#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
TMEM51	55092	broad.mit.edu	37	1	15545933	15545933	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:15545933G>A	ENST00000428417.1	+	3	902	c.456G>A	c.(454-456)ccG>ccA	p.P152P	TMEM51_ENST00000400796.3_Silent_p.P152P|TMEM51_ENST00000376014.3_Silent_p.P152P|TMEM51_ENST00000376008.2_Silent_p.P152P|TMEM51_ENST00000434578.2_3'UTR	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	152						integral component of membrane (GO:0016021)		p.P152P(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCAGAACCCGAGGTTGAGCA	0.582																																						uc001avw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(454-456)CCG>CCA		transmembrane protein 51							95.0	91.0	92.0					1																	15545933		2203	4300	6503	SO:0001819	synonymous_variant	55092					integral to membrane		g.chr1:15545933G>A	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.456G>A	1.37:g.15545933G>A						TMEM51_uc010obk.1_Silent_p.P152P|TMEM51_uc001avz.2_3'UTR|TMEM51_uc001avy.2_Silent_p.P152P|TMEM51_uc001avx.2_Silent_p.P152P	p.P152P	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	4	975	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	152					A8K819	Silent	SNP	ENST00000428417.1	37	c.456G>A	CCDS154.1																																																																																				PASS	0.582	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		17	94	17	94	---	---	---	---
NBPF3	84224	broad.mit.edu	37	1	21797204	21797204	+	Missense_Mutation	SNP	G	G	T	rs72872292	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:21797204G>T	ENST00000318249.5	+	4	773	c.423G>T	c.(421-423)gaG>gaT	p.E141D	NBPF3_ENST00000454000.2_Missense_Mutation_p.E71D|NBPF3_ENST00000342104.5_Missense_Mutation_p.E141D|NBPF3_ENST00000318220.6_Missense_Mutation_p.E85D	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	141						cytoplasm (GO:0005737)		p.E141D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTGCAGAGGAGCTCGGGCAAG	0.547																																						uc001ber.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(421-423)GAG>GAT		neuroblastoma breakpoint family, member 3							44.0	49.0	48.0					1																	21797204		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21797204G>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.423G>T	1.37:g.21797204G>T	ENSP00000316782:p.Glu141Asp					NBPF3_uc001bes.2_Missense_Mutation_p.E85D|NBPF3_uc009vqb.2_Missense_Mutation_p.E141D|NBPF3_uc010odm.1_Missense_Mutation_p.E71D	p.E141D	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	773	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	141			Potential.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.423G>T	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	5.824	0.336330	0.11013	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.03717	3.83;4.08;4.06;4.06;4.08	1.23	0.278	0.15673	.	.	.	.	.	T	0.01905	0.0060	N	0.12746	0.255	0.09310	N	1	B;P;B	0.39404	0.139;0.672;0.094	B;B;B	0.35353	0.055;0.201;0.039	T	0.46076	-0.9217	9	0.37606	T	0.19	.	3.4952	0.07653	0.2735:0.0:0.7265:0.0	.	71;141;141	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	D	71;85;141;85;141;85	ENSP00000415711:E71D;ENSP00000316739:E85D;ENSP00000316782:E141D;ENSP00000340336:E141D;ENSP00000391865:E85D	ENSP00000316739:E85D	E	+	3	2	NBPF3	21669791	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.874000	0.28065	0.104000	0.17725	0.398000	0.26397	GAG		PASS	0.547	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		11	68	11	68	---	---	---	---
PODN	127435	broad.mit.edu	37	1	53535731	53535731	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:53535731C>T	ENST00000312553.5	+	2	355	c.348C>T	c.(346-348)tgC>tgT	p.C116C	PODN_ENST00000371500.3_Silent_p.C97C|PODN_ENST00000395871.2_Silent_p.C116C|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	68					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.C116C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGGTCAGCTGCCCCCGAGACT	0.667																																						uc001cuv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(346-348)TGC>TGT		podocan							38.0	38.0	38.0					1																	53535731		2203	4299	6502	SO:0001819	synonymous_variant	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53535731C>T	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.348C>T	1.37:g.53535731C>T						PODN_uc001cuw.2_Silent_p.C97C|PODN_uc010onr.1_Silent_p.C97C|PODN_uc010ons.1_Silent_p.C116C	p.C116C	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			2	355	+			68			LRRNT.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	c.348C>T	CCDS573.1																																																																																				PASS	0.667	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		6	39	6	39	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62330011	62330011	+	Missense_Mutation	SNP	C	C	A	rs139134153		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:62330011C>A	ENST00000371158.2	+	20	2655	c.2541C>A	c.(2539-2541)agC>agA	p.S847R	INADL_ENST00000316485.6_Missense_Mutation_p.S847R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	847					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S847R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TAGAGCAAAGCAAGGAGGCCT	0.368																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2539-2541)AGC>AGA		InaD-like							81.0	80.0	81.0					1																	62330011		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62330011C>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2541C>A	1.37:g.62330011C>A	ENSP00000360200:p.Ser847Arg					INADL_uc009waf.1_Missense_Mutation_p.S847R|INADL_uc001daa.2_Missense_Mutation_p.S847R|INADL_uc001dad.3_Missense_Mutation_p.S544R|INADL_uc001dac.2_RNA	p.S847R	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			20	2655	+			847					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2541C>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534189	0.27475	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12984	2.76;2.63	5.31	1.9	0.25705	.	0.604873	0.15743	N	0.246828	T	0.13500	0.0327	M	0.63428	1.95	0.09310	N	1	P;P;P	0.35433	0.496;0.501;0.496	B;B;B	0.38712	0.28;0.109;0.156	T	0.18398	-1.0338	10	0.40728	T	0.16	.	2.0466	0.03562	0.1444:0.2069:0.4228:0.2259	.	847;847;847	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	R	847	ENSP00000360200:S847R;ENSP00000326199:S847R	ENSP00000255202:S847R	S	+	3	2	INADL	62102599	0.000000	0.05858	0.010000	0.14722	0.589000	0.36550	-0.425000	0.07017	0.590000	0.29694	0.555000	0.69702	AGC		PASS	0.368	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		6	97	6	97	---	---	---	---
SRSF11	9295	broad.mit.edu	37	1	70700378	70700378	+	Splice_Site	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:70700378G>T	ENST00000370950.3	+	5	529		c.e5-1		SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		large_intestine(3)|ovary(2)|skin(1)	6						CCATTTCACAGATTGGCGCTG	0.418																																						uc001des.2																			1	Unknown(1)		lung(1)		0						c.e5-1		splicing factor, arginine/serine-rich 11							78.0	84.0	82.0					1																	70700378		2203	4300	6503	SO:0001630	splice_region_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70700378G>T	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.448-1G>T	1.37:g.70700378G>T						SFRS11_uc001det.2_Splice_Site_p.I150_splice|SFRS11_uc001deu.2_Splice_Site_p.I150_splice|SFRS11_uc001dev.2_Splice_Site|SFRS11_uc001dew.2_Splice_Site_p.I90_splice	p.I150_splice	NM_004768	NP_004759	Q05519	SRS11_HUMAN			5	572	+								Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37	c.448_splice	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385875	0.82902	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0826	0.93188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF11	70472966	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.598000	0.90852	2.513000	0.84729	0.557000	0.71058	.		PASS	0.418	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron	29	102	29	102	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94480239	94480239	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:94480239C>T	ENST00000370225.3	-	38	5406	c.5320G>A	c.(5320-5322)Gtc>Atc	p.V1774I	ABCA4_ENST00000536513.1_Missense_Mutation_p.V44I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1774					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V1774I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATGGGAATGACCGCCCATCTG	0.478																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(5320-5322)GTC>ATC		ATP-binding cassette, sub-family A member 4							201.0	171.0	181.0					1																	94480239		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94480239C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5320G>A	1.37:g.94480239C>T	ENSP00000359245:p.Val1774Ile					ABCA4_uc009wdp.1_Missense_Mutation_p.V42I	p.V1774I	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	38	5424	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1774			Helical; (Potential).		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.5320G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	0.943	-0.708954	0.03230	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513	D;D	0.87256	-2.23;-2.23	4.72	2.84	0.33178	.	0.125443	0.52532	N	0.000061	T	0.59595	0.2205	N	0.21142	0.635	0.80722	D	1	B;P	0.36330	0.005;0.548	B;B	0.37304	0.015;0.246	T	0.64984	-0.6278	10	0.02654	T	1	.	10.8451	0.46739	0.0:0.8464:0.0:0.1536	.	44;1774	B4DWY6;P78363	.;ABCA4_HUMAN	I	566;1774;44	ENSP00000359245:V1774I;ENSP00000439707:V44I	ENSP00000359245:V1774I	V	-	1	0	ABCA4	94252827	0.307000	0.24500	0.872000	0.34217	0.495000	0.33615	0.971000	0.29396	0.708000	0.31955	-0.142000	0.14014	GTC		PASS	0.478	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		37	171	37	171	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694041	156694041	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:156694041T>A	ENST00000313146.6	-	2	1629	c.847A>T	c.(847-849)Acc>Tcc	p.T283S	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Missense_Mutation_p.T283S	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	283	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)	p.T283S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATATGGGAGGTGTCACGGGTG	0.542																																						uc001fps.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(847-849)ACC>TCC		interferon stimulated exonuclease gene							92.0	97.0	95.0					1																	156694041		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694041T>A	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.847A>T	1.37:g.156694041T>A	ENSP00000323424:p.Thr283Ser					ISG20L2_uc001fpt.1_Missense_Mutation_p.T283S	p.T283S	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN			2	1108	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		283			Exonuclease.		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.847A>T	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	T	32	5.125457	0.94429	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.25579	1.79;1.79	5.73	5.73	0.89815	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.115876	0.64402	D	0.000020	T	0.51517	0.1679	M	0.90483	3.12	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.63363	-0.6654	10	0.87932	D	0	.	14.8465	0.70264	0.0:0.0:0.0:1.0	.	283	Q9H9L3	I20L2_HUMAN	S	283	ENSP00000323424:T283S;ENSP00000357202:T283S	ENSP00000323424:T283S	T	-	1	0	ISG20L2	154960665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.598000	0.82745	2.198000	0.70561	0.533000	0.62120	ACC		PASS	0.542	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		24	113	24	113	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157494301	157494301	+	Missense_Mutation	SNP	C	C	A	rs199994796		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:157494301C>A	ENST00000361835.3	-	10	2164	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	FCRL5_ENST00000368191.3_Missense_Mutation_p.Q584H|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368190.3_Missense_Mutation_p.Q669H|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q669H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	669	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.Q669H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCACCACAGCCTGGGCCCTGG	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		19736	0.001		0.0	False		,,,				2504	0.0					uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2005-2007)CAG>CAT		Fc receptor-like 5							46.0	52.0	50.0					1																	157494301		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494301C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2007G>T	1.37:g.157494301C>A	ENSP00000354691:p.Gln669His					FCRL5_uc009wsm.2_Missense_Mutation_p.Q669H|FCRL5_uc010phv.1_Missense_Mutation_p.Q669H|FCRL5_uc010phw.1_Missense_Mutation_p.Q584H	p.Q669H	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			10	2165	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	669			Extracellular (Potential).|Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2007G>T	CCDS1165.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.821	0.717748	0.15372	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	4.42	1.29	0.21616	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04272	0.0118	M	0.81239	2.535	0.09310	N	0.999995	D;D;B;B	0.76494	0.999;0.997;0.052;0.11	D;D;B;B	0.74023	0.982;0.973;0.159;0.224	T	0.28235	-1.0050	9	0.10636	T	0.68	.	3.2018	0.06652	0.1775:0.5518:0.1722:0.0984	.	584;669;669;669	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	H	669;669;669;584	ENSP00000354691:Q669H;ENSP00000349434:Q669H;ENSP00000357173:Q669H;ENSP00000357174:Q584H	ENSP00000349434:Q669H	Q	-	3	2	FCRL5	155760925	0.006000	0.16342	0.468000	0.27192	0.255000	0.26057	0.003000	0.13083	0.162000	0.19483	0.555000	0.69702	CAG		PASS	0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		18	67	18	67	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158735878	158735878	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:158735878C>A	ENST00000335094.2	-	1	614	c.595G>T	c.(595-597)Gat>Tat	p.D199Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D199Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATAACAAAATCTACTAGGACA	0.483																																						uc010piq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(595-597)GAT>TAT		olfactory receptor, family 6, subfamily N,							104.0	110.0	108.0					1																	158735878		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735878C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.595G>T	1.37:g.158735878C>A	ENSP00000335535:p.Asp199Tyr						p.D199Y	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	595	-	all_hematologic(112;0.0378)		199			Helical; Name=5; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.595G>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373764	0.24857	.	.	ENSG00000197403	ENST00000335094	T	0.00084	8.75	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000191	T	0.00210	0.0006	L	0.42581	1.335	0.40698	D	0.98245	D	0.89917	1.0	D	0.97110	1.0	D	0.93176	0.6570	10	0.52906	T	0.07	-15.5463	16.7399	0.85456	0.0:1.0:0.0:0.0	.	199	Q8NGY5	OR6N1_HUMAN	Y	199	ENSP00000335535:D199Y	ENSP00000335535:D199Y	D	-	1	0	OR6N1	157002502	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	0.236000	0.17967	2.454000	0.82982	0.655000	0.94253	GAT		PASS	0.483	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		40	141	40	141	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510281	169510281	+	Silent	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:169510281G>T	ENST00000367797.3	-	13	4248	c.4047C>A	c.(4045-4047)tcC>tcA	p.S1349S	F5_ENST00000367796.3_Silent_p.S1354S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1349	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S1349S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CGAGGGCTGGGGAAAGGTTTG	0.517																																						uc001ggg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4045-4047)TCC>TCA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						196.0	218.0	211.0					1																	169510281		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510281G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4047C>A	1.37:g.169510281G>T							p.S1349S	NM_000130	NP_000121	P12259	FA5_HUMAN			13	4192	-	all_hematologic(923;0.208)		1349			2-19.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.4047C>A	CCDS1281.1																																																																																				PASS	0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		59	205	59	205	---	---	---	---
FASLG	356	broad.mit.edu	37	1	172628635	172628635	+	Silent	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:172628635C>A	ENST00000367721.2	+	1	478	c.294C>A	c.(292-294)ggC>ggA	p.G98G	FASLG_ENST00000340030.3_Silent_p.G98G	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	98					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.G98G(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TAGGATTGGGCCTGGGGATGT	0.567																																					Ovarian(28;486 876 30334 44033)	uc001gis.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(1)	3						c.(292-294)GGC>GGA		fas ligand							133.0	119.0	124.0					1																	172628635		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628635C>A	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.294C>A	1.37:g.172628635C>A						FASLG_uc001git.2_Silent_p.G98G	p.G98G	NM_000639	NP_000630	P48023	TNFL6_HUMAN			1	451	+			98			Helical; Signal-anchor for type II membrane protein; (Potential).		Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.294C>A	CCDS1304.1																																																																																				PASS	0.567	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			18	59	18	59	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176709279	176709279	+	Silent	SNP	G	G	T	rs201994613	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:176709279G>T	ENST00000367662.3	+	14	5262	c.4098G>T	c.(4096-4098)tcG>tcT	p.S1366S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1366					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1366S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGGTCTTTCGGCTCCCAGTA	0.507																																						uc001gkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4096-4098)TCG>TCT		pappalysin 2 isoform 1							107.0	105.0	106.0					1																	176709279		2004	4175	6179	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709279G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4098G>T	1.37:g.176709279G>T						PAPPA2_uc009www.2_RNA	p.S1366S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5262	+			1366					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4098G>T	CCDS41438.1																																																																																				PASS	0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			22	64	22	64	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176903472	176903472	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:176903472G>A	ENST00000367654.3	-	16	2722	c.2511C>T	c.(2509-2511)ctC>ctT	p.L837L	ASTN1_ENST00000361833.2_Silent_p.L829L|ASTN1_ENST00000424564.2_Silent_p.L829L|ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000367657.3_Silent_p.L829L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	837					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.L829L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCATTGCTGAGGGCTATGG	0.522																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2485-2487)CTC>CTT		astrotactin isoform 1							65.0	59.0	61.0					1																	176903472		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903472G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2511C>T	1.37:g.176903472G>A						ASTN1_uc001glb.1_Silent_p.L829L|ASTN1_uc001gld.1_Silent_p.L829L	p.L829L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			16	2699	-			837					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2487C>T																																																																																					PASS	0.522	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		11	52	11	52	---	---	---	---
FAM20B	9917	broad.mit.edu	37	1	179019460	179019460	+	Missense_Mutation	SNP	G	G	A	rs202188103	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:179019460G>A	ENST00000263733.4	+	3	760	c.424G>A	c.(424-426)Gat>Aat	p.D142N		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	142						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.D142N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TGCTGGTTATGATAGACACAA	0.448																																						uc001gmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(424-426)GAT>AAT		hypothetical protein LOC9917 precursor							266.0	217.0	234.0					1																	179019460		2203	4300	6503	SO:0001583	missense	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179019460G>A	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.424G>A	1.37:g.179019460G>A	ENSP00000263733:p.Asp142Asn						p.D142N	NM_014864	NP_055679	O75063	XYLK_HUMAN			3	717	+			142			Lumenal (Potential).		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	c.424G>A	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571052	0.96553	.	.	ENSG00000116199	ENST00000263733	D	0.88741	-2.42	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	M	0.76838	2.35	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.93612	0.6940	9	.	.	.	-33.9927	20.139	0.98050	0.0:0.0:1.0:0.0	.	142	O75063	XYLK_HUMAN	N	142	ENSP00000263733:D142N	.	D	+	1	0	FAM20B	177286083	1.000000	0.71417	0.952000	0.39060	0.611000	0.37282	9.459000	0.97638	2.764000	0.94973	0.655000	0.94253	GAT		PASS	0.448	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		61	165	61	165	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179398712	179398712	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:179398712G>C	ENST00000367618.3	+	13	1677	c.1290G>C	c.(1288-1290)tgG>tgC	p.W430C	AXDND1_ENST00000457238.2_Missense_Mutation_p.W430C|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	430								p.W430C(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						AAAAAGGCTGGAATAAATACA	0.323																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)TGG>TGC		hypothetical protein LOC126859 isoform 1							60.0	60.0	60.0					1																	179398712		2203	4295	6498	SO:0001583	missense	126859							g.chr1:179398712G>C	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.1290G>C	1.37:g.179398712G>C	ENSP00000356590:p.Trp430Cys					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.W218C|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.W430C	p.W430C	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			13	1417	+			430					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1290G>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130442	0.56828	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.57907	1.56;0.37;1.66	4.99	4.99	0.66335	.	0.080163	0.53938	D	0.000045	T	0.70596	0.3242	M	0.72894	2.215	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	T	0.74262	-0.3722	10	0.87932	D	0	-5.1356	13.7829	0.63093	0.0:0.0:1.0:0.0	.	388;430;430	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	C	430;388;430;364	ENSP00000356590:W430C;ENSP00000416712:W430C;ENSP00000391716:W364C	ENSP00000353471:W388C	W	+	3	0	AXDND1	177665335	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.607000	0.61133	2.316000	0.78162	0.585000	0.79938	TGG		PASS	0.323	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		9	52	9	52	---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	224009057	224009057	+	Missense_Mutation	SNP	C	C	A	rs564908926		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:224009057C>A	ENST00000343537.7	-	2	331	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	8					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.V14L(2)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGAGATACACGGTAAGAAAC	0.413																																						uc010pvb.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(40-42)GTG>TTG		tumor protein p53 binding protein, 2 isoform 1							217.0	220.0	219.0					1																	224009057		1970	4176	6146	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:224009057C>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.40G>T	1.37:g.224009057C>A	ENSP00000341957:p.Val14Leu					TP53BP2_uc001hod.2_5'UTR	p.V14L	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	2	332	-			8					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.40G>T	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206003	0.95033	.	.	ENSG00000143514	ENST00000343537	T	0.59364	0.27	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.78799	0.4340	M	0.79926	2.475	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.80596	-0.1312	10	0.87932	D	0	.	19.9273	0.97107	0.0:1.0:0.0:0.0	.	14	B4DG66	.	L	14	ENSP00000341957:V14L	ENSP00000341957:V14L	V	-	1	0	TP53BP2	222075680	1.000000	0.71417	0.962000	0.40283	0.915000	0.54546	7.461000	0.80834	2.718000	0.92993	0.591000	0.81541	GTG		PASS	0.413	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		64	270	64	270	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226822451	226822451	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:226822451C>G	ENST00000272117.3	-	7	2761	c.2762G>C	c.(2761-2763)cGg>cCg	p.R921P	ITPKB_ENST00000429204.1_Missense_Mutation_p.R921P			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	921					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R921P(1)|p.R447P(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCATCCTCCCGGTTCCCCTC	0.632																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(2761-2763)CGG>CCG		1D-myo-inositol-trisphosphate 3-kinase B							78.0	63.0	68.0					1																	226822451		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226822451C>G	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2762G>C	1.37:g.226822451C>G	ENSP00000272117:p.Arg921Pro						p.R921P	NM_002221	NP_002212	P27987	IP3KB_HUMAN			8	3102	-		Prostate(94;0.0773)	921					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2762G>C	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151414	0.94645	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.13657	2.57;2.57	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.74546	2.27	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.24333	-1.0163	10	0.54805	T	0.06	-28.4709	18.4144	0.90563	0.0:1.0:0.0:0.0	.	921	P27987	IP3KB_HUMAN	P	921	ENSP00000272117:R921P;ENSP00000411152:R921P	ENSP00000272117:R921P	R	-	2	0	ITPKB	224889074	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.751000	0.85126	2.359000	0.80004	0.555000	0.69702	CGG		PASS	0.632	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		11	41	11	41	---	---	---	---
GUK1	2987	broad.mit.edu	37	1	228335335	228335335	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:228335335G>C	ENST00000366718.1	+	6	837	c.410G>C	c.(409-411)cGc>cCc	p.R137P	GUK1_ENST00000391865.3_Missense_Mutation_p.R158P|GUK1_ENST00000312726.4_Missense_Mutation_p.R137P|GUK1_ENST00000366728.2_Missense_Mutation_p.R158P|GUK1_ENST00000366722.1_Missense_Mutation_p.R135P|GUK1_ENST00000366730.1_Missense_Mutation_p.R137P|GUK1_ENST00000366716.1_Missense_Mutation_p.R137P|GUK1_ENST00000366726.1_Missense_Mutation_p.R137P|GUK1_ENST00000366723.1_Missense_Mutation_p.R158P|GUK1_ENST00000470040.1_Intron|GUK1_ENST00000366721.1_Missense_Mutation_p.R139P|GJC2_ENST00000366714.2_5'Flank	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	137	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.R137P(1)|p.R203P(1)		endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CTGCGGCAGCGCAACACTGAA	0.657																																						uc001hsh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(409-411)CGC>CCC		guanylate kinase 1 isoform b							41.0	46.0	44.0					1																	228335335		2203	4300	6503	SO:0001583	missense	2987				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	g.chr1:228335335G>C	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.410G>C	1.37:g.228335335G>C	ENSP00000355679:p.Arg137Pro					GUK1_uc001hsi.2_Missense_Mutation_p.R158P|GUK1_uc001hsj.2_Missense_Mutation_p.R77P|GUK1_uc010pvv.1_Missense_Mutation_p.R137P|GJC2_uc001hsk.2_5'Flank	p.R137P	NM_000858	NP_000849	Q16774	KGUA_HUMAN			7	713	+		Prostate(94;0.0405)	137			Guanylate kinase-like.		B1ANH1	Missense_Mutation	SNP	ENST00000366718.1	37	c.410G>C	CCDS1568.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297365	0.81025	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000366722;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;1.89;0.59;1.89;0.59;0.59;0.59;0.59;0.59;0.59	4.87	4.87	0.63330	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89167	0.3534	10	0.87932	D	0	.	15.9823	0.80121	0.0:0.0:1.0:0.0	.	158;137	B4E1H6;Q16774	.;KGUA_HUMAN	P	137;158;137;137;158;158;158;135;203;139;203;137;137;140	ENSP00000355691:R137P;ENSP00000375738:R158P;ENSP00000355687:R137P;ENSP00000317659:R137P;ENSP00000355689:R158P;ENSP00000401832:R158P;ENSP00000355684:R158P;ENSP00000355683:R135P;ENSP00000403664:R203P;ENSP00000355682:R139P;ENSP00000407604:R203P;ENSP00000355679:R137P;ENSP00000355677:R137P	ENSP00000317659:R137P	R	+	2	0	GUK1	226401958	0.862000	0.29867	0.997000	0.53966	0.666000	0.39218	2.914000	0.48797	2.518000	0.84900	0.563000	0.77884	CGC		PASS	0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858		13	38	13	38	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237794791	237794791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:237794791G>T	ENST00000366574.2	+	42	6822	c.6505G>T	c.(6505-6507)Gag>Tag	p.E2169*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E2153*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E2167*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2169	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E2167*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGGATGCACGAGACTGTGAT	0.458																																						uc001hyl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6505-6507)GAG>TAG		cardiac muscle ryanodine receptor							108.0	114.0	112.0					1																	237794791		2036	4235	6271	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794791G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6505G>T	1.37:g.237794791G>T	ENSP00000355533:p.Glu2169*						p.E2169*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6625	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2169			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.6505G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	48	14.840505	0.99812	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.0656	19.6027	0.95569	0.0:0.0:1.0:0.0	.	.	.	.	X	2169;2167;2153	.	ENSP00000353174:E2167X	E	+	1	0	RYR2	235861414	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	9.813000	0.99286	2.703000	0.92315	0.650000	0.86243	GAG		PASS	0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	25	6	25	---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246498753	246498753	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:246498753C>T	ENST00000388985.4	-	3	251	c.252G>A	c.(250-252)aaG>aaA	p.K84K	SMYD3_ENST00000490107.1_Silent_p.K25K|SMYD3_ENST00000403792.3_Silent_p.K84K|SMYD3_ENST00000541742.1_Silent_p.K25K			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	84	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.K84K(1)|p.K25K(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)		TGCATTCCCGCTTGTGGTCTG	0.398																																						uc001ibl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(250-252)AAG>AAA		SET and MYND domain containing 3							140.0	143.0	142.0					1																	246498753		2203	4300	6503	SO:0001819	synonymous_variant	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246498753C>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.252G>A	1.37:g.246498753C>T						SMYD3_uc001ibk.2_Silent_p.K25K	p.K84K	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)	3	347	-	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)	84			MYND-type.		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	ENST00000388985.4	37	c.252G>A	CCDS53486.1																																																																																				PASS	0.398	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		29	177	29	177	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247695727	247695727	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr1:247695727G>A	ENST00000366487.3	-	2	448	c.87C>T	c.(85-87)ttC>ttT	p.F29F	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28F(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGACAACTATGAAGAGGACAG	0.463																																						uc009xgy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(85-87)TTC>TTT		olfactory receptor, family 2, subfamily C,							117.0	104.0	109.0					1																	247695727		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695727G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.87C>T	1.37:g.247695727G>A						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.F29F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	449	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	29			Helical; Name=1; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.87C>T	CCDS1634.2																																																																																				PASS	0.463	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		31	71	31	71	---	---	---	---
SNX17	9784	broad.mit.edu	37	2	27596776	27596776	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:27596776A>T	ENST00000233575.2	+	5	592	c.370A>T	c.(370-372)Agc>Tgc	p.S124C	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.S99C|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	124	FERM-like.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.S124C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGCTGCTCAGCAACGGGCA	0.557																																						uc002rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)AGC>TGC		sorting nexin 17							122.0	104.0	110.0					2																	27596776		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27596776A>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.370A>T	2.37:g.27596776A>T	ENSP00000233575:p.Ser124Cys					SNX17_uc010ylj.1_Missense_Mutation_p.S104C|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Missense_Mutation_p.S112C|SNX17_uc010ylo.1_Missense_Mutation_p.S42C|SNX17_uc010ylp.1_Missense_Mutation_p.S99C|SNX17_uc010ylq.1_5'UTR	p.S124C	NM_014748	NP_055563	Q15036	SNX17_HUMAN			5	592	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		124			Ras-associating.		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.370A>T	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702468	0.48307	.	.	ENSG00000115234	ENST00000233575;ENST00000537606	T;T	0.75477	-0.94;-0.94	5.2	5.2	0.72013	Ras-association (1);	0.237664	0.50627	D	0.000111	T	0.67050	0.2852	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.12630	0.004;0.001;0.001;0.006	B;B;B;B	0.09377	0.004;0.001;0.001;0.003	T	0.65199	-0.6226	10	0.49607	T	0.09	-12.4597	8.2374	0.31634	0.7315:0.0:0.0:0.2685	.	99;112;104;124	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	C	124;99	ENSP00000233575:S124C;ENSP00000439208:S99C	ENSP00000233575:S124C	S	+	1	0	SNX17	27450280	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.550000	0.60733	2.183000	0.69458	0.459000	0.35465	AGC		PASS	0.557	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		7	41	7	41	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28741349	28741349	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:28741349C>T	ENST00000327757.5	+	3	178	c.134C>T	c.(133-135)cCa>cTa	p.P45L	PLB1_ENST00000422425.2_Missense_Mutation_p.P45L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	45	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.P45L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AAGAATTCTCCATTCCCATGC	0.408																																						uc002rmb.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(133-135)CCA>CTA		phospholipase B1 precursor							158.0	147.0	151.0					2																	28741349		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28741349C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.134C>T	2.37:g.28741349C>T	ENSP00000330442:p.Pro45Leu					PLB1_uc010ezj.1_Missense_Mutation_p.P45L	p.P45L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			3	134	+	Acute lymphoblastic leukemia(172;0.155)		45			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.134C>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.772|9.772	1.172866|1.172866	0.21704|0.21704	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425	.|T;T	.|0.14022	.|2.64;2.54	5.68|5.68	2.93|2.93	0.34026|0.34026	.|.	.|0.429365	.|0.22087	.|N	.|0.064806	T|T	0.08133|0.08133	0.0203|0.0203	N|N	0.13003|0.13003	0.285|0.285	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.17268	.|0.021;0.001	.|B;B	.|0.13407	.|0.009;0.0	T|T	0.27706|0.27706	-1.0066|-1.0066	5|10	.|0.87932	.|D	.|0	-0.1739|-0.1739	8.3186|8.3186	0.32115|0.32115	0.0:0.7586:0.0:0.2414|0.0:0.7586:0.0:0.2414	.|.	.|45;45	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	Y|L	44|45	.|ENSP00000330442:P45L;ENSP00000416440:P45L	.|ENSP00000330442:P45L	H|P	+|+	1|2	0|0	PLB1|PLB1	28594853|28594853	0.585000|0.585000	0.26774|0.26774	0.000000|0.000000	0.03702|0.03702	0.031000|0.031000	0.12232|0.12232	0.728000|0.728000	0.26013|0.26013	0.434000|0.434000	0.26340|0.26340	0.655000|0.655000	0.94253|0.94253	CAT|CCA		PASS	0.408	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			45	95	45	95	---	---	---	---
