105	0.09310	N	1	P	0.47409	0.895	P	0.56163	0.793	T	0.45542	-0.9254	10	0.45353	T	0.12	.	14.2828	0.66224	0.0:0.4273:0.5727:0.0	.	156	P21730	C5AR_HUMAN	S	156	ENSP00000347197:A156S	ENSP00000347197:A156S	A	+	1	0	C5AR1	52515340	0.000000	0.05858	0.041000	0.18516	0.006000	0.05464	0.134000	0.15932	0.444000	0.26612	0.478000	0.44815	GCC		PASS	0.607	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		10	45	10	45	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737714	48737714	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:48737714G>A	ENST00000359009.4	-	3	334	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	CARD8_ENST00000519940.1_Missense_Mutation_p.P99L|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Missense_Mutation_p.P49L|CARD8_ENST00000447740.2_Missense_Mutation_p.P49L|CARD8_ENST00000520015.1_Missense_Mutation_p.P99L|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Missense_Mutation_p.P99L|CARD8_ENST00000391898.3_Missense_Mutation_p.P99L|CARD8_ENST00000521613.1_Missense_Mutation_p.P49L			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	8					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)	p.H8Y(1)		endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GAACAATAATGGCTCTGCCTC	0.458																																						uc002pie.3																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)CAT>TAT		caspase recruitment domain family, member 8							159.0	132.0	141.0					19																	48737714		2203	4300	6503	SO:0001583	missense	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737714G>A	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.22C>T	19.37:g.48737714G>A	ENSP00000351901:p.His8Tyr					CARD8_uc002pii.3_Missense_Mutation_p.P99L|CARD8_uc010xzi.1_Missense_Mutation_p.H8Y|CARD8_uc010els.2_5'Flank|CARD8_uc010xzj.1_Missense_Mutation_p.P99L|CARD8_uc010xzk.1_Missense_Mutation_p.H32Y|CARD8_uc002pif.3_Missense_Mutation_p.H8Y|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.P49L|CARD8_uc010xzl.1_Missense_Mutation_p.P49L|CARD8_uc010xzm.1_Missense_Mutation_p.P99L	p.H8Y	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	335	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	8					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37	c.22C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.579|6.579	0.475193|0.475193	0.12521|0.12521	.|.	.|.	ENSG00000105483|ENSG00000105483	ENST00000359009|ENST00000447740;ENST00000391898;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T|T;T;T;T;T;T;T	0.13196|0.21734	2.61|2.43;2.3;1.99;2.43;1.99;2.43;2.3	1.21|1.21	-2.32|-2.32	0.06745|0.06745	.|.	.|.	.|.	.|.	.|.	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|B;B;B	0.02656|0.02656	0.0;0.0;0.0|0.0;0.0;0.0	B;B;B|B;B;B	0.01281|0.01281	0.0;0.0;0.0|0.0;0.0;0.0	T|T	0.27706|0.27706	-1.0066|-1.0066	9|9	0.34782|0.51188	T|T	0.22|0.08	.|.	2.5598|2.5598	0.04769|0.04769	0.3629:0.3282:0.3088:0.0|0.3629:0.3282:0.3088:0.0	.|.	32;8;8|99;99;49	B5KVR7;Q9Y2G2-2;Q9Y2G2|E9PEM7;Q9Y2G2-3;G3XAM9	.;.;CARD8_HUMAN|.;.;.	Y|L	8|49;99;99;49;99;49;99	ENSP00000351901:H8Y|ENSP00000391248:P49L;ENSP00000375767:P99L;ENSP00000429839:P99L;ENSP00000428736:P49L;ENSP00000430747:P99L;ENSP00000427858:P49L;ENSP00000428883:P99L	ENSP00000351901:H8Y|ENSP00000375767:P99L	H|P	-|-	1|2	0|0	CARD8|CARD8	53429526|53429526	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.935000|-0.935000	0.03950|0.03950	-0.696000|-0.696000	0.05098|0.05098	0.411000|0.411000	0.27672|0.27672	CAT|CCA		PASS	0.458	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		17	57	17	57	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49793961	49793961	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:49793961C>A	ENST00000335875.4	-	11	2083	c.1842G>T	c.(1840-1842)tgG>tgT	p.W614C	SLC6A16_ENST00000454748.3_Missense_Mutation_p.W614C	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	614					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.W614C(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACAGATGGGGCCACAGCCAAC	0.537																																						uc002pmz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|kidney(1)	4						c.(1840-1842)TGG>TGT		solute carrier family 6, member 16							45.0	48.0	47.0					19																	49793961		1998	4160	6158	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49793961C>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1842G>T	19.37:g.49793961C>A	ENSP00000338627:p.Trp614Cys					SLC6A16_uc002pna.2_Missense_Mutation_p.W614C	p.W614C	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	11	2076	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	614			Helical; Name=11; (Potential).		Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1842G>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416937	0.42918	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.79033	-1.23;-1.23	4.99	4.99	0.66335	.	0.068969	0.64402	D	0.000007	D	0.89884	0.6844	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.91653	0.5336	10	0.87932	D	0	.	14.4914	0.67654	0.0:1.0:0.0:0.0	.	614;614	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	C	614	ENSP00000338627:W614C;ENSP00000404022:W614C	ENSP00000338627:W614C	W	-	3	0	SLC6A16	54485773	0.973000	0.33851	0.949000	0.38748	0.013000	0.08279	2.380000	0.44327	2.697000	0.92050	0.609000	0.83330	TGG		PASS	0.537	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		3	9	3	9	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53958064	53958064	+	RNA	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:53958064G>T	ENST00000454407.1	+	0	756							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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.W47C(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATTTCAATGGCAAGAAGATG	0.363																																						uc010eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)TGG>TGT		zinc finger protein 761							78.0	78.0	78.0					19																	53958064		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958064G>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958064G>T						ZNF761_uc010ydy.1_Missense_Mutation_p.W47C|ZNF761_uc002qbt.1_Missense_Mutation_p.W47C	p.W101C	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	761	+			101					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.303G>T																																																																																					PASS	0.363	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		23	57	23	57	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54313983	54313983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:54313983C>T	ENST00000324134.6	-	3	1098	c.930G>A	c.(928-930)tgG>tgA	p.W310*	NLRP12_ENST00000391775.3_Nonsense_Mutation_p.W310*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.W310*|NLRP12_ENST00000345770.5_Nonsense_Mutation_p.W310*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.W310*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.W310*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.W310*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.W310*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	310	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.W310*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCAGAGGCACCAGGGTCCCT	0.572																																						uc002qch.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(928-930)TGG>TGA		NLR family, pyrin domain containing 12 isoform							45.0	47.0	46.0					19																	54313983		2203	4300	6503	SO:0001587	stop_gained	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313983C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.930G>A	19.37:g.54313983C>T	ENSP00000319377:p.Trp310*					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Nonsense_Mutation_p.W310*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.W310*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.W310*	p.W310*	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1150	-	Ovarian(34;0.19)		310			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Nonsense_Mutation	SNP	ENST00000324134.6	37	c.930G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	37	6.101317	0.97286	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	.	.	.	4.47	0.668	0.17912	.	0.770639	0.11134	N	0.596045	.	.	.	.	.	.	0.25695	N	0.985644	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	7.3617	0.26750	0.3275:0.5125:0.16:0.0	.	.	.	.	X	310	.	ENSP00000319377:W310X	W	-	3	0	NLRP12	59005795	0.001000	0.12720	0.802000	0.32245	0.808000	0.45660	0.352000	0.20113	0.415000	0.25817	0.306000	0.20318	TGG		PASS	0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		10	25	10	25	---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57037235	57037235	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:57037235A>T	ENST00000308031.5	+	5	1932	c.1799A>T	c.(1798-1800)cAg>cTg	p.Q600L	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	600					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.Q600L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGGCCCTATCAGTGTTTTGAA	0.423																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1798-1800)CAG>CTG		zinc finger protein 471							79.0	78.0	78.0					19																	57037235		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037235A>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1799A>T	19.37:g.57037235A>T	ENSP00000309161:p.Gln600Leu						p.Q600L	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1932	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	600			C2H2-type 15.