EHD3	30845	broad.mit.edu	37	2	31472300	31472300	+	Silent	SNP	G	G	A	rs138864640		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:31472300G>A	ENST00000322054.5	+	3	753	c.468G>A	c.(466-468)ggG>ggA	p.G156G	EHD3_ENST00000541626.1_Silent_p.G156G	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	156	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.G156G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACACACCAGGGATCCTCTCTG	0.592																																						uc002rnu.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(466-468)GGG>GGA		EH-domain containing 3							111.0	94.0	100.0					2																	31472300		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31472300G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.468G>A	2.37:g.31472300G>A						EHD3_uc010ymt.1_Silent_p.G156G	p.G156G	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			3	1076	+	Acute lymphoblastic leukemia(172;0.155)		156					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.468G>A	CCDS1774.1																																																																																				PASS	0.592	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		15	56	15	56	---	---	---	---
GGCX	2677	broad.mit.edu	37	2	85780514	85780514	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:85780514G>A	ENST00000233838.4	-	8	1076	c.996C>T	c.(994-996)ccC>ccT	p.P332P	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.P275P	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	332					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.P332P(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CTGCCTTGAGGGGCAACAGTT	0.617																																						uc002sps.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(994-996)CCC>CCT		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						60.0	66.0	64.0					2																	85780514		2203	4300	6503	SO:0001819	synonymous_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85780514G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.996C>T	2.37:g.85780514G>A						GGCX_uc010yss.1_Silent_p.P171P|GGCX_uc010yst.1_Silent_p.P275P	p.P332P	NM_000821	NP_000812	P38435	VKGC_HUMAN			8	1102	-			332			Cytoplasmic (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	ENST00000233838.4	37	c.996C>T	CCDS1978.1																																																																																				PASS	0.617	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		25	123	25	123	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98846666	98846666	+	Missense_Mutation	SNP	C	C	A	rs377557539		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:98846666C>A	ENST00000477737.1	+	16	2508	c.2304C>A	c.(2302-2304)caC>caA	p.H768Q		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	768								p.H768Q(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGTCCTTCACGCAGGTATCA	0.383																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(2302-2304)CAC>CAA		von Willebrand factor A domain containing 3B							78.0	70.0	72.0					2																	98846666		1833	4094	5927	SO:0001583	missense	200403							g.chr2:98846666C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2304C>A	2.37:g.98846666C>A	ENSP00000417955:p.His768Gln					VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.H287Q|VWA3B_uc002sym.2_Missense_Mutation_p.H768Q|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.H425Q|VWA3B_uc002syp.1_Missense_Mutation_p.H160Q|VWA3B_uc002syq.1_Missense_Mutation_p.H44Q|VWA3B_uc002syr.1_Missense_Mutation_p.H85Q	p.H768Q	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			16	2568	+			768					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2304C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.907|7.907	0.735655|0.735655	0.15574|0.15574	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.05513|.	3.43|.	4.43|4.43	-4.54|-4.54	0.03452|0.03452	.|.	0.944603|.	0.08832|.	N|.	0.887098|.	T|T	0.56016|0.56016	0.1957|0.1957	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;P;P;D|.	0.76494|.	0.986;0.811;0.812;0.999|.	P;B;B;D|.	0.72982|.	0.785;0.231;0.299;0.979|.	T|T	0.57335|0.57335	-0.7829|-0.7829	10|5	0.42905|.	T|.	0.14|.	.|.	9.7169|9.7169	0.40281|0.40281	0.0:0.3504:0.0:0.6496|0.0:0.3504:0.0:0.6496	.|.	160;768;768;768|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	Q|S	768|179	ENSP00000417955:H768Q|.	ENSP00000417955:H768Q|.	H|R	+|+	3|1	2|0	VWA3B|VWA3B	98213098|98213098	0.026000|0.026000	0.19158|0.19158	0.982000|0.982000	0.44146|0.44146	0.772000|0.772000	0.43724|0.43724	-2.648000|-2.648000	0.00859|0.00859	-0.762000|-0.762000	0.04664|0.04664	-0.658000|-0.658000	0.03865|0.03865	CAC|CGC		PASS	0.383	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		11	62	11	62	---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111598951	111598951	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:111598951G>C	ENST00000389811.4	+	10	981	c.757G>C	c.(757-759)Ggg>Cgg	p.G253R	ACOXL_ENST00000439055.1_Missense_Mutation_p.G253R|ACOXL_ENST00000340561.4_Missense_Mutation_p.G253R			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	253					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.G253R(2)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATTACAGCTTGGGTTGACGAT	0.313																																						uc002tgr.3																			2	Substitution - Missense(2)		lung(2)		0						c.(757-759)GGG>CGG		acyl-Coenzyme A oxidase-like 2							148.0	140.0	142.0					2																	111598951		2202	4299	6501	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111598951G>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.757G>C	2.37:g.111598951G>C	ENSP00000374461:p.Gly253Arg					ACOXL_uc010fkc.2_Missense_Mutation_p.G253R|ACOXL_uc010yxk.1_Missense_Mutation_p.G253R	p.G253R	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			10	981	+			253					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.757G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.39|15.39	2.818314|2.818314	0.50633|0.50633	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074|ENST00000433706	T;T;T;T|T	0.70399|0.70631	-0.48;-0.48;-0.48;-0.48|-0.5	5.1|5.1	5.1|5.1	0.69264|0.69264	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.82829|0.82829	0.5122|0.5122	M|M	0.87269|0.87269	2.87|2.87	0.45129|0.45129	D|D	0.998143|0.998143	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	1.0;1.0;0.992|.	T|T	0.82542|0.82542	-0.0405|-0.0405	10|7	0.87932|0.33141	D|T	0|0.24	-32.3671|-32.3671	14.3565|14.3565	0.66740|0.66740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	253;253;253|.	E9PB20;Q9NUZ1-2;Q9NUZ1|.	.;.;ACOXL_HUMAN|.	R|F	253;253;104;253;91|27	ENSP00000374461:G253R;ENSP00000407761:G253R;ENSP00000343717:G253R;ENSP00000387832:G91R|ENSP00000406774:L27F	ENSP00000343717:G253R|ENSP00000406774:L27F	G|L	+|+	1|3	0|2	ACOXL|ACOXL	111315422|111315422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.258000|0.258000	0.26162|0.26162	4.283000|4.283000	0.58977|0.58977	2.539000|2.539000	0.85634|0.85634	0.655000|0.655000	0.94253|0.94253	GGG|TTG		PASS	0.313	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		5	32	5	32	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116593772	116593772	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:116593772G>T	ENST00000410059.1	+	22	2470	c.1990G>T	c.(1990-1992)Gat>Tat	p.D664Y	DPP10_ENST00000409163.1_Missense_Mutation_p.D614Y|DPP10_ENST00000393147.2_Missense_Mutation_p.D668Y|DPP10_ENST00000310323.8_Missense_Mutation_p.D657Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	664						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.D664Y(1)|p.D657Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTTAAAATCAGATGAAAAGCT	0.343																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1990-1992)GAT>TAT		dipeptidyl peptidase 10 isoform long							86.0	84.0	85.0					2																	116593772		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593772G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1990G>T	2.37:g.116593772G>T	ENSP00000386565:p.Asp664Tyr					DPP10_uc002tlb.1_Missense_Mutation_p.D614Y|DPP10_uc002tlc.1_Missense_Mutation_p.D660Y|DPP10_uc002tle.2_Missense_Mutation_p.D668Y|DPP10_uc002tlf.1_Missense_Mutation_p.D657Y	p.D664Y	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			22	2447	+			664			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1990G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805326	0.50315	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.67	5.67	0.87782	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.175003	0.49305	D	0.000150	T	0.32526	0.0832	L	0.33485	1.01	0.33385	D	0.575322	P;P;P;P	0.49253	0.587;0.921;0.64;0.64	B;P;P;P	0.52109	0.424;0.69;0.56;0.56	T	0.47799	-0.9089	10	0.66056	D	0.02	-7.0472	8.31	0.32066	0.1667:0.0:0.8333:0.0	.	657;668;660;664	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Y	664;614;668;657	ENSP00000386565:D664Y;ENSP00000387038:D614Y;ENSP00000376855:D668Y;ENSP00000309066:D657Y	ENSP00000309066:D657Y	D	+	1	0	DPP10	116310242	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.204000	0.58460	2.649000	0.89929	0.655000	0.94253	GAT		PASS	0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		11	57	11	57	---	---	---	---
SCTR	6344	broad.mit.edu	37	2	120194538	120194538	+	IGR	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:120194538C>T	ENST00000019103.5	-	0	1865				TMEM37_ENST00000306406.4_Missense_Mutation_p.T32M|TMEM37_ENST00000409826.1_Missense_Mutation_p.T44M|TMEM37_ENST00000465296.1_3'UTR	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.T32M(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTCATCATCACGTGTGTGGCC	0.612																																						uc002tly.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(94-96)ACG>ATG		transmembrane protein 37							90.0	88.0	89.0					2																	120194538		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194538C>T		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194538C>T							p.T32M	NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN			2	129	+			32			Helical; (Potential).		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.95C>T	CCDS2127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.33|10.33	1.319029|1.319029	0.23994|0.23994	.|.	.|.	ENSG00000171227|ENSG00000171227	ENST00000417645|ENST00000409826;ENST00000306406	.|.	.|.	.|.	4.93|4.93	-0.355|-0.355	0.12587|0.12587	.|.	.|1.606890	.|0.03934	.|N	.|0.285853	T|T	0.30727|0.30727	0.0774|0.0774	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.26258	.|0.145	.|B	.|0.14023	.|0.01	T|T	0.29912|0.29912	-0.9996|-0.9996	6|9	0.87932|0.46703	D|T	0|0.11	-0.012|-0.012	10.4823|10.4823	0.44700|0.44700	0.0:0.1228:0.0:0.8772|0.0:0.1228:0.0:0.8772	.|.	.|32	.|Q8WXS4	.|CCGL_HUMAN	C|M	38|44;32	.|.	ENSP00000400770:R38C|ENSP00000303148:T32M	R|T	+|+	1|2	0|0	TMEM37|TMEM37	119911008|119911008	0.975000|0.975000	0.34042|0.34042	0.001000|0.001000	0.08648|0.08648	0.846000|0.846000	0.48090|0.48090	2.647000|2.647000	0.46639|0.46639	-0.204000|-0.204000	0.10235|0.10235	0.655000|0.655000	0.94253|0.94253	CGT|ACG		PASS	0.612	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			27	124	27	124	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976176	131976176	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:131976176C>T	ENST00000356920.5	+	1	295	c.201C>T	c.(199-201)caC>caT	p.H67H	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.H67H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	67					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H67H(2)									GGTGCCACCACTGCTTCCCCT	0.582																																						uc002tsn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(199-201)CAC>CAT		protein expressed in prostate, ovary, testis,							175.0	168.0	170.0					2																	131976176		2203	4300	6503	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976176C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.201C>T	2.37:g.131976176C>T						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.H67H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	253	+			67					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.201C>T	CCDS46414.1																																																																																				PASS	0.582	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		58	222	58	222	---	---	---	---
CCDC74A	90557	broad.mit.edu	37	2	132288288	132288288	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:132288288G>T	ENST00000295171.6	+	3	570	c.432G>T	c.(430-432)agG>agT	p.R144S	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.R246S	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	144								p.R144S(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGACACACAGGCCAGGAGGCA	0.652																																						uc002tta.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(430-432)AGG>AGT		coiled-coil domain containing 74A							94.0	89.0	91.0					2																	132288288		2202	4298	6500	SO:0001583	missense	90557							g.chr2:132288288G>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.432G>T	2.37:g.132288288G>T	ENSP00000295171:p.Arg144Ser					CCDC74A_uc002ttb.2_Intron	p.R144S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			3	484	+			144					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.432G>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	8.799	0.932462	0.18131	.	.	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.52057	1.77;0.68	2.01	-0.411	0.12370	.	0.543959	0.13265	U	0.400985	T	0.37785	0.1016	L	0.38175	1.15	0.09310	N	1	P	0.51449	0.945	P	0.54965	0.765	T	0.32981	-0.9886	10	0.06365	T	0.9	.	2.1806	0.03873	0.203:0.0:0.4958:0.3011	.	144	Q96AQ1	CC74A_HUMAN	S	144;246	ENSP00000295171:R144S;ENSP00000444610:R246S	ENSP00000295171:R144S	R	+	3	2	CCDC74A	132004758	0.001000	0.12720	0.002000	0.10522	0.138000	0.21146	0.039000	0.13884	0.174000	0.19809	0.194000	0.17425	AGG		PASS	0.652	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		13	117	13	117	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163059422	163059422	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:163059422A>G	ENST00000188790.4	-	14	1390	c.1183T>C	c.(1183-1185)Tgg>Cgg	p.W395R	FAP_ENST00000443424.1_Missense_Mutation_p.W370R	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.W395R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATGGCCTCCCACTTGCCACTT	0.373																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1183-1185)TGG>CGG		fibroblast activation protein, alpha subunit							146.0	134.0	138.0					2																	163059422		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163059422A>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1183T>C	2.37:g.163059422A>G	ENSP00000188790:p.Trp395Arg					FAP_uc010zct.1_Missense_Mutation_p.W370R|FAP_uc010fpd.2_Intron	p.W395R	NM_004460	NP_004451	Q12884	SEPR_HUMAN			14	1391	-			395			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1183T>C	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.031162	0.75504	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.45668	0.89;0.89	5.91	5.91	0.95273	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.91354	3.2	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79507	-0.1775	10	0.87932	D	0	-18.4935	16.3469	0.83138	1.0:0.0:0.0:0.0	.	370;395	B4DLR2;Q12884	.;SEPR_HUMAN	R	395;370	ENSP00000188790:W395R;ENSP00000411391:W370R	ENSP00000188790:W395R	W	-	1	0	FAP	162767668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.871000	0.75531	2.263000	0.75096	0.528000	0.53228	TGG		PASS	0.373	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			26	138	26	138	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099528	168099528	+	Silent	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:168099528C>A	ENST00000409195.1	+	9	1715	c.1626C>A	c.(1624-1626)gcC>gcA	p.A542A	XIRP2_ENST00000409273.1_Silent_p.A320A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.A542A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	367					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A542A(1)|p.(=)(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCAACAAGCCCGGTATGTTT	0.368																																						uc002udx.2																			2	Unknown(1)|Substitution - coding silent(1)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(1624-1626)GCC>GCA		xin actin-binding repeat containing 2 isoform 1							37.0	34.0	35.0					2																	168099528		1841	4097	5938	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099528C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1626C>A	2.37:g.168099528C>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.A367A|XIRP2_uc010fpq.2_Silent_p.A320A|XIRP2_uc010fpr.2_Intron	p.A542A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1644	+			367			Xin 1.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.1626C>A	CCDS42769.1																																																																																				PASS	0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	48	12	48	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179517248	179517248	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:179517248C>T	ENST00000591111.1	-	157	34767	c.34543G>A	c.(34543-34545)Gtt>Att	p.V11515I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13022I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10588I|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11487	Glu-rich.|Pro-rich.				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.V10588I(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)			TCAGGAACAACTTCTTTCGGA	0.368																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(31762-31764)GTT>ATT		titin isoform N2-A							86.0	94.0	91.0					2																	179517248		1810	4067	5877	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179517248C>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.34543G>A	2.37:g.179517248C>T	ENSP00000465570:p.Val11515Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	p.V10588I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		156	31986	-			11515					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.31762G>A		.	.	.	.	.	.	.	.	.	.	C	12.64	1.997943	0.35226	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.32	4.45	0.53987	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54303	0.1850	L	0.38175	1.15	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.50474	-0.8824	9	0.87932	D	0	.	6.0816	0.19944	0.1381:0.6555:0.1335:0.0729	.	11515	Q8WZ42	TITIN_HUMAN	I	10588	ENSP00000343764:V10588I	ENSP00000343764:V10588I	V	-	1	0	TTN	179225493	0.000000	0.05858	0.986000	0.45419	0.943000	0.58893	0.295000	0.19065	1.264000	0.44198	0.644000	0.83932	GTT		PASS	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	99	15	99	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207175031	207175032	+	Missense_Mutation	DNP	CC	CC	AA	rs200920419	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:207175031_207175032CC>AA	ENST00000374423.3	+	5	6165_6166	c.5779_5780CC>AA	c.(5779-5781)CCt>AAt	p.P1927N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1927							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P1927N(2)|p.P1927T(2)|p.P1927H(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAGAGGCCTCCTAAGCAAAAG	0.441																																						uc002vbp.2																			6	Substitution - Missense(6)		lung(6)	ovary(3)	3						c.(5779-5781)CCT>ACT|c.(5779-5781)CCT>CAT		zinc finger, DBF-type containing 2																																				SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175031C>A|g.chr2:207175032C>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	Exception_encountered	2.37:g.207175031_207175032delinsAA	ENSP00000363545:p.Pro1927Asn						p.P1927T|p.P1927H	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	6029|6030	+			1927					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5779C>A|c.5780C>A	CCDS46501.1																																																																																				PASS	0.441	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		20	64|66	20	64	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209324667	209324667	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:209324667C>T	ENST00000272847.2	+	9	1175	c.962C>T	c.(961-963)cCg>cTg	p.P321L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	321					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.P321L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TATCAAGCACCGATCTTAGCA	0.388																																						uc002vdb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(961-963)CCG>CTG		parathyroid hormone 2 receptor precursor							135.0	139.0	138.0					2																	209324667		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209324667C>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.962C>T	2.37:g.209324667C>T	ENSP00000272847:p.Pro321Leu					PTH2R_uc010zjb.1_Missense_Mutation_p.P332L	p.P321L	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	9	1175	+			321			Helical; Name=5; (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.962C>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824614	0.71143	.	.	ENSG00000144407	ENST00000272847	T	0.60171	0.21	5.7	4.83	0.62350	GPCR, family 2-like (1);	0.306760	0.23141	N	0.051464	T	0.80341	0.4605	M	0.94021	3.485	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.83892	0.0285	10	0.87932	D	0	.	10.6475	0.45628	0.0:0.9121:0.0:0.0879	.	210;321	B4DFN8;P49190	.;PTH2R_HUMAN	L	321	ENSP00000272847:P321L	ENSP00000272847:P321L	P	+	2	0	PTH2R	209032912	0.999000	0.42202	0.996000	0.52242	0.992000	0.81027	5.695000	0.68279	1.422000	0.47177	0.561000	0.74099	CCG		PASS	0.388	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		7	177	7	177	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225346608	225346608	+	Splice_Site	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:225346608C>T	ENST00000264414.4	-	14	2368		c.e14+1		CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTCCAGATACCTGTTTGAAT	0.269																																						uc002vny.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.e14+1		cullin 3							93.0	92.0	92.0					2																	225346608		2203	4300	6503	SO:0001630	splice_region_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225346608C>T	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2029+1G>A	2.37:g.225346608C>T						CUL3_uc010zls.1_Splice_Site_p.V611_splice|CUL3_uc010fwy.1_Splice_Site_p.V683_splice	p.V677_splice	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	14	2413	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)						A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37	c.2029_splice	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668542	0.88348	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225054852	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.753000	0.94483	0.655000	0.94253	.		PASS	0.269	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Intron	24	119	24	119	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225376227	225376227	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:225376227C>T	ENST00000264414.4	-	6	1065	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	CUL3_ENST00000409777.1_Missense_Mutation_p.E219K|CUL3_ENST00000344951.4_Missense_Mutation_p.E177K|CUL3_ENST00000409096.1_Missense_Mutation_p.E219K|CUL3_ENST00000432260.2_5'Flank	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	243					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.E243K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCTATTTCTTCATTAATTCTA	0.323																																						uc002vny.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(727-729)GAA>AAA		cullin 3							179.0	174.0	176.0					2																	225376227		2203	4299	6502	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225376227C>T	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.727G>A	2.37:g.225376227C>T	ENSP00000264414:p.Glu243Lys					CUL3_uc010zls.1_Missense_Mutation_p.E177K|CUL3_uc010fwy.1_Missense_Mutation_p.E249K	p.E243K	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1111	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	243					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.727G>A	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569081	0.96540	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.64	5.64	0.86602	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.91972	3.26	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.67725	0.921;0.953;0.953	T	0.74917	-0.3501	10	0.62326	D	0.03	.	20.0627	0.97684	0.0:1.0:0.0:0.0	.	177;221;243	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	K	243;177;219;219	ENSP00000264414:E243K;ENSP00000343601:E177K;ENSP00000387200:E219K;ENSP00000386525:E219K	ENSP00000264414:E243K	E	-	1	0	CUL3	225084471	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.730000	0.68546	2.807000	0.96579	0.591000	0.81541	GAA		PASS	0.323	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			26	163	26	163	---	---	---	---
PDCD1	5133	broad.mit.edu	37	2	242795003	242795003	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr2:242795003C>T	ENST00000334409.5	-	2	275	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	69	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.R69H(1)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGGGCTCATGCGGTACCAGTT	0.637																																						uc002wcq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)CGC>CAC		programmed cell death 1 precursor							67.0	60.0	63.0					2																	242795003		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242795003C>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.206G>A	2.37:g.242795003C>T	ENSP00000335062:p.Arg69His					PDCD1_uc010fzs.2_5'UTR|PDCD1_uc010fzt.2_Intron	p.R69H	NM_005018	NP_005009	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	274	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	69			Ig-like V-type.|Extracellular (Potential).		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.206G>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.199529	0.79015	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.70749	-0.51	3.53	3.53	0.40419	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.132994	0.36338	N	0.002647	T	0.82259	0.4998	M	0.81942	2.565	0.32657	N	0.518626	D	0.89917	1.0	D	0.91635	0.999	D	0.85031	0.0917	10	0.51188	T	0.08	-41.1185	10.8717	0.46887	0.0:1.0:0.0:0.0	.	69	Q15116	PDCD1_HUMAN	H	69	ENSP00000335062:R69H	ENSP00000335062:R69H	R	-	2	0	PDCD1	242443676	0.396000	0.25262	0.935000	0.37517	0.990000	0.78478	0.396000	0.20867	2.268000	0.75426	0.556000	0.70494	CGC		PASS	0.637	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		8	32	8	32	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113761550	113761550	+	Splice_Site	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr3:113761550C>A	ENST00000295878.3	-	4	561	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'Flank	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	139								p.D139Y(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAGTTCTTACCATCAAACTTG	0.318																																						uc003eax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(415-417)GAT>TAT		hypothetical protein LOC57577							118.0	103.0	108.0					3																	113761550		2203	4300	6503	SO:0001630	splice_region_variant	57577							g.chr3:113761550C>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.415+1G>T	3.37:g.113761550C>A						KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.D117Y|KIAA1407_uc011bip.1_Missense_Mutation_p.D126Y	p.D139Y	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			4	562	-			139					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.415G>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193782	0.78902	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.54071	1.21;0.59	4.56	4.56	0.56223	.	0.056870	0.64402	D	0.000002	T	0.67353	0.2884	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.70935	0.961;0.971;0.958	T	0.66316	-0.5954	9	.	.	.	.	17.4617	0.87621	0.0:1.0:0.0:0.0	.	126;15;139	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	Y	139;126;103	ENSP00000295878:D139Y;ENSP00000418099:D126Y	.	D	-	1	0	KIAA1407	115244240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.949000	0.63596	2.526000	0.85167	0.591000	0.81541	GAT		PASS	0.318	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	Missense_Mutation	9	73	9	73	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955592	113955592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr3:113955592G>T	ENST00000482457.2	-	1	833	c.330C>A	c.(328-330)tgC>tgA	p.C110*	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	110					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.C110*(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AGACCTTCCCGCACTCCACGC	0.547																																					GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(328-330)TGC>TGA		zinc finger protein 80							60.0	53.0	55.0					3																	113955592		2203	4300	6503	SO:0001587	stop_gained	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955592G>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.330C>A	3.37:g.113955592G>T	ENSP00000417192:p.Cys110*					ZNF80_uc003ebf.2_RNA	p.C110*	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	834	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	110			C2H2-type 3; atypical.		Q6NSW4|Q6NT14	Nonsense_Mutation	SNP	ENST00000482457.2	37	c.330C>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	37	6.224362	0.97390	.	.	ENSG00000174255	ENST00000482457	.	.	.	3.07	-1.6	0.08426	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3055	0.10944	0.6074:0.1724:0.2201:0.0	.	.	.	.	X	110	.	ENSP00000309812:C110X	C	-	3	2	ZNF80	115438282	0.002000	0.14202	0.014000	0.15608	0.204000	0.24138	-0.495000	0.06443	-0.220000	0.09988	-0.290000	0.09829	TGC		PASS	0.547	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		10	32	10	32	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119133421	119133421	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr3:119133421T>G	ENST00000264245.4	+	12	3177	c.2645T>G	c.(2644-2646)gTa>gGa	p.V882G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	882					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.V882G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACCCATTCAGTACAGGAGCCT	0.542																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2644-2646)GTA>GGA		Cdc42 GTPase-activating protein							106.0	109.0	108.0					3																	119133421		2066	4215	6281	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133421T>G		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2645T>G	3.37:g.119133421T>G	ENSP00000264245:p.Val882Gly						p.V882G	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3177	+			882					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2645T>G	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	T	7.806	0.714669	0.15306	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06768	3.26	4.66	-0.367	0.12541	.	1.102600	0.06910	N	0.807524	T	0.07413	0.0187	L	0.27053	0.805	0.09310	N	1	B	0.24823	0.112	B	0.25140	0.058	T	0.43798	-0.9369	10	0.87932	D	0	.	8.8918	0.35439	0.0:0.5385:0.0:0.4615	.	882	Q2M1Z3	RHG31_HUMAN	G	882	ENSP00000264245:V882G	ENSP00000264245:V882G	V	+	2	0	ARHGAP31	120616111	0.000000	0.05858	0.004000	0.12327	0.733000	0.41908	0.290000	0.18975	-0.218000	0.10018	0.459000	0.35465	GTA		PASS	0.542	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			31	117	31	117	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124209608	124209608	+	Silent	SNP	G	G	T	rs139928910		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr3:124209608G>T	ENST00000240874.3	+	30	4615	c.4458G>T	c.(4456-4458)ccG>ccT	p.P1486P	KALRN_ENST00000460856.1_Silent_p.P1477P|KALRN_ENST00000360013.3_Silent_p.P1486P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1486	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1486P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGGGACCCGAAGTCGCTGA	0.507																																						uc003ehg.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4456-4458)CCG>CCT		kalirin, RhoGEF kinase isoform 1							76.0	82.0	80.0					3																	124209608		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124209608G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4458G>T	3.37:g.124209608G>T						KALRN_uc010hrv.1_Silent_p.P1477P|KALRN_uc003ehf.1_Silent_p.P1486P|KALRN_uc011bjy.1_Silent_p.P1477P	p.P1486P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			30	4585	+			1486			PH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.4458G>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570743	0.13560	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.28	-10.6	0.00265	.	.	.	.	.	T	0.55909	0.1950	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67499	-0.5655	4	.	.	.	.	13.1754	0.59624	0.3729:0.5118:0.1153:0.0	.	.	.	.	L	1455	.	.	R	+	2	0	KALRN	125692298	0.553000	0.26513	0.356000	0.25785	0.973000	0.67179	-0.116000	0.10724	-2.168000	0.00778	-1.358000	0.01219	CGA		PASS	0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		22	111	22	111	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132423171	132423171	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr3:132423171C>G	ENST00000337331.5	-	9	1481	c.1395G>C	c.(1393-1395)ttG>ttC	p.L465F	NPHP3_ENST00000326682.8_Missense_Mutation_p.L465F|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	465					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.L465F(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCACTGCCCAAATCCTTAG	0.388																																						uc003epe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1393-1395)TTG>TTC		nephrocystin 3							235.0	245.0	241.0					3																	132423171		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423171C>G	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1395G>C	3.37:g.132423171C>G	ENSP00000338766:p.Leu465Phe					NPHP3_uc003epf.1_Missense_Mutation_p.L220F	p.L465F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			9	1472	-			465					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.1395G>C	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	4.923	0.171520	0.09391	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91843	-2.92;-2.8	5.77	4.68	0.58851	.	0.919419	0.09485	N	0.795847	D	0.85465	0.5703	L	0.36672	1.1	0.20307	N	0.999917	B	0.34103	0.437	B	0.29942	0.109	T	0.73199	-0.4058	10	0.10377	T	0.69	-0.0023	9.3376	0.38060	0.0:0.8346:0.0:0.1654	.	