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1799A>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344408	0.24339	.	.	ENSG00000196263	ENST00000308031	T	0.19669	2.13	3.9	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16171	0.0389	L	0.48877	1.53	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24476	-1.0159	9	0.62326	D	0.03	.	5.7058	0.17907	0.3507:0.3694:0.0:0.2799	.	600	Q9BX82	ZN471_HUMAN	L	600	ENSP00000309161:Q600L	ENSP00000309161:Q600L	Q	+	2	0	ZNF471	61729047	0.000000	0.05858	0.176000	0.23000	0.975000	0.68041	-1.371000	0.02573	-0.984000	0.03507	0.379000	0.24179	CAG		PASS	0.423	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		22	42	22	42	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328739	57328739	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:57328739C>A	ENST00000326441.9	-	10	1434	c.1071G>T	c.(1069-1071)agG>agT	p.R357S	PEG3_ENST00000423103.2_Missense_Mutation_p.R357S|PEG3_ENST00000593695.1_Missense_Mutation_p.R231S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R233S|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	357					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R357S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCACTGACTCCCTCTTGTTCA	0.458																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1069-1071)AGG>AGT		paternally expressed 3 isoform 1							81.0	76.0	78.0					19																	57328739		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328739C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1071G>T	19.37:g.57328739C>A	ENSP00000326581:p.Arg357Ser					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R328S|PEG3_uc002qnv.2_Missense_Mutation_p.R357S|PEG3_uc002qnw.2_Missense_Mutation_p.R233S|PEG3_uc002qnx.2_Missense_Mutation_p.R231S|PEG3_uc010etr.2_Missense_Mutation_p.R357S	p.R357S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1422	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	357					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1071G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779709	0.49891	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02890	4.12;4.12	4.25	0.976	0.19727	.	0.000000	0.49916	D	0.000138	T	0.06142	0.0159	L	0.36672	1.1	.	.	.	D;D;P	0.76494	0.999;0.99;0.954	D;P;P	0.63488	0.915;0.868;0.541	T	0.20338	-1.0278	9	0.52906	T	0.07	-34.8148	7.7293	0.28777	0.0:0.7031:0.0:0.2969	.	233;357;292	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	357;357;327	ENSP00000326581:R357S;ENSP00000403051:R357S	ENSP00000292074:R327S	R	-	3	2	ZIM2	62020551	0.000000	0.05858	0.883000	0.34634	0.937000	0.57800	-0.175000	0.09825	0.317000	0.23160	0.655000	0.94253	AGG		PASS	0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			20	47	20	47	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57641512	57641512	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:57641512A>C	ENST00000254181.4	+	4	1923	c.1469A>C	c.(1468-1470)aAg>aCg	p.K490T	USP29_ENST00000598197.1_Missense_Mutation_p.K490T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	490	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.K490T(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGATGTGTAAGCAGAAGAGT	0.393																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1468-1470)AAG>ACG		ubiquitin specific peptidase 29							103.0	106.0	105.0					19																	57641512		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641512A>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1469A>C	19.37:g.57641512A>C	ENSP00000254181:p.Lys490Thr						p.K490T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1825	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	490						Missense_Mutation	SNP	ENST00000254181.4	37	c.1469A>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	2.811	-0.246900	0.05867	.	.	ENSG00000131864	ENST00000254181	T	0.76186	-1.0	2.38	1.29	0.21616	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.79816	0.4511	M	0.71871	2.18	0.09310	N	1	D	0.71674	0.998	D	0.65874	0.939	T	0.65393	-0.6179	9	0.51188	T	0.08	-3.496	2.7504	0.05279	0.5674:0.2766:0.156:0.0	.	490	Q9HBJ7	UBP29_HUMAN	T	490	ENSP00000254181:K490T	ENSP00000254181:K490T	K	+	2	0	USP29	62333324	0.005000	0.15991	0.001000	0.08648	0.018000	0.09664	-0.164000	0.09983	0.289000	0.22422	0.482000	0.46254	AAG		PASS	0.393	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			18	110	18	110	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58099930	58099930	+	Silent	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr19:58099930C>A	ENST00000597850.1	+	3	311	c.96C>A	c.(94-96)atC>atA	p.I32I	ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000536878.2_Silent_p.I19I	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I32I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGAGGACATCGCCATTTACT	0.522																																						uc002qpg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(94-96)ATC>ATA		zinc finger protein interacting with K protein							275.0	214.0	234.0					19																	58099930		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58099930C>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.96C>A	19.37:g.58099930C>A						ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_5'UTR|ZIK1_uc002qpi.2_Silent_p.I19I|ZIK1_uc002qpj.2_Intron	p.I32I	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	193	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	32			KRAB.		O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.96C>A	CCDS33135.1																																																																																				PASS	0.522	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		25	63	25	63	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33623108	33623108	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr20:33623108G>T	ENST00000252015.2	-	8	958	c.869C>A	c.(868-870)gCc>gAc	p.A290D	TRPC4AP_ENST00000539834.1_5'Flank|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.A251D|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.A290D			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	290	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.A290D(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GCTGAGAAGGGCCGCTGCCAG	0.483																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(868-870)GCC>GAC		TRPC4-associated protein isoform a							54.0	51.0	52.0					20																	33623108		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33623108G>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.869C>A	20.37:g.33623108G>T	ENSP00000252015:p.Ala290Asp					TRPC4AP_uc010zuq.1_5'UTR|TRPC4AP_uc002xbl.2_Missense_Mutation_p.A290D|TRPC4AP_uc010zur.1_Missense_Mutation_p.A251D|TRPC4AP_uc002xbm.1_Missense_Mutation_p.A290D	p.A290D	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		8	903	-			290			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.869C>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570744	0.65765	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	T;T;T	0.28069	1.63;1.63;1.63	5.49	5.49	0.81192	.	0.049253	0.85682	D	0.000000	T	0.28962	0.0719	L	0.38175	1.15	0.80722	D	1	B;B;P	0.34462	0.244;0.309;0.454	B;B;B	0.32289	0.051;0.143;0.143	T	0.05451	-1.0884	10	0.52906	T	0.07	.	19.3723	0.94493	0.0:0.0:1.0:0.0	.	251;290;290	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	D	290;290;251;275	ENSP00000252015:A290D;ENSP00000400614:A290D;ENSP00000400497:A251D	ENSP00000252015:A290D	A	-	2	0	TRPC4AP	33086769	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.303000	0.96183	2.587000	0.87381	0.557000	0.71058	GCC		PASS	0.483	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		13	22	13	22	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40710638	40710638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr20:40710638C>A	ENST00000373187.1	-	30	4155	c.4156G>T	c.(4156-4158)Gga>Tga	p.G1386*	PTPRT_ENST00000373184.1_Nonsense_Mutation_p.G1396*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.G1395*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.G1385*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.G1405*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.G1376*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.G1389*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1386	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G1408*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGAAGGTTCCACTACGGCCT	0.478																																						uc002xkg.2																			1	Substitution - Nonsense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(4156-4158)GGA>TGA		protein tyrosine phosphatase, receptor type, T							135.0	134.0	134.0					20																	40710638		2081	4221	6302	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40710638C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4156G>T	20.37:g.40710638C>A	ENSP00000362283:p.Gly1386*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.G1405*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.G589*	p.G1386*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			30	4340	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1386			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.4156G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	45	11.859109	0.99611	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1385;1386;1389;1395;1408;1396;1376	.	ENSP00000348408:G1395X	G	-	1	0	PTPRT	40144052	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	7.792000	0.85828	2.884000	0.98904	0.655000	0.94253	GGA		PASS	0.478	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			5	54	5	54	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40713348	40713348	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr20:40713348C>A	ENST00000373187.1	-	29	4109	c.4110G>T	c.(4108-4110)agG>agT	p.R1370S	PTPRT_ENST00000373184.1_Missense_Mutation_p.R1380S|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1379S|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1369S|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1389S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1360S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1373S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1370	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R1392S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACGTCCCTCCCTCCCGTCAT	0.607																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(4108-4110)AGG>AGT		protein tyrosine phosphatase, receptor type, T							54.0	60.0	58.0					20																	40713348		2067	4190	6257	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713348C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4110G>T	20.37:g.40713348C>A	ENSP00000362283:p.Arg1370Ser					PTPRT_uc010ggj.2_Missense_Mutation_p.R1389S|PTPRT_uc010ggi.2_Missense_Mutation_p.R573S	p.R1370S	NM_007050	NP_008981	O14522	PTPRT_HUMAN			29	4294	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1370			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4110G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426151	0.43020	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.65	4.7	0.59300	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.050319	0.85682	D	0.000000	T	0.10423	0.0255	L	0.27053	0.805	0.46356	D	0.999006	B;B	0.27264	0.143;0.173	B;B	0.29440	0.098;0.102	T	0.10683	-1.0619	10	0.56958	D	0.05	.	8.4508	0.32869	0.0:0.782:0.0:0.2179	.	1392;1370	O14522-1;O14522	.;PTPRT_HUMAN	S	1369;1370;1373;1379;1392;1380;1360	ENSP00000362286:R1369S;ENSP00000362283:R1370S;ENSP00000362289:R1373S;ENSP00000348408:R1379S;ENSP00000362294:R1392S;ENSP00000362280:R1380S;ENSP00000362297:R1360S	ENSP00000348408:R1379S	R	-	3	2	PTPRT	40146762	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.614000	0.24314	1.598000	0.50083	0.655000	0.94253	AGG		PASS	0.607	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	17	4	17	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737703	62737703	+	Missense_Mutation	SNP	C	C	T	rs373389160		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr20:62737703C>T	ENST00000369768.1	-	1	821	c.482G>A	c.(481-483)cGg>cAg	p.R161Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	161					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.R161Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CTTCGCCCCCCGGTAGGTGCG	0.632																																						uc011abt.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(481-483)CGG>CAG		neuropeptides B/W receptor 2		C	GLN/ARG	1,4387		0,1,2193	20.0	22.0	21.0		482	-0.9	0.0	20		21	0,8546		0,0,4273	no	missense	NPBWR2	NM_005286.2	43	0,1,6466	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	161/334	62737703	1,12933	2194	4273	6467	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737703C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.482G>A	20.37:g.62737703C>T	ENSP00000358783:p.Arg161Gln						p.R161Q	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	482	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		161			Cytoplasmic (Potential).		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.482G>A	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515430	0.44763	2.28E-4	0.0	ENSG00000125522	ENST00000369768	T	0.41758	0.99	3.9	-0.934	0.10428	GPCR, rhodopsin-like superfamily (1);	0.090637	0.45361	U	0.000374	T	0.48447	0.1500	M	0.77486	2.375	0.28501	N	0.914021	D	0.61697	0.99	P	0.53313	0.723	T	0.48490	-0.9031	10	0.35671	T	0.21	.	8.2301	0.31593	0.0:0.6146:0.0:0.3854	.	161	P48146	NPBW2_HUMAN	Q	161	ENSP00000358783:R161Q	ENSP00000358783:R161Q	R	-	2	0	NPBWR2	62208147	0.971000	0.33674	0.000000	0.03702	0.074000	0.17049	2.229000	0.42990	-0.188000	0.10499	0.491000	0.48974	CGG		PASS	0.632	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		7	8	7	8	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10920107	10920107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr21:10920107G>A	ENST00000361285.4	-	19	1476	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	TPTE_ENST00000298232.7_Nonsense_Mutation_p.Q365*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Q345*|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	383	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Q365*(1)|p.Q383*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTACTCCCTGAAATTTTTCG	0.378																																						uc002yip.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1147-1149)CAG>TAG		transmembrane phosphatase with tensin homology							90.0	86.0	87.0					21																	10920107		2203	4300	6503	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920107G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1147C>T	21.37:g.10920107G>A	ENSP00000355208:p.Gln383*					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.Q365*|TPTE_uc002yir.1_Nonsense_Mutation_p.Q345*|TPTE_uc010gkv.1_Nonsense_Mutation_p.Q245*	p.Q383*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1515	-			383			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1147C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	24.7	4.559843	0.86335	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.32	2.32	0.28847	.	0.060752	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-12.0512	8.1818	0.31315	0.0:0.0:1.0:0.0	.	.	.	.	X	365;383;345	.	ENSP00000298232:Q365X	Q	-	1	0	TPTE	9941978	1.000000	0.71417	0.906000	0.35671	0.134000	0.20937	5.387000	0.66243	1.313000	0.45069	0.184000	0.17185	CAG		PASS	0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	85	7	85	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40570785	40570785	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr21:40570785G>T	ENST00000333229.2	-	40	5884	c.5557C>A	c.(5557-5559)Cct>Act	p.P1853T	BRWD1_ENST00000380800.3_Missense_Mutation_p.P1853T|BRWD1_ENST00000342449.3_Missense_Mutation_p.P1853T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1853					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1853T(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATAGCAATAGGGTCACAGTTC	0.363																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(5557-5559)CCT>ACT		bromodomain and WD repeat domain containing 1							125.0	121.0	122.0					21																	40570785		2202	4300	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40570785G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5557C>A	21.37:g.40570785G>T	ENSP00000330753:p.Pro1853Thr					BRWD1_uc010goc.1_Missense_Mutation_p.P496T|BRWD1_uc002yxl.2_Missense_Mutation_p.P1853T	p.P1853T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			40	5696	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1853					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5557C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677191	0.29783	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54479	0.57;0.57;0.57	5.48	0.127	0.14727	.	0.851400	0.10571	N	0.659105	T	0.42154	0.1190	M	0.63843	1.955	0.09310	N	0.999999	B;B	0.31548	0.328;0.003	B;B	0.28011	0.085;0.001	T	0.43861	-0.9365	10	0.66056	D	0.02	-0.5456	1.4634	0.02401	0.3518:0.139:0.3752:0.134	.	1853;1853	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	T	1853	ENSP00000330753:P1853T;ENSP00000344333:P1853T;ENSP00000370178:P1853T	ENSP00000330753:P1853T	P	-	1	0	BRWD1	39492655	0.383000	0.25156	0.000000	0.03702	0.021000	0.10359	0.669000	0.25142	-0.040000	0.13580	0.655000	0.94253	CCT		PASS	0.363	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		8	106	8	106	---	---	---	---
YBEY	54059	broad.mit.edu	37	21	47707005	47707005	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr21:47707005C>A	ENST00000329319.3	+	2	576	c.178C>A	c.(178-180)Cca>Aca	p.P60T	YBEY_ENST00000397701.4_Missense_Mutation_p.P60T|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397691.1_Missense_Mutation_p.P60T|MCM3AP_ENST00000397708.1_5'Flank|MCM3AP_ENST00000291688.1_5'Flank|YBEY_ENST00000339195.6_Missense_Mutation_p.P60T	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	60					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.P60T(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TAGAAATGTCCCAACCGATGT	0.373																																						uc002ziv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)CCA>ACA		hypothetical protein LOC54059 isoform 1							71.0	69.0	70.0					21																	47707005		2203	4300	6503	SO:0001583	missense	54059						metal ion binding|metalloendopeptidase activity	g.chr21:47707005C>A	AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.178C>A	21.37:g.47707005C>A	ENSP00000329614:p.Pro60Thr					C21orf57_uc002zit.1_Missense_Mutation_p.P60T|C21orf57_uc002ziu.1_Missense_Mutation_p.P60T|C21orf57_uc002ziw.2_Intron|C21orf57_uc002zix.2_Missense_Mutation_p.P60T|C21orf57_uc010gqh.2_Intron|C21orf57_uc002ziy.2_Missense_Mutation_p.P60T|MCM3AP_uc002zir.1_5'Flank	p.P60T	NM_058181	NP_478061	P58557	YBEY_HUMAN		Colorectal(79;0.236)	2	607	+	Breast(49;0.112)		60					B7WPA9|B7WPF7|D3DSN2	Missense_Mutation	SNP	ENST00000329319.3	37	c.178C>A	CCDS33591.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186568	0.78789	.	.	ENSG00000182362	ENST00000397701;ENST00000329319;ENST00000339195;ENST00000397691	.	.	.	5.35	5.35	0.76521	Metalloprotease catalytic domain, predicted (1);	0.134612	0.50627	D	0.000107	T	0.80336	0.4604	M	0.84683	2.71	0.50313	D	0.999869	D;D;D	0.89917	1.0;0.966;0.959	D;P;P	0.75484	0.986;0.815;0.824	T	0.83208	-0.0075	9	0.72032	D	0.01	-14.8574	13.5763	0.61877	0.0:0.8437:0.1563:0.0	.	60;60;60	P58557-2;P58557;Q8TBC8	.;YBEY_HUMAN;.	T	60	.	ENSP00000329614:P60T	P	+	1	0	YBEY	46531433	0.999000	0.42202	0.089000	0.20774	0.031000	0.12232	5.064000	0.64338	2.488000	0.83962	0.655000	0.94253	CCA		PASS	0.373	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	NM_058181		5	46	5	46	---	---	---	---