465	Q7Z494	NPHP3_HUMAN	F	465	ENSP00000319909:L465F;ENSP00000338766:L465F	ENSP00000319909:L465F	L	-	3	2	NPHP3	133905861	0.059000	0.20769	0.269000	0.24586	0.881000	0.50899	-0.101000	0.10973	2.885000	0.99019	0.655000	0.94253	TTG		PASS	0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		15	393	15	393	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184586825	184586825	+	Splice_Site	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr3:184586825G>T	ENST00000437079.3	+	19	1768		c.e19+1		VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000436792.2_Splice_Site|VPS8_ENST00000287546.4_Splice_Site	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)								zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCAGTAGTGGGTGAGTAGGCA	0.458																																						uc003fpb.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e18+1		vacuolar protein sorting 8 homolog isoform b							58.0	60.0	59.0					3																	184586825		1948	4145	6093	SO:0001630	splice_region_variant	23355						zinc ion binding	g.chr3:184586825G>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1597+1G>T	3.37:g.184586825G>T						VPS8_uc010hyd.1_Splice_Site_p.G531_splice	p.G531_splice	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		18	1762	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)							A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Splice_Site	SNP	ENST00000437079.3	37	c.1591_splice	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870638	0.72065	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9716	0.89115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS8	186069519	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	9.020000	0.93667	2.285000	0.76669	0.655000	0.94253	.		PASS	0.458	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	Intron	28	16	28	16	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187442826	187442826	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr3:187442826T>C	ENST00000406870.2	-	9	2246	c.1880A>G	c.(1879-1881)gAg>gGg	p.E627G	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.E571G|BCL6_ENST00000232014.4_Missense_Mutation_p.E627G	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	627					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|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 isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E627G(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ATAGGGCTTCTCACCAGTGTG	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(1879-1881)GAG>GGG		B-cell lymphoma 6 protein isoform 1							112.0	111.0	112.0					3																	187442826		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187442826T>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1880A>G	3.37:g.187442826T>C	ENSP00000384371:p.Glu627Gly					BCL6_uc011bsf.1_Missense_Mutation_p.E571G|BCL6_uc010hza.2_Missense_Mutation_p.E525G|BCL6_uc003frq.1_Missense_Mutation_p.E627G	p.E627G	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	9	2337	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		627					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1880A>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.012546	0.93346	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.27557	1.66;1.66;1.66	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.995	T	0.60016	-0.7345	10	0.62326	D	0.03	.	15.059	0.71936	0.0:0.0:0.0:1.0	.	571;627	B8PSA7;P41182	.;BCL6_HUMAN	G	627;627;571	ENSP00000384371:E627G;ENSP00000232014:E627G;ENSP00000413122:E571G	ENSP00000232014:E627G	E	-	2	0	BCL6	188925520	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.994000	0.88315	2.147000	0.66899	0.533000	0.62120	GAG		PASS	0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		82	222	82	222	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123336548	123336548	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr4:123336548A>G	ENST00000296513.2	+	11	1449	c.1264A>G	c.(1264-1266)Agt>Ggt	p.S422G	ADAD1_ENST00000388724.2_Missense_Mutation_p.S411G|ADAD1_ENST00000388725.2_Missense_Mutation_p.S404G	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	422	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.S422G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGGAATTGCAGTGATACCAG	0.333																																						uc003ieo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1264-1266)AGT>GGT		adenosine deaminase domain containing 1							96.0	94.0	95.0					4																	123336548		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336548A>G	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1264A>G	4.37:g.123336548A>G	ENSP00000296513:p.Ser422Gly					ADAD1_uc003iep.2_Missense_Mutation_p.S411G|ADAD1_uc003ieq.2_Missense_Mutation_p.S404G	p.S422G	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			11	1496	+			422			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1264A>G	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350444	0.24512	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93547	-3.24;-3.24;-3.24	5.33	5.33	0.75918	Adenosine deaminase/editase (3);	0.411640	0.28327	N	0.015754	D	0.89622	0.6768	L	0.51422	1.61	0.37423	D	0.913727	B;B	0.11235	0.0;0.004	B;B	0.06405	0.0;0.002	D	0.86389	0.1734	10	0.24483	T	0.36	-7.9936	10.5207	0.44918	0.8555:0.0:0.0:0.1445	.	411;422	Q96M93-2;Q96M93	.;ADAD1_HUMAN	G	422;411;404	ENSP00000296513:S422G;ENSP00000373376:S411G;ENSP00000373377:S404G	ENSP00000296513:S422G	S	+	1	0	ADAD1	123555998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.320000	0.51991	2.020000	0.59435	0.528000	0.53228	AGT		PASS	0.333	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		20	74	20	74	---	---	---	---
BBS12	166379	broad.mit.edu	37	4	123663366	123663366	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr4:123663366G>T	ENST00000314218.3	+	2	512	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F	BBS12_ENST00000542236.1_Missense_Mutation_p.V107F	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	107					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.V107F(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCATCTTGGTGTCCCCATTTC	0.373									Bardet-Biedl syndrome																													uc003ieu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(319-321)GTC>TTC		Bardet-Biedl syndrome 12							148.0	144.0	145.0					4																	123663366		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663366G>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.319G>T	4.37:g.123663366G>T	ENSP00000319062:p.Val107Phe						p.V107F	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	512	+			107					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.319G>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501622	0.64298	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.80566	-1.39;-1.39;-1.39	5.2	0.856	0.19019	.	0.197540	0.39909	N	0.001226	D	0.83557	0.5280	L	0.60455	1.87	0.30930	N	0.727047	D	0.58268	0.982	P	0.60473	0.875	T	0.82014	-0.0667	10	0.87932	D	0	-9.0437	10.1075	0.42541	0.4641:0.0:0.5359:0.0	.	107	Q6ZW61	BBS12_HUMAN	F	107	ENSP00000319062:V107F;ENSP00000438273:V107F;ENSP00000398912:V107F	ENSP00000319062:V107F	V	+	1	0	BBS12	123882816	0.946000	0.32159	0.889000	0.34880	0.927000	0.56198	1.258000	0.32944	0.277000	0.22141	0.650000	0.86243	GTC		PASS	0.373	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		31	96	31	96	---	---	---	---
BBS12	166379	broad.mit.edu	37	4	123663906	123663906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr4:123663906G>T	ENST00000314218.3	+	2	1052	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	BBS12_ENST00000542236.1_Nonsense_Mutation_p.E287*	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	287					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.E287*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GAAGTTAGTAGAAGAAGCAGT	0.388									Bardet-Biedl syndrome																													uc003ieu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(859-861)GAA>TAA		Bardet-Biedl syndrome 12							78.0	73.0	74.0					4																	123663906		2203	4300	6503	SO:0001587	stop_gained	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663906G>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.859G>T	4.37:g.123663906G>T	ENSP00000319062:p.Glu287*						p.E287*	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	1052	+			287					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Nonsense_Mutation	SNP	ENST00000314218.3	37	c.859G>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790290	0.96945	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	.	.	.	5.78	4.04	0.47022	.	0.536207	0.19577	N	0.110957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-36.3462	5.6856	0.17801	0.2435:0.1868:0.5698:0.0	.	.	.	.	X	287	.	ENSP00000319062:E287X	E	+	1	0	BBS12	123883356	0.084000	0.21492	0.001000	0.08648	0.713000	0.41058	0.641000	0.24720	0.769000	0.33313	0.650000	0.86243	GAA		PASS	0.388	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		16	47	16	47	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071494	134071494	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr4:134071494A>T	ENST00000264360.5	+	1	1025	c.199A>T	c.(199-201)Aac>Tac	p.N67Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N67Y(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTAGACCTCAACCTGGAGAC	0.532																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(199-201)AAC>TAC		protocadherin 10 isoform 1 precursor							88.0	92.0	91.0					4																	134071494		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071494A>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.199A>T	4.37:g.134071494A>T	ENSP00000264360:p.Asn67Tyr					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.N67Y	p.N67Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1025	+			67			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.199A>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177809	0.57692	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.44482	0.92	4.77	4.77	0.60923	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000150	T	0.73892	0.3645	H	0.95402	3.665	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.82676	-0.0339	10	0.87932	D	0	.	14.1058	0.65088	1.0:0.0:0.0:0.0	.	67;67	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Y	67	ENSP00000264360:N67Y	ENSP00000264360:N67Y	N	+	1	0	PCDH10	134290944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.941000	0.70195	1.992000	0.58205	0.454000	0.30748	AAC		PASS	0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		29	99	29	99	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393523	164393523	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr4:164393523G>T	ENST00000280605.3	-	1	1524	c.1364C>A	c.(1363-1365)gCc>gAc	p.A455D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	455						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A455D(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)				TGTCGAGATGGCATCACTTGG	0.478																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1363-1365)GCC>GAC		transketolase-like 2							93.0	95.0	94.0					4																	164393523		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393523G>T	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.1364C>A	4.37:g.164393523G>T	ENSP00000280605:p.Ala455Asp						p.A455D	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1525	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	455					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1364C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570334	0.28003	.	.	ENSG00000151005	ENST00000280605	D	0.92397	-3.03	4.05	4.05	0.47172	Transketolase-like, pyrimidine-binding domain (2);	0.292718	0.30428	N	0.009652	D	0.95159	0.8431	M	0.80028	2.48	0.39317	D	0.96518	D	0.71674	0.998	D	0.74674	0.984	D	0.95217	0.8330	10	0.87932	D	0	-10.8404	10.0909	0.42447	0.0:0.2041:0.7959:0.0	.	455	Q9H0I9	TKTL2_HUMAN	D	455	ENSP00000280605:A455D	ENSP00000280605:A455D	A	-	2	0	TKTL2	164612973	0.997000	0.39634	0.746000	0.31095	0.290000	0.27261	2.525000	0.45598	2.551000	0.86045	0.650000	0.86243	GCC		PASS	0.478	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		30	70	30	70	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71493130	71493130	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr5:71493130G>A	ENST00000296755.7	+	5	4246	c.3948G>A	c.(3946-3948)aaG>aaA	p.K1316K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1316					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K1316K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAGGACAAGACTCTGGAAG	0.498																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(3946-3948)AAG>AAA		microtubule-associated protein 1B							58.0	54.0	55.0					5																	71493130		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493130G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3948G>A	5.37:g.71493130G>A						MAP1B_uc010iyw.1_Silent_p.K1333K|MAP1B_uc010iyx.1_Silent_p.K1190K|MAP1B_uc010iyy.1_Silent_p.K1190K	p.K1316K	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4189	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1316					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3948G>A	CCDS4012.1																																																																																				PASS	0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	32	9	32	---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118968463	118968463	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr5:118968463G>C	ENST00000515256.1	+	2	263	c.91G>C	c.(91-93)Gat>Cat	p.D31H				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	31					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D31H(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GTCCCAAGAGGATGCCCTGCA	0.468																																						uc003ksm.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(91-93)GAT>CAT		family with sequence similarity 170, member A							78.0	79.0	79.0					5																	118968463		1951	4136	6087	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118968463G>C	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.91G>C	5.37:g.118968463G>C	ENSP00000422684:p.Asp31His					FAM170A_uc003ksl.2_Missense_Mutation_p.D31H|FAM170A_uc003ksn.2_Missense_Mutation_p.D31H|FAM170A_uc003kso.2_Intron	p.D31H	NM_182761	NP_877438	A1A519	F170A_HUMAN			2	301	+			31					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.91G>C		.	.	.	.	.	.	.	.	.	.	G	15.01	2.706680	0.48412	.	.	ENSG00000164334	ENST00000515256;ENST00000509264	T;T	0.32515	1.45;1.45	4.28	3.39	0.38822	.	0.378973	0.22448	N	0.059934	T	0.43875	0.1267	L	0.54323	1.7	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.63877	0.919;0.919	T	0.14035	-1.0487	9	.	.	.	-3.3842	9.5414	0.39255	0.0:0.0:0.7908:0.2092	.	31;31	A1A519;A2VCN0	F170A_HUMAN;.	H	31	ENSP00000422684:D31H;ENSP00000423697:D31H	.	D	+	1	0	FAM170A	118996362	0.004000	0.15560	0.094000	0.20943	0.014000	0.08584	0.830000	0.27462	1.375000	0.46248	0.655000	0.94253	GAT		PASS	0.468	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		25	56	25	56	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160097670	160097670	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr5:160097670C>G	ENST00000327245.5	-	7	1321	c.475G>C	c.(475-477)Gag>Cag	p.E159Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	159					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E159Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGTCTGCTCTTTTCTTGGG	0.463																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(475-477)GAG>CAG		ATPase, class V, type 10B							105.0	107.0	107.0					5																	160097670		2021	4186	6207	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160097670C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.475G>C	5.37:g.160097670C>G	ENSP00000313600:p.Glu159Gln					ATP10B_uc003lyp.2_Missense_Mutation_p.E159Q|ATP10B_uc011deg.1_Missense_Mutation_p.E203Q|ATP10B_uc003lyo.2_Missense_Mutation_p.E131Q	p.E159Q	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1322	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	159			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.475G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	8.116	0.779945	0.16120	.	.	ENSG00000118322	ENST00000327245	D	0.88586	-2.4	5.13	2.26	0.28386	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.597438	0.16451	N	0.213846	D	0.82490	0.5048	L	0.33245	0.995	0.80722	D	1	B;B;B;P	0.49185	0.418;0.109;0.365;0.92	B;B;B;B	0.43360	0.223;0.061;0.142;0.417	T	0.75351	-0.3348	9	.	.	.	.	9.5898	0.39539	0.0:0.5105:0.4154:0.074	.	203;159;131;159	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Q	159	ENSP00000313600:E159Q	.	E	-	1	0	ATP10B	160030248	0.804000	0.28969	0.537000	0.28052	0.245000	0.25701	0.933000	0.28897	0.231000	0.21079	0.585000	0.79938	GAG		PASS	0.463	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		31	70	31	70	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399704	40399704	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:40399704G>C	ENST00000338305.6	-	2	1691	c.1149C>G	c.(1147-1149)agC>agG	p.S383R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	383						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S383R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGTGCTGTTGCTGAGGTGTG	0.652																																						uc003oph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1147-1149)AGC>AGG		leucine rich repeat and fibronectin type III							59.0	46.0	50.0					6																	40399704		2203	4299	6502	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399704G>C	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1149C>G	6.37:g.40399704G>C	ENSP00000345985:p.Ser383Arg						p.S383R	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1614	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		383			Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1149C>G	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180029	0.38511	.	.	ENSG00000156564	ENST00000338305	T	0.56611	0.45	5.45	3.64	0.41730	.	0.075894	0.85682	D	0.000000	T	0.33469	0.0864	M	0.63843	1.955	0.58432	D	0.999995	P	0.46656	0.882	P	0.45474	0.482	T	0.20438	-1.0275	10	0.14656	T	0.56	.	9.8076	0.40803	0.1698:0.0:0.8302:0.0	.	383	Q9ULH4	LRFN2_HUMAN	R	383	ENSP00000345985:S383R	ENSP00000345985:S383R	S	-	3	2	LRFN2	40507682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.419000	0.44671	0.651000	0.30788	0.655000	0.94253	AGC		PASS	0.652	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		11	39	11	39	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66204811	66204811	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:66204811G>C	ENST00000370621.3	-	4	1019	c.493C>G	c.(493-495)Cta>Gta	p.L165V	EYS_ENST00000370618.3_Missense_Mutation_p.L165V|EYS_ENST00000342421.5_Missense_Mutation_p.L165V|EYS_ENST00000503581.1_Missense_Mutation_p.L165V|EYS_ENST00000370616.2_Missense_Mutation_p.L165V|EYS_ENST00000393380.2_Missense_Mutation_p.L165V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	165					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L165V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTCACATTTAGTCGAAGTCCC	0.428																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(493-495)CTA>GTA		eyes shut homolog isoform 1							72.0	64.0	67.0					6																	66204811		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204811G>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.493C>G	6.37:g.66204811G>C	ENSP00000359655:p.Leu165Val					EYS_uc003peq.2_Missense_Mutation_p.L165V|EYS_uc003per.1_Missense_Mutation_p.L165V|EYS_uc010kaj.1_RNA	p.L165V	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	1031	-			165					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.493C>G		.	.	.	.	.	.	.	.	.	.	G	12.36	1.914105	0.33815	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90844	-2.13;-2.12;-2.12;-2.74;-2.68;-2.68	4.54	-0.375	0.12509	.	.	.	.	.	T	0.80412	0.4618	N	0.08118	0	0.09310	N	0.999997	D;D;D	0.69078	0.987;0.997;0.995	P;D;D	0.65140	0.895;0.932;0.924	T	0.72453	-0.4289	9	0.56958	D	0.05	.	7.8172	0.29267	0.5763:0.0:0.4237:0.0	.	165;165;165	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	165	ENSP00000424243:L165V;ENSP00000359655:L165V;ENSP00000359650:L165V;ENSP00000377042:L165V;ENSP00000341818:L165V;ENSP00000359652:L165V	ENSP00000341818:L165V	L	-	1	2	EYS	66261532	0.906000	0.30813	0.545000	0.28153	0.993000	0.82548	1.466000	0.35310	0.047000	0.15862	0.591000	0.81541	CTA		PASS	0.428	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		24	64	24	64	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76715078	76715078	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:76715078T>G	ENST00000369950.3	-	10	1250	c.1061A>C	c.(1060-1062)gAc>gCc	p.D354A	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.D354A(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTTTTGAGGTCTGTAGCTGT	0.423																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1060-1062)GAC>GCC		interphotoreceptor matrix proteoglycan 1							211.0	183.0	192.0					6																	76715078		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715078T>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1061A>C	6.37:g.76715078T>G	ENSP00000358966:p.Asp354Ala						p.D354A	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			10	1191	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	354						Missense_Mutation	SNP	ENST00000369950.3	37	c.1061A>C	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854976	0.17106	.	.	ENSG00000112706	ENST00000369950	T	0.21932	1.98	5.83	4.48	0.54585	.	0.486779	0.20348	N	0.094106	T	0.09598	0.0236	L	0.55481	1.735	0.09310	N	0.999996	B	0.31989	0.35	B	0.31869	0.137	T	0.07252	-1.0782	10	0.35671	T	0.21	.	10.831	0.46661	0.0:0.0847:0.0:0.9153	.	354	Q17R60	IMPG1_HUMAN	A	354	ENSP00000358966:D354A	ENSP00000358966:D354A	D	-	2	0	IMPG1	76771798	0.041000	0.20044	0.026000	0.17262	0.159000	0.22180	2.369000	0.44231	2.236000	0.73375	0.482000	0.46254	GAC		PASS	0.423	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		28	106	28	106	---	---	---	---
NT5E	4907	broad.mit.edu	37	6	86181076	86181076	+	Silent	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:86181076C>A	ENST00000257770.3	+	3	733	c.684C>A	c.(682-684)ctC>ctA	p.L228L	NT5E_ENST00000369646.3_Silent_p.L228L|NT5E_ENST00000369651.3_Silent_p.L228L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	228					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.L228L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TGGATAAACTCATCGCTCAGA	0.408																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(682-684)CTC>CTA		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						111.0	110.0	110.0					6																	86181076		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86181076C>A	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.684C>A	6.37:g.86181076C>A						NT5E_uc003pkn.2_Silent_p.L228L|NT5E_uc010kbr.2_Silent_p.L228L	p.L228L	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	3	1240	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	228					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.684C>A	CCDS5002.1																																																																																				PASS	0.408	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			19	86	19	86	---	---	---	---
ORC3	23595	broad.mit.edu	37	6	88331094	88331094	+	Missense_Mutation	SNP	A	A	G	rs147755470		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:88331094A>G	ENST00000392844.3	+	10	1058	c.1010A>G	c.(1009-1011)tAt>tGt	p.Y337C	ORC3_ENST00000546266.1_Missense_Mutation_p.Y194C|ORC3_ENST00000417380.2_Missense_Mutation_p.Y284C|ORC3_ENST00000257789.4_Missense_Mutation_p.Y337C	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	337					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.Y337C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						GAGCATTTCTATTCCCAGCCC	0.333																																						uc003pmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1009-1011)TAT>TGT		origin recognition complex, subunit 3 isoform 2		A	CYS/TYR,CYS/TYR,CYS/TYR	1,4401	2.1+/-5.4	0,1,2200	95.0	96.0	96.0		581,1010,1010	3.0	1.0	6	dbSNP_134	96	0,8594		0,0,4297	no	missense,missense,missense	ORC3	NM_001197259.1,NM_012381.3,NM_181837.2	194,194,194	0,1,6497	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	194/569,337/712,337/713	88331094	1,12995	2201	4297	6498	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88331094A>G	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1010A>G	6.37:g.88331094A>G	ENSP00000376586:p.Tyr337Cys					ORC3L_uc011dzl.1_Missense_Mutation_p.Y337C|ORC3L_uc011dzm.1_Missense_Mutation_p.Y337C|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.Y337C|ORC3L_uc003pmi.2_Missense_Mutation_p.Y299C|ORC3L_uc011dzo.1_Missense_Mutation_p.Y194C|ORC3L_uc011dzp.1_Missense_Mutation_p.Y194C	p.Y337C	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	10	1054	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	337					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1010A>G	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036384	0.54896	2.27E-4	0.0	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.41	2.98	0.34508	.	0.306415	0.37906	N	0.001898	T	0.18635	0.0447	M	0.66939	2.045	0.42584	D	0.993229	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.79108	0.989;0.982;0.992;0.968;0.946	T	0.01242	-1.1408	10	0.52906	T	0.07	0.5448	7.6351	0.28261	0.8058:0.0:0.0686:0.1256	.	337;337;275;337;337	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	C	337;337;194;284	ENSP00000376586:Y337C;ENSP00000257789:Y337C;ENSP00000444695:Y194C;ENSP00000390176:Y284C	ENSP00000257789:Y337C	Y	+	2	0	ORC3	88387813	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.632000	0.61311	0.422000	0.26005	-0.336000	0.08194	TAT		PASS	0.333	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			8	128	8	128	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96053766	96053766	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:96053766A>T	ENST00000358812.4	+	5	1008	c.874A>T	c.(874-876)Aat>Tat	p.N292Y	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	292	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.N292Y(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GAGTATTCGCAATTCTCCTTA	0.373																																						uc003poo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(874-876)AAT>TAT		mannosidase, endo-alpha							125.0	120.0	122.0					6																	96053766		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053766A>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.874A>T	6.37:g.96053766A>T	ENSP00000351669:p.Asn292Tyr						p.N292Y	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1014	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	292			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.874A>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.730441	0.69074	.	.	ENSG00000172469	ENST00000358812	D	0.91945	-2.94	6.16	3.71	0.42584	.	0.268295	0.47093	D	0.000254	D	0.88625	0.6487	M	0.83953	2.67	0.40764	D	0.98303	P	0.46512	0.879	P	0.51385	0.668	D	0.89290	0.3618	10	0.02654	T	1	-22.2628	10.3896	0.44160	0.8667:0.0:0.1333:0.0	.	292	Q5SRI9	MANEA_HUMAN	Y	292	ENSP00000351669:N292Y	ENSP00000351669:N292Y	N	+	1	0	MANEA	96160487	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.253000	0.43205	0.523000	0.28482	0.528000	0.53228	AAT		PASS	0.373	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		29	80	29	80	---	---	---	---
CEP85L	387119	broad.mit.edu	37	6	118887060	118887060	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:118887060T>C	ENST00000368491.3	-	3	1273	c.652A>G	c.(652-654)Ata>Gta	p.I218V	CEP85L_ENST00000368488.5_Missense_Mutation_p.I221V|CEP85L_ENST00000392500.3_Missense_Mutation_p.I221V|CEP85L_ENST00000419517.2_Missense_Mutation_p.I218V|CEP85L_ENST00000360290.3_Missense_Mutation_p.I116V|CEP85L_ENST00000472713.1_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	218						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.I218V(1)									TTTTTATTTATTTCCTTGTCC	0.423																																						uc003pxz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(652-654)ATA>GTA		chromosome 6 open reading frame 204 isoform a							176.0	170.0	172.0					6																	118887060		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118887060T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.652A>G	6.37:g.118887060T>C	ENSP00000357477:p.Ile218Val					C6orf204_uc003pya.1_Missense_Mutation_p.I221V|C6orf204_uc003pyb.2_Missense_Mutation_p.I218V|C6orf204_uc011ebj.1_Missense_Mutation_p.I116V|C6orf204_uc003pyc.2_Missense_Mutation_p.I221V|C6orf204_uc011ebl.1_Missense_Mutation_p.I116V	p.I218V	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	1240	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	218					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.652A>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.060877	0.00386	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.21191	3.2;3.2;2.61;2.33;2.02;2.34	6.07	-3.96	0.04106	.	0.726019	0.13897	N	0.355217	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.17667	0.001;0.023;0.023;0.0;0.002	B;B;B;B;B	0.11329	0.002;0.006;0.006;0.001;0.003	T	0.41610	-0.9499	10	0.07175	T	0.84	-0.6214	3.0436	0.06146	0.1698:0.328:0.0869:0.4153	.	116;221;218;221;218	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	V	218;221;221;221;116;218	ENSP00000357477:I218V;ENSP00000357474:I221V;ENSP00000392131:I221V;ENSP00000376288:I221V;ENSP00000353434:I116V;ENSP00000393317:I218V	ENSP00000353434:I116V	I	-	1	0	C6orf204	118993753	0.004000	0.15560	0.021000	0.16686	0.005000	0.04900	-0.360000	0.07622	-1.075000	0.03129	-2.485000	0.00197	ATA		PASS	0.423	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	158	10	158	---	---	---	---
TCP10	6953	broad.mit.edu	37	6	167786681	167786681	+	Silent	SNP	G	G	A	rs377499408	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr6:167786681G>A	ENST00000397829.4	-	8	1124	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	346						cytosol (GO:0005829)		p.P319P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCTGTCTGGAGGGAGCGGCGT	0.537													N|||	7	0.00139776	0.0053	0.0	5008	,	,		26724	0.0		0.0	False		,,,				2504	0.0					uc003qvv.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(955-957)CCC>CCT		t-complex 10		G		4,3704		0,4,1850	81.0	87.0	85.0		957	-0.9	0.0	6		85	0,8192		0,0,4096	no	coding-synonymous	TCP10	NM_004610.3		0,4,5946	AA,AG,GG		0.0,0.1079,0.0336		319/327	167786681	4,11896	1854	4096	5950	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167786681G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.957C>T	6.37:g.167786681G>A						TCP10_uc003qvu.2_Intron	p.P319P	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	8	1169	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	346					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.957C>T	CCDS43527.1																																																																																				PASS	0.537	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		21	114	21	114	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8095089	8095089	+	Silent	SNP	A	A	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:8095089A>G	ENST00000223145.5	+	4	1280	c.723A>G	c.(721-723)ctA>ctG	p.L241L	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	241						cytoplasm (GO:0005737)		p.L241L(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGCAGCAACTACAACGCAGTA	0.408																																						uc003srk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(721-723)CTA>CTG		glucocorticoid induced transcript 1							175.0	147.0	156.0					7																	8095089		2203	4300	6503	SO:0001819	synonymous_variant	113263							g.chr7:8095089A>G	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.723A>G	7.37:g.8095089A>G							p.L241L	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	4	1282	+		Ovarian(82;0.0608)	241			Potential.		A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	c.723A>G	CCDS34601.1																																																																																				PASS	0.408	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		19	97	19	97	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31126093	31126093	+	Silent	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:31126093G>T	ENST00000304166.4	+	10	1054	c.765G>T	c.(763-765)ctG>ctT	p.L255L	ADCYAP1R1_ENST00000396211.2_Silent_p.L255L|ADCYAP1R1_ENST00000409489.1_Silent_p.L255L|ADCYAP1R1_ENST00000409363.1_Silent_p.L234L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	255					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.L255L(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCACTCTGCTGGTGGAGACCT	0.527																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(763-765)CTG>CTT		adenylate cyclase activating polypeptide 1							206.0	160.0	176.0					7																	31126093		2203	4300	6503	SO:0001819	synonymous_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126093G>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.765G>T	7.37:g.31126093G>T						ADCYAP1R1_uc003tcb.1_Silent_p.L234L|ADCYAP1R1_uc003tcc.1_Silent_p.L255L|ADCYAP1R1_uc003tcd.1_Silent_p.L255L|ADCYAP1R1_uc003tce.1_Silent_p.L255L|ADCYAP1R1_uc003tcf.1_5'Flank	p.L255L	NM_001118	NP_001109	P41586	PACR_HUMAN			10	988	+			255			Cytoplasmic (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	ENST00000304166.4	37	c.765G>T	CCDS5433.1																																																																																				PASS	0.527	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		13	72	13	72	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31793118	31793118	+	Silent	SNP	G	G	A	rs200681508	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:31793118G>A	ENST00000396191.1	-	18	2465	c.2010C>T	c.(2008-2010)agC>agT	p.S670S	PDE1C_ENST00000396193.1_Silent_p.S730S|PDE1C_ENST00000321453.7_Silent_p.S670S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	670					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.S730S(1)|p.S670S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GTGCATAGGAGCTAGATGCGT	0.468																																						uc003tcm.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(2008-2010)AGC>AGT		phosphodiesterase 1C							180.0	174.0	176.0					7																	31793118		876	1991	2867	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31793118G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.2010C>T	7.37:g.31793118G>A						PDE1C_uc003tcn.1_Silent_p.S670S|PDE1C_uc003tco.1_Silent_p.S730S	p.S670S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		18	2479	-			670					B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.2010C>T	CCDS55099.1																																																																																				PASS	0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			36	142	36	142	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39125632	39125632	+	Splice_Site	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:39125632G>T	ENST00000403058.1	+	3	344		c.e3+1		POU6F2_ENST00000517348.1_Splice_Site|POU6F2_ENST00000518318.2_Splice_Site|POU6F2_ENST00000559001.1_Splice_Site|POU6F2_ENST00000464276.2_Splice_Site	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2						central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AAGCTCTTCGGTAAGTCTGTC	0.502																																						uc003thb.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e2+1		POU class 6 homeobox 2 isoform 1							85.0	74.0	78.0					7																	39125632		2203	4300	6503	SO:0001630	splice_region_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39125632G>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.190+1G>T	7.37:g.39125632G>T						POU6F2_uc010kxo.2_Splice_Site_p.G56_splice	p.G64_splice	NM_007252	NP_009183	P78424	PO6F2_HUMAN			2	232	+								A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Splice_Site	SNP	ENST00000403058.1	37	c.190_splice	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731166	0.69189	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2398	0.93877	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU6F2	39092157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.746000	0.91604	2.542000	0.85734	0.637000	0.83480	.		PASS	0.502	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Intron	13	42	13	42	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40102656	40102656	+	Missense_Mutation	SNP	A	A	G	rs368244089		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:40102656A>G	ENST00000181839.4	+	9	3342	c.2737A>G	c.(2737-2739)Ata>Gta	p.I913V	CDK13_ENST00000340829.5_Missense_Mutation_p.I913V|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	913	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.I913V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAAAAAACCTATATTTCAAGC	0.348																																						uc003thh.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(2737-2739)ATA>GTA		cell division cycle 2-like 5 isoform 1		A	VAL/ILE,VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	111.0	115.0	114.0		2737,2737	5.6	1.0	7		114	0,8600		0,0,4300	no	missense,missense	CDK13	NM_003718.4,NM_031267.3	29,29	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign	913/1513,913/1453	40102656	2,13004	2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40102656A>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2737A>G	7.37:g.40102656A>G	ENSP00000181839:p.Ile913Val					CDK13_uc003thi.3_Missense_Mutation_p.I913V|CDK13_uc011kbf.1_Missense_Mutation_p.I299V|CDK13_uc003thj.2_5'UTR	p.I913V	NM_003718	NP_003709	Q14004	CDK13_HUMAN			9	3019	+			913			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2737A>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431725	0.62844	4.54E-4	0.0	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.64991	-0.13;-0.13	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.68952	0.3057	L	0.31526	0.94	0.54753	D	0.999983	B;D;B	0.62365	0.001;0.991;0.379	B;D;B	0.72625	0.007;0.978;0.349	T	0.67225	-0.5724	8	.	.	.	-13.153	16.1325	0.81454	1.0:0.0:0.0:0.0	.	299;913;913	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	V	913	ENSP00000181839:I913V;ENSP00000340557:I913V	.	I	+	1	0	CDK13	40069181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.790000	0.75115	2.272000	0.75746	0.460000	0.39030	ATA		PASS	0.348	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		37	94	37	94	---	---	---	---