VPREB1	7441	broad.mit.edu	37	22	22599440	22599440	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:22599440G>A	ENST00000403807.3	+	2	268	c.129G>A	c.(127-129)ctG>ctA	p.L43L	VPREB1_ENST00000302273.2_Silent_p.L42L			P12018	VPREB_HUMAN	pre-B lymphocyte 1	43	Complementarity-determining-1.|Ig-like V-type.							p.L43L(1)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CCTGCACCCTGAGGAACGACC	0.592																																						uc002zvx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)CTG>CTA		immunoglobulin iota chain precursor							98.0	96.0	96.0					22																	22599440		2203	4300	6503	SO:0001819	synonymous_variant	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599440G>A	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.129G>A	22.37:g.22599440G>A						LOC96610_uc011aim.1_Intron	p.L43L	NM_007128	NP_009059	P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	155	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	43			Ig-like V-type.|Complementarity-determining-1.		B5MCG2	Silent	SNP	ENST00000403807.3	37	c.129G>A	CCDS13798.1																																																																																				PASS	0.592	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			11	89	11	89	---	---	---	---
SLC2A11	66035	broad.mit.edu	37	22	24210776	24210776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:24210776G>T	ENST00000345044.6	+	3	497	c.229G>T	c.(229-231)Gga>Tga	p.G77*	SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000403208.3_Nonsense_Mutation_p.G77*|SLC2A11_ENST00000316185.8_Nonsense_Mutation_p.G80*|SLC2A11_ENST00000398356.2_Nonsense_Mutation_p.G84*|AP000350.10_ENST00000433835.3_Nonsense_Mutation_p.G42*|SLC2A11_ENST00000405847.1_Nonsense_Mutation_p.G77*			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	77					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.G84*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTATCCCCTGGGAGGCCTCTT	0.567																																						uc002zyn.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(229-231)GGA>TGA		glucose transporter protein 10 isoform c							161.0	119.0	133.0					22																	24210776		2203	4300	6503	SO:0001587	stop_gained	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24210776G>T	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.229G>T	22.37:g.24210776G>T	ENSP00000342542:p.Gly77*					SLC2A11_uc002zyl.1_Nonsense_Mutation_p.G84*|SLC2A11_uc002zym.3_Nonsense_Mutation_p.G84*|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Nonsense_Mutation_p.G84*|SLC2A11_uc011ajd.1_Nonsense_Mutation_p.G71*|SLC2A11_uc002zyp.3_Nonsense_Mutation_p.G80*	p.G77*	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN			3	328	+			77			Helical; Name=2; (Potential).		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Nonsense_Mutation	SNP	ENST00000345044.6	37	c.229G>T	CCDS46673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.533002|3.533002	0.64972|0.64972	.|.	.|.	ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000251357|ENSG00000251357	ENST00000345044;ENST00000403208;ENST00000398356;ENST00000398363;ENST00000398359;ENST00000405847;ENST00000407566;ENST00000316185;ENST00000433835|ENST00000421180	.|.	.|.	.|.	3.24|3.24	3.24|3.24	0.37175|0.37175	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.60392	.|0.2265	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68663	.|-0.5349	.|3	0.87932|.	D|.	0|.	.|.	12.7957|12.7957	0.57558|0.57558	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	77;77;84;77;84;77;84;80;42|52	.|.	ENSP00000400325:G42X|.	G|W	+|+	1|3	0|0	AP000350.10;SLC2A11|AP000350.10	22540776|22540776	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.095000|0.095000	0.18619|0.18619	7.937000|7.937000	0.87672|0.87672	2.158000|2.158000	0.67659|0.67659	0.400000|0.400000	0.26472|0.26472	GGA|TGG		PASS	0.567	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		5	35	5	35	---	---	---	---
RTCB	51493	broad.mit.edu	37	22	32802670	32802670	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:32802670G>T	ENST00000216038.5	-	4	417	c.319C>A	c.(319-321)Cct>Act	p.P107T	RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_Missense_Mutation_p.P107T	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.P107T(1)									ACTGCTTCAGGGTCATTCATA	0.468																																						uc003amm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CCT>ACT		hypothetical protein LOC51493							178.0	155.0	163.0					22																	32802670		2203	4300	6503	SO:0001583	missense	51493				cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding	g.chr22:32802670G>T	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.319C>A	22.37:g.32802670G>T	ENSP00000216038:p.Pro107Thr					C22orf28_uc011ama.1_RNA	p.P107T	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN			4	450	-			107						Missense_Mutation	SNP	ENST00000216038.5	37	c.319C>A	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755890	0.69648	.	.	ENSG00000100220	ENST00000216038;ENST00000451746	T;T	0.44083	1.6;0.93	5.78	3.7	0.42460	.	0.144593	0.64402	D	0.000005	T	0.59972	0.2233	M	0.72118	2.19	0.80722	D	1	P	0.49862	0.929	P	0.59825	0.864	T	0.60409	-0.7269	10	0.49607	T	0.09	-0.8452	15.3964	0.74798	0.1262:0.0:0.8738:0.0	.	107	Q9Y3I0	RTCB_HUMAN	T	107	ENSP00000216038:P107T;ENSP00000413466:P107T	ENSP00000216038:P107T	P	-	1	0	C22orf28	31132670	1.000000	0.71417	0.985000	0.45067	0.958000	0.62258	6.565000	0.73974	0.385000	0.24970	-1.134000	0.01955	CCT		PASS	0.468	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		7	137	7	137	---	---	---	---
RBFOX2	23543	broad.mit.edu	37	22	36177730	36177730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:36177730C>A	ENST00000438146.2	-	4	525	c.526G>T	c.(526-528)Gag>Tag	p.E176*	RBFOX2_ENST00000449924.2_Nonsense_Mutation_p.E105*|RBFOX2_ENST00000414461.2_Nonsense_Mutation_p.E105*|RBFOX2_ENST00000262829.7_Nonsense_Mutation_p.E105*|RBFOX2_ENST00000416721.2_Nonsense_Mutation_p.E105*|RBFOX2_ENST00000359369.4_Nonsense_Mutation_p.E85*|RBFOX2_ENST00000405409.2_Nonsense_Mutation_p.E106*|RBFOX2_ENST00000397303.2_Nonsense_Mutation_p.E86*	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	115	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E106*(1)		endometrium(4)|large_intestine(7)|lung(7)	18						GATTTACTCTCTGAATTTTCA	0.453																																						uc003aon.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(526-528)GAG>TAG		RNA binding motif protein 9 isoform 5							163.0	168.0	166.0					22																	36177730		2203	4300	6503	SO:0001587	stop_gained	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36177730C>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.526G>T	22.37:g.36177730C>A	ENSP00000413035:p.Glu176*					RBM9_uc003aog.3_Nonsense_Mutation_p.E86*|RBM9_uc003aol.3_Nonsense_Mutation_p.E105*|RBM9_uc003aoj.3_Nonsense_Mutation_p.E105*|RBM9_uc003aok.3_Nonsense_Mutation_p.E106*|RBM9_uc003aoh.3_Nonsense_Mutation_p.E105*|RBM9_uc003aom.3_Nonsense_Mutation_p.E105*|RBM9_uc010gwu.2_Nonsense_Mutation_p.E85*|RBM9_uc003aoo.3_Nonsense_Mutation_p.E175*|RBM9_uc003aop.3_Nonsense_Mutation_p.E105*	p.E176*	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN			4	638	-			115					A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Nonsense_Mutation	SNP	ENST00000438146.2	37	c.526G>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573688	0.96553	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	.	.	.	5.63	5.63	0.86233	.	0.153163	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6891	0.95991	0.0:1.0:0.0:0.0	.	.	.	.	X	106;115;105;105;105;86;85;105;176;128;85	.	ENSP00000262829:E105X	E	-	1	0	RBFOX2	34507676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.100000	0.76989	2.641000	0.89580	0.650000	0.86243	GAG		PASS	0.453	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			8	176	8	176	---	---	---	---