CAMK2B	816	broad.mit.edu	37	7	44286779	44286779	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:44286779C>A	ENST00000395749.2	-	6	430	c.354G>T	c.(352-354)caG>caT	p.Q118H	CAMK2B_ENST00000440254.2_Missense_Mutation_p.Q118H|CAMK2B_ENST00000358707.3_Missense_Mutation_p.Q118H|CAMK2B_ENST00000457475.1_Missense_Mutation_p.Q118H|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000395747.2_Missense_Mutation_p.Q118H|CAMK2B_ENST00000346990.4_Missense_Mutation_p.Q118H|CAMK2B_ENST00000350811.3_Missense_Mutation_p.Q118H|CAMK2B_ENST00000353625.4_Missense_Mutation_p.Q118H|CAMK2B_ENST00000347193.4_Missense_Mutation_p.Q118H|CAMK2B_ENST00000258682.6_Missense_Mutation_p.Q118H	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.Q118H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCAGGATCTGCTGGATACAGT	0.602																																						uc003tkq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(352-354)CAG>CAT		calcium/calmodulin-dependent protein kinase II							113.0	90.0	98.0					7																	44286779		2203	4300	6503	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44286779C>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.354G>T	7.37:g.44286779C>A	ENSP00000379098:p.Gln118His					CAMK2B_uc003tkp.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkx.2_Missense_Mutation_p.Q118H|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tks.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tku.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkv.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkt.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkw.2_Missense_Mutation_p.Q118H|CAMK2B_uc010kyc.2_Missense_Mutation_p.Q118H	p.Q118H	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			6	564	-			118			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.354G>T	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683477	0.47991	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747;ENST00000415369;ENST00000424197;ENST00000421607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	3.99	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.23806	0.0576	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.19706	0.011;0.0;0.011;0.0;0.0;0.013;0.011;0.038;0.01	B;B;B;B;B;B;B;B;B	0.23419	0.027;0.001;0.016;0.001;0.002;0.046;0.027;0.026;0.013	T	0.04752	-1.0929	9	0.23891	T	0.37	.	15.0368	0.71754	0.0:1.0:0.0:0.0	.	118;118;118;118;118;118;118;118;118	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	H	118;118;118;118;118;118;118;118;118;118;134;130;118	ENSP00000326375:Q118H;ENSP00000390292:Q118H;ENSP00000379098:Q118H;ENSP00000397937:Q118H;ENSP00000351542:Q118H;ENSP00000326427:Q118H;ENSP00000326544:Q118H;ENSP00000326518:Q118H;ENSP00000258682:Q118H;ENSP00000379096:Q118H;ENSP00000390419:Q134H;ENSP00000400387:Q130H;ENSP00000388445:Q118H	ENSP00000258682:Q118H	Q	-	3	2	CAMK2B	44253304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.569000	0.53827	2.055000	0.61198	0.655000	0.94253	CAG		PASS	0.602	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		8	40	8	40	---	---	---	---
C7orf62	219557	broad.mit.edu	37	7	88424128	88424128	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:88424128C>A	ENST00000297203.2	-	2	314	c.129G>T	c.(127-129)aaG>aaT	p.K43N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	43								p.K43N(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAAGGAATTTCTTTAGGTGTA	0.398																																						uc003ujv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)AAG>AAT		hypothetical protein LOC219557							131.0	140.0	137.0					7																	88424128		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424128C>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.129G>T	7.37:g.88424128C>A	ENSP00000297203:p.Lys43Asn					ZNF804B_uc011khi.1_Intron	p.K43N	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	311	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		43						Missense_Mutation	SNP	ENST00000297203.2	37	c.129G>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146908	0.57151	.	.	ENSG00000164645	ENST00000297203	T	0.17854	2.25	6.01	4.22	0.49857	.	0.061504	0.64402	D	0.000006	T	0.37945	0.1022	M	0.74881	2.28	0.31496	N	0.665412	D	0.89917	1.0	D	0.91635	0.999	T	0.46775	-0.9167	10	0.66056	D	0.02	2.5942	8.3581	0.32342	0.0:0.8284:0.0:0.1716	.	43	Q8TBZ9	CG062_HUMAN	N	43	ENSP00000297203:K43N	ENSP00000297203:K43N	K	-	3	2	C7orf62	88262064	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	0.474000	0.22148	1.569000	0.49696	0.644000	0.83932	AAG		PASS	0.398	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		32	187	32	187	---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635075	122635075	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:122635075T>C	ENST00000249284.2	-	1	679	c.614A>G	c.(613-615)aAg>aGg	p.K205R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	205					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.K205R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGTATCTGCTTGGTCAGTGA	0.458																																						uc003vkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(613-615)AAG>AGG		taste receptor T2R16							150.0	126.0	134.0					7																	122635075		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635075T>C	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.614A>G	7.37:g.122635075T>C	ENSP00000249284:p.Lys205Arg						p.K205R	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	680	-			205			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.614A>G	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	T	0.546	-0.851591	0.02651	.	.	ENSG00000128519	ENST00000249284	T	0.00753	5.74	4.38	-4.64	0.03349	.	0.759418	0.11430	N	0.564934	T	0.00496	0.0016	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.46373	-0.9196	10	0.02654	T	1	.	6.4501	0.21898	0.1559:0.5276:0.0:0.3165	.	205	Q9NYV7	T2R16_HUMAN	R	205	ENSP00000249284:K205R	ENSP00000249284:K205R	K	-	2	0	TAS2R16	122422311	0.005000	0.15991	0.000000	0.03702	0.010000	0.07245	-0.371000	0.07513	-0.657000	0.05373	0.533000	0.62120	AAG		PASS	0.458	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		27	89	27	89	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149502517	149502517	+	RNA	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr7:149502517C>T	ENST00000378016.2	+	0	8330							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGGACGCCCTGGACTTCC	0.662																																						uc010lpk.2																			0					0						c.(8329-8331)CCC>CTC		SCO-spondin precursor							44.0	50.0	48.0					7																	149502517		1955	4148	6103			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149502517C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149502517C>T							p.P2777L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		58	8330	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2777			TSP type-1 7.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.8330C>T																																																																																					PASS	0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	37	8	37	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3000083	3000083	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:3000083G>T	ENST00000520002.1	-	42	6703	c.6148C>A	c.(6148-6150)Ctc>Atc	p.L2050I	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2050I|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2050I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2049I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2049I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2050I|CSMD1_ENST00000539096.1_Missense_Mutation_p.L2049I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2050	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.L1778I(1)|p.L2049I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCGCGGGGAGATCCGTGCCG	0.458																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6148-6150)CTC>ATC		CUB and Sushi multiple domains 1 precursor							116.0	123.0	121.0					8																	3000083		1969	4140	6109	SO:0001583	missense	64478					integral to membrane		g.chr8:3000083G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6148C>A	8.37:g.3000083G>T	ENSP00000430733:p.Leu2050Ile					CSMD1_uc011kwj.1_Missense_Mutation_p.L1442I|CSMD1_uc010lrg.2_Missense_Mutation_p.L118I	p.L2050I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	41	6538	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2050			Extracellular (Potential).|CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6148C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.233|0.233	-1.019847|-1.019847	0.02078|0.02078	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;2.27|.	5.24|5.24	3.34|3.34	0.38264|0.38264	CUB (5);|.	0.485871|.	0.19124|.	N|.	0.122120|.	T|T	0.30634|0.30634	0.0771|0.0771	N|N	0.20304|0.20304	0.555|0.555	0.09310|0.09310	N|N	1|1	D;B;B|.	0.69078|.	0.997;0.011;0.002|.	D;B;B|.	0.80764|.	0.994;0.02;0.015|.	T|T	0.18524|0.18524	-1.0334|-1.0334	10|5	0.17832|.	T|.	0.49|.	.|.	10.5995|10.5995	0.45358|0.45358	0.0712:0.0:0.7966:0.1322|0.0712:0.0:0.7966:0.1322	.|.	2050;2050;2049|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	I|Y	2050;2050;1911;2049;2049;2049|1529	ENSP00000383047:L2050I;ENSP00000430733:L2050I;ENSP00000441462:L2049I;ENSP00000446243:L2049I;ENSP00000441675:L2049I|.	ENSP00000320445:L1911I|.	L|S	-|-	1|2	0|0	CSMD1|CSMD1	2987490|2987490	0.971000|0.971000	0.33674|0.33674	0.011000|0.011000	0.14972|0.14972	0.000000|0.000000	0.00434|0.00434	1.677000|1.677000	0.37576|0.37576	1.349000|1.349000	0.45751|0.45751	-0.218000|-0.218000	0.12543|0.12543	CTC|TCT		PASS	0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	80	8	80	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468360	10468360	+	Missense_Mutation	SNP	G	G	T	rs577028390		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:10468360G>T	ENST00000382483.3	-	4	3471	c.3248C>A	c.(3247-3249)aCg>aAg	p.T1083K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1083					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.T1083K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CATGATCTGCGTGGAGGCAGA	0.697																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3247-3249)ACG>AAG		retinitis pigmentosa 1-like 1							19.0	23.0	22.0					8																	10468360		1919	4119	6038	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468360G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3248C>A	8.37:g.10468360G>T	ENSP00000371923:p.Thr1083Lys						p.T1083K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3477	-			1083					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3248C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220191	0.58560	.	.	ENSG00000183638	ENST00000382483	T	0.76578	-1.03	4.74	-1.32	0.09201	.	0.440156	0.16640	N	0.205671	T	0.61123	0.2322	N	0.19112	0.55	0.09310	N	1	D	0.53619	0.961	P	0.45881	0.496	T	0.57300	-0.7835	10	0.62326	D	0.03	-0.4543	4.7313	0.12966	0.6181:0.0:0.2352:0.1467	.	1083	A6NKC6	.	K	1083	ENSP00000371923:T1083K	ENSP00000371923:T1083K	T	-	2	0	RP1L1	10505770	0.040000	0.19996	0.000000	0.03702	0.002000	0.02628	2.112000	0.41892	-0.239000	0.09710	-0.310000	0.09108	ACG		PASS	0.697	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	37	7	37	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35648048	35648048	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:35648048C>T	ENST00000404895.2	+	17	3157	c.2829C>T	c.(2827-2829)gcC>gcT	p.A943A	AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000453357.2_Silent_p.A938A|UNC5D_ENST00000287272.2_Silent_p.A874A|UNC5D_ENST00000449677.1_Silent_p.A519A|UNC5D_ENST00000416672.1_Silent_p.A948A|UNC5D_ENST00000420357.1_Silent_p.A876A	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	943					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.A938A(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)		TTGATGAAGCCGACTTCAACT	0.493																																						uc003xjr.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2827-2829)GCC>GCT		unc-5 homolog D precursor							91.0	80.0	84.0					8																	35648048		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35648048C>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.2829C>T	8.37:g.35648048C>T						UNC5D_uc003xjs.1_Silent_p.A938A|UNC5D_uc003xju.1_Silent_p.A519A	p.A943A	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	17	3157	+			943			Cytoplasmic (Potential).		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.2829C>T	CCDS6093.2																																																																																				PASS	0.493	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	61	8	61	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42611340	42611340	+	Silent	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:42611340C>A	ENST00000276410.2	-	5	1357	c.1002G>T	c.(1000-1002)acG>acT	p.T334T	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Silent_p.T319T	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	334					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.T334T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GCATTGTGTGCGTGGTTGGGG	0.552																																						uc003xpj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1000-1002)ACG>ACT		cholinergic receptor, nicotinic, alpha 6							95.0	87.0	89.0					8																	42611340		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611340C>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1002G>T	8.37:g.42611340C>A						CHRNA6_uc011lcw.1_Silent_p.T319T	p.T334T	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1048	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	334			Cytoplasmic.		B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.1002G>T	CCDS6135.1																																																																																				PASS	0.552	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			8	92	8	92	---	---	---	---
ARMC1	55156	broad.mit.edu	37	8	66525497	66525497	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:66525497T>C	ENST00000276569.3	-	4	691	c.447A>G	c.(445-447)atA>atG	p.I149M	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'Flank	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	149					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.I149M(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CAAGGCCATCTATATGCAAAA	0.378																																						uc003xvl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(445-447)ATA>ATG		armadillo repeat-containing protein							133.0	125.0	127.0					8																	66525497		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66525497T>C	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.447A>G	8.37:g.66525497T>C	ENSP00000276569:p.Ile149Met					ARMC1_uc011leo.1_Intron	p.I149M	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		4	682	-			149					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.447A>G	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673156	0.67928	.	.	ENSG00000104442	ENST00000276569;ENST00000518908	T;D	0.90504	0.79;-2.68	5.88	5.88	0.94601	Heavy metal-associated domain, HMA (1);	0.039411	0.85682	D	0.000000	D	0.93802	0.8018	M	0.80746	2.51	0.80722	D	1	D	0.57899	0.981	P	0.57371	0.819	D	0.94277	0.7516	10	0.87932	D	0	.	11.3808	0.49757	0.1351:0.0:0.0:0.8649	.	149	Q9NVT9	ARMC1_HUMAN	M	149	ENSP00000276569:I149M;ENSP00000429191:I149M	ENSP00000276569:I149M	I	-	3	3	ARMC1	66688051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.977000	0.40589	2.242000	0.73789	0.533000	0.62120	ATA		PASS	0.378	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		37	98	37	98	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68939520	68939520	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:68939520C>A	ENST00000288368.4	+	5	782	c.505C>A	c.(505-507)Cca>Aca	p.P169T	PREX2_ENST00000529398.1_3'UTR	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	169	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.P169T(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						TTTAGTAACACCAATACAAAG	0.348																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(505-507)CCA>ACA		DEP domain containing 2 isoform a							139.0	131.0	134.0					8																	68939520		2203	4300	6503	SO:0001583	missense	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.chr8:68939520C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.505C>A	8.37:g.68939520C>A	ENSP00000288368:p.Pro169Thr					PREX2_uc003xxu.1_Missense_Mutation_p.P169T|PREX2_uc011lez.1_Missense_Mutation_p.P104T	p.P169T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			5	532	+			169			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.505C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752561	0.89753	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.90620	-2.7	5.66	5.66	0.87406	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.97508	0.9184	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98308	1.0522	10	0.87932	D	0	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	169;169;169	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	T	169	ENSP00000288368:P169T	ENSP00000288368:P169T	P	+	1	0	PREX2	69102074	1.000000	0.71417	0.721000	0.30653	0.993000	0.82548	7.338000	0.79269	2.832000	0.97577	0.655000	0.94253	CCA		PASS	0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		4	127	4	127	---	---	---	---
HEY1	23462	broad.mit.edu	37	8	80677843	80677843	+	Silent	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:80677843C>A	ENST00000354724.3	-	5	694	c.495G>T	c.(493-495)cgG>cgT	p.R165R	HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Silent_p.R75R|HEY1_ENST00000337919.5_Silent_p.R169R|RP11-27N21.3_ENST00000607172.1_lincRNA	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	165					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R169L(1)|p.R165R(1)|p.R165L(1)|p.R169R(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			TCGCGGCTTCCCGCTGGGAAG	0.617			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ybm.2				Dom	yes		8	8q21	23462		hairy/enhancer-of-split related with YRPW motif 1			M					4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	lung(3)	3						c.(493-495)CGG>CGT		hairy/enhancer-of-split related with YRPW motif							34.0	39.0	37.0					8																	80677843		2203	4300	6503	SO:0001819	synonymous_variant	23462				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr8:80677843C>A	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.495G>T	8.37:g.80677843C>A			OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	HEY1_uc010lzq.2_Silent_p.R46R|HEY1_uc003ybl.2_Silent_p.R169R	p.R165R	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Epithelial(68;0.076)|all cancers(69;0.179)		5	695	-	all_lung(9;5.1e-05)		165					B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	c.495G>T	CCDS6225.1																																																																																				PASS	0.617	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		4	53	4	53	---	---	---	---
HEY1	23462	broad.mit.edu	37	8	80677875	80677875	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:80677875C>T	ENST00000354724.3	-	5	662	c.463G>A	c.(463-465)Gtt>Att	p.V155I	HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Missense_Mutation_p.V65I|HEY1_ENST00000337919.5_Missense_Mutation_p.V159I|RP11-27N21.3_ENST00000607172.1_lincRNA	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	155	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V159I(1)|p.V155I(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			AGATGCGAAACCAGTCGAACT	0.592			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ybm.2				Dom	yes		8	8q21	23462		hairy/enhancer-of-split related with YRPW motif 1			M					2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(463-465)GTT>ATT		hairy/enhancer-of-split related with YRPW motif							50.0	53.0	52.0					8																	80677875		2203	4300	6503	SO:0001583	missense	23462				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr8:80677875C>T	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.463G>A	8.37:g.80677875C>T	ENSP00000346761:p.Val155Ile		OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	HEY1_uc010lzq.2_Missense_Mutation_p.V36I|HEY1_uc003ybl.2_Missense_Mutation_p.V159I	p.V155I	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Epithelial(68;0.076)|all cancers(69;0.179)		5	663	-	all_lung(9;5.1e-05)		155			Orange.		B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Missense_Mutation	SNP	ENST00000354724.3	37	c.463G>A	CCDS6225.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576393	0.86645	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919;ENST00000523976;ENST00000518733	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.98	4.98	0.66077	Orange subgroup (1);Orange (2);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	L	0.46614	1.455	0.80722	D	1	P;P	0.46064	0.872;0.532	P;B	0.58620	0.842;0.19	T	0.57004	-0.7885	10	0.56958	D	0.05	-38.287	18.6142	0.91296	0.0:1.0:0.0:0.0	.	155;159	Q9Y5J3;Q9Y5J3-2	HEY1_HUMAN;.	I	155;159;159;65;117	ENSP00000346761:V155I;ENSP00000338272:V159I;ENSP00000429792:V65I;ENSP00000429705:V117I	ENSP00000338272:V159I	V	-	1	0	HEY1	80840430	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	5.677000	0.68142	2.456000	0.83038	0.561000	0.74099	GTT		PASS	0.592	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		5	65	5	65	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104922413	104922413	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:104922413C>A	ENST00000436393.2	+	3	1251	c.1010C>A	c.(1009-1011)gCa>gAa	p.A337E	RIMS2_ENST00000507740.1_Missense_Mutation_p.A367E|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.A559E			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	637					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.A367E(2)|p.A337E(1)|p.A559E(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCAGTGAGGCATCCCCAATG	0.388										HNSCC(12;0.0054)																												uc003yls.2																			4	Substitution - Missense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1009-1011)GCA>GAA		regulating synaptic membrane exocytosis 2							182.0	173.0	176.0					8																	104922413		1905	4122	6027	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922413C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1010C>A	8.37:g.104922413C>A	ENSP00000390665:p.Ala337Glu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.A559E|RIMS2_uc003ylw.2_Missense_Mutation_p.A367E|RIMS2_uc003ylq.2_Missense_Mutation_p.A367E|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	p.A337E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1251	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1010C>A		.	.	.	.	.	.	.	.	.	.	C	3.168	-0.170623	0.06421	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000515551;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.16897	2.31;2.79;2.39;2.47;2.39;2.78	5.09	3.31	0.37934	.	.	.	.	.	T	0.10380	0.0254	N	0.22421	0.69	0.80722	D	1	B;B;B	0.31485	0.325;0.191;0.035	B;B;B	0.29267	0.08;0.075;0.1	T	0.14839	-1.0458	9	0.13470	T	0.59	.	11.7143	0.51643	0.0:0.8553:0.0:0.1447	.	337;367;559	D6RA03;Q9UQ26-3;F8WD47	.;.;.	E	559;590;559;367;367;367;337	ENSP00000427018:A559E;ENSP00000384892:A559E;ENSP00000425205:A367E;ENSP00000423559:A367E;ENSP00000386228:A367E;ENSP00000390665:A337E	ENSP00000332184:A590E	A	+	2	0	RIMS2	104991589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.947000	0.56652	0.661000	0.30985	-0.143000	0.13931	GCA		PASS	0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		28	101	28	101	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113563039	113563039	+	Silent	SNP	T	T	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:113563039T>A	ENST00000297405.5	-	27	4669	c.4425A>T	c.(4423-4425)ccA>ccT	p.P1475P	CSMD3_ENST00000455883.2_Silent_p.P1371P|CSMD3_ENST00000343508.3_Silent_p.P1435P|CSMD3_ENST00000352409.3_Silent_p.P1475P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1475	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1475P(1)|p.P1435P(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						CATTTTCTGGTGGACCGTCCC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(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.(4423-4425)CCA>CCT		CUB and Sushi multiple domains 3 isoform 1							78.0	75.0	76.0					8																	113563039		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113563039T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4425A>T	8.37:g.113563039T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P747P|CSMD3_uc003ynt.2_Silent_p.P1435P|CSMD3_uc011lhx.1_Silent_p.P1371P	p.P1475P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4584	-			1475			Extracellular (Potential).|CUB 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4425A>T	CCDS6315.1																																																																																				PASS	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	84	26	84	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27168569	27168569	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr9:27168569G>C	ENST00000380036.4	+	3	883	c.441G>C	c.(439-441)ttG>ttC	p.L147F	TEK_ENST00000406359.4_Missense_Mutation_p.L147F|TEK_ENST00000519097.1_Missense_Mutation_p.L43F	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	147					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L147F(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAAAGGTATTGATTAAAGAAG	0.333																																						uc003zqi.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(439-441)TTG>TTC		TEK tyrosine kinase, endothelial precursor							151.0	139.0	143.0					9																	27168569		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27168569G>C	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.441G>C	9.37:g.27168569G>C	ENSP00000369375:p.Leu147Phe					TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.L147F|TEK_uc011lno.1_Missense_Mutation_p.L147F|TEK_uc011lnp.1_Missense_Mutation_p.L43F|TEK_uc003zqj.1_Missense_Mutation_p.L124F	p.L147F	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	3	883	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	147			Extracellular (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.441G>C	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377316	0.42105	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359	T;T;T	0.73789	-0.78;-0.75;-0.78	5.59	3.24	0.37175	Immunoglobulin-like fold (1);	0.000000	0.37261	N	0.002175	T	0.57681	0.2070	L	0.27053	0.805	0.36851	D	0.887894	P;B;B;P;B	0.37015	0.578;0.037;0.093;0.578;0.401	B;B;B;B;B	0.36289	0.157;0.025;0.042;0.221;0.066	T	0.63616	-0.6597	10	0.56958	D	0.05	.	6.3075	0.21147	0.4242:0.0:0.5758:0.0	.	43;180;147;147;147	E7EWI2;Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;.;TIE2_HUMAN	F	43;147;147;147	ENSP00000430686:L43F;ENSP00000369375:L147F;ENSP00000383977:L147F	ENSP00000343716:L147F	L	+	3	2	TEK	27158569	0.654000	0.27367	1.000000	0.80357	0.996000	0.88848	0.993000	0.29680	1.361000	0.45981	0.643000	0.83706	TTG		PASS	0.333	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			18	46	18	46	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79917868	79917868	+	Missense_Mutation	SNP	G	G	T	rs527383410		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr9:79917868G>T	ENST00000360280.3	+	34	4110	c.3850G>T	c.(3850-3852)Gat>Tat	p.D1284Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.D1284Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1284Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1245Y|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1284					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.D1284Y(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAAGTACTGGATCTACTCCT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		15137	0.0		0.0	False		,,,				2504	0.001					uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(3850-3852)GAT>TAT		vacuolar protein sorting 13A isoform A							119.0	117.0	117.0					9																	79917868		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79917868G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3850G>T	9.37:g.79917868G>T	ENSP00000353422:p.Asp1284Tyr					VPS13A_uc004akp.3_Missense_Mutation_p.D1284Y|VPS13A_uc004akq.3_Missense_Mutation_p.D1284Y|VPS13A_uc004aks.2_Missense_Mutation_p.D1245Y|VPS13A_uc010mpo.1_5'UTR	p.D1284Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			34	4110	+			1284			TPR 4.		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3850G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753459	0.31046	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.31	4.41	0.53225	.	0.295546	0.32852	N	0.005568	T	0.12092	0.0294	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.15141	0.004;0.007;0.012;0.012	B;B;B;B	0.19391	0.021;0.017;0.025;0.025	T	0.05733	-1.0867	10	0.49607	T	0.09	.	8.5763	0.33601	0.0859:0.2769:0.6372:0.0	.	1245;1284;1284;1284	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	1284;1245;1284;1284	ENSP00000365821:D1284Y;ENSP00000365823:D1245Y;ENSP00000353422:D1284Y;ENSP00000349985:D1284Y	ENSP00000349985:D1284Y	D	+	1	0	VPS13A	79107688	1.000000	0.71417	0.999000	0.59377	0.644000	0.38419	3.729000	0.54999	1.228000	0.43614	0.563000	0.77884	GAT		PASS	0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		34	108	34	108	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88903620	88903620	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr9:88903620G>A	ENST00000375963.3	-	27	4632	c.4460C>T	c.(4459-4461)tCa>tTa	p.S1487L	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.S776L|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.S387L|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S1449L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S1251L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1487					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.S1487L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCTCTTCGCTGAGGCTTTTCC	0.433																																						uc004aoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4459-4461)TCA>TTA		zinc finger, CCHC domain containing 6							125.0	100.0	108.0					9																	88903620		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88903620G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4460C>T	9.37:g.88903620G>A	ENSP00000365130:p.Ser1487Leu					ZCCHC6_uc010mqe.2_Missense_Mutation_p.S387L|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S1251L|ZCCHC6_uc004aou.2_Missense_Mutation_p.S1487L	p.S1487L	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			27	4675	-			1487					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.4460C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944744	0.53079	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T	0.57752	0.38;0.85;0.83;0.81	5.32	5.32	0.75619	.	0.278290	0.24838	N	0.035188	T	0.58032	0.2094	N	0.22421	0.69	0.28087	N	0.931952	P;D;D	0.76494	0.844;0.999;0.983	B;D;P	0.69479	0.402;0.964;0.725	T	0.55692	-0.8101	10	0.87932	D	0	-3.4768	13.7213	0.62728	0.0:0.0:0.8459:0.154	.	1449;1251;1487	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	L	776;1251;1449;387;1487	ENSP00000277141:S776L;ENSP00000365127:S1251L;ENSP00000365128:S1449L;ENSP00000365130:S1487L	ENSP00000277141:S776L	S	-	2	0	ZCCHC6	88093440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.041000	0.70988	2.751000	0.94390	0.591000	0.81541	TCA		PASS	0.433	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		19	73	19	73	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976866	119976866	+	Silent	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr9:119976866G>C	ENST00000313400.4	-	3	886	c.786C>G	c.(784-786)ccC>ccG	p.P262P	ASTN2_ENST00000373996.3_Silent_p.P262P|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.P262P			O75129	ASTN2_HUMAN	astrotactin 2	262					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.P262P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCCGCGCCTGGGGACCCAGCA	0.607																																						uc004bjs.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(784-786)CCC>CCG		astrotactin 2 isoform c							80.0	71.0	74.0					9																	119976866		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119976866G>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.786C>G	9.37:g.119976866G>C						ASTN2_uc004bjr.1_Silent_p.P262P|ASTN2_uc004bjt.1_Silent_p.P262P	p.P262P	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	887	-			262			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.786C>G																																																																																					PASS	0.607	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		19	51	19	51	---	---	---	---