MICALL1	85377	broad.mit.edu	37	22	38333762	38333762	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:38333762G>T	ENST00000215957.6	+	15	2559	c.2433G>T	c.(2431-2433)gaG>gaT	p.E811D	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	811	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.E811D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGGAGGAAGAGGAAGACAAGA	0.542																																						uc003aui.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2431-2433)GAG>GAT		molecule interacting with Rab13							194.0	165.0	175.0					22																	38333762		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38333762G>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2433G>T	22.37:g.38333762G>T	ENSP00000215957:p.Glu811Asp						p.E811D	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			15	2517	+	Melanoma(58;0.045)		811			Potential.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.2433G>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443142	0.63067	.	.	ENSG00000100139	ENST00000215957;ENST00000402631;ENST00000424008	T;T;T	0.52295	0.67;0.67;0.67	5.15	5.15	0.70609	Domain of unknown function DUF3585 (1);	0.103079	0.42420	N	0.000705	T	0.53578	0.1805	M	0.80183	2.485	0.50171	D	0.999854	P	0.35192	0.489	B	0.38683	0.279	T	0.60850	-0.7181	10	0.72032	D	0.01	.	12.0497	0.53500	0.0794:0.0:0.9206:0.0	.	811	Q8N3F8	MILK1_HUMAN	D	811;238;125	ENSP00000215957:E811D;ENSP00000384608:E238D;ENSP00000416766:E125D	ENSP00000215957:E811D	E	+	3	2	MICALL1	36663708	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.463000	0.60128	2.391000	0.81399	0.467000	0.42956	GAG		PASS	0.542	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		8	198	8	198	---	---	---	---
DMC1	11144	broad.mit.edu	37	22	38934604	38934604	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:38934604C>A	ENST00000216024.2	-	10	876	c.600G>T	c.(598-600)atG>atT	p.M200I	DMC1_ENST00000428462.2_Missense_Mutation_p.M145I	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	200			M -> V (in dbSNP:rs2227914). {ECO:0000269|Ref.5}.		female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.M200I(1)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CAAGTAGCTCCATCTGATGTT	0.383								Homologous recombination																														uc003avz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)ATG>ATT	Homologous_recombination	DMC1 dosage suppressor of mck1 homolog							113.0	114.0	114.0					22																	38934604		2203	4300	6503	SO:0001583	missense	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38934604C>A	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.600G>T	22.37:g.38934604C>A	ENSP00000216024:p.Met200Ile					DMC1_uc011anv.1_Missense_Mutation_p.M145I	p.M200I	NM_007068	NP_008999	Q14565	DMC1_HUMAN			10	775	-	Melanoma(58;0.0286)		200					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	c.600G>T	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527754	0.44969	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567	T;T;T	0.64991	-0.13;-0.06;1.12	5.6	5.6	0.85130	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	N	0.21282	0.65	0.35714	D	0.816616	B;B	0.19445	0.036;0.008	B;B	0.21360	0.034;0.024	T	0.52939	-0.8508	10	0.30078	T	0.28	-5.0231	19.6136	0.95619	0.0:1.0:0.0:0.0	.	145;200	B4DMW6;Q14565	.;DMC1_HUMAN	I	200;145;145	ENSP00000216024:M200I;ENSP00000412703:M145I;ENSP00000391385:M145I	ENSP00000216024:M200I	M	-	3	0	DMC1	37264550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.641000	0.89580	0.585000	0.79938	ATG		PASS	0.383	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		8	188	8	188	---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077580	41077580	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:41077580C>T	ENST00000249016.4	+	2	1613	c.917C>T	c.(916-918)tCc>tTc	p.S306F	MCHR1_ENST00000381433.2_Missense_Mutation_p.S180F|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	306					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.S306F(2)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CGCATGACGTCCTCAGTGGCC	0.602																																						uc003ayz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(916-918)TCC>TTC		G protein-coupled receptor 24							106.0	79.0	88.0					22																	41077580		2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077580C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.917C>T	22.37:g.41077580C>T	ENSP00000249016:p.Ser306Phe					MCHR1_uc003aza.2_Missense_Mutation_p.S195F|uc003azb.1_RNA	p.S306F	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	1185	+			306			Cytoplasmic (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.917C>T	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088843	0.76756	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.38240	1.15;1.15	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.365553	0.33772	N	0.004580	T	0.46132	0.1377	L	0.56396	1.775	0.44048	D	0.996781	P	0.47484	0.896	P	0.48524	0.58	T	0.48502	-0.9030	10	0.87932	D	0	.	16.6948	0.85332	0.0:1.0:0.0:0.0	.	306	Q99705	MCHR1_HUMAN	F	306;180	ENSP00000249016:S306F;ENSP00000370841:S180F	ENSP00000249016:S306F	S	+	2	0	MCHR1	39407526	0.978000	0.34361	0.508000	0.27688	0.980000	0.70556	6.012000	0.70767	2.607000	0.88179	0.655000	0.94253	TCC		PASS	0.602	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		7	51	7	51	---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50318061	50318061	+	Nonsense_Mutation	SNP	G	G	T	rs113168785	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:50318061G>T	ENST00000328268.4	+	8	900	c.826G>T	c.(826-828)Gag>Tag	p.E276*	CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000404488.3_Nonsense_Mutation_p.E325*|CRELD2_ENST00000403427.3_Nonsense_Mutation_p.E248*|CRELD2_ENST00000444954.1_3'UTR	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	276						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.E325*(1)|p.E276*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		AAACTGTAAAGAGTGTATCTC	0.602																																						uc003bja.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(826-828)GAG>TAG		cysteine-rich with EGF-like domains 2 isoform b							98.0	84.0	89.0					22																	50318061		2202	4299	6501	SO:0001587	stop_gained	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50318061G>T	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.826G>T	22.37:g.50318061G>T	ENSP00000332223:p.Glu276*					CRELD2_uc010haj.2_Nonsense_Mutation_p.E276*|CRELD2_uc010hal.2_Nonsense_Mutation_p.E325*|CRELD2_uc010hak.2_Nonsense_Mutation_p.E248*|CRELD2_uc010ham.2_Intron	p.E276*	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	8	961	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	276			FU 2.		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Nonsense_Mutation	SNP	ENST00000328268.4	37	c.826G>T	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385541	0.61956	.	.	ENSG00000184164	ENST00000404488;ENST00000328268;ENST00000403427	.	.	.	4.24	1.59	0.23543	.	0.994532	0.08165	N	0.987910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6673	0.23047	0.1663:0.1798:0.6538:0.0	.	.	.	.	X	325;276;248	.	ENSP00000332223:E276X	E	+	1	0	CRELD2	48704065	0.006000	0.16342	0.004000	0.12327	0.071000	0.16799	1.835000	0.39181	0.735000	0.32537	0.563000	0.77884	GAG		PASS	0.602	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		4	13	4	13	---	---	---	---
SELO	83642	broad.mit.edu	37	22	50649059	50649059	+	Splice_Site	SNP	G	G	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:50649059G>T	ENST00000380903.2	+	5	1128		c.e5-1		RP3-402G11.28_ENST00000608016.1_RNA|SELO_ENST00000492092.1_Splice_Site	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN										p.?(1)					all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGTGTGGCAGGTACGACCCC	0.672											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011arr.1																			1	Unknown(1)		lung(1)		0						c.e5-1		selenoprotein O							32.0	38.0	36.0					22																	50649059		2145	4231	6376	SO:0001630	splice_region_variant	83642							g.chr22:50649059G>T																												ENST00000380903.2:c.1071-1G>T	22.37:g.50649059G>T			OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	SELO_uc010hap.2_Splice_Site_p.R168_splice|SELO_uc003bjy.2_Splice_Site_p.R37_splice|SELO_uc003bjz.2_Splice_Site_p.R37_splice	p.R357_splice	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	5	1129	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)						Q2TAL2|Q5JZ81|Q8WUI0	Splice_Site	SNP	ENST00000380903.2	37	c.1071_splice	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986352	0.53934	.	.	ENSG00000073169	ENST00000380903	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0969	0.97855	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP3-402G11.5	48991186	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	9.670000	0.98625	2.761000	0.94854	0.561000	0.74099	.		PASS	0.672	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2		Intron	4	19	4	19	---	---	---	---
MAPK8IP2	23542	broad.mit.edu	37	22	51040245	51040245	+	Silent	SNP	A	A	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:51040245A>G	ENST00000329492.3	+	2	210	c.93A>G	c.(91-93)gaA>gaG	p.E31E	MAPK8IP2_ENST00000008876.5_5'Flank|MAPK8IP2_ENST00000442429.2_Silent_p.E31E|MAPK8IP2_ENST00000399908.2_5'Flank|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Silent_p.E31E	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	31	Asp/Glu-rich (acidic).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.E31E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTGGAAGAATTTGACGACG	0.587																																						uc003bmx.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|central_nervous_system(1)	3						c.(91-93)GAA>GAG		mitogen-activated protein kinase 8 interacting							88.0	92.0	91.0					22																	51040245		1968	4147	6115	SO:0001819	synonymous_variant	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51040245A>G	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.93A>G	22.37:g.51040245A>G						MAPK8IP2_uc003bmy.2_5'Flank	p.E31E	NM_012324	NP_036456	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	210	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	31			Asp/Glu-rich (acidic).		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000329492.3	37	c.93A>G																																																																																					PASS	0.587	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324		4	76	4	76	---	---	---	---
STS	412	broad.mit.edu	37	X	7268042	7268042	+	Missense_Mutation	SNP	G	G	A	rs200993070		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:7268042G>A	ENST00000217961.4	+	10	1712	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	498					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.D498N(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CACCCATCACGACCCACCTTT	0.493									Ichthyosis				G|||	1	0.000264901	0.0008	0.0	3775	,	,		13134	0.0		0.0	False		,,,				2504	0.0					uc004cry.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1492-1494)GAC>AAC		steryl-sulfatase precursor	Estrone(DB00655)						88.0	76.0	80.0					X																	7268042		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268042G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1492G>A	X.37:g.7268042G>A	ENSP00000217961:p.Asp498Asn						p.D498N	NM_000351	NP_000342	P08842	STS_HUMAN			10	1737	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	498			Lumenal.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1492G>A	CCDS14127.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.474	0.087858	0.08583	.	.	ENSG00000101846	ENST00000217961	D	0.90732	-2.72	4.22	-0.41	0.12374	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.382552	0.27986	N	0.017043	T	0.81365	0.4807	L	0.31526	0.94	0.24462	N	0.994433	B	0.16802	0.019	B	0.17979	0.02	T	0.67573	-0.5636	10	0.34782	T	0.22	.	7.4023	0.26971	0.2826:0.1816:0.5358:0.0	.	498	P08842	STS_HUMAN	N	498	ENSP00000217961:D498N	ENSP00000217961:D498N	D	+	1	0	STS	7278042	0.806000	0.28996	0.007000	0.13788	0.042000	0.13812	0.824000	0.27379	-0.094000	0.12374	-0.191000	0.12829	GAC		PASS	0.493	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		15	19	15	19	---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12905841	12905841	+	Silent	SNP	G	G	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:12905841G>A	ENST00000380659.3	+	3	2353	c.2214G>A	c.(2212-2214)ctG>ctA	p.L738L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	738				L -> P (in Ref. 2; AAF78035). {ECO:0000305}.	cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L738L(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TCAGGAGTCTGACGAAGTATT	0.423																																						uc004cvc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(2212-2214)CTG>CTA		toll-like receptor 7 precursor	Imiquimod(DB00724)						65.0	65.0	65.0					X																	12905841		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905841G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2214G>A	X.37:g.12905841G>A							p.L738L	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2353	+			738	L -> P (in Ref. 2; AAF78035).		LRR 25.|Extracellular (Potential).		D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.2214G>A	CCDS14151.1																																																																																				PASS	0.423	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		20	50	20	50	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16846272	16846272	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:16846272C>A	ENST00000380122.5	+	4	615	c.554C>A	c.(553-555)gCc>gAc	p.A185D	TXLNG_ENST00000398155.4_Missense_Mutation_p.A53D	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	185					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)	p.A185D(1)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						AAGAAGCAAGCCCAGATTGTG	0.418																																						uc004cxq.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(553-555)GCC>GAC		gamma-taxilin							91.0	80.0	84.0					X																	16846272		2203	4300	6503	SO:0001583	missense	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16846272C>A	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.554C>A	X.37:g.16846272C>A	ENSP00000369465:p.Ala185Asp					TXLNG_uc010ney.1_Missense_Mutation_p.A53D	p.A185D	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN			4	605	+			185			Potential.		Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	c.554C>A	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924992	0.52759	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.27890	1.64;1.64	5.39	5.39	0.77823	.	0.248154	0.40818	N	0.001016	T	0.22820	0.0551	N	0.05554	-0.025	0.49915	D	0.999837	P;B	0.43024	0.798;0.392	P;B	0.46299	0.511;0.374	T	0.06862	-1.0803	10	0.12430	T	0.62	-7.9393	18.3145	0.90215	0.0:1.0:0.0:0.0	.	53;185	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	D	185;53	ENSP00000369465:A185D;ENSP00000381222:A53D	ENSP00000369465:A185D	A	+	2	0	TXLNG	16756193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.846000	0.62860	2.265000	0.75225	0.600000	0.82982	GCC		PASS	0.418	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		21	42	21	42	---	---	---	---
KLF8	11279	broad.mit.edu	37	X	56295866	56295866	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:56295866G>C	ENST00000468660.1	+	4	990	c.702G>C	c.(700-702)gaG>gaC	p.E234D	KLF8_ENST00000374928.3_Missense_Mutation_p.E234D	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	234					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.E234D(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						ACAGTGAGGAGAGTACAATTG	0.463																																						uc004dur.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)GAG>GAC		Kruppel-like factor 8 isoform 1							144.0	111.0	122.0					X																	56295866		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56295866G>C	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.702G>C	X.37:g.56295866G>C	ENSP00000417303:p.Glu234Asp					KLF8_uc010nkg.2_3'UTR|KLF8_uc011mop.1_Missense_Mutation_p.E234D|KLF8_uc010nkh.2_RNA	p.E234D	NM_007250	NP_009181	O95600	KLF8_HUMAN			4	1648	+			234					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.702G>C	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	2.907	-0.226161	0.06022	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.05319	3.46	4.25	1.05	0.20165	.	0.278433	0.30159	N	0.010272	T	0.02494	0.0076	N	0.12746	0.255	0.37185	D	0.903698	B;B	0.17852	0.024;0.004	B;B	0.17979	0.02;0.002	T	0.44081	-0.9351	10	0.02654	T	1	.	4.9816	0.14168	0.1289:0.4234:0.4477:0.0	.	234;234	E7EQQ8;O95600	.;KLF8_HUMAN	D	234	ENSP00000417303:E234D	ENSP00000364063:E234D	E	+	3	2	KLF8	56312591	1.000000	0.71417	0.743000	0.31040	0.763000	0.43281	1.421000	0.34815	0.320000	0.23234	0.600000	0.82982	GAG		PASS	0.463	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		8	15	8	15	---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935671	57935671	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:57935671C>A	ENST00000358697.4	-	1	1396	c.1184G>T	c.(1183-1185)gGc>gTc	p.G395V		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	395	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G395V(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTTCTTGCAGCCAGAAAACGC	0.572																																						uc004dve.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1183-1185)GGC>GTC		zinc finger, X-linked, duplicated A							129.0	115.0	120.0					X																	57935671		2203	4300	6503	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935671C>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1184G>T	X.37:g.57935671C>A	ENSP00000351530:p.Gly395Val						p.G395V	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1397	-			395			C2H2-type 5.|Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.1184G>T	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	17.79	3.474928	0.63737	.	.	ENSG00000198205	ENST00000358697	T	0.58358	0.34	3.45	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.052776	0.85682	D	0.000000	T	0.52869	0.1761	N	0.16708	0.43	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.49960	-0.8883	9	.	.	.	.	11.9651	0.53029	0.0:1.0:0.0:0.0	.	395	P98168	ZXDA_HUMAN	V	395	ENSP00000351530:G395V	.	G	-	2	0	ZXDA	57952396	1.000000	0.71417	0.974000	0.42286	0.957000	0.61999	5.196000	0.65136	1.967000	0.57214	0.415000	0.27848	GGC		PASS	0.572	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		16	32	16	32	---	---	---	---