DCLRE1C	64421	broad.mit.edu	37	10	14995911	14995911	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:14995911G>C	ENST00000378278.2	-	1	136	c.99C>G	c.(97-99)caC>caG	p.H33Q	DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.H33Q|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	33					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.H33Q(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CTTTGTGGCAGTGGGACAGGA	0.647								Non-homologous end-joining																														uc001inn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)CAC>CAG	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							52.0	55.0	54.0					10																	14995911		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14995911G>C	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.99C>G	10.37:g.14995911G>C	ENSP00000367527:p.His33Gln					DCLRE1C_uc010qbx.1_Missense_Mutation_p.H33Q|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_5'UTR|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR	p.H33Q	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			1	184	-			33	H->A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination.				D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.99C>G	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568027	0.96540	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	D;D	0.99422	-5.88;-5.88	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97688	1.0177	10	0.87932	D	0	.	19.8775	0.96884	0.0:0.0:1.0:0.0	.	33;33	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	Q	33	ENSP00000367538:H33Q;ENSP00000367527:H33Q	ENSP00000367527:H33Q	H	-	3	2	DCLRE1C	15035917	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.636000	0.61339	2.873000	0.98535	0.561000	0.74099	CAC		PASS	0.647	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		13	53	13	53	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17276803	17276803	+	Missense_Mutation	SNP	G	G	T	rs200772352		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:17276803G>T	ENST00000224237.5	+	5	1139	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.A332S			P08670	VIME_HUMAN	vimentin	332	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.A332S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAAGTGGATGCCCTTAAAGG	0.517																																						uc001iou.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(994-996)GCC>TCC		vimentin							67.0	60.0	63.0					10																	17276803		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17276803G>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.994G>T	10.37:g.17276803G>T	ENSP00000224237:p.Ala332Ser					VIM_uc001iov.1_Missense_Mutation_p.A332S|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.A332S|VIM_uc001ioy.1_Missense_Mutation_p.A332S|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.A332S	p.A332S	NM_003380	NP_003371	P08670	VIME_HUMAN			6	1407	+			332			Rod.|Coil 2.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.994G>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385117	0.61956	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.88354	-2.22;-2.22;-2.37	5.91	5.91	0.95273	Filament (1);	0.000000	0.46442	D	0.000299	T	0.81602	0.4857	N	0.05574	-0.02	0.80722	D	1	B;B;B;B	0.29531	0.029;0.247;0.072;0.036	B;B;B;B	0.35510	0.06;0.173;0.204;0.1	T	0.76852	-0.2806	10	0.17369	T	0.5	.	20.2903	0.98542	0.0:0.0:1.0:0.0	.	319;319;332;332	F5H288;B3KRK8;B0YJC4;P08670	.;.;.;VIME_HUMAN	S	332;332;319;158	ENSP00000446007:A332S;ENSP00000224237:A332S;ENSP00000391842:A158S	ENSP00000224237:A332S	A	+	1	0	VIM	17316809	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	6.520000	0.73773	2.794000	0.96219	0.637000	0.83480	GCC		PASS	0.517	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		11	89	11	89	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27326951	27326951	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:27326951C>T	ENST00000376087.4	-	22	2573	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.R819K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R360K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	802					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.R803K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATCAGCATTTCTTCTCTTCTC	0.303																																						uc001ith.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(2404-2406)AGA>AAA		ankyrin repeat domain 26							120.0	104.0	109.0					10																	27326951		1818	4070	5888	SO:0001583	missense	22852					centrosome		g.chr10:27326951C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2408G>A	10.37:g.27326951C>T	ENSP00000365255:p.Arg803Lys					ANKRD26_uc001itg.2_Missense_Mutation_p.R489K|ANKRD26_uc009xku.1_Missense_Mutation_p.R803K	p.R802K	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			22	2577	-			802			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2405G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175915	0.21704	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.16897	2.31;2.31;2.31	5.15	-1.08	0.09936	.	0.779066	0.11025	N	0.607871	T	0.09202	0.0227	L	0.43757	1.38	0.09310	N	1	B;B;B	0.28512	0.009;0.005;0.214	B;B;B	0.20767	0.013;0.006;0.031	T	0.35822	-0.9773	10	0.13108	T	0.6	.	0.7604	0.01006	0.1893:0.3304:0.1319:0.3484	.	803;802;819	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	K	360;803;819	ENSP00000365238:R360K;ENSP00000365255:R803K;ENSP00000405112:R819K	ENSP00000365238:R360K	R	-	2	0	ANKRD26	27366957	0.998000	0.40836	0.379000	0.26080	0.987000	0.75469	0.837000	0.27558	0.020000	0.15106	-0.225000	0.12378	AGA		PASS	0.303	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			4	57	4	57	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27687254	27687254	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:27687254G>T	ENST00000438700.3	-	4	2390	c.2273C>A	c.(2272-2274)tCc>tAc	p.S758Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	758					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.S758Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTTGGCTGAGGAAGAAACATC	0.318																																						uc001itu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2272-2274)TCC>TAC		patched domain containing 3							34.0	36.0	35.0					10																	27687254		2202	4299	6501	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687254G>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.2273C>A	10.37:g.27687254G>T	ENSP00000417658:p.Ser758Tyr						p.S758Y	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	2391	-			758					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.2273C>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	8.631	0.893748	0.17613	.	.	ENSG00000182077	ENST00000438700	D	0.88818	-2.43	4.39	4.39	0.52855	.	0.728355	0.13546	N	0.379828	D	0.92264	0.7546	M	0.61703	1.905	0.09310	N	1	D	0.58620	0.983	P	0.60789	0.879	D	0.85135	0.0977	10	0.72032	D	0.01	-6.7499	12.9657	0.58483	0.0:0.1628:0.8372:0.0	.	758	Q3KNS1	PTHD3_HUMAN	Y	758	ENSP00000417658:S758Y	ENSP00000417658:S758Y	S	-	2	0	PTCHD3	27727260	0.999000	0.42202	0.005000	0.12908	0.008000	0.06430	2.884000	0.48562	2.285000	0.76669	0.542000	0.68232	TCC		PASS	0.318	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		13	42	13	42	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809110	31809110	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:31809110T>C	ENST00000320985.10	+	7	957	c.847T>C	c.(847-849)Tat>Cat	p.Y283H	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y263H|ZEB1_ENST00000446923.2_Missense_Mutation_p.Y267H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y216H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Y284H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	283					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y283H(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTCTGGCTCCTATAGCTCACA	0.398																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(847-849)TAT>CAT		zinc finger E-box binding homeobox 1 isoform b							76.0	76.0	76.0					10																	31809110		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809110T>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.847T>C	10.37:g.31809110T>C	ENSP00000319248:p.Tyr283His					ZEB1_uc001ivr.3_Missense_Mutation_p.Y65H|ZEB1_uc010qee.1_Missense_Mutation_p.Y65H|ZEB1_uc010qef.1_Missense_Mutation_p.Y65H|ZEB1_uc009xlj.1_Missense_Mutation_p.Y209H|ZEB1_uc010qeg.1_Missense_Mutation_p.Y142H|ZEB1_uc009xlk.1_Missense_Mutation_p.Y65H|ZEB1_uc001ivt.3_Missense_Mutation_p.Y65H|ZEB1_uc001ivu.3_Missense_Mutation_p.Y284H|ZEB1_uc001ivv.3_Missense_Mutation_p.Y263H|ZEB1_uc010qeh.1_Missense_Mutation_p.Y216H|ZEB1_uc009xlo.1_Missense_Mutation_p.Y266H|ZEB1_uc009xlp.2_Missense_Mutation_p.Y267H	p.Y283H	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	910	+		Prostate(175;0.0156)	283			C2H2-type 4; atypical.		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.847T>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603459	0.46423	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000543514;ENST00000446923	T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000034	T	0.27524	0.0676	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.996;0.997;0.997;0.999;0.997;0.997	T	0.00688	-1.1609	10	0.87932	D	0	-15.6003	15.8229	0.78673	0.0:0.0:0.0:1.0	.	216;283;267;283;283;263;284;283	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	65;283;284;283;216;283;263;142;284;174;267	ENSP00000444282:Y65H;ENSP00000354487:Y284H;ENSP00000444891:Y216H;ENSP00000319248:Y283H;ENSP00000415961:Y284H;ENSP00000391612:Y267H	ENSP00000319248:Y283H	Y	+	1	0	ZEB1	31849116	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.137000	0.66172	0.533000	0.62120	TAT		PASS	0.398	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		7	53	7	53	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508496	37508496	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:37508496A>T	ENST00000602533.1	+	34	3787	c.3688A>T	c.(3688-3690)Aga>Tga	p.R1230*	ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.R1349*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.R1230*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1286					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1230*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACATGCACAAAGAGACCAACG	0.373																																						uc001iza.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3688-3690)AGA>TGA		ankyrin repeat domain 30A							72.0	62.0	65.0					10																	37508496		1917	4114	6031	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508496A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3688A>T	10.37:g.37508496A>T	ENSP00000473551:p.Arg1230*						p.R1230*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3787	+			1286			Potential.		Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.3688A>T		.	.	.	.	.	.	.	.	.	.	a	38	6.951538	0.97960	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0203	0.36195	1.0:0.0:0.0:0.0	.	.	.	.	X	1230;1349	.	ENSP00000354432:R1230X	R	+	1	2	ANKRD30A	37548502	1.000000	0.71417	0.055000	0.19348	0.011000	0.07611	5.389000	0.66255	1.205000	0.43262	0.386000	0.25728	AGA		PASS	0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	39	7	39	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75519790	75519790	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:75519790C>T	ENST00000339365.2	+	6	658	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	SEC24C_ENST00000411652.2_Silent_p.L24L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Silent_p.L24L|SEC24C_ENST00000345254.4_Silent_p.L166L|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	166					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.L166L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACCAACATCGCTGGCTTCAGC	0.532																																						uc001juw.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(496-498)CTG>TTG		SEC24-related protein C							95.0	89.0	91.0					10																	75519790		2198	4293	6491	SO:0001819	synonymous_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75519790C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.496C>T	10.37:g.75519790C>T						SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Silent_p.L24L|SEC24C_uc001jux.2_Silent_p.L166L|SEC24C_uc010qko.1_Silent_p.L24L|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.L166L	NM_004922	NP_004913	P53992	SC24C_HUMAN			6	675	+	Prostate(51;0.0112)		166					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.496C>T	CCDS7332.1																																																																																				PASS	0.532	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			26	170	26	170	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105905258	105905258	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:105905258T>C	ENST00000357060.3	-	31	4035	c.3920A>G	c.(3919-3921)tAc>tGc	p.Y1307C	WDR96_ENST00000428666.1_Missense_Mutation_p.Y1279C	NM_025145.5	NP_079421.5												p.Y1307C(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAAAGTTTGTAGAGTATATC	0.363																																						uc001kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3919-3921)TAC>TGC		hypothetical protein LOC80217							62.0	61.0	62.0					10																	105905258		2203	4299	6502	SO:0001583	missense	80217							g.chr10:105905258T>C																												ENST00000357060.3:c.3920A>G	10.37:g.105905258T>C	ENSP00000349568:p.Tyr1307Cys					C10orf79_uc009xxq.2_Missense_Mutation_p.Y586C	p.Y1307C	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	31	4036	-		Colorectal(252;0.178)	1307						Missense_Mutation	SNP	ENST00000357060.3	37	c.3920A>G	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.73|13.73	2.324022|2.324022	0.41096|0.41096	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000457071;ENST00000434629|ENST00000357060;ENST00000428666	.|T;T	.|0.16196	.|2.36;2.38	5.57|5.57	4.4|4.4	0.53042|0.53042	.|.	.|0.283664	.|0.35772	.|N	.|0.002982	T|T	0.38878|0.38878	0.1057|0.1057	M|M	0.77616|0.77616	2.38|2.38	0.37942|0.37942	D|D	0.932375|0.932375	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74348	.|0.973;0.983	T|T	0.34601|0.34601	-0.9822|-0.9822	5|10	.|0.44086	.|T	.|0.13	.|.	9.4582|9.4582	0.38767|0.38767	0.2823:0.0:0.0:0.7177|0.2823:0.0:0.0:0.7177	.|.	.|1279;1307	.|G5E9L1;Q8NDM7	.|.;WDR96_HUMAN	A|C	156;639|1307;1279	.|ENSP00000349568:Y1307C;ENSP00000400289:Y1279C	.|ENSP00000349568:Y1307C	T|Y	-|-	1|2	0|0	WDR96|WDR96	105895248|105895248	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.336000|0.336000	0.28762|0.28762	2.535000|2.535000	0.45685|0.45685	0.894000|0.894000	0.36317|0.36317	0.533000|0.533000	0.62120|0.62120	ACA|TAC		PASS	0.363	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	36	5	36	---	---	---	---
CUZD1	50624	broad.mit.edu	37	10	124605305	124605306	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:124605305_124605306CC>TT	ENST00000368904.1	-	3	1003_1004	c.54_55GG>AA	c.(52-57)ttGGcg>ttAAcg	p.A19T	CUZD1_ENST00000392790.1_Missense_Mutation_p.A19T|CUZD1_ENST00000545804.1_Missense_Mutation_p.A19T					CUB and zona pellucida-like domains 1									p.A19T(2)|p.L18L(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTCAGCTCCGCCAAACAGGAGA	0.45																																						uc001lgq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(55-57)GCG>ACG|c.(52-54)TTG>TTA		CUB and zona pellucida-like domains 1 precursor																																				SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124605305C>T|g.chr10:124605306C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.54_55delinsTT	10.37:g.124605305_124605306delinsTT	ENSP00000357900:p.Ala19Thr					CUZD1_uc009yaf.2_5'UTR|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.A19T|CUZD1_uc010qtz.1_Missense_Mutation_p.A19T|CUZD1_uc009yaf.2_5'UTR|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Silent_p.L18L|CUZD1_uc010qtz.1_Silent_p.L18L	p.A19T|p.L18L	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	1	387|386	-		all_neural(114;0.169)|Glioma(114;0.222)	19|18						Missense_Mutation|Silent	SNP	ENST00000368904.1	37	c.55G>A|c.54G>A	CCDS7631.1																																																																																				PASS	0.450	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		9	41	9	41	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128973697	128973697	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr10:128973697C>T	ENST00000522781.1	-	4	1518	c.963G>A	c.(961-963)caG>caA	p.Q321Q	FAM196A_ENST00000424811.2_Silent_p.Q321Q|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	321								p.Q321Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGCGACGGCTGCTCACTAC	0.642																																						uc001lju.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(961-963)CAG>CAA		hypothetical protein LOC642938							66.0	70.0	69.0					10																	128973697		2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973697C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.963G>A	10.37:g.128973697C>T						DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.Q321Q|FAM196A_uc001ljv.1_Silent_p.Q321Q|FAM196A_uc009yap.1_Silent_p.Q321Q	p.Q321Q	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			1	1004	-			321					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.963G>A	CCDS31312.1																																																																																				PASS	0.642	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		21	88	21	88	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5411216	5411216	+	Silent	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:5411216G>C	ENST00000328611.3	+	1	610	c.588G>C	c.(586-588)gtG>gtC	p.V196V	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	196					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V196V(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGGAAGTGATACAGCTGG	0.517																																						uc010qzc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(586-588)GTG>GTC		olfactory receptor, family 51, subfamily M,							163.0	155.0	158.0					11																	5411216		2019	4200	6219	SO:0001819	synonymous_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5411216G>C	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.588G>C	11.37:g.5411216G>C						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.V196V	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	588	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	196					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.588G>C	CCDS53596.1																																																																																				PASS	0.517	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		5	148	5	148	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9051542	9051542	+	Missense_Mutation	SNP	G	G	A	rs571629363		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:9051542G>A	ENST00000309263.3	-	18	2377	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	SCUBE2_ENST00000457346.2_Missense_Mutation_p.R798C|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R741C|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R643C			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	769						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R769C(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACTGGGCAACGAATACATCGG	0.403																																						uc001mhh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2305-2307)CGT>TGT		CEGP1 protein precursor							143.0	135.0	138.0					11																	9051542		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9051542G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2305C>T	11.37:g.9051542G>A	ENSP00000310658:p.Arg769Cys					SCUBE2_uc001mhi.1_Missense_Mutation_p.R741C|SCUBE2_uc001mhj.1_Missense_Mutation_p.R643C	p.R769C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	18	2385	-			769					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.2305C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.878393	0.91740	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.19	5.19	0.71726	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.053155	0.85682	D	0.000000	T	0.49064	0.1535	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.942;1.0;1.0	T	0.56908	-0.7901	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	643;741;769	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	C	798;769;643;741	ENSP00000390481:R798C;ENSP00000310658:R769C;ENSP00000415187:R643C;ENSP00000429969:R741C	ENSP00000310658:R769C	R	-	1	0	SCUBE2	9008118	1.000000	0.71417	0.925000	0.36789	0.994000	0.84299	9.751000	0.98889	2.415000	0.81967	0.491000	0.48974	CGT		PASS	0.403	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		34	47	34	47	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19955304	19955304	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:19955304C>T	ENST00000396087.3	+	8	1682	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	NAV2_ENST00000540292.1_Missense_Mutation_p.A459V|NAV2_ENST00000527559.2_Missense_Mutation_p.A457V|NAV2_ENST00000349880.4_Missense_Mutation_p.A505V|NAV2_ENST00000396085.1_Missense_Mutation_p.A505V|NAV2_ENST00000360655.4_Missense_Mutation_p.A441V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	528					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A528V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						aaggaCCTTGCCAAGAGAGCC	0.527																																						uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(1582-1584)GCC>GTC		neuron navigator 2 isoform 2							101.0	118.0	112.0					11																	19955304		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955304C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1583C>T	11.37:g.19955304C>T	ENSP00000379396:p.Ala528Val					NAV2_uc001mpp.2_Missense_Mutation_p.A441V|NAV2_uc001mpr.3_Missense_Mutation_p.A505V	p.A528V	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			8	1944	+			528			Potential.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.1583C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695022	0.30052	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28454	1.61;1.72;1.72;1.72;1.61;1.61	5.17	2.88	0.33553	.	1.160480	0.06375	N	0.714248	T	0.17365	0.0417	N	0.08118	0	0.24182	N	0.995586	B;B	0.15719	0.005;0.014	B;B	0.13407	0.008;0.009	T	0.20974	-1.0259	9	.	.	.	.	9.8654	0.41140	0.0:0.6549:0.2617:0.0833	.	505;441	Q8IVL1-3;Q8IVL1-4	.;.	V	441;505;505;528;457;459	ENSP00000353871:A441V;ENSP00000379394:A505V;ENSP00000309577:A505V;ENSP00000379396:A528V;ENSP00000435395:A457V;ENSP00000443489:A459V	.	A	+	2	0	NAV2	19911880	0.826000	0.29277	0.992000	0.48379	0.848000	0.48234	1.822000	0.39052	1.134000	0.42165	0.462000	0.41574	GCC		PASS	0.527	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		24	27	24	27	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46797843	46797843	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:46797843C>T	ENST00000529230.1	-	24	2999	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	CKAP5_ENST00000312055.5_Missense_Mutation_p.E985K|CKAP5_ENST00000415402.1_Missense_Mutation_p.E985K|CKAP5_ENST00000354558.3_Missense_Mutation_p.E985K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	985					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.E985K(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGAGCTCTTCAGAAAGATCT	0.438																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2953-2955)GAA>AAA		colonic and hepatic tumor over-expressed protein							107.0	96.0	99.0					11																	46797843		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46797843C>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2953G>A	11.37:g.46797843C>T	ENSP00000432768:p.Glu985Lys					CKAP5_uc009ylg.1_Missense_Mutation_p.E871K|CKAP5_uc001ndj.1_Missense_Mutation_p.E985K	p.E985K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			24	3063	-			985					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2953G>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115089	0.77210	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.46	5.46	0.80206	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.044718	0.85682	D	0.000000	T	0.61515	0.2353	L	0.53249	1.67	0.80722	D	1	B;B;B	0.27700	0.012;0.154;0.186	B;B;B	0.23574	0.009;0.028;0.047	T	0.58962	-0.7543	10	0.09590	T	0.72	-9.647	19.661	0.95871	0.0:1.0:0.0:0.0	.	985;985;985	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	K	985	ENSP00000432768:E985K;ENSP00000395302:E985K;ENSP00000310227:E985K;ENSP00000346566:E985K	ENSP00000310227:E985K	E	-	1	0	CKAP5	46754419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.027000	0.70881	2.706000	0.92434	0.591000	0.81541	GAA		PASS	0.438	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		10	50	10	50	---	---	---	---
OR4B1	119765	broad.mit.edu	37	11	48238812	48238812	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:48238812T>G	ENST00000309562.2	+	1	469	c.451T>G	c.(451-453)Ttt>Gtt	p.F151V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F151V(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTGGGGGGCTTTTGTCACTC	0.453																																						uc010rhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(451-453)TTT>GTT		olfactory receptor, family 4, subfamily B,							92.0	91.0	91.0					11																	48238812		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238812T>G	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.451T>G	11.37:g.48238812T>G	ENSP00000311605:p.Phe151Val						p.F151V	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	451	+			151			Helical; Name=4; (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.451T>G	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	T	9.131	1.011406	0.19277	.	.	ENSG00000175619	ENST00000309562	T	0.00164	8.64	5.54	-0.57	0.11753	GPCR, rhodopsin-like superfamily (1);	0.507126	0.18102	N	0.151648	T	0.00210	0.0006	M	0.68728	2.09	0.28257	N	0.925002	B	0.22414	0.069	B	0.35899	0.213	T	0.20107	-1.0285	10	0.72032	D	0.01	.	6.0806	0.19938	0.4486:0.0773:0.0:0.474	.	151	Q8NGF8	OR4B1_HUMAN	V	151	ENSP00000311605:F151V	ENSP00000311605:F151V	F	+	1	0	OR4B1	48195388	0.000000	0.05858	0.393000	0.26258	0.120000	0.20174	0.012000	0.13287	0.029000	0.15352	-0.477000	0.04895	TTT		PASS	0.453	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		26	60	26	60	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949576	56949576	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:56949576C>A	ENST00000497933.1	+	1	356	c.209C>A	c.(208-210)gCc>gAc	p.A70D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	40	LRRNT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A70D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CTCTTGGCAGCCGGGTTGATG	0.637																																						uc001njl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GCC>GAC		leucine rich repeat containing 55							40.0	40.0	40.0					11																	56949576		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949576C>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.209C>A	11.37:g.56949576C>A	ENSP00000419542:p.Ala70Asp						p.A70D	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	356	+			40					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.209C>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142868	0.37825	.	.	ENSG00000183908	ENST00000497933	T	0.54479	0.57	6.07	4.22	0.49857	.	0.311290	0.28042	N	0.016832	T	0.36552	0.0971	N	0.24115	0.695	0.09310	N	0.999999	B	0.29085	0.232	B	0.30179	0.112	T	0.24119	-1.0169	10	0.42905	T	0.14	.	8.2627	0.31795	0.0:0.7618:0.0:0.2382	.	40	Q6ZSA7	LRC55_HUMAN	D	70	ENSP00000419542:A70D	ENSP00000419542:A70D	A	+	2	0	LRRC55	56706152	0.013000	0.17824	0.005000	0.12908	0.198000	0.23893	1.466000	0.35310	0.912000	0.36772	0.655000	0.94253	GCC		PASS	0.637	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		8	40	8	40	---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57569663	57569663	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:57569663T>G	ENST00000399050.4	+	7	1951	c.1415T>G	c.(1414-1416)aTt>aGt	p.I472S	CTNND1_ENST00000532787.1_Missense_Mutation_p.I371S|CTNND1_ENST00000530748.1_Missense_Mutation_p.I418S|CTNND1_ENST00000526772.1_Missense_Mutation_p.I149S|CTNND1_ENST00000528621.1_Missense_Mutation_p.I418S|CTNND1_ENST00000526938.1_Missense_Mutation_p.I472S|CTNND1_ENST00000361796.4_Missense_Mutation_p.I472S|CTNND1_ENST00000529873.1_Missense_Mutation_p.I418S|CTNND1_ENST00000399039.4_Missense_Mutation_p.I472S|CTNND1_ENST00000532844.1_Missense_Mutation_p.I418S|CTNND1_ENST00000524630.1_Missense_Mutation_p.I472S|CTNND1_ENST00000415361.2_Missense_Mutation_p.I371S|CTNND1_ENST00000528232.1_Missense_Mutation_p.I371S|CTNND1_ENST00000534579.1_Missense_Mutation_p.I418S|CTNND1_ENST00000361391.6_Missense_Mutation_p.I472S|CTNND1_ENST00000531014.1_Missense_Mutation_p.I149S|CTNND1_ENST00000426142.2_Missense_Mutation_p.I371S|CTNND1_ENST00000529919.1_Missense_Mutation_p.I472S|CTNND1_ENST00000360682.6_Missense_Mutation_p.I472S|CTNND1_ENST00000530094.1_Missense_Mutation_p.I371S|CTNND1_ENST00000529526.1_Missense_Mutation_p.I418S|CTNND1_ENST00000525902.1_Missense_Mutation_p.I149S|CTNND1_ENST00000428599.2_Missense_Mutation_p.I472S|CTNND1_ENST00000532245.1_Missense_Mutation_p.I371S|CTNND1_ENST00000358694.6_Missense_Mutation_p.I472S|CTNND1_ENST00000532649.1_Missense_Mutation_p.I418S|CTNND1_ENST00000529986.1_Missense_Mutation_p.I371S|CTNND1_ENST00000532463.1_Missense_Mutation_p.I371S|CTNND1_ENST00000527467.1_Missense_Mutation_p.I149S|CTNND1_ENST00000533667.1_Missense_Mutation_p.I149S|CTNND1_ENST00000361332.4_Missense_Mutation_p.I472S|CTNND1_ENST00000526357.1_Missense_Mutation_p.I418S	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	472					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.I472S(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACTGAAGTTATTACCGGTGAG	0.428																																						uc001nmc.3																			2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(1)|kidney(1)	6						c.(1414-1416)ATT>AGT		catenin, delta 1 isoform 1ABC							203.0	193.0	196.0					11																	57569663		1949	4150	6099	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569663T>G	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1415T>G	11.37:g.57569663T>G	ENSP00000382004:p.Ile472Ser					CTNND1_uc001nlh.1_Missense_Mutation_p.I472S|CTNND1_uc001nlu.3_Missense_Mutation_p.I371S|CTNND1_uc001nlt.3_Missense_Mutation_p.I371S|CTNND1_uc001nls.3_Missense_Mutation_p.I371S|CTNND1_uc001nlw.3_Missense_Mutation_p.I371S|CTNND1_uc001nmf.3_Missense_Mutation_p.I472S|CTNND1_uc001nmd.3_Missense_Mutation_p.I418S|CTNND1_uc001nlk.3_Missense_Mutation_p.I418S|CTNND1_uc001nme.3_Missense_Mutation_p.I472S|CTNND1_uc001nll.3_Missense_Mutation_p.I418S|CTNND1_uc001nmg.3_Missense_Mutation_p.I418S|CTNND1_uc001nlj.3_Missense_Mutation_p.I418S|CTNND1_uc001nlr.3_Missense_Mutation_p.I418S|CTNND1_uc001nlp.3_Missense_Mutation_p.I418S|CTNND1_uc001nlx.3_Missense_Mutation_p.I149S|CTNND1_uc001nlz.3_Missense_Mutation_p.I149S|CTNND1_uc009ymn.2_Missense_Mutation_p.I149S|CTNND1_uc001nlm.3_Missense_Mutation_p.I472S|CTNND1_uc001nly.3_Missense_Mutation_p.I149S|CTNND1_uc001nmb.3_Missense_Mutation_p.I149S|CTNND1_uc001nma.3_Missense_Mutation_p.I149S|CTNND1_uc001nmi.3_Missense_Mutation_p.I371S|CTNND1_uc001nmh.3_Missense_Mutation_p.I472S|CTNND1_uc001nlq.3_Missense_Mutation_p.I371S|CTNND1_uc001nln.3_Missense_Mutation_p.I472S|CTNND1_uc001nli.3_Missense_Mutation_p.I472S|CTNND1_uc001nlo.3_Missense_Mutation_p.I371S|CTNND1_uc001nlv.3_Missense_Mutation_p.I371S	p.I472S	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			7	1986	+		all_epithelial(135;0.155)	472			ARM 3.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1415T>G	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474212	0.84640	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.049456	0.85682	D	0.000000	T	0.77025	0.4070	L	0.49350	1.555	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.984;0.999;0.999	D;D;D;D;D;D;D;D;D	0.69824	0.943;0.943;0.966;0.943;0.943;0.943;0.917;0.943;0.966	T	0.79633	-0.1722	10	0.87932	D	0	-6.5556	15.0043	0.71498	0.0:0.0:0.0:1.0	.	472;472;472;371;418;418;472;472;472	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	S	472;472;472;472;472;418;371;472;472;472;371;371;472;371;149;418;418;418;472;149;371;149;149;418;149;418;418;371;371;371;418;472	ENSP00000436543:I472S;ENSP00000434808:I472S;ENSP00000381996:I472S;ENSP00000353902:I472S;ENSP00000354907:I472S;ENSP00000436323:I418S;ENSP00000409930:I371S;ENSP00000382004:I472S;ENSP00000354785:I472S;ENSP00000354823:I472S;ENSP00000432075:I371S;ENSP00000437156:I371S;ENSP00000351527:I472S;ENSP00000434949:I371S;ENSP00000437051:I149S;ENSP00000435379:I418S;ENSP00000432243:I418S;ENSP00000436744:I418S;ENSP00000413586:I472S;ENSP00000434900:I149S;ENSP00000435266:I371S;ENSP00000432623:I149S;ENSP00000433158:I149S;ENSP00000435494:I418S;ENSP00000434672:I149S;ENSP00000433276:I418S;ENSP00000433334:I418S;ENSP00000437327:I371S;ENSP00000403518:I371S;ENSP00000434017:I371S;ENSP00000435789:I418S;ENSP00000432041:I472S	ENSP00000351527:I472S	I	+	2	0	CTNND1	57326239	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.655000	0.83696	2.071000	0.62044	0.455000	0.32223	ATT		PASS	0.428	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		68	189	68	189	---	---	---	---
MS4A6A	64231	broad.mit.edu	37	11	59943081	59943081	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:59943081G>A	ENST00000530839.1	-	6	835	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	MS4A6A_ENST00000323961.3_Missense_Mutation_p.H115Y|MS4A6A_ENST00000412309.2_Missense_Mutation_p.H143Y|MS4A6A_ENST00000528851.1_Missense_Mutation_p.H115Y|MS4A6A_ENST00000533023.1_Missense_Mutation_p.H51Y|MS4A6A_ENST00000420732.2_Missense_Mutation_p.H115Y|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000529054.1_Missense_Mutation_p.H143Y|MS4A6A_ENST00000426738.2_Missense_Mutation_p.H70Y	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	115						integral component of membrane (GO:0016021)		p.H115Y(1)|p.H143Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCTGCTATGCACCTGAAAG	0.443																																						uc001nor.2																			2	Substitution - Missense(2)		lung(2)		0						c.(343-345)CAT>TAT		membrane-spanning 4-domains, subfamily A, member							95.0	84.0	88.0					11																	59943081		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59943081G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.343C>T	11.37:g.59943081G>A	ENSP00000436979:p.His115Tyr					MS4A6A_uc001noq.2_Missense_Mutation_p.H115Y|MS4A6A_uc001nos.3_Missense_Mutation_p.H143Y|MS4A6A_uc009ymv.2_Missense_Mutation_p.H115Y|MS4A6A_uc001not.2_Missense_Mutation_p.H115Y|MS4A6A_uc010rla.1_Missense_Mutation_p.H143Y|MS4A6A_uc010rlb.1_Missense_Mutation_p.H70Y	p.H115Y	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			5	581	-			115			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.343C>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	1.960	-0.439155	0.04636	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023	T;T;T;T;T;T;T;T	0.23754	4.37;4.37;4.37;4.37;4.37;4.37;4.37;1.89	4.99	-0.423	0.12325	.	1.381260	0.05218	N	0.508058	T	0.30792	0.0776	L	0.39898	1.24	0.09310	N	1	B;D;D;D;B	0.63880	0.005;0.962;0.993;0.969;0.002	B;P;P;P;B	0.57620	0.008;0.592;0.824;0.715;0.002	T	0.14392	-1.0474	10	0.54805	T	0.06	.	1.3306	0.02134	0.1692:0.145:0.3877:0.2981	.	70;143;143;115;115	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	Y	115;115;115;115;143;70;143;51	ENSP00000315878:H115Y;ENSP00000431901:H115Y;ENSP00000392921:H115Y;ENSP00000436979:H115Y;ENSP00000435844:H143Y;ENSP00000392770:H70Y;ENSP00000403212:H143Y;ENSP00000436172:H51Y	ENSP00000315878:H115Y	H	-	1	0	MS4A6A	59699657	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.109000	0.10840	-0.142000	0.11354	-0.136000	0.14681	CAT		PASS	0.443	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			11	53	11	53	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60182994	60182994	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:60182994C>A	ENST00000300187.6	+	5	830	c.553C>A	c.(553-555)Caa>Aaa	p.Q185K	MS4A14_ENST00000531787.1_Missense_Mutation_p.Q73K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q168K|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q218K|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	185						integral component of membrane (GO:0016021)		p.Q185K(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATTTGTGCTTCAAGAAGAGTT	0.368																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(553-555)CAA>AAA		membrane-spanning 4-domains, subfamily A, member							131.0	128.0	129.0					11																	60182994		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60182994C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.553C>A	11.37:g.60182994C>A	ENSP00000300187:p.Gln185Lys					MS4A14_uc001npi.2_Missense_Mutation_p.Q73K|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.Q168K|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.Q185K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1118	+			185					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.553C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324191	0.41197	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.19669	4.37;4.37;4.37;2.13	3.73	3.73	0.42828	.	.	.	.	.	T	0.40094	0.1103	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69824	0.943;0.966	T	0.20505	-1.0273	9	0.66056	D	0.02	-8.0118	11.3443	0.49552	0.0:1.0:0.0:0.0	.	168;185	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	73;185;168;218	ENSP00000437222:Q73K;ENSP00000300187:Q185K;ENSP00000378453:Q168K;ENSP00000433761:Q218K	ENSP00000300187:Q185K	Q	+	1	0	MS4A14	59939570	0.999000	0.42202	0.786000	0.31890	0.065000	0.16274	1.529000	0.35996	2.371000	0.80710	0.650000	0.86243	CAA		PASS	0.368	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			12	108	12	108	---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61290739	61290739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:61290739G>T	ENST00000263846.4	-	8	1242	c.915C>A	c.(913-915)taC>taA	p.Y305*	SYT7_ENST00000539008.1_Nonsense_Mutation_p.Y588*|SYT7_ENST00000540677.1_Nonsense_Mutation_p.Y380*|SYT7_ENST00000535826.1_Nonsense_Mutation_p.Y424*|SYT7_ENST00000542670.1_Nonsense_Mutation_p.Y513*|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000542836.1_Nonsense_Mutation_p.Y349*	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	305	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.Y305*(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATACCTTCACGTAGGGGTCTA	0.557																																						uc001nrv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(913-915)TAC>TAA		synaptotagmin VII							128.0	107.0	114.0					11																	61290739		2202	4299	6501	SO:0001587	stop_gained	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61290739G>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.915C>A	11.37:g.61290739G>T	ENSP00000263846:p.Tyr305*					SYT7_uc009ynr.2_Nonsense_Mutation_p.Y380*	p.Y305*	NM_004200	NP_004191	O43581	SYT7_HUMAN			8	921	-			305			C2 2.|Cytoplasmic (Potential).		F5GZU9|Q08AH6	Nonsense_Mutation	SNP	ENST00000263846.4	37	c.915C>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539513	0.85917	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	.	.	.	4.53	-1.69	0.08186	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0387	0.47818	0.6096:0.0:0.3904:0.0	.	.	.	.	X	305;380;588;349;513;424	.	ENSP00000263846:Y305X	Y	-	3	2	SYT7	61047315	0.002000	0.14202	0.994000	0.49952	0.958000	0.62258	-1.285000	0.02791	-0.194000	0.10399	-1.036000	0.02392	TAC		PASS	0.557	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		11	75	11	75	---	---	---	---