AWAT2	158835	broad.mit.edu	37	X	69262236	69262236	+	Splice_Site	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:69262236C>A	ENST00000276101.3	-	6	653	c.648G>T	c.(646-648)ggG>ggT	p.G216G		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	216					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.G216G(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TTAGAGGCACCCTGCAGAGCA	0.542																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)GGG>GGT		wax synthase 2							69.0	61.0	64.0					X																	69262236		2203	4300	6503	SO:0001630	splice_region_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69262236C>A	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.648-1G>T	X.37:g.69262236C>A							p.G216G	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			6	654	-			216					Q6IEE3|Q6P437	Silent	SNP	ENST00000276101.3	37	c.648G>T	CCDS35320.1																																																																																				PASS	0.542	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	Silent	4	27	4	27	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76763844	76763844	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:76763844T>A	ENST00000373344.5	-	35	7678	c.7464A>T	c.(7462-7464)caA>caT	p.Q2488H	ATRX_ENST00000395603.3_Missense_Mutation_p.Q2450H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2488					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.Q2488H(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGATTTCCCTTGGGAAGGTC	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(7462-7464)CAA>CAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						123.0	124.0	123.0					X																	76763844		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76763844T>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7464A>T	X.37:g.76763844T>A	ENSP00000362441:p.Gln2488His					ATRX_uc004ecq.3_Missense_Mutation_p.Q2450H|ATRX_uc004eco.3_Missense_Mutation_p.Q2273H	p.Q2488H	NM_000489	NP_000480	P46100	ATRX_HUMAN			35	7696	-			2488					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.7464A>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	6.665	0.491219	0.12702	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92595	-3.07;-3.07	4.86	3.72	0.42706	.	0.421044	0.20786	U	0.085720	D	0.86855	0.6033	L	0.27053	0.805	0.80722	D	1	P;P	0.41848	0.763;0.681	B;B	0.44224	0.444;0.254	D	0.86412	0.1749	10	0.66056	D	0.02	.	7.6597	0.28396	0.0:0.1676:0.0:0.8324	.	2450;2488	P46100-4;P46100	.;ATRX_HUMAN	H	2488;2450	ENSP00000362441:Q2488H;ENSP00000378967:Q2450H	ENSP00000362441:Q2488H	Q	-	3	2	ATRX	76650500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.025000	0.41059	1.915000	0.55452	0.481000	0.45027	CAA		PASS	0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		31	62	31	62	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79936891	79936891	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:79936891C>A	ENST00000373275.4	-	40	4819	c.4603G>T	c.(4603-4605)Gac>Tac	p.D1535Y	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1535					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.D1535Y(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCCCTGGGTCATGGCTATTT	0.393																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4603-4605)GAC>TAC		bromodomain and WD repeat domain containing 3							153.0	146.0	148.0					X																	79936891		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79936891C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4603G>T	X.37:g.79936891C>A	ENSP00000362372:p.Asp1535Tyr					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edp.2_Missense_Mutation_p.D1364Y|BRWD3_uc004edq.2_Missense_Mutation_p.D1131Y|BRWD3_uc010nmj.1_Missense_Mutation_p.D1131Y|BRWD3_uc004edr.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eds.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edu.2_Missense_Mutation_p.D1205Y|BRWD3_uc004edv.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edw.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edx.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edy.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edz.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eea.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eeb.2_Missense_Mutation_p.D1131Y	p.D1535Y	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			40	4866	-			1535					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4603G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296498	0.60086	.	.	ENSG00000165288	ENST00000373275	T	0.54866	0.55	4.06	4.06	0.47325	.	0.359008	0.28688	N	0.014465	T	0.51805	0.1696	L	0.29908	0.895	0.39119	D	0.961626	D	0.58970	0.984	P	0.54372	0.75	T	0.52616	-0.8552	9	.	.	.	-10.2888	13.9697	0.64233	0.0:1.0:0.0:0.0	.	1535	Q6RI45	BRWD3_HUMAN	Y	1535	ENSP00000362372:D1535Y	.	D	-	1	0	BRWD3	79823547	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.825000	0.62708	1.980000	0.57719	0.415000	0.27848	GAC		PASS	0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		24	60	24	60	---	---	---	---
BEX1	55859	broad.mit.edu	37	X	102317936	102317936	+	Silent	SNP	C	C	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:102317936C>T	ENST00000372728.3	-	3	506	c.267G>A	c.(265-267)gtG>gtA	p.V89V		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	89					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)	p.V89V(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCAGCTGTCTCACCTCCTCCC	0.512																																						uc004ejt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(265-267)GTG>GTA		brain expressed, X-linked 1							288.0	212.0	238.0					X																	102317936		2203	4300	6503	SO:0001819	synonymous_variant	55859				cell differentiation|nervous system development	cytoplasm|nucleus		g.chrX:102317936C>T		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.267G>A	X.37:g.102317936C>T							p.V89V	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN			3	507	-			89					A0AVN1|A8K4J3|Q9NZ33	Silent	SNP	ENST00000372728.3	37	c.267G>A	CCDS35354.1																																																																																				PASS	0.512	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		33	73	33	73	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125686327	125686327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:125686327C>A	ENST00000371126.1	-	1	507	c.265G>T	c.(265-267)Gag>Tag	p.E89*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	89								p.E89*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGTTGGCGCTCCGTCAGCAGC	0.657																																						uc004eul.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(265-267)GAG>TAG		DDB1 and CUL4 associated factor 12-like 1							70.0	58.0	62.0					X																	125686327		2203	4300	6503	SO:0001587	stop_gained	139170							g.chrX:125686327C>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.265G>T	X.37:g.125686327C>A	ENSP00000360167:p.Glu89*						p.E89*	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	516	-			89					Q8IYK3	Nonsense_Mutation	SNP	ENST00000371126.1	37	c.265G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992270	0.93167	.	.	ENSG00000198889	ENST00000371126	.	.	.	3.54	1.77	0.24775	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.9913	0.24758	0.0:0.7556:0.0:0.2444	.	.	.	.	X	89	.	ENSP00000360167:E89X	E	-	1	0	DCAF12L1	125514008	0.998000	0.40836	0.002000	0.10522	0.363000	0.29612	3.878000	0.56130	0.352000	0.24053	0.498000	0.49722	GAG		PASS	0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		11	15	11	15	---	---	---	---
STK26	51765	broad.mit.edu	37	X	131206864	131206864	+	Silent	SNP	G	G	C			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:131206864G>C	ENST00000481105.1	+	11	1332	c.1116G>C	c.(1114-1116)ctG>ctC	p.L372L	MST4_ENST00000496850.1_Silent_p.L288L|MST4_ENST00000394334.2_Silent_p.L350L|MST4_ENST00000394335.2_Silent_p.L273L|MST4_ENST00000354719.6_Intron														p.L350L(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TGCAAACCCTGAGTTGTTTGT	0.284																																						uc004ewk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(1048-1050)CTG>CTC		serine/threonine protein kinase MST4 isoform 1							108.0	107.0	108.0					X																	131206864		2203	4300	6503	SO:0001819	synonymous_variant	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131206864G>C																												ENST00000481105.1:c.1116G>C	X.37:g.131206864G>C						MST4_uc004ewl.1_Silent_p.L273L|MST4_uc011mux.1_Silent_p.L372L|MST4_uc010nrj.1_Intron|MST4_uc004ewm.1_Silent_p.L288L	p.L350L	NM_016542	NP_057626	Q9P289	MST4_HUMAN			10	1351	+	Acute lymphoblastic leukemia(192;0.000127)		350						Silent	SNP	ENST00000481105.1	37	c.1050G>C																																																																																					PASS	0.284	MST4-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000355066.1			15	40	15	40	---	---	---	---
SLC6A8	6535	broad.mit.edu	37	X	152959701	152959701	+	Missense_Mutation	SNP	C	C	G	rs3179358		TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:152959701C>G	ENST00000253122.5	+	9	1847	c.1371C>G	c.(1369-1371)atC>atG	p.I457M	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.I342M	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	457					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.I457M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCTTTGTCATCGATCTCTCCA	0.617																																						uc004fib.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1369-1371)ATC>ATG		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						96.0	97.0	97.0					X																	152959701		2203	4299	6502	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152959701C>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1371C>G	X.37:g.152959701C>G	ENSP00000253122:p.Ile457Met					SLC6A8_uc004fic.3_Missense_Mutation_p.I447M|SLC6A8_uc011myx.1_Missense_Mutation_p.I342M|SLC6A8_uc010nuj.2_RNA	p.I457M	NM_005629	NP_005620	P48029	SC6A8_HUMAN			9	1649	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		457			Helical; (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.1371C>G	CCDS14726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.26|15.26	2.780474|2.780474	0.49891|0.49891	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897;ENST00000413787|ENST00000442457	T;T;T|.	0.76448|.	-1.02;-1.02;-1.02|.	5.35|5.35	-1.06|-1.06	0.10002|0.10002	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.68686|0.68686	0.3028|0.3028	M|M	0.75264|0.75264	2.295|2.295	0.48288|0.48288	D|D	0.999624|0.999624	P;P|.	0.48589|.	0.836;0.912|.	P;P|.	0.48334|.	0.574;0.557|.	T|T	0.66972|0.66972	-0.5788|-0.5788	10|5	0.35671|.	T|.	0.21|.	.|.	11.0508|11.0508	0.47889|0.47889	0.0:0.3544:0.0:0.6456|0.0:0.3544:0.0:0.6456	.|.	466;457|.	Q59EV7;P48029|.	.;SC6A8_HUMAN|.	M|W	457;342;500;100|142	ENSP00000253122:I457M;ENSP00000403041:I342M;ENSP00000400463:I100M|.	ENSP00000253122:I457M|.	I|S	+|+	3|2	3|0	SLC6A8|SLC6A8	152612895|152612895	0.002000|0.002000	0.14202|0.14202	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	-1.653000|-1.653000	0.01986|0.01986	-0.233000|-0.233000	0.09797|0.09797	0.529000|0.529000	0.55759|0.55759	ATC|TCG		PASS	0.617	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			39	59	39	59	---	---	---	---
LOC729506	729506	broad.mit.edu	37	5	8387811	8387811	+	lincRNA	DEL	C	C	-			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr5:8387811delC	ENST00000501071.1	-	0	179				RP11-480D4.2_ENST00000512406.1_lincRNA	NR_039984.1																						CTGCCTCCCACCAGGATGTAG	0.478																																						uc003jeh.1																			0													Homo sapiens cDNA clone IMAGE:5297486.																																						0							g.chr5:8387811delC																													5.37:g.8387811delC														3		-									RNA	DEL	ENST00000501071.1	37	c.180delG																																																																																						0.478	RP11-480D4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365848.1			5	5	5	5	---	---	---	---
ZNF37BP	100129482	broad.mit.edu	37	10	43012142	43012143	+	RNA	DEL	CT	CT	-	rs56062397	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr10:43012142_43012143delCT	ENST00000452075.3	-	0	5451_5452					NR_026777.1				zinc finger protein 37B, pseudogene																		TCTCCTCCCCCTGTCCCTTCCA	0.505														49	0.00978435	0.0008	0.0043	5008	,	,		17657	0.0		0.0318	False		,,,				2504	0.0133					uc001jab.3																			0					0								Homo sapiens cDNA: FLJ23327 fis, clone HEP12630, highly similar to HSZNF37 Homo sapiens ZNF37A mRNA for zinc finger protein.																																						100129482							g.chr10:43012142_43012143delCT	AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43012142_43012143delCT						ZNF37B_uc001jac.3_RNA|ZNF37B_uc001jaa.3_RNA								5		-									RNA	DEL	ENST00000452075.3	37	c.7057_7058delAG																																																																																						0.505	ZNF37BP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047675.2	NR_026777		4	2	4	2	---	---	---	---
KRT16	3868	broad.mit.edu	37	17	39768931	39768932	+	Frame_Shift_Ins	INS	-	-	G			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:39768931_39768932insG	ENST00000301653.4	-	1	73_74	c.9_10insC	c.(7-12)acctgcfs	p.C4fs		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	4	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGGCGGCTGCAGGTGGTCATGG	0.653																																						uc002hxg.3																			0				skin(1)	1						c.(7-12)ACCTGCfs		keratin 16																																				SO:0001589	frameshift_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768931_39768932insG	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.10dupC	17.37:g.39768933_39768933dupG	ENSP00000301653:p.Cys4fs					JUP_uc010wfs.1_Intron	p.T3fs	NM_005557	NP_005548	P08779	K1C16_HUMAN			1	148_149	-		Breast(137;0.000307)	3_4			Head.		A8K488|P30654|Q16402|Q9UBG8	Frame_Shift_Ins	INS	ENST00000301653.4	37	c.9_10insC	CCDS11401.1																																																																																					0.653	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		4	2	4	2	---	---	---	---
RNF126P1	376412	broad.mit.edu	37	17	55123867	55123868	+	RNA	INS	-	-	GACT	rs3217120|rs71363884|rs528943212	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr17:55123867_55123868insGACT	ENST00000567452.1	+	0	1029_1030					NR_002818.2				ring finger protein 126 pseudogene 1																		GAAACCGCGGGGACTTTCCCAA	0.688														1618	0.323083	0.115	0.3429	5008	,	,		13439	0.5873		0.3151	False		,,,				2504	0.3262					uc002iuw.2																			0					0								Homo sapiens ring finger protein 126 pseudogene 1, mRNA (cDNA clone IMAGE:5166840), with apparent retained intron.																																						376412							g.chr17:55123867_55123868insGACT	BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55123868_55123871dupGACT								NR_002818						1		+									RNA	INS	ENST00000567452.1	37	c.1029_1030insGACT																																																																																						0.688	RNF126P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431453.1			5	3	5	3	---	---	---	---
LOC100505664	100505664	broad.mit.edu	37	20	23169414	23169417	+	lincRNA	DEL	TGTG	TGTG	-	rs149216999	byFrequency	TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr20:23169414_23169417delTGTG	ENST00000411595.1	+	0	31																											tgtgcatttatgtgtgtgtggtgt	0.446														125	0.0249601	0.0023	0.0548	5008	,	,		31645	0.0		0.0775	False		,,,				2504	0.0061					uc002wsw.1																			0													Homo sapiens cDNA FLJ34446 fis, clone HLUNG2002050.																																						0							g.chr20:23169414_23169417delTGTG																													20.37:g.23169418_23169421delTGTG														1		+									RNA	DEL	ENST00000411595.1	37	c.817_820delTGTG																																																																																						0.446	RP4-737E23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078311.1			2	4	2	4	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47897440	47897441	+	5'Flank	INS	-	-	T			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr20:47897440_47897441insT	ENST00000396105.1	-	0	0				SNORD12C_ENST00000386307.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZNFX1_ENST00000371752.1_5'Flank|ZFAS1_ENST00000371743.3_RNA|SNORD12_ENST00000391002.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZNFX1_ENST00000371754.4_5'Flank|ZFAS1_ENST00000450535.1_RNA	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTTCTATAGGTTGGGAGCCAC	0.436																																						uc002xuj.2																			0					0								Homo sapiens cDNA FLJ42181 fis, clone THYMU2031368.																																				SO:0001631	upstream_gene_variant	441951							g.chr20:47897440_47897441insT	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696		20.37:g.47897442_47897442dupT	Exception_encountered					ZNFX1_uc002xui.2_5'Flank|C20orf199_uc002xul.3_RNA|C20orf199_uc002xun.3_Intron|C20orf199_uc002xum.3_Intron|C20orf199_uc002xuo.2_Intron		NR_003605						4		+								Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	RNA	INS	ENST00000396105.1	37	c.412_413insT	CCDS13417.1																																																																																					0.436	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	4	4	4	---	---	---	---
PPM1F	9647	broad.mit.edu	37	22	22288587	22288587	+	Frame_Shift_Del	DEL	G	G	-			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chr22:22288587delG	ENST00000263212.5	-	4	472	c.367delC	c.(367-369)caafs	p.Q123fs	PPM1F_ENST00000407142.1_5'UTR|PPM1F_ENST00000397495.4_Frame_Shift_Del_p.Q123fs|PPM1F_ENST00000486259.1_5'Flank|PPM1F_ENST00000538191.1_Frame_Shift_Del_p.Q19fs	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	123					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCCAGGCTTTGGGCATCCAGC	0.627																																						uc002zvp.1																			0				ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5						c.(367-369)CAAfs		protein phosphatase 1F							23.0	26.0	25.0					22																	22288587		2194	4288	6482	SO:0001589	frameshift_variant	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22288587delG	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.367delC	22.37:g.22288587delG	ENSP00000263212:p.Gln123fs					PPM1F_uc011aik.1_Frame_Shift_Del_p.Q19fs|PPM1F_uc002zvq.2_Frame_Shift_Del_p.Q123fs	p.Q123fs	NM_014634	NP_055449	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	4	481	-	Colorectal(54;0.105)		123					A8K6G3|B7Z2C3|Q96PM2	Frame_Shift_Del	DEL	ENST00000263212.5	37	c.367delC	CCDS13796.1																																																																																					0.627	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		4	8	4	8	---	---	---	---
LINC01278	92249	broad.mit.edu	37	X	62648043	62648043	+	RNA	DEL	A	A	-			TCGA-46-3765-01A-01D-0983-08	TCGA-46-3765-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c4bb09f-46c8-4a42-bf4f-8bad5316603d	901a8f87-7ff9-4ae7-add8-d20380fc31fa	g.chrX:62648043delA	ENST00000609401.1	-	0	1281					NR_015353.1																						ATGATTTTGTAATTAGGGTGT	0.498																																						uc004dvg.2																			0					0								Homo sapiens cDNA FLJ10894 fis, clone NT2RP4002888, highly similar to Homo sapiens mRNA; cDNA DKFZp434F172.																																						92249							g.chrX:62648043delA																													X.37:g.62648043delA						LOC92249_uc004dvh.2_RNA|LOC92249_uc004dvi.2_Intron		NR_015353						4		-									RNA	DEL	ENST00000609401.1	37	c.1282delT																																																																																						0.498	RP11-357C3.3-003	KNOWN	basic	sense_overlapping	processed_transcript	OTTHUMT00000471675.1			4	2	4	2	---	---	---	---