SLC22A12	116085	broad.mit.edu	37	11	64368969	64368969	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:64368969G>C	ENST00000377574.1	+	10	2355	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	SLC22A12_ENST00000473690.1_Missense_Mutation_p.K315N|SLC22A12_ENST00000377572.1_Missense_Mutation_p.K428N|SLC22A12_ENST00000377567.2_Missense_Mutation_p.K428N|SLC22A12_ENST00000336464.7_Missense_Mutation_p.K502N	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	536					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.K536N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GGGCAGTAAAGAAGGCAACAC	0.572																																						uc001oam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1606-1608)AAG>AAC		urate anion exchanger 1 isoform a							136.0	93.0	107.0					11																	64368969		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64368969G>C	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1608G>C	11.37:g.64368969G>C	ENSP00000366797:p.Lys536Asn					SLC22A12_uc001oal.1_Missense_Mutation_p.K315N|SLC22A12_uc009yps.1_Missense_Mutation_p.K502N|SLC22A12_uc001oan.1_Missense_Mutation_p.K428N	p.K536N	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			10	2355	+			536					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.1608G>C	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024992	0.35701	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.66995	-0.19;-0.2;-0.19;-0.24;-0.17	3.31	3.31	0.37934	.	.	.	.	.	T	0.65842	0.2730	L	0.56199	1.76	0.22266	N	0.999249	P;P;P	0.48016	0.651;0.904;0.651	B;P;B	0.46718	0.153;0.525;0.153	T	0.58423	-0.7639	9	0.56958	D	0.05	.	10.4101	0.44287	0.0:0.0:1.0:0.0	.	502;428;536	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	N	428;536;428;315;502	ENSP00000366790:K428N;ENSP00000366797:K536N;ENSP00000366795:K428N;ENSP00000438437:K315N;ENSP00000336836:K502N	ENSP00000336836:K502N	K	+	3	2	SLC22A12	64125545	0.992000	0.36948	0.335000	0.25508	0.054000	0.15201	1.979000	0.40608	2.157000	0.67596	0.561000	0.74099	AAG		PASS	0.572	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		4	41	4	41	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64374839	64374839	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:64374839G>A	ENST00000377551.1	-	22	5179	c.4968C>T	c.(4966-4968)gcC>gcT	p.A1656A	NRXN2_ENST00000377559.3_Silent_p.A1586A|NRXN2_ENST00000409571.1_Silent_p.A1649A|NRXN2_ENST00000301894.2_Silent_p.A610A|NRXN2_ENST00000265459.6_Silent_p.A1656A			Q9P2S2	NRX2A_HUMAN	neurexin 2	1656					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A1656A(1)|p.A610A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ACTTATACATGGCGTAGAGGA	0.617																																						uc001oap.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1828-1830)GCC>GCT		neurexin 2 isoform beta precursor							63.0	56.0	58.0					11																	64374839		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64374839G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4968C>T	11.37:g.64374839G>A						NRXN2_uc001oar.2_Silent_p.A1656A|NRXN2_uc001oas.2_Silent_p.A1586A|NRXN2_uc001oao.2_Silent_p.A296A|NRXN2_uc001oaq.2_Silent_p.A1323A	p.A610A	NM_138734	NP_620063	P58401	NRX2B_HUMAN			8	2341	-			610			Helical; (Potential).		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1830C>T	CCDS8077.1																																																																																				PASS	0.617	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		7	56	7	56	---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71193945	71193945	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:71193945A>G	ENST00000319023.2	+	14	1389	c.1201A>G	c.(1201-1203)Acc>Gcc	p.T401A	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Missense_Mutation_p.T30A|NADSYN1_ENST00000539574.1_Missense_Mutation_p.T141A	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	401	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.T401A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GATCAGCTACACCCCCCAGGA	0.577																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1201-1203)ACC>GCC		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						131.0	100.0	110.0					11																	71193945		2200	4293	6493	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71193945A>G	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1201A>G	11.37:g.71193945A>G	ENSP00000326424:p.Thr401Ala					NADSYN1_uc001oqo.2_Missense_Mutation_p.T141A|NADSYN1_uc001oqp.2_Missense_Mutation_p.T30A	p.T401A	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			14	1327	+			401			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1201A>G	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	A	7.823	0.718192	0.15372	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T	0.29655	2.56;1.98;1.56	4.06	4.06	0.47325	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.433787	0.23284	N	0.049873	T	0.33644	0.0870	M	0.72118	2.19	0.27671	N	0.946741	B;B	0.23540	0.087;0.087	B;B	0.36766	0.232;0.217	T	0.29366	-1.0014	10	0.13470	T	0.59	-36.9067	7.8667	0.29541	0.7896:0.2104:0.0:0.0	.	141;401	B3KUU4;Q6IA69	.;NADE_HUMAN	A	401;141;30;30	ENSP00000326424:T401A;ENSP00000443718:T141A;ENSP00000431820:T30A	ENSP00000326424:T401A	T	+	1	0	NADSYN1	70871593	0.082000	0.21442	0.996000	0.52242	0.087000	0.18053	1.104000	0.31074	1.613000	0.50231	0.459000	0.35465	ACC		PASS	0.577	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		10	58	10	58	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71719783	71719783	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:71719783C>G	ENST00000393695.3	-	20	5498	c.5167G>C	c.(5167-5169)Gac>Cac	p.D1723H	NUMA1_ENST00000358965.6_Missense_Mutation_p.D1709H|NUMA1_ENST00000351960.6_Missense_Mutation_p.D587H	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.D1723H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCAGGCTGTCAATACTCAAG	0.562			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5167-5169)GAC>CAC		nuclear mitotic apparatus protein 1							78.0	77.0	77.0					11																	71719783		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71719783C>G	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5167G>C	11.37:g.71719783C>G	ENSP00000377298:p.Asp1723His					NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.D1272H|NUMA1_uc001ork.1_Missense_Mutation_p.D587H|NUMA1_uc001orm.1_Missense_Mutation_p.D1709H|NUMA1_uc001orn.2_Missense_Mutation_p.D1286H	p.D1723H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			20	5339	-			1723						Missense_Mutation	SNP	ENST00000393695.3	37	c.5167G>C	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.128299|4.128299	0.77549|0.77549	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.31769|.	1.48;1.91;1.9|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|T	0.57286|0.57286	0.2043|0.2043	L|L	0.29908|0.29908	0.895|0.895	0.49798|0.49798	D|D	0.99982|0.99982	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.997;1.0;0.999;0.999|.	T|T	0.52313|0.52313	-0.8592|-0.8592	10|5	0.66056|.	D|.	0.02|.	.|.	17.8772|17.8772	0.88828|0.88828	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1729;1193;1709;1723;587|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	H|F	587;1709;1723;1272;678|553	ENSP00000260051:D587H;ENSP00000351851:D1709H;ENSP00000377298:D1723H|.	ENSP00000260051:D587H|.	D|L	-|-	1|3	0|2	NUMA1|NUMA1	71397431|71397431	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.363000|5.363000	0.66104|0.66104	2.618000|2.618000	0.88619|0.88619	0.561000|0.561000	0.74099|0.74099	GAC|TTG		PASS	0.562	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			21	88	21	88	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78467899	78467899	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:78467899C>A	ENST00000278550.7	-	19	3169	c.2707G>T	c.(2707-2709)Ggc>Tgc	p.G903C	RP11-673F18.1_ENST00000526741.1_RNA	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	903					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G903C(2)									CTGTCCCTGCCCACGAGGAAC	0.592																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(2707-2709)GGC>TGC		odz, odd Oz/ten-m homolog 4							77.0	78.0	77.0					11																	78467899		2042	4198	6240	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78467899C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2707G>T	11.37:g.78467899C>A	ENSP00000278550:p.Gly903Cys						p.G903C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			19	3170	-			903			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2707G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763579	0.89932	.	.	ENSG00000149256	ENST00000278550	D	0.90197	-2.63	5.05	4.14	0.48551	.	0.055211	0.64402	D	0.000001	D	0.93953	0.8064	M	0.86573	2.825	0.80722	D	1	D	0.64830	0.994	P	0.54401	0.751	D	0.94209	0.7457	9	.	.	.	.	13.4541	0.61189	0.0:0.9243:0.0:0.0757	.	903	Q6N022	TEN4_HUMAN	C	903	ENSP00000278550:G903C	.	G	-	1	0	ODZ4	78145547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.892000	0.69790	1.341000	0.45600	0.563000	0.77884	GGC		PASS	0.592	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			6	34	6	34	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911308	88911308	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:88911308G>A	ENST00000263321.5	+	1	689	c.187G>A	c.(187-189)Gca>Aca	p.A63T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	63					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A63T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TCTGTCCAATGCACCACTTGG	0.552																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(187-189)GCA>ACA		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						59.0	49.0	52.0					11																	88911308		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911308G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.187G>A	11.37:g.88911308G>A	ENSP00000263321:p.Ala63Thr						p.A63T	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	269	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	63			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.187G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969876	0.53614	.	.	ENSG00000077498	ENST00000263321	D	0.99121	-5.45	6.07	6.07	0.98685	.	0.224693	0.48286	D	0.000193	D	0.99221	0.9729	M	0.80028	2.48	0.35705	D	0.815908	D	0.89917	1.0	D	0.91635	0.999	D	0.99963	1.1778	9	.	.	.	.	15.3849	0.74691	0.0:0.0:0.8607:0.1393	.	63	P14679	TYRO_HUMAN	T	63	ENSP00000263321:A63T	.	A	+	1	0	TYR	88550956	1.000000	0.71417	0.880000	0.34516	0.620000	0.37586	3.819000	0.55686	2.885000	0.99019	0.655000	0.94253	GCA		PASS	0.552	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		5	39	5	39	---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110450560	110450560	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr11:110450560C>A	ENST00000260283.4	-	16	3394	c.3110G>T	c.(3109-3111)tGg>tTg	p.W1037L	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.W1001L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.W1001L|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.W1011L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.W1011L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.W1014L|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.W580L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1037					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.W1037L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATTTCTCAACCATGTGCTGGG	0.493																																						uc001pkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(2)	5						c.(3109-3111)TGG>TTG		Rho GTPase activating protein 20							93.0	97.0	96.0					11																	110450560		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450560C>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3110G>T	11.37:g.110450560C>A	ENSP00000260283:p.Trp1037Leu					ARHGAP20_uc001pky.1_Missense_Mutation_p.W1014L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.W1001L|ARHGAP20_uc001pla.1_Missense_Mutation_p.W1001L|ARHGAP20_uc001plb.2_Missense_Mutation_p.W580L	p.W1037L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3395	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1037					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.3110G>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130702	0.77549	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.38722	1.12;1.13;1.19;1.12;1.15;1.13;1.15	5.63	5.63	0.86233	.	0.090145	0.49305	D	0.000141	T	0.63200	0.2491	M	0.67953	2.075	0.41991	D	0.990849	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.69479	0.964;0.863;0.913	T	0.58498	-0.7626	10	0.33141	T	0.24	.	19.3637	0.94453	0.0:1.0:0.0:0.0	.	1011;1037;1014	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	L	1037;1011;580;1014;1001;1011;1001	ENSP00000260283:W1037L;ENSP00000349660:W1011L;ENSP00000437905:W580L;ENSP00000432076:W1014L;ENSP00000436319:W1001L;ENSP00000436522:W1011L;ENSP00000431399:W1001L	ENSP00000260283:W1037L	W	-	2	0	ARHGAP20	109955770	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.888000	0.69758	2.673000	0.90976	0.650000	0.86243	TGG		PASS	0.493	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		18	138	18	138	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154720	5154720	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:5154720C>A	ENST00000252321.3	+	1	1636	c.1407C>A	c.(1405-1407)gaC>gaA	p.D469E		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	469					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.D469E(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCATCCCTGACGCCTTCTGGT	0.582																																						uc001qni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1405-1407)GAC>GAA		potassium voltage-gated channel, shaker-related							105.0	98.0	100.0					12																	5154720		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154720C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1407C>A	12.37:g.5154720C>A	ENSP00000252321:p.Asp469Glu						p.D469E	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1636	+			469					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1407C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494029	0.44352	.	.	ENSG00000130037	ENST00000252321	D	0.98221	-4.8	4.87	-3.22	0.05125	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96046	0.8712	L	0.31845	0.965	0.51233	D	0.999919	P	0.44734	0.842	P	0.54815	0.761	D	0.91420	0.5158	10	0.40728	T	0.16	.	6.0014	0.19523	0.1179:0.3539:0.0:0.5282	.	469	P22460	KCNA5_HUMAN	E	469	ENSP00000252321:D469E	ENSP00000252321:D469E	D	+	3	2	KCNA5	5024981	1.000000	0.71417	0.901000	0.35422	0.972000	0.66771	0.611000	0.24268	-0.457000	0.07033	-0.340000	0.08031	GAC		PASS	0.582	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		16	120	16	120	---	---	---	---
NTF3	4908	broad.mit.edu	37	12	5603793	5603793	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:5603793G>A	ENST00000331010.6	+	1	496	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R151Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	138					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.R138Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGCGGAAACGGTACGCGGAG	0.602																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(412-414)CGG>CAG		neurotrophin 3 isoform 2 preproprotein							90.0	85.0	87.0					12																	5603793		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603793G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.413G>A	12.37:g.5603793G>A	ENSP00000328738:p.Arg138Gln					NTF3_uc001qnk.3_Missense_Mutation_p.R151Q	p.R138Q	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	496	+			138					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.413G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265075	0.80358	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.70516	-0.49;-0.49	5.52	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.89601	3.045	0.47214	D	0.999355	P;D	0.54601	0.892;0.967	B;B	0.35859	0.212;0.212	T	0.76143	-0.3067	10	0.87932	D	0	-11.5385	11.2247	0.48877	0.1475:0.0:0.8525:0.0	.	138;151	P20783;B7Z1T5	NTF3_HUMAN;.	Q	151;138	ENSP00000397297:R151Q;ENSP00000328738:R138Q	ENSP00000328738:R138Q	R	+	2	0	NTF3	5474054	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	9.869000	0.99810	0.724000	0.32296	0.591000	0.81541	CGG		PASS	0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			6	180	6	180	---	---	---	---
A2M	2	broad.mit.edu	37	12	9251320	9251320	+	Silent	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:9251320G>C	ENST00000318602.7	-	15	2041	c.1734C>G	c.(1732-1734)ctC>ctG	p.L578L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	578					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.L578L(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GTGAGGCTGGGAGACTTTGTG	0.537																																						uc001qvk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(1732-1734)CTC>CTG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						48.0	48.0	48.0					12																	9251320		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9251320G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1734C>G	12.37:g.9251320G>C						A2M_uc009zgk.1_Silent_p.L428L	p.L578L	NM_000014	NP_000005	P01023	A2MG_HUMAN			15	1847	-			578					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1734C>G	CCDS44827.1																																																																																				PASS	0.537	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	10	7	10	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40681168	40681168	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:40681168T>C	ENST00000298910.7	+	20	2574	c.2516T>C	c.(2515-2517)cTa>cCa	p.L839P	LRRK2_ENST00000343742.2_Missense_Mutation_p.L839P	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	839					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L839P(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCATCTACACTAGCAAGAATG	0.358																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(2515-2517)CTA>CCA		leucine-rich repeat kinase 2							83.0	78.0	80.0					12																	40681168		2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40681168T>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2516T>C	12.37:g.40681168T>C	ENSP00000298910:p.Leu839Pro					LRRK2_uc001rmh.1_Missense_Mutation_p.L461P	p.L839P	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			20	2637	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	839					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2516T>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038885	0.55003	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.80304	1.29;-1.36	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000004	D	0.85314	0.5668	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86955	0.2088	10	0.72032	D	0.01	.	15.5872	0.76491	0.0:0.0:0.0:1.0	.	839;839	E9PC85;Q5S007	.;LRRK2_HUMAN	P	839	ENSP00000341930:L839P;ENSP00000298910:L839P	ENSP00000298910:L839P	L	+	2	0	LRRK2	38967435	1.000000	0.71417	0.961000	0.40146	0.449000	0.32228	5.430000	0.66501	2.079000	0.62486	0.397000	0.26171	CTA		PASS	0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		8	66	8	66	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42858718	42858718	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:42858718C>A	ENST00000455697.1	-	7	1403	c.1118G>T	c.(1117-1119)cGa>cTa	p.R373L	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R373L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R373L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R373L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R373L|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	373					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R373L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ATCCAATTTTCGAGAAAGGGT	0.478																																						uc010skv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1117-1119)CGA>CTA		prickle homolog 1							72.0	72.0	72.0					12																	42858718		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42858718C>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1118G>T	12.37:g.42858718C>A	ENSP00000401060:p.Arg373Leu					PRICKLE1_uc001rnl.2_Missense_Mutation_p.R373L|PRICKLE1_uc010skw.1_Missense_Mutation_p.R373L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R373L	p.R373L	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	7	1405	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		373					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1118G>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278465	0.23307	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.61	3.76	0.43208	.	0.233083	0.44483	D	0.000446	T	0.34861	0.0912	N	0.12182	0.205	0.22762	N	0.998762	B	0.33022	0.394	B	0.27887	0.084	T	0.14615	-1.0466	10	0.21540	T	0.41	-4.9619	12.9449	0.58367	0.0:0.8618:0.0:0.1382	.	373	Q96MT3	PRIC1_HUMAN	L	373	ENSP00000401060:R373L;ENSP00000398947:R373L;ENSP00000448359:R373L;ENSP00000345064:R373L;ENSP00000449819:R373L	ENSP00000345064:R373L	R	-	2	0	PRICKLE1	41144985	0.990000	0.36364	0.974000	0.42286	0.595000	0.36748	3.558000	0.53749	1.505000	0.48720	0.650000	0.86243	CGA		PASS	0.478	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			10	58	10	58	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48387245	48387245	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:48387245G>A	ENST00000380518.3	-	15	1129	c.965C>T	c.(964-966)cCa>cTa	p.P322L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P253L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	322	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P253L(1)|p.P322L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACTTACCATTGGGCCCGGAGA	0.512																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(964-966)CCA>CTA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						84.0	78.0	80.0					12																	48387245		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48387245G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.965C>T	12.37:g.48387245G>A	ENSP00000369889:p.Pro322Leu					COL2A1_uc001rqv.2_Missense_Mutation_p.P253L	p.P322L	NM_001844	NP_001835	P02458	CO2A1_HUMAN			15	1146	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	322			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.965C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834450	0.71373	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96685	-4.09;-4.09	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	D	0.97160	0.9837	10	0.52906	T	0.07	.	16.8276	0.85935	0.0:0.0:1.0:0.0	.	253;322	P02458-1;P02458	.;CO2A1_HUMAN	L	322;253;253	ENSP00000369889:P322L;ENSP00000338213:P253L	ENSP00000338213:P253L	P	-	2	0	COL2A1	46673512	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.047000	0.64232	2.583000	0.87209	0.655000	0.94253	CCA		PASS	0.512	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		16	62	16	62	---	---	---	---
PMEL	6490	broad.mit.edu	37	12	56355204	56355204	+	Silent	SNP	C	C	T	rs188708664		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:56355204C>T	ENST00000548747.1	-	3	893	c.231G>A	c.(229-231)ctG>ctA	p.L77L	PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000548493.1_Silent_p.L77L|PMEL_ENST00000449260.2_Silent_p.L77L|PMEL_ENST00000536427.1_Silent_p.L77L|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000360714.4_Silent_p.L77L|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Silent_p.L77L|PMEL_ENST00000550447.1_Silent_p.L40L			P40967	PMEL_HUMAN	premelanosome protein	77					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.L77L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGCACCAATCAGTGTAGGCC	0.498													c|||	1	0.000199681	0.0	0.0	5008	,	,		20985	0.0		0.001	False		,,,				2504	0.0					uc001sip.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)CTG>CTA		silver homolog							171.0	151.0	158.0					12																	56355204		2203	4300	6503	SO:0001819	synonymous_variant	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56355204C>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.231G>A	12.37:g.56355204C>T						SILV_uc001siq.2_Silent_p.L77L|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Silent_p.L77L	p.L77L	NM_006928	NP_008859	P40967	PMEL_HUMAN			3	262	-			77					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	c.231G>A	CCDS8897.1																																																																																				PASS	0.498	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		12	79	12	79	---	---	---	---
LEMD3	23592	broad.mit.edu	37	12	65564642	65564642	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:65564642C>T	ENST00000308330.2	+	1	1292	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	422					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.L422L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CTAGTTCACTCAGGATCAATC	0.517																																						uc001ssl.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1264-1266)CTC>CTT		LEM domain containing 3							79.0	82.0	81.0					12																	65564642		2203	4300	6503	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564642C>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1266C>T	12.37:g.65564642C>T						LEMD3_uc009zqo.1_Silent_p.L422L	p.L422L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	1272	+			422					Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.1266C>T	CCDS8972.1																																																																																				PASS	0.517	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			31	111	31	111	---	---	---	---
SOCS2	8835	broad.mit.edu	37	12	93968892	93968892	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:93968892C>T	ENST00000340600.2	+	3	1132	c.534C>T	c.(532-534)atC>atT	p.I178I	SOCS2_ENST00000536696.2_Silent_p.I178I|SOCS2_ENST00000549206.1_Silent_p.I178I|SOCS2_ENST00000549122.1_Silent_p.I178I|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000551556.1_Silent_p.I178I	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	178	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.I178I(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CCGGTGCCATCTGGGGACTGC	0.413																																						uc001tcw.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(532-534)ATC>ATT		suppressor of cytokine signaling-2							71.0	65.0	67.0					12																	93968892		2203	4300	6503	SO:0001819	synonymous_variant	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968892C>T	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.534C>T	12.37:g.93968892C>T						SOCS2_uc001tcx.1_Silent_p.I178I|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.I178I|SOCS2_uc001tcz.2_3'UTR	p.I178I	NM_003877	NP_003868	O14508	SOCS2_HUMAN			3	1124	+			178			SOCS box.		A8K3D1|O14542|O95102|Q9UKS5	Silent	SNP	ENST00000340600.2	37	c.534C>T	CCDS9047.1																																																																																				PASS	0.413	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			21	87	21	87	---	---	---	---
TCTN1	79600	broad.mit.edu	37	12	111079360	111079360	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr12:111079360C>T	ENST00000551590.1	+	10	1274	c.1118C>T	c.(1117-1119)cCa>cTa	p.P373L	TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.P359L|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.P373L			Q2MV58	TECT1_HUMAN	tectonic family member 1	373					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.P373L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AATACCCAGCCAGTCCCTCTC	0.423																																						uc009zvs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)CCA>CTA		tectonic family member 1 isoform 2							109.0	101.0	103.0					12																	111079360		1840	4101	5941	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111079360C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1118C>T	12.37:g.111079360C>T	ENSP00000448735:p.Pro373Leu					TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.P313L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.P359L|TCTN1_uc001trn.3_Missense_Mutation_p.P373L|TCTN1_uc001trj.1_Missense_Mutation_p.P317L|TCTN1_uc001trk.3_Intron|HVCN1_uc001trq.1_Intron	p.P373L	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			10	1226	+			373					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.1118C>T	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003553	0.74932	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D	0.82081	-1.57;-1.57;-1.57	5.56	5.56	0.83823	Domain of unknown function DUF1619 (1);	1.727610	0.04167	U	0.324120	D	0.92893	0.7739	M	0.77820	2.39	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	0.83275	0.99;0.992;0.992;0.981;0.996	T	0.82690	-0.0332	10	0.32370	T	0.25	-20.5113	19.5299	0.95225	0.0:1.0:0.0:0.0	.	373;359;373;313;317	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	L	313;373;359;195;373;317	ENSP00000448735:P373L;ENSP00000380775:P359L;ENSP00000380779:P373L	ENSP00000380771:P313L	P	+	2	0	TCTN1	109563743	0.997000	0.39634	0.894000	0.35097	0.442000	0.32017	5.359000	0.66074	2.622000	0.88805	0.655000	0.94253	CCA		PASS	0.423	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		24	102	24	102	---	---	---	---
ALG5	29880	broad.mit.edu	37	13	37573414	37573414	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr13:37573414C>T	ENST00000239891.3	-	1	90	c.24G>A	c.(22-24)ctG>ctA	p.L8L	ALG5_ENST00000443765.1_Silent_p.L8L|ALG5_ENST00000413537.2_Silent_p.L8L|EXOSC8_ENST00000489088.1_Intron|EXOSC8_ENST00000389704.3_5'Flank|ALG5_ENST00000496689.1_Intron	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	8					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)	p.L8L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		CGAGCACCGCCAGCTGCAACA	0.731																																						uc001uvy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CTG>CTA		dolichyl-phosphate beta-glucosyltransferase							18.0	22.0	21.0					13																	37573414		2144	4213	6357	SO:0001819	synonymous_variant	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37573414C>T	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.24G>A	13.37:g.37573414C>T						ALG5_uc010teq.1_Silent_p.L8L|ALG5_uc010ter.1_RNA|EXOSC8_uc001uvz.2_5'Flank|EXOSC8_uc001uwb.2_5'Flank|EXOSC8_uc001uwa.2_5'Flank|EXOSC8_uc001uwc.2_5'Flank	p.L8L	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	1	91	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	8			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DR37|Q5TBA6	Silent	SNP	ENST00000239891.3	37	c.24G>A	CCDS9361.1																																																																																				PASS	0.731	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		16	20	16	20	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48881542	48881542	+	Splice_Site	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr13:48881542G>T	ENST00000267163.4	+	2	402	c.264G>T	c.(262-264)ttG>ttT	p.L88F		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	88					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.L88F(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGGAGTATTGGTAAGGATTT	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		20	Whole gene deletion(15)|Unknown(3)|Substitution - Missense(2)	p.0?(13)|p.?(3)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(262-264)TTG>TTT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						109.0	111.0	111.0					13																	48881542		2203	4299	6502	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881542G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.264+1G>T	13.37:g.48881542G>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.L88F	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	430	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	88					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.264G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584831	0.46110	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.65916	-0.18	5.01	5.01	0.66863	.	0.599174	0.16637	N	0.205817	T	0.51058	0.1652	L	0.36672	1.1	0.80722	D	1	P	0.46706	0.883	B	0.38378	0.272	T	0.52975	-0.8503	10	0.37606	T	0.19	.	14.1726	0.65519	0.0:0.0:1.0:0.0	.	88	P06400	RB_HUMAN	F	67;88	ENSP00000267163:L88F	ENSP00000267163:L88F	L	+	3	2	RB1	47779543	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.055000	0.49916	2.482000	0.83794	0.650000	0.86243	TTG		PASS	0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Missense_Mutation	61	84	61	84	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389096	20389096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr14:20389096G>T	ENST00000315915.4	+	1	356	c.331G>T	c.(331-333)Gag>Tag	p.E111*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111*(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTGGAGGGGAGATGGTGCT	0.433																																						uc010tkw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(331-333)GAG>TAG		olfactory receptor, family 4, subfamily K,							213.0	222.0	219.0					14																	20389096		2203	4300	6503	SO:0001587	stop_gained	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389096G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.331G>T	14.37:g.20389096G>T	ENSP00000319511:p.Glu111*						p.E111*	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	331	+	all_cancers(95;0.00108)		111			Helical; Name=3; (Potential).		Q6IFA7	Nonsense_Mutation	SNP	ENST00000315915.4	37	c.331G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.907458	0.92107	.	.	ENSG00000176281	ENST00000315915	.	.	.	4.41	4.41	0.53225	.	0.000000	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5138	0.67807	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000319511:E111X	E	+	1	0	OR4K5	19458936	0.941000	0.31946	0.927000	0.36925	0.906000	0.53458	2.006000	0.40874	2.269000	0.75478	0.655000	0.94253	GAG		PASS	0.433	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		47	580	47	580	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24652691	24652691	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr14:24652691C>A	ENST00000354464.6	-	21	2268	c.2092G>T	c.(2092-2094)Gtc>Ttc	p.V698F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	698					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.V698F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCTTCAAAGACACTTTCCATG	0.587																																						uc001wmv.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(2092-2094)GTC>TTC		importin 4							37.0	41.0	40.0					14																	24652691		1918	4116	6034	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24652691C>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2092G>T	14.37:g.24652691C>A	ENSP00000346453:p.Val698Phe					IPO4_uc001wmt.1_Missense_Mutation_p.V176F|IPO4_uc001wmu.2_Missense_Mutation_p.V360F|IPO4_uc001wmx.1_Missense_Mutation_p.V562F|IPO4_uc001wmy.1_Missense_Mutation_p.V562F|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.V698F	p.V698F	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	21	2223	-			698					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.2092G>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109883	0.37242	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.68331	-0.32	5.4	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.652547	0.15946	N	0.236972	T	0.52386	0.1731	L	0.27053	0.805	0.22880	N	0.998615	B;B	0.26400	0.148;0.006	B;B	0.28638	0.092;0.016	T	0.50021	-0.8876	10	0.66056	D	0.02	-10.1787	7.468	0.27332	0.0:0.8094:0.0:0.1906	.	698;698	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	F	698;374	ENSP00000346453:V698F	ENSP00000346453:V698F	V	-	1	0	IPO4	23722531	0.011000	0.17503	0.672000	0.29872	0.998000	0.95712	0.252000	0.18278	1.488000	0.48433	0.655000	0.94253	GTC		PASS	0.587	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		3	55	3	55	---	---	---	---
KLHDC2	23588	broad.mit.edu	37	14	50246318	50246318	+	Silent	SNP	A	A	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr14:50246318A>G	ENST00000298307.5	+	7	1500	c.639A>G	c.(637-639)aaA>aaG	p.K213K	KLHDC2_ENST00000557247.1_Silent_p.K213K|KLHDC2_ENST00000554589.1_Silent_p.K213K	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	213						nucleus (GO:0005634)		p.K213K(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AATAGGGTAAAGCACCTTCAC	0.418																																						uc001wwx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(637-639)AAA>AAG		kelch domain containing 2							103.0	91.0	95.0					14																	50246318		2203	4300	6503	SO:0001819	synonymous_variant	23588					nucleus	protein binding	g.chr14:50246318A>G	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.639A>G	14.37:g.50246318A>G						SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Silent_p.K213K|KLHDC2_uc010anp.2_Silent_p.K213K	p.K213K	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN			7	1039	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		213					B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	c.639A>G	CCDS9693.1																																																																																				PASS	0.418	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			17	22	17	22	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28456229	28456229	+	Missense_Mutation	SNP	G	G	A	rs376972283		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr15:28456229G>A	ENST00000261609.7	-	44	7096	c.6988C>T	c.(6988-6990)Cgg>Tgg	p.R2330W		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2330W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAGCGCCCGACCTGCTTTC	0.547																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(6988-6990)CGG>TGG		hect domain and RLD 2		G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	63.0	59.0	61.0		6988	3.8	0.2	15		61	0,8596		0,0,4298	no	missense	HERC2	NM_004667.4	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2330/4835	28456229	1,12999	2202	4298	6500	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28456229G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6988C>T	15.37:g.28456229G>A	ENSP00000261609:p.Arg2330Trp						p.R2330W	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	44	7094	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2330						Missense_Mutation	SNP	ENST00000261609.7	37	c.6988C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526308	0.64860	2.27E-4	0.0	ENSG00000128731	ENST00000261609	T	0.44881	0.91	4.71	3.8	0.43715	.	0.152547	0.44285	N	0.000462	T	0.53867	0.1823	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	P	0.56648	0.803	T	0.58999	-0.7536	10	0.72032	D	0.01	.	12.746	0.57281	0.0793:0.0:0.9207:0.0	.	2330	O95714	HERC2_HUMAN	W	2330	ENSP00000261609:R2330W	ENSP00000261609:R2330W	R	-	1	2	HERC2	26129824	1.000000	0.71417	0.190000	0.23270	0.376000	0.30014	4.502000	0.60400	1.194000	0.43101	0.462000	0.41574	CGG		PASS	0.547	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	130	5	130	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90340950	90340950	+	Silent	SNP	G	G	C	rs150492701	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr15:90340950G>C	ENST00000300060.6	-	15	2326	c.2013C>G	c.(2011-2013)gcC>gcG	p.A671A	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	671	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.A671A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGACCTTATGGGCACTGGGAA	0.597													G|||	6	0.00119808	0.0	0.0	5008	,	,		16816	0.0		0.006	False		,,,				2504	0.0				NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2011-2013)GCC>GCG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)	G		12,4388	20.2+/-43.8	0,12,2188	100.0	98.0	98.0		2013	-2.1	0.1	15	dbSNP_134	98	80,8518	45.8+/-104.6	0,80,4219	no	coding-synonymous	ANPEP	NM_001150.2		0,92,6407	CC,CG,GG		0.9304,0.2727,0.7078		671/968	90340950	92,12906	2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90340950G>C	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2013C>G	15.37:g.90340950G>C							p.A671A	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		15	2305	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		671			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.2013C>G	CCDS10356.1																																																																																				PASS	0.597	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			5	123	5	123	---	---	---	---
CD19	930	broad.mit.edu	37	16	28944428	28944429	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr16:28944428_28944429CA>AC	ENST00000324662.3	+	3	596_597	c.552_553CA>AC	c.(550-555)ctCAgc>ctACgc	p.S185R	CD19_ENST00000567541.1_Missense_Mutation_p.S185R|CD19_ENST00000538922.1_Missense_Mutation_p.S185R			P15391	CD19_HUMAN	CD19 molecule	185	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.S185R(2)|p.L184L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACCAGAGCCTCAGCCAGGGTAT	0.609																																						uc002drs.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(550-552)CTC>CTA|c.(553-555)AGC>CGC		CD19 antigen precursor																																				SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28944428C>A|g.chr16:28944429A>C		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	Exception_encountered	16.37:g.28944428_28944429delinsAC	ENSP00000313419:p.Ser185Arg					uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L184L|uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.S185R	p.L184L|p.S185R	NM_001770	NP_001761	P15391	CD19_HUMAN			3	614|615	+			184|185			Extracellular (Potential).|Ig-like C2-type 2.		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent|Missense_Mutation	SNP	ENST00000324662.3	37	c.552C>A|c.553A>C	CCDS10644.1																																																																																				PASS	0.609	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			11|12	56|55	11	55	---	---	---	---
CLEC18B	497190	broad.mit.edu	37	16	74443468	74443468	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr16:74443468T>G	ENST00000339953.5	-	12	1431	c.1310A>C	c.(1309-1311)aAc>aCc	p.N437T		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	437	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.N437T(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATGTAACGGTTTCGGGTTTT	0.602																																						uc002fct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)AAC>ACC		C-type lectin domain family 18, member B							41.0	41.0	41.0					16																	74443468		2195	4278	6473	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443468T>G	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1310A>C	16.37:g.74443468T>G	ENSP00000341051:p.Asn437Thr					CLEC18B_uc002fcu.2_Missense_Mutation_p.N428T	p.N437T	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN			12	1510	-			437			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1310A>C	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	t	18.02	3.529997	0.64860	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.54866	0.55	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	L	0.50333	1.59	0.38418	D	0.946107	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.62676	-0.6804	10	0.38643	T	0.18	.	8.5986	0.33732	0.0:0.0:0.0:1.0	.	428;437	C9JSV1;Q6UXF7	.;CL18B_HUMAN	T	428;437	ENSP00000341051:N437T	ENSP00000341051:N437T	N	-	2	0	CLEC18B	73000969	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.713000	0.61895	1.519000	0.48950	0.352000	0.21897	AAC		PASS	0.602	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		4	104	4	104	---	---	---	---
CLEC18B	497190	broad.mit.edu	37	16	74443487	74443487	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr16:74443487G>C	ENST00000339953.5	-	12	1412	c.1291C>G	c.(1291-1293)Cag>Gag	p.Q431E		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	431	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.Q431E(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCAGCGCTGGTCGTTCCAG	0.592																																						uc002fct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1291-1293)CAG>GAG		C-type lectin domain family 18, member B							68.0	64.0	65.0					16																	74443487		2196	4293	6489	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443487G>C	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1291C>G	16.37:g.74443487G>C	ENSP00000341051:p.Gln431Glu					CLEC18B_uc002fcu.2_Missense_Mutation_p.Q422E	p.Q431E	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN			12	1491	-			431			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1291C>G	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	19.31	3.802363	0.70682	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.16457	2.34	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.078974	0.51477	D	0.000081	T	0.21590	0.0520	N	0.13140	0.3	0.39400	D	0.966577	D;D	0.69078	0.992;0.997	D;D	0.79108	0.987;0.992	T	0.06006	-1.0851	10	0.38643	T	0.18	.	10.7141	0.46002	0.0:0.0:1.0:0.0	.	422;431	C9JSV1;Q6UXF7	.;CL18B_HUMAN	E	422;431	ENSP00000341051:Q431E	ENSP00000341051:Q431E	Q	-	1	0	CLEC18B	73000988	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	6.063000	0.71162	1.866000	0.54105	0.430000	0.28490	CAG		PASS	0.592	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		5	115	5	115	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75263782	75263782	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr16:75263782T>C	ENST00000162330.5	-	7	2366	c.2240A>G	c.(2239-2241)tAc>tGc	p.Y747C	BCAR1_ENST00000418647.3_Missense_Mutation_p.Y793C|BCAR1_ENST00000393420.6_Missense_Mutation_p.Y765C|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.Y765C|BCAR1_ENST00000538440.2_Missense_Mutation_p.Y747C|BCAR1_ENST00000546196.1_Missense_Mutation_p.Y718C|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Missense_Mutation_p.Y765C|BCAR1_ENST00000542031.2_Missense_Mutation_p.Y745C|BCAR1_ENST00000535626.2_Missense_Mutation_p.Y599C	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	747	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.Y793C(1)|p.Y747C(1)|p.Y765C(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCTCCAGGTAGAAGAGCAG	0.672																																						uc002fdv.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(2239-2241)TAC>TGC		breast cancer anti-estrogen resistance 1							52.0	54.0	53.0					16																	75263782		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263782T>C	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2240A>G	16.37:g.75263782T>C	ENSP00000162330:p.Tyr747Cys					BCAR1_uc002fdt.2_Missense_Mutation_p.Y200C|BCAR1_uc002fdu.2_Missense_Mutation_p.Y537C|BCAR1_uc010cgu.2_Missense_Mutation_p.Y736C|BCAR1_uc010vna.1_Missense_Mutation_p.Y745C|BCAR1_uc010vnb.1_Missense_Mutation_p.Y793C|BCAR1_uc002fdw.2_Missense_Mutation_p.Y747C|BCAR1_uc010vnc.1_Missense_Mutation_p.Y599C|BCAR1_uc010vnd.1_Missense_Mutation_p.Y765C|BCAR1_uc002fdx.2_Missense_Mutation_p.Y765C	p.Y747C	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2363	-			747			Divergent helix-loop-helix motif.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2240A>G	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153299	0.78114	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.000000	0.64402	D	0.000001	T	0.57902	0.2085	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.998;0.997;0.997;0.998;0.999;0.998;1.0	T	0.65034	-0.6266	10	0.87932	D	0	-25.5919	13.304	0.60342	0.0:0.0:0.0:1.0	.	765;599;793;745;765;765;747;747;537	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	C	747;765;765;747;793;599;765;745;718	ENSP00000162330:Y747C;ENSP00000377074:Y765C;ENSP00000392708:Y765C;ENSP00000443841:Y747C;ENSP00000391669:Y793C;ENSP00000440370:Y599C;ENSP00000377072:Y765C;ENSP00000440415:Y745C;ENSP00000442161:Y718C	ENSP00000162330:Y747C	Y	-	2	0	BCAR1	73821283	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.972000	0.70448	1.873000	0.54277	0.460000	0.39030	TAC		PASS	0.672	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		13	64	13	64	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr17:7578507G>C	ENST00000269305.4	-	5	612	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C141W|TP53_ENST00000455263.2_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000359597.4_Missense_Mutation_p.C141W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGCACAGGGCAGGTCTTGG	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		55	Substitution - Missense(16)|Substitution - Nonsense(11)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.C141Y(61)|p.C141*(11)|p.C141R(10)|p.C141W(10)|p.0?(7)|p.C141C(4)|p.C141F(4)|p.C141fs*29(3)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A138_V143delAKTCPV(1)|p.A138_P142delAKTCP(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)	ovary(13)|lung(9)|breast(6)|oesophagus(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(421-423)TGC>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	56.0	56.0					17																	7578507		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578507G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.423C>G	17.37:g.7578507G>C	ENSP00000269305:p.Cys141Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C141W|TP53_uc002gih.2_Missense_Mutation_p.C141W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C9W|TP53_uc010cng.1_Missense_Mutation_p.C9W|TP53_uc002gii.1_Missense_Mutation_p.C9W|TP53_uc010cnh.1_Missense_Mutation_p.C141W|TP53_uc010cni.1_Missense_Mutation_p.C141W|TP53_uc002gij.2_Missense_Mutation_p.C141W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C48W|TP53_uc002gio.2_Missense_Mutation_p.C9W|TP53_uc010vug.1_Missense_Mutation_p.C102W	p.C141W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	617	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.423C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936103	0.34189	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.48	2.07	0.26955	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99775	0.9907	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D	0.98853	1.0759	10	0.87932	D	0	-26.1094	8.3736	0.32430	0.2952:0.0:0.7048:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141W;ENSP00000352610:C141W;ENSP00000269305:C141W;ENSP00000398846:C141W;ENSP00000391127:C141W;ENSP00000391478:C141W;ENSP00000425104:C9W;ENSP00000423862:C48W;ENSP00000424104:C141W	ENSP00000269305:C141W	C	-	3	2	TP53	7519232	1.000000	0.71417	0.987000	0.45799	0.022000	0.10575	1.115000	0.31209	0.236000	0.21180	0.655000	0.94253	TGC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	34	26	34	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7793959	7793959	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr17:7793959A>G	ENST00000330494.7	+	3	434	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	CHD3_ENST00000570758.1_3'UTR|CHD3_ENST00000358181.4_Missense_Mutation_p.Y95C|CHD3_ENST00000380358.4_Missense_Mutation_p.Y154C	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	95					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y95C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGCAGTGAATATGGAACCGGA	0.483																																						uc002gje.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(283-285)TAT>TGT		chromodomain helicase DNA binding protein 3							44.0	48.0	46.0					17																	7793959		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7793959A>G	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.284A>G	17.37:g.7793959A>G	ENSP00000332628:p.Tyr95Cys					CHD3_uc002gjd.2_Missense_Mutation_p.Y154C|CHD3_uc002gjf.2_Missense_Mutation_p.Y95C|CHD3_uc002gjg.1_5'Flank	p.Y95C	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			3	434	+		Prostate(122;0.202)	95					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.284A>G	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168578	0.38315	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;D;D	0.90385	1.57;-2.65;-2.66	4.09	4.09	0.47781	.	0.000000	0.36482	N	0.002580	D	0.94262	0.8157	M	0.70595	2.14	0.52501	D	0.999956	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.994	D	0.94698	0.7880	10	0.72032	D	0.01	-8.2328	13.2237	0.59903	1.0:0.0:0.0:0.0	.	95;95;154	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	C	154;95;95	ENSP00000369716:Y154C;ENSP00000350907:Y95C;ENSP00000332628:Y95C	ENSP00000332628:Y95C	Y	+	2	0	CHD3	7734684	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.228000	0.72288	1.691000	0.51100	0.383000	0.25322	TAT		PASS	0.483	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	21	4	21	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10429113	10429113	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr17:10429113G>T	ENST00000245503.5	-	31	4652	c.4268C>A	c.(4267-4269)aCg>aAg	p.T1423K	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1423K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1423					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1423K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCGCTGCTTCGTCTTTTCGAG	0.512																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4267-4269)ACG>AAG		myosin heavy chain IIa							76.0	71.0	73.0					17																	10429113		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429113G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4268C>A	17.37:g.10429113G>T	ENSP00000245503:p.Thr1423Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1423K|MYH2_uc010coj.2_Intron	p.T1423K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			31	4396	-			1423			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4268C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685654	0.88639	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.79454	-1.27;-1.27	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.40385	U	0.001105	D	0.92351	0.7573	H	0.96996	3.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94822	0.7988	10	0.87932	D	0	.	18.2697	0.90064	0.0:0.0:1.0:0.0	.	1423	Q9UKX2	MYH2_HUMAN	K	1423	ENSP00000245503:T1423K;ENSP00000380367:T1423K	ENSP00000245503:T1423K	T	-	2	0	MYH2	10369838	1.000000	0.71417	0.952000	0.39060	0.776000	0.43924	9.657000	0.98554	2.558000	0.86282	0.313000	0.20887	ACG		PASS	0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		29	39	29	39	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57733276	57733276	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr17:57733276A>T	ENST00000269122.3	+	6	1131	c.857A>T	c.(856-858)gAt>gTt	p.D286V	CLTC_ENST00000393043.1_Missense_Mutation_p.D286V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	286	Globular terminal domain.|WD40-like repeat 6.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.D286V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CACCTCTATGATCTTGAGACT	0.358			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(856-858)GAT>GTT		clathrin heavy chain 1							147.0	141.0	143.0					17																	57733276		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733276A>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.857A>T	17.37:g.57733276A>T	ENSP00000269122:p.Asp286Val					CLTC_uc002ixp.2_Missense_Mutation_p.D286V|CLTC_uc002ixr.1_Missense_Mutation_p.D290V	p.D286V	NM_004859	NP_004850	Q00610	CLH1_HUMAN			6	1300	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		286			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.857A>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730347	0.89390	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.27890	1.64;1.64	5.58	5.58	0.84498	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.995;0.996	T	0.77918	-0.2408	10	0.87932	D	0	.	15.7561	0.78025	1.0:0.0:0.0:0.0	.	286;286	Q00610;Q00610-2	CLH1_HUMAN;.	V	286	ENSP00000269122:D286V;ENSP00000376763:D286V	ENSP00000269122:D286V	D	+	2	0	CLTC	55088058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.115000	0.64714	0.482000	0.46254	GAT		PASS	0.358	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		28	132	28	132	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67215713	67215713	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr17:67215713A>T	ENST00000269081.4	-	7	1412	c.503T>A	c.(502-504)gTg>gAg	p.V168E	ABCA10_ENST00000432313.2_Missense_Mutation_p.V168E|ABCA10_ENST00000416101.2_Missense_Mutation_p.V168E	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	168					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V168E(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAGACCCATCACTGTCATCAG	0.308																																						uc010dfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(502-504)GTG>GAG		ATP-binding cassette, sub-family A, member 10							59.0	65.0	63.0					17																	67215713		2203	4296	6499	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67215713A>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.503T>A	17.37:g.67215713A>T	ENSP00000269081:p.Val168Glu					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Missense_Mutation_p.V60E	p.V168E	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			7	1382	-	Breast(10;6.95e-12)		168					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.503T>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503794	0.26949	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.84730	-1.89;-1.89;-1.89	3.73	2.64	0.31445	.	1.660670	0.04934	U	0.457427	D	0.86029	0.5835	L	0.47716	1.5	0.09310	N	0.999998	P;P	0.47191	0.891;0.578	P;P	0.50708	0.648;0.648	T	0.71283	-0.4639	10	0.87932	D	0	.	7.0898	0.25277	0.8867:0.0:0.1133:0.0	.	168;168	E5RFP5;Q8WWZ4	.;ABCAA_HUMAN	E	168	ENSP00000269081:V168E;ENSP00000407772:V168E;ENSP00000387674:V168E	ENSP00000269081:V168E	V	-	2	0	ABCA10	64727308	0.001000	0.12720	0.001000	0.08648	0.093000	0.18481	0.463000	0.21972	0.497000	0.27926	0.491000	0.48974	GTG		PASS	0.308	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		46	63	46	63	---	---	---	---
ICT1	3396	broad.mit.edu	37	17	73008861	73008861	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr17:73008861G>A	ENST00000301585.5	+	1	93	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	27					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)	p.R27H(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CGGTGCCCACGCCGGGCGCTG	0.667											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(79-81)CGC>CAC		immature colon carcinoma transcript 1 precursor							18.0	15.0	16.0					17																	73008861		2186	4283	6469	SO:0001583	missense	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73008861G>A	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.80G>A	17.37:g.73008861G>A	ENSP00000301585:p.Arg27His		OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142		p.R27H	NM_001545	NP_001536	Q14197	ICT1_HUMAN			1	82	+	all_lung(278;0.226)		27					B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	c.80G>A	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	G	7.855	0.724894	0.15439	.	.	ENSG00000167862	ENST00000301585	T	0.24538	1.85	5.58	-2.86	0.05717	.	1.184400	0.05945	N	0.637758	T	0.13243	0.0321	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27938	-1.0059	10	0.42905	T	0.14	0.0385	4.5639	0.12173	0.4628:0.0:0.2901:0.2471	.	27	Q14197	ICT1_HUMAN	H	27	ENSP00000301585:R27H	ENSP00000301585:R27H	R	+	2	0	ICT1	70520456	0.000000	0.05858	0.004000	0.12327	0.103000	0.19146	-1.002000	0.03686	-0.814000	0.04352	-0.857000	0.03018	CGC		PASS	0.667	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		4	12	4	12	---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79914879	79914879	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr17:79914879G>T	ENST00000409678.3	-	7	1150	c.767C>A	c.(766-768)gCc>gAc	p.A256D		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	256						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.A190D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACCTGGATGGCTGGGTAGCC	0.667																																						uc010wvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)GCC>GAC		notum pectinacetylesterase homolog precursor							73.0	58.0	63.0					17																	79914879		2203	4300	6503	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79914879G>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.767C>A	17.37:g.79914879G>T	ENSP00000387310:p.Ala256Asp						p.A256D	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1039	-	all_neural(118;0.0878)|Ovarian(332;0.12)		256					Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.767C>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501738	0.26949	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.54	3.49	0.39957	.	0.279355	0.39083	N	0.001464	T	0.29914	0.0748	L	0.31752	0.955	0.29013	N	0.886778	B	0.33171	0.4	B	0.37198	0.243	T	0.13575	-1.0504	9	0.12103	T	0.63	.	11.8008	0.52126	0.0:0.4183:0.5817:0.0	.	256	Q6P988	NOTUM_HUMAN	D	256	.	ENSP00000387310:A256D	A	-	2	0	NOTUM	77508169	0.998000	0.40836	0.974000	0.42286	0.647000	0.38526	2.479000	0.45197	2.055000	0.61198	0.313000	0.20887	GCC		PASS	0.667	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		20	17	20	17	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44559910	44559910	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr18:44559910C>T	ENST00000332567.4	-	1	2078	c.1726G>A	c.(1726-1728)Gca>Aca	p.A576T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	576	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D573fs*75(1)|p.A576T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTAACGAGTGCGTGATTGTCT	0.512																																						uc002lcr.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|prostate(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1726-1728)GCA>ACA		elongin A2							61.0	57.0	58.0					18																	44559910		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559910C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1726G>A	18.37:g.44559910C>T	ENSP00000331302:p.Ala576Thr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A576T	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	2079	-			576			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1726G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.901	0.535718	0.13188	.	.	ENSG00000206181	ENST00000332567	T	0.30981	1.51	1.28	0.37	0.16160	.	0.730588	0.11305	N	0.577771	T	0.13329	0.0323	N	0.12569	0.235	0.09310	N	1	P	0.34837	0.472	B	0.34824	0.19	T	0.23940	-1.0174	10	0.17369	T	0.5	-1.9857	3.6296	0.08126	0.0:0.739:0.0:0.261	.	576	Q8IYF1	ELOA2_HUMAN	T	576	ENSP00000331302:A576T	ENSP00000331302:A576T	A	-	1	0	TCEB3B	42813908	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.249000	0.08842	0.110000	0.17919	0.514000	0.50259	GCA		PASS	0.512	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		36	68	36	68	---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60223462	60223462	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr18:60223462C>G	ENST00000269499.5	+	6	1758	c.1340C>G	c.(1339-1341)gCt>gGt	p.A447G	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A126G	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	447						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.A447G(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCATCACAAGCTTTTCTACAA	0.363																																						uc002lip.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|prostate(1)	2						c.(1339-1341)GCT>GGT		zinc finger, CCHC domain containing 2							127.0	111.0	116.0					18																	60223462		1860	4097	5957	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60223462C>G	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1340C>G	18.37:g.60223462C>G	ENSP00000269499:p.Ala447Gly					ZCCHC2_uc002lio.2_RNA	p.A447G	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			6	1340	+			447					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.1340C>G	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460777	0.84317	.	.	ENSG00000141664	ENST00000269499	T	0.04454	3.62	5.66	5.66	0.87406	Phox homologous domain (2);	0.172617	0.40302	N	0.001138	T	0.19485	0.0468	L	0.58101	1.795	0.53688	D	0.999977	D	0.76494	0.999	D	0.78314	0.991	T	0.00032	-1.2276	10	0.49607	T	0.09	-16.1281	18.524	0.90965	0.0:1.0:0.0:0.0	.	447	Q9C0B9	ZCHC2_HUMAN	G	447	ENSP00000269499:A447G	ENSP00000269499:A447G	A	+	2	0	ZCCHC2	58374442	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.211000	0.51137	2.666000	0.90696	0.563000	0.77884	GCT		PASS	0.363	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		6	21	6	21	---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77193660	77193660	+	Silent	SNP	C	C	G	rs267605263		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr18:77193660C>G	ENST00000427363.2	+	3	1308	c.1308C>G	c.(1306-1308)tcC>tcG	p.S436S	NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000592223.1_Silent_p.S423S|NFATC1_ENST00000329101.4_Silent_p.S423S|NFATC1_ENST00000542384.1_Silent_p.S436S|NFATC1_ENST00000586434.1_Silent_p.S423S|NFATC1_ENST00000318065.5_Silent_p.S423S|NFATC1_ENST00000587635.1_Silent_p.S436S|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000253506.5_Silent_p.S436S|NFATC1_ENST00000591814.1_Silent_p.S436S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	436	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S423S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AGCCCAAGTCCCACCACCGAG	0.692																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1306-1308)TCC>TCG		nuclear factor of activated T-cells, cytosolic							77.0	77.0	77.0					18																	77193660		2203	4299	6502	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77193660C>G	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1308C>G	18.37:g.77193660C>G						NFATC1_uc002lnc.1_Silent_p.S436S|NFATC1_uc010xff.1_Silent_p.S436S|NFATC1_uc002lnd.2_Silent_p.S436S|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Silent_p.S436S|NFATC1_uc010xfi.1_Silent_p.S423S|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Silent_p.S423S|NFATC1_uc002lng.2_Silent_p.S423S|NFATC1_uc010xfk.1_Silent_p.S423S	p.S436S	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1761	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	436			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.1308C>G																																																																																					PASS	0.692	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		40	88	40	88	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1051539	1051539	+	Silent	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:1051539T>C	ENST00000263094.6	+	21	3147	c.2916T>C	c.(2914-2916)ccT>ccC	p.P972P	ABCA7_ENST00000435683.2_Silent_p.P834P|ABCA7_ENST00000433129.1_Silent_p.P972P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	972	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.P972P(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)		GCGTGGATCCTGCTTCCCGCC	0.582																																						uc002lqw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(2914-2916)CCT>CCC		ATP-binding cassette, sub-family A, member 7							54.0	42.0	46.0					19																	1051539		2193	4286	6479	SO:0001819	synonymous_variant	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.chr19:1051539T>C	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.2916T>C	19.37:g.1051539T>C						ABCA7_uc010dsb.1_Silent_p.P834P	p.P972P	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)	21	3147	+		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)	972			ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.2916T>C	CCDS12055.1																																																																																				PASS	0.582	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	29	8	29	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063785	9063785	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:9063785G>A	ENST00000397910.4	-	3	23864	c.23661C>T	c.(23659-23661)acC>acT	p.T7887T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7889	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.T7887T(2)|p.T3520T(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						ACCAGCTGACGGTTCTTGTGG	0.502																																						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.(23659-23661)ACC>ACT		mucin 16							182.0	165.0	170.0					19																	9063785		2027	4192	6219	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063785G>A	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.23661C>T	19.37:g.9063785G>A							p.T7887T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	23865	-			7889			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.23661C>T	CCDS54212.1																																																																																				PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	86	34	86	---	---	---	---
FARSA	2193	broad.mit.edu	37	19	13035919	13035919	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:13035919C>T	ENST00000314606.4	-	8	929	c.911G>A	c.(910-912)gGc>gAc	p.G304D	FARSA_ENST00000423140.2_Missense_Mutation_p.G273D|FARSA_ENST00000588025.1_Missense_Mutation_p.G344D	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	304					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.G304D(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGAGCCGTAGCCGCCCTGAGA	0.622																																						uc002mvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)GGC>GAC		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						46.0	41.0	42.0					19																	13035919		2203	4299	6502	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13035919C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.911G>A	19.37:g.13035919C>T	ENSP00000320309:p.Gly304Asp					FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.G273D|FARSA_uc010dyy.1_Missense_Mutation_p.G225D	p.G304D	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			8	959	-			304					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.911G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180724	0.78677	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.66099	-0.19;0.5	5.85	5.85	0.93711	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.62088	1.915	0.80722	D	1	B;P;P	0.35077	0.246;0.483;0.483	B;B;B	0.39503	0.285;0.301;0.301	T	0.67872	-0.5558	10	0.62326	D	0.03	-2.1864	18.933	0.92574	0.0:1.0:0.0:0.0	.	273;304;304	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	D	304;273	ENSP00000320309:G304D;ENSP00000396548:G273D	ENSP00000320309:G304D	G	-	2	0	FARSA	12896919	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.929000	0.75852	2.772000	0.95346	0.655000	0.94253	GGC		PASS	0.622	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		6	14	6	14	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14765947	14765947	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:14765947G>A	ENST00000253673.5	-	6	524	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F	EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.L90F|EMR3_ENST00000599900.1_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	142					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L142F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTGGTGAGAAGTGACTCAAAT	0.368																																						uc002mzi.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(424-426)CTT>TTT		egf-like module-containing mucin-like receptor							116.0	112.0	114.0					19																	14765947		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14765947G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.424C>T	19.37:g.14765947G>A	ENSP00000253673:p.Leu142Phe					EMR3_uc010dzp.2_Missense_Mutation_p.L90F|EMR3_uc010xnv.1_Intron	p.L142F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			6	572	-			142			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.424C>T	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	7.844	0.722604	0.15439	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	T;T	0.23754	1.89;1.89	3.65	-4.98	0.03019	.	.	.	.	.	T	0.14356	0.0347	L	0.27053	0.805	0.09310	N	1	B;B	0.19073	0.033;0.006	B;B	0.25405	0.06;0.013	T	0.32929	-0.9888	9	0.41790	T	0.15	.	4.7092	0.12865	0.3807:0.2838:0.3354:0.0	.	90;142	Q9BY15-2;Q9BY15	.;EMR3_HUMAN	F	142;90	ENSP00000253673:L142F;ENSP00000340758:L90F	ENSP00000253673:L142F	L	-	1	0	EMR3	14626947	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.148000	0.16224	-1.014000	0.03379	-0.150000	0.13652	CTT		PASS	0.368	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		16	144	16	144	---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17922703	17922703	+	Silent	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:17922703T>C	ENST00000318683.6	+	3	1038	c.891T>C	c.(889-891)gaT>gaC	p.D297D	B3GNT3_ENST00000595387.1_Silent_p.D297D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	297					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.D297D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCATTGATGATGTCTTCCTGG	0.627																																						uc002nhk.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(889-891)GAT>GAC		UDP-GlcNAc:betaGal							136.0	118.0	124.0					19																	17922703		2203	4300	6503	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922703T>C	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.891T>C	19.37:g.17922703T>C						B3GNT3_uc002nhl.1_Silent_p.D297D|B3GNT3_uc010ebd.1_Silent_p.D297D|B3GNT3_uc010ebe.1_Silent_p.D297D	p.D297D	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			3	976	+			297			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.891T>C	CCDS12364.1																																																																																				PASS	0.627	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		74	194	74	194	---	---	---	---
JUND	3727	broad.mit.edu	37	19	18391543	18391543	+	Missense_Mutation	SNP	C	C	T	rs367728832	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:18391543C>T	ENST00000252818.3	-	1	889	c.752G>A	c.(751-753)aGc>aAc	p.S251N	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	251					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S207N(1)		lung(2)|prostate(1)	3						CTCGCCGAAGCTCGGCACGTC	0.726													c|||	2	0.000399361	0.0	0.0014	5008	,	,		8066	0.0		0.001	False		,,,				2504	0.0					uc002nip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(751-753)AGC>AAC		jun D proto-oncogene			ASN/SER	0,4200		0,0,2100	13.0	14.0	14.0		752	2.1	1.0	19		14	2,8192		0,2,4095	no	missense	JUND	NM_005354.4	46	0,2,6195	TT,TC,CC		0.0244,0.0,0.0161	probably-damaging	251/348	18391543	2,12392	2100	4097	6197	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391543C>T		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.752G>A	19.37:g.18391543C>T	ENSP00000252818:p.Ser251Asn					hsa-mir-3188|MI0014232_5'Flank	p.S251N	NM_005354	NP_005345	P17535	JUND_HUMAN			1	890	-			251					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.752G>A	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.053160	0.55218	0.0	2.44E-4	ENSG00000130522	ENST00000252818	T	0.47177	0.85	3.16	2.11	0.27256	Jun-like transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.52677	0.1749	L	0.42245	1.32	0.47737	D	0.999504	D	0.65815	0.995	D	0.66602	0.945	T	0.45352	-0.9267	10	0.37606	T	0.19	.	8.2183	0.31526	0.0:0.8759:0.0:0.1241	.	251	P17535	JUND_HUMAN	N	251	ENSP00000252818:S251N	ENSP00000252818:S251N	S	-	2	0	JUND	18252543	1.000000	0.71417	0.994000	0.49952	0.099000	0.18886	2.795000	0.47861	0.681000	0.31386	0.450000	0.29827	AGC		PASS	0.726	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		14	27	14	27	---	---	---	---
GDF15	9518	broad.mit.edu	37	19	18499285	18499285	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:18499285A>C	ENST00000252809.3	+	2	499	c.467A>C	c.(466-468)cAc>cCc	p.H156P	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	156					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.H156P(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CCCGCGCTGCACCTGCGACTG	0.701											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002niv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(466-468)CAC>CCC		growth differentiation factor 15							7.0	8.0	8.0					19																	18499285		1926	3936	5862	SO:0001583	missense	9518				cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr19:18499285A>C	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.467A>C	19.37:g.18499285A>C	ENSP00000252809:p.His156Pro		OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726		p.H156P	NM_004864	NP_004855	Q99988	GDF15_HUMAN			2	499	+			156					O14629|P78360|Q9BWA0|Q9NRT0	Missense_Mutation	SNP	ENST00000252809.3	37	c.467A>C	CCDS12376.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098592	0.56183	.	.	ENSG00000130513	ENST00000252809	T	0.81078	-1.45	4.24	-8.48	0.00935	.	0.840093	0.10392	N	0.680253	T	0.59972	0.2233	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40590	-0.9555	10	0.36615	T	0.2	-2.7969	3.7529	0.08573	0.1372:0.1157:0.6318:0.1154	.	156	Q99988	GDF15_HUMAN	P	156	ENSP00000252809:H156P	ENSP00000252809:H156P	H	+	2	0	GDF15	18360285	0.002000	0.14202	0.000000	0.03702	0.849000	0.48306	-0.397000	0.07269	-2.204000	0.00743	0.260000	0.18958	CAC		PASS	0.701	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		4	11	4	11	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941130	22941130	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:22941130A>T	ENST00000596209.1	-	4	1671	c.1581T>A	c.(1579-1581)caT>caA	p.H527Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.H436Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	527					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.H436Q(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)				GAATTATCTTATGTTTTCTAA	0.333																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1306-1308)CAT>CAA		zinc finger protein 99							34.0	36.0	35.0					19																	22941130		1968	4154	6122	SO:0001583	missense	7652							g.chr19:22941130A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1581T>A	19.37:g.22941130A>T	ENSP00000472969:p.His527Gln						p.H436Q	NM_001080409	NP_001073878					5	1308	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1308T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	10.49	1.364990	0.24684	.	.	ENSG00000213973	ENST00000397104	D	0.86865	-2.18	1.16	-0.14	0.13456	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93154	0.7820	H	0.95574	3.69	0.09310	N	1	D	0.65815	0.995	P	0.61800	0.894	D	0.84397	0.0558	9	0.87932	D	0	.	5.0293	0.14402	0.6162:0.0:0.3838:0.0	.	436	A8MXY4	ZNF99_HUMAN	Q	436	ENSP00000380293:H436Q	ENSP00000380293:H436Q	H	-	3	2	ZNF99	22732970	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.377000	0.07456	-0.345000	0.08325	0.163000	0.16589	CAT		PASS	0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		24	68	24	68	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677356	37677356	+	Silent	SNP	C	C	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:37677356C>T	ENST00000532828.2	-	5	1334	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	ZNF585B_ENST00000531805.1_Silent_p.K306K|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K361K(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTAAAGGCCTTCCCACACT	0.418																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1081-1083)AAG>AAA		zinc finger protein 585B							91.0	88.0	89.0					19																	37677356		2203	4298	6501	SO:0001819	synonymous_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677356C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1083G>A	19.37:g.37677356C>T						uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.K175K	p.K361K	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1337	-			361			C2H2-type 7.		Q8IZD3|Q96JW6	Silent	SNP	ENST00000532828.2	37	c.1083G>A	CCDS12500.1																																																																																				PASS	0.418	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		9	156	9	156	---	---	---	---
DHDH	27294	broad.mit.edu	37	19	49442786	49442786	+	Silent	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:49442786G>T	ENST00000221403.2	+	4	487	c.447G>T	c.(445-447)gtG>gtT	p.V149V	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Silent_p.V149V	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	149					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.V149V(1)		central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		ACCTCCGGGTGGCTCGGGCAG	0.627																																						uc002ple.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)GTG>GTT		dimeric dihydrodiol dehydrogenase							61.0	63.0	62.0					19																	49442786		2203	4300	6503	SO:0001819	synonymous_variant	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49442786G>T	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.447G>T	19.37:g.49442786G>T							p.V149V	NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	4	487	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	149						Silent	SNP	ENST00000221403.2	37	c.447G>T	CCDS12741.1																																																																																				PASS	0.627	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		25	100	25	100	---	---	---	---
LILRA3	11026	broad.mit.edu	37	19	54803248	54803248	+	Silent	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:54803248G>A	ENST00000251390.3	-	4	520	c.429C>T	c.(427-429)atC>atT	p.I143I	LILRA3_ENST00000391745.1_Silent_p.I160I|LILRA3_ENST00000391744.3_Silent_p.I143I	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	143	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.I143I(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGTCACACTGGATGGTCACAT	0.542																																						uc002qfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(427-429)ATC>ATT		leukocyte immunoglobulin-like receptor,							150.0	121.0	131.0					19																	54803248		2198	4207	6405	SO:0001819	synonymous_variant	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803248G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.429C>T	19.37:g.54803248G>A						LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.I143I	p.I143I	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	494	-	Ovarian(34;0.19)		143			Ig-like C2-type 2.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.429C>T	CCDS12887.1																																																																																				PASS	0.542	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			31	57	31	57	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55450740	55450740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr19:55450740C>A	ENST00000590030.1	-	3	1487	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NLRP7_ENST00000446217.1_Nonsense_Mutation_p.E511*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E483*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E483*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E483*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.E483*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E483*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	483	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E483*(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCTCCTTCTCCAGGGCGTAG	0.592																																						uc002qih.3																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1447-1449)GAG>TAG		NACHT, leucine rich repeat and PYD containing 7							50.0	49.0	49.0					19																	55450740		2203	4300	6503	SO:0001587	stop_gained	199713						ATP binding	g.chr19:55450740C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1447G>T	19.37:g.55450740C>A	ENSP00000465520:p.Glu483*					NLRP7_uc002qig.3_Nonsense_Mutation_p.E483*|NLRP7_uc002qii.3_Nonsense_Mutation_p.E483*|NLRP7_uc010esk.2_Nonsense_Mutation_p.E483*|NLRP7_uc010esl.2_Nonsense_Mutation_p.E511*	p.E483*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1523	-			483			NACHT.		E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP	ENST00000590030.1	37	c.1447G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288170	0.95517	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	.	.	.	1.92	0.872	0.19113	.	1.379590	0.05401	N	0.540641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	6.1891	0.20513	0.0:0.8273:0.0:0.1727	.	.	.	.	X	483;483;483;511;250	.	ENSP00000329568:E483X	E	-	1	0	NLRP7	60142552	0.081000	0.21417	0.003000	0.11579	0.432000	0.31715	0.499000	0.22546	0.369000	0.24510	0.462000	0.41574	GAG		PASS	0.592	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		13	64	13	64	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18529263	18529263	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr20:18529263A>T	ENST00000336714.3	+	16	2186	c.1754A>T	c.(1753-1755)cAt>cTt	p.H585L	SEC23B_ENST00000377465.1_Missense_Mutation_p.H585L|AL121893.1_ENST00000578930.1_RNA|SEC23B_ENST00000377475.3_Missense_Mutation_p.H585L|SEC23B_ENST00000262544.2_Missense_Mutation_p.H585L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	585					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.H585L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTTATGTTCCATCTGAGAAGA	0.423																																						uc002wqz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1753-1755)CAT>CTT		Sec23 homolog B							119.0	104.0	109.0					20																	18529263		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18529263A>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1754A>T	20.37:g.18529263A>T	ENSP00000338844:p.His585Leu					SEC23B_uc002wra.1_Missense_Mutation_p.H585L|SEC23B_uc002wrb.1_Missense_Mutation_p.H585L|SEC23B_uc010zsb.1_Missense_Mutation_p.H567L|SEC23B_uc002wrc.1_Missense_Mutation_p.H585L	p.H585L	NM_006363	NP_006354	Q15437	SC23B_HUMAN			16	2197	+			585					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1754A>T	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302844	0.81136	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	4.74	3.61	0.41365	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	H	0.96015	3.755	0.80722	D	1	D;P	0.67145	0.996;0.949	D;P	0.68621	0.959;0.826	D	0.95572	0.8639	10	0.87932	D	0	-22.9235	9.9683	0.41738	0.9173:0.0:0.0827:0.0	.	567;585	B4DJW8;Q15437	.;SC23B_HUMAN	L	585;585;585;585;93	ENSP00000338844:H585L;ENSP00000262544:H585L;ENSP00000366695:H585L;ENSP00000366685:H585L;ENSP00000409882:H93L	ENSP00000262544:H585L	H	+	2	0	SEC23B	18477263	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.225000	0.78051	1.996000	0.58369	0.460000	0.39030	CAT		PASS	0.423	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			20	79	20	79	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36841984	36841984	+	Silent	SNP	C	C	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr20:36841984C>G	ENST00000279024.4	-	14	3334	c.3063G>C	c.(3061-3063)gtG>gtC	p.V1021V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1021								p.V1021V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCAGGGAGGCCACCTGCAGCC	0.672																																						uc002xhy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(3061-3063)GTG>GTC		hypothetical protein LOC85449							24.0	25.0	25.0					20																	36841984		2198	4297	6495	SO:0001819	synonymous_variant	85449							g.chr20:36841984C>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3063G>C	20.37:g.36841984C>G						KIAA1755_uc002xhv.1_Silent_p.V85V|KIAA1755_uc002xhw.1_Silent_p.V76V|KIAA1755_uc002xhx.1_Silent_p.V299V	p.V1021V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			14	3335	-		Myeloproliferative disorder(115;0.00874)	1021					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.3063G>C	CCDS33467.1																																																																																				PASS	0.672	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		9	25	9	25	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47838119	47838119	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr20:47838119G>A	ENST00000371764.4	+	2	326	c.317G>A	c.(316-318)aGc>aAc	p.S106N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	106	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.S106N(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATGTCATGAGCCAACTCAAG	0.522																																						uc002xuh.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(316-318)AGC>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							112.0	85.0	94.0					20																	47838119		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47838119G>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.317G>A	20.37:g.47838119G>A	ENSP00000360828:p.Ser106Asn						p.S106N	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	378	+			106			Asp/Glu/Lys-rich.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.317G>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135956	0.21123	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01455	4.87	5.06	4.09	0.47781	.	0.675985	0.16037	N	0.232617	T	0.01661	0.0053	L	0.29908	0.895	0.25988	N	0.982284	B	0.02656	0.0	B	0.04013	0.001	T	0.44034	-0.9354	10	0.26408	T	0.33	-21.7332	7.88	0.29616	0.1806:0.0:0.8194:0.0	.	106	Q96GQ7	DDX27_HUMAN	N	106	ENSP00000360828:S106N	ENSP00000360828:S106N	S	+	2	0	DDX27	47271526	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.516000	0.35856	2.642000	0.89623	0.561000	0.74099	AGC		PASS	0.522	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			17	43	17	43	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50701752	50701752	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr20:50701752C>A	ENST00000361387.2	-	9	1342	c.1282G>T	c.(1282-1284)Gac>Tac	p.D428Y	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.D209Y	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	385					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.D428Y(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTTTCAAGTCCGAGCTGATT	0.522																																						uc002xwk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1282-1284)GAC>TAC		zinc finger protein 64 isoform d							45.0	41.0	43.0					20																	50701752		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701752C>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1282G>T	20.37:g.50701752C>A	ENSP00000355179:p.Asp428Tyr					ZFP64_uc002xwj.2_Missense_Mutation_p.D209Y	p.D428Y	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN			9	1631	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	c.1282G>T	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798796	0.70567	.	.	ENSG00000020256	ENST00000371523;ENST00000361387	T;T	0.19394	2.15;2.15	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30603	0.0770	L	0.31207	0.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.01666	-1.1300	9	0.05525	T	0.97	.	17.8561	0.88764	0.0:1.0:0.0:0.0	.	428;209	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	Y	209;428	ENSP00000360578:D209Y;ENSP00000355179:D428Y	ENSP00000355179:D428Y	D	-	1	0	ZFP64	50135159	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.456000	0.80751	2.511000	0.84671	0.655000	0.94253	GAC		PASS	0.522	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		11	27	11	27	---	---	---	---
SAMSN1	64092	broad.mit.edu	37	21	15882692	15882692	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr21:15882692C>A	ENST00000400566.1	-	5	581	c.500G>T	c.(499-501)cGt>cTt	p.R167L	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.R235L	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	167	SH3.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.R167L(1)|p.R235L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CACTCTGGCACGGCCACAGAA	0.502																																						uc002yju.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(499-501)CGT>CTT		SAM domain, SH3 domain and nuclear localization							135.0	134.0	134.0					21																	15882692		2168	4278	6446	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882692C>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.500G>T	21.37:g.15882692C>A	ENSP00000383411:p.Arg167Leu					SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R235L	p.R167L	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	5	582	-			167			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.500G>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415203	0.83449	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.07327	3.2;3.2	5.78	5.78	0.91487	Src homology-3 domain (2);Variant SH3 (1);	0.049838	0.85682	D	0.000000	T	0.26846	0.0657	M	0.65677	2.01	0.46586	D	0.999114	D;D	0.76494	0.989;0.999	P;D	0.72075	0.879;0.976	T	0.00116	-1.2036	10	0.87932	D	0	-13.489	14.2026	0.65714	0.0:0.9287:0.0:0.0713	.	235;167	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	L	235;167	ENSP00000285670:R235L;ENSP00000383411:R167L	ENSP00000285670:R235L	R	-	2	0	SAMSN1	14804563	1.000000	0.71417	0.985000	0.45067	0.782000	0.44232	4.651000	0.61447	2.731000	0.93534	0.655000	0.94253	CGT		PASS	0.502	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			27	77	27	77	---	---	---	---
MGAT3	4248	broad.mit.edu	37	22	39884019	39884019	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr22:39884019G>T	ENST00000341184.6	+	2	882	c.667G>T	c.(667-669)Gtg>Ttg	p.V223L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	223					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.V223L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCTGCTGGACGTGCGCTTCCA	0.647																																						uc003axv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GTG>TTG		mannosyl (beta-1,4-)-glycoprotein							50.0	38.0	42.0					22																	39884019		2203	4300	6503	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884019G>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.667G>T	22.37:g.39884019G>T	ENSP00000345270:p.Val223Leu					MGAT3_uc010gxy.2_Missense_Mutation_p.V223L	p.V223L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	906	+	Melanoma(58;0.04)		223			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.667G>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773454	0.69992	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.56	5.56	0.83823	.	0.134632	0.49305	D	0.000149	T	0.56775	0.2008	L	0.40543	1.245	0.48830	D	0.999713	P	0.39576	0.679	B	0.42916	0.402	T	0.53858	-0.8379	9	0.36615	T	0.2	.	19.5351	0.95247	0.0:0.0:1.0:0.0	.	223	Q09327	MGAT3_HUMAN	L	223	.	ENSP00000345270:V223L	V	+	1	0	MGAT3	38213965	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.300000	0.65721	2.640000	0.89533	0.655000	0.94253	GTG		PASS	0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		16	21	16	21	---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12734276	12734276	+	Silent	SNP	A	A	G			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chrX:12734276A>G	ENST00000380682.1	+	15	2204	c.1698A>G	c.(1696-1698)caA>caG	p.Q566Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	566					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Q556Q(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGGGGAACAAGAAGCCCAGA	0.463																																						uc004cuz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(1696-1698)CAA>CAG		FERM and PDZ domain containing 4							132.0	123.0	126.0					X																	12734276		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734276A>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1698A>G	X.37:g.12734276A>G						FRMPD4_uc011mij.1_Silent_p.Q558Q	p.Q566Q	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2204	+			566					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1698A>G	CCDS35201.1																																																																																				PASS	0.463	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		27	58	27	58	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86919919	86919919	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chrX:86919919G>T	ENST00000373119.4	+	10	2226	c.2081G>T	c.(2080-2082)aGa>aTa	p.R694I	KLHL4_ENST00000373114.4_Missense_Mutation_p.R694I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	694						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R694I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GATGCACAGAGAAATGAATGG	0.318																																						uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2080-2082)AGA>ATA		kelch-like 4 isoform 1							113.0	82.0	93.0					X																	86919919		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919919G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2081G>T	X.37:g.86919919G>T	ENSP00000362211:p.Arg694Ile					KLHL4_uc004efa.2_Missense_Mutation_p.R694I	p.R694I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			10	2263	+			694			Kelch 6.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2081G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407631	0.25378	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78003	-1.14;-1.14	4.06	2.89	0.33648	Galactose oxidase, beta-propeller (1);	0.200665	0.50627	D	0.000101	T	0.65417	0.2689	L	0.41236	1.265	0.39347	D	0.965681	B;B	0.16603	0.001;0.018	B;B	0.22601	0.04;0.039	T	0.59500	-0.7443	10	0.52906	T	0.07	.	4.2812	0.10833	0.684:0.1999:0.1161:0.0	.	694;694	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	694	ENSP00000362211:R694I;ENSP00000362206:R694I	ENSP00000362206:R694I	R	+	2	0	KLHL4	86806575	0.995000	0.38212	0.986000	0.45419	0.815000	0.46073	1.797000	0.38804	0.544000	0.28883	-0.458000	0.05436	AGA		PASS	0.318	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			19	26	19	26	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128885770	128885770	+	Silent	SNP	T	T	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chrX:128885770T>C	ENST00000371106.3	+	9	981	c.789T>C	c.(787-789)taT>taC	p.Y263Y		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	263						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.Y263Y(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCTTCTTCTATTCCTACACGC	0.478																																						uc004eut.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(787-789)TAT>TAC		X-prolyl aminopeptidase 2, membrane-bound							250.0	248.0	249.0					X																	128885770		2203	4300	6503	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128885770T>C	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.789T>C	X.37:g.128885770T>C							p.Y263Y	NM_003399	NP_003390	O43895	XPP2_HUMAN			9	1033	+			263					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.789T>C	CCDS14613.1																																																																																				PASS	0.478	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		24	162	24	162	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135303015	135303015	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chrX:135303015G>T	ENST00000316077.9	-	16	2615	c.2395C>A	c.(2395-2397)Cgt>Agt	p.R799S	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R781S|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R764S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	799					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R1096S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGCTCTTTACGGACCTGGCTG	0.388																																						uc004ezt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2395-2397)CGT>AGT		MAP7 domain containing 3							258.0	231.0	239.0					X																	135303015		1838	4083	5921	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135303015G>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2395C>A	X.37:g.135303015G>T	ENSP00000318086:p.Arg799Ser					MAP7D3_uc004ezs.2_Missense_Mutation_p.R763S|MAP7D3_uc011mwc.1_Missense_Mutation_p.R781S|MAP7D3_uc010nsa.1_Missense_Mutation_p.R757S	p.R799S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			16	2486	-	Acute lymphoblastic leukemia(192;0.000127)		799					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.2395C>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	4.930	0.172717	0.09391	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.16897	2.31;3.72;3.72;2.32	3.84	-5.43	0.02632	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23058	0.048;0.079;0.048;0.079	B;B;B;B	0.28465	0.041;0.09;0.041;0.09	T	0.39354	-0.9618	9	0.10111	T	0.7	2.1948	0.2196	0.00166	0.3207:0.2598:0.1597:0.2598	.	781;758;799;764	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	S	764;799;781;758	ENSP00000359695:R764S;ENSP00000318086:R799S;ENSP00000359697:R781S;ENSP00000359694:R758S	ENSP00000318086:R799S	R	-	1	0	MAP7D3	135130681	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.601000	0.02081	-1.584000	0.01636	0.529000	0.55759	CGT		PASS	0.388	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			99	116	99	116	---	---	---	---
F9	2158	broad.mit.edu	37	X	138619203	138619203	+	Silent	SNP	G	G	C			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chrX:138619203G>C	ENST00000218099.2	+	2	130	c.123G>C	c.(121-123)ctG>ctC	p.L41L	F9_ENST00000394090.2_Silent_p.L41L|F9_ENST00000479617.2_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	41					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.L41L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	ACAAAATTCTGAATCGGCCAA	0.313																																						uc004fas.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(121-123)CTG>CTC		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						104.0	105.0	105.0					X																	138619203		2199	4294	6493	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138619203G>C	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.123G>C	X.37:g.138619203G>C						F9_uc004fat.1_Silent_p.L41L	p.L41L	NM_000133	NP_000124	P00740	FA9_HUMAN			2	152	+	Acute lymphoblastic leukemia(192;0.000127)		41					A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.123G>C	CCDS14666.1																																																																																				PASS	0.313	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			11	128	11	128	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												uc003yyc.1																			3	Deletion - In frame(3)		upper_aerodigestive_tract(2)|breast(1)		0						c.(619-624)CACCAT>CAT		v-maf musculoaponeurotic fibrosarcoma oncogene																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)					p.207_208HH>H	NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	621_623	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207_208			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																					0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		5	3	5	3	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42302338	42302338	+	Frame_Shift_Del	DEL	A	A	-	rs28736629|rs59057790|rs547723807	byFrequency	TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr15:42302338delA	ENST00000413860.2	-	1	107	c.108delT	c.(106-108)ggtfs	p.G38fs	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	48	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.A39fs*19(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGCCCCCCCACCCCGGGCCT	0.592																																						uc001zow.1																			1	Deletion - Frameshift(1)		ovary(1)		0						c.(106-108)GGTfs		phospholipase A2, group 4E							53.0	67.0	62.0					15																	42302338		1855	4078	5933	SO:0001589	frameshift_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42302338delA		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.108delT	15.37:g.42302338delA	ENSP00000413897:p.Gly38fs						p.G36fs	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	1	108	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	Error:Variant_position_missing_in_Q3MJ16_after_alignment					Q6ZSC0	Frame_Shift_Del	DEL	ENST00000413860.2	37	c.108delT																																																																																						0.592	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding		NM_198442		18	14	18	14	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20257983	20257983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr20:20257983delG	ENST00000245957.5	+	22	2753	c.2677delG	c.(2677-2679)gccfs	p.A893fs	C20orf26_ENST00000377309.2_Frame_Shift_Del_p.A249fs	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		893										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCTAGGAGCCGCCGGAGTCAC	0.667																																						uc002wru.2																			0				ovary(3)|pancreas(1)	4						c.(2677-2679)GCCfs		hypothetical protein LOC26074							78.0	73.0	75.0					20																	20257983		2203	4300	6503	SO:0001589	frameshift_variant	26074							g.chr20:20257983delG																												ENST00000245957.5:c.2677delG	20.37:g.20257983delG	ENSP00000245957:p.Ala893fs					C20orf26_uc010zse.1_Frame_Shift_Del_p.A873fs|C20orf26_uc002wrw.2_RNA	p.A893fs	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	22	2753	+			893					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Frame_Shift_Del	DEL	ENST00000245957.5	37	c.2677delG	CCDS33447.1																																																																																					0.667	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			86	51	86	51	---	---	---	---
SNTA1	6640	broad.mit.edu	37	20	32005618	32005618	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5021-01A-01D-1441-08	TCGA-39-5021-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4d8b4c6f-e6eb-4799-b64d-119afc691e3d	473e6ff7-6808-48ce-b586-05a46ea9f72e	g.chr20:32005618delC	ENST00000217381.2	-	3	879	c.608delG	c.(607-609)ggcfs	p.G203fs		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	203	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GGGTGTGGGGCCAGGGGAGGA	0.602																																						uc002wzd.1																			0				skin(1)	1						c.(607-609)GGCfs		acidic alpha 1 syntrophin							64.0	68.0	67.0					20																	32005618		2203	4300	6503	SO:0001589	frameshift_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32005618delC	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.608delG	20.37:g.32005618delC	ENSP00000217381:p.Gly203fs					SNTA1_uc010zuf.1_Frame_Shift_Del_p.G203fs	p.G203fs	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			3	880	-			203			PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Frame_Shift_Del	DEL	ENST00000217381.2	37	c.608delG	CCDS13220.1																																																																																					0.602	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		91	55	91	55	---	---	---	